\n", + " | aloft.tolerant | \n", + "aloft.recessive | \n", + "aloft.dominant | \n", + "cadd.phred | \n", + "chasmplus.score | \n", + "chasmplus.pval | \n", + "civic.molecular_profile_score | \n", + "cosmic.variant_count | \n", + "cosmic_gene.occurrences | \n", + "cscape.score | \n", + "... | \n", + "mutationtaster.prediction_Automatic Polymorphism | \n", + "mutationtaster.prediction_Damaging | \n", + "mutationtaster.prediction_Polymorphism | \n", + "mutationtaster.model_complex_aae | \n", + "mutationtaster.model_simple_aae | \n", + "mutationtaster.model_without_aae | \n", + "prec.stat_lof-tolerant | \n", + "prec.stat_recessive | \n", + "sift.confidence_High | \n", + "sift.confidence_Low | \n", + "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
0 | \n", + "0.03175 | \n", + "0.5456 | \n", + "0.38385 | \n", + "4.416 | \n", + "0.073 | \n", + "0.277 | \n", + "7.5 | \n", + "1.0 | \n", + "850.0 | \n", + "0.183598 | \n", + "... | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "1 | \n", + "0 | \n", + "
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5 rows ร 239 columns
\n", + "\n", + " | transcript | \n", + "gene | \n", + "consequence | \n", + "protein_hgvs | \n", + "cdna_hgvs | \n", + "chrom | \n", + "pos | \n", + "ref_base | \n", + "alt_base | \n", + "clingen.disease | \n", + "clingen.classification | \n", + "ncbigene.entrez | \n", + "omim.omim_id | \n", + "uniprot.acc | \n", + "dbsnp.rsid | \n", + "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
0 | \n", + "ENST00000293748 | \n", + "SYNGAP1 | \n", + "NMD_transcript_variant,synonymous_variant | \n", + "p.Pro1051= | \n", + "c.3153T>G | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "complex neurodevelopmental disorder | \n", + "Definitive | \n", + "8831.0 | \n", + "NaN | \n", + "Q96PV0 | \n", + "rs781201249 | \n", + "
1 | \n", + "ENST00000418600 | \n", + "SYNGAP1 | \n", + "synonymous_variant | \n", + "p.Pro1066= | \n", + "c.3198T>G | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "complex neurodevelopmental disorder | \n", + "Definitive | \n", + "8831.0 | \n", + "NaN | \n", + "Q96PV0 | \n", + "rs781201249 | \n", + "
2 | \n", + "ENST00000428982 | \n", + "SYNGAP1 | \n", + "synonymous_variant | \n", + "p.Pro1007= | \n", + "c.3021T>G | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "complex neurodevelopmental disorder | \n", + "Definitive | \n", + "8831.0 | \n", + "NaN | \n", + "Q96PV0 | \n", + "rs781201249 | \n", + "
3 | \n", + "ENST00000449372 | \n", + "SYNGAP1 | \n", + "synonymous_variant | \n", + "p.Pro1052= | \n", + "c.3156T>G | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "complex neurodevelopmental disorder | \n", + "Definitive | \n", + "8831.0 | \n", + "NaN | \n", + "Q96PV0 | \n", + "rs781201249 | \n", + "
4 | \n", + "ENST00000628646 | \n", + "SYNGAP1 | \n", + "synonymous_variant | \n", + "p.Pro1066= | \n", + "c.3198T>G | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "complex neurodevelopmental disorder | \n", + "Definitive | \n", + "8831.0 | \n", + "NaN | \n", + "Q96PV0 | \n", + "rs781201249 | \n", + "
\n", + " | transcript | \n", + "gene | \n", + "consequence | \n", + "protein_hgvs | \n", + "cdna_hgvs | \n", + "chrom | \n", + "pos | \n", + "ref_base | \n", + "alt_base | \n", + "clingen.disease | \n", + "clingen.classification | \n", + "ncbigene.entrez | \n", + "omim.omim_id | \n", + "uniprot.acc | \n", + "dbsnp.rsid | \n", + "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
0 | \n", + "ENST00000293748 | \n", + "SYNGAP1 | \n", + "NMD_transcript_variant,synonymous_variant | \n", + "p.Pro1051= | \n", + "c.3153T>G | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "complex neurodevelopmental disorder | \n", + "Definitive | \n", + "8831.0 | \n", + "NaN | \n", + "Q96PV0 | \n", + "rs781201249 | \n", + "
1 | \n", + "ENST00000418600 | \n", + "SYNGAP1 | \n", + "synonymous_variant | \n", + "p.Pro1066= | \n", + "c.3198T>G | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "complex neurodevelopmental disorder | \n", + "Definitive | \n", + "8831.0 | \n", + "NaN | \n", + "Q96PV0 | \n", + "rs781201249 | \n", + "
2 | \n", + "ENST00000428982 | \n", + "SYNGAP1 | \n", + "synonymous_variant | \n", + "p.Pro1007= | \n", + "c.3021T>G | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "complex neurodevelopmental disorder | \n", + "Definitive | \n", + "8831.0 | \n", + "NaN | \n", + "Q96PV0 | \n", + "rs781201249 | \n", + "
3 | \n", + "ENST00000449372 | \n", + "SYNGAP1 | \n", + "synonymous_variant | \n", + "p.Pro1052= | \n", + "c.3156T>G | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "complex neurodevelopmental disorder | \n", + "Definitive | \n", + "8831.0 | \n", + "NaN | \n", + "Q96PV0 | \n", + "rs781201249 | \n", + "
4 | \n", + "ENST00000628646 | \n", + "SYNGAP1 | \n", + "synonymous_variant | \n", + "p.Pro1066= | \n", + "c.3198T>G | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "complex neurodevelopmental disorder | \n", + "Definitive | \n", + "8831.0 | \n", + "NaN | \n", + "Q96PV0 | \n", + "rs781201249 | \n", + "
\n", + " | aloft.tolerant | \n", + "aloft.recessive | \n", + "aloft.dominant | \n", + "cadd.phred | \n", + "chasmplus.score | \n", + "chasmplus.pval | \n", + "civic.molecular_profile_score | \n", + "cosmic.variant_count | \n", + "cosmic_gene.occurrences | \n", + "cscape.score | \n", + "... | \n", + "mutationtaster.prediction_Polymorphism | \n", + "mutationtaster.model_complex_aae | \n", + "mutationtaster.model_simple_aae | \n", + "mutationtaster.model_without_aae | \n", + "prec.stat_lof-tolerant | \n", + "prec.stat_recessive | \n", + "sift.confidence_High | \n", + "sift.confidence_Low | \n", + "class | \n", + "spliceai | \n", + "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
208162 | \n", + "0.03175 | \n", + "0.5456 | \n", + "0.38385 | \n", + "8.510 | \n", + "0.073 | \n", + "0.277 | \n", + "7.5 | \n", + "1.0 | \n", + "3655.0 | \n", + "0.121814 | \n", + "... | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "1 | \n", + "0 | \n", + "0 | \n", + "1 | \n", + "0.0004 | \n", + "
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208166 | \n", + "0.03175 | \n", + "0.5456 | \n", + "0.38385 | \n", + "26.400 | \n", + "0.073 | \n", + "0.277 | \n", + "7.5 | \n", + "1.0 | \n", + "2177.0 | \n", + "0.899148 | \n", + "... | \n", + "0 | \n", + "0 | \n", + "1 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "1 | \n", + "0 | \n", + "0 | \n", + "0.0004 | \n", + "
5 rows ร 241 columns
\n", + "\n", + " | transcript | \n", + "gene | \n", + "consequence | \n", + "protein_hgvs | \n", + "cdna_hgvs | \n", + "chrom | \n", + "pos | \n", + "ref_base | \n", + "alt_base | \n", + "clingen.disease | \n", + "clingen.classification | \n", + "ncbigene.entrez | \n", + "omim.omim_id | \n", + "uniprot.acc | \n", + "dbsnp.rsid | \n", + "DITTO | \n", + "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
0 | \n", + "ENST00000293748 | \n", + "SYNGAP1 | \n", + "NMD_transcript_variant,synonymous_variant | \n", + "p.Pro1051= | \n", + "c.3153T>G | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "complex neurodevelopmental disorder | \n", + "Definitive | \n", + "8831.0 | \n", + "NaN | \n", + "Q96PV0 | \n", + "rs781201249 | \n", + "0.0 | \n", + "
1 | \n", + "ENST00000418600 | \n", + "SYNGAP1 | \n", + "synonymous_variant | \n", + "p.Pro1066= | \n", + "c.3198T>G | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "complex neurodevelopmental disorder | \n", + "Definitive | \n", + "8831.0 | \n", + "NaN | \n", + "Q96PV0 | \n", + "rs781201249 | \n", + "0.0 | \n", + "
2 | \n", + "ENST00000428982 | \n", + "SYNGAP1 | \n", + "synonymous_variant | \n", + "p.Pro1007= | \n", + "c.3021T>G | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "complex neurodevelopmental disorder | \n", + "Definitive | \n", + "8831.0 | \n", + "NaN | \n", + "Q96PV0 | \n", + "rs781201249 | \n", + "0.0 | \n", + "
3 | \n", + "ENST00000449372 | \n", + "SYNGAP1 | \n", + "synonymous_variant | \n", + "p.Pro1052= | \n", + "c.3156T>G | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "complex neurodevelopmental disorder | \n", + "Definitive | \n", + "8831.0 | \n", + "NaN | \n", + "Q96PV0 | \n", + "rs781201249 | \n", + "0.0 | \n", + "
4 | \n", + "ENST00000628646 | \n", + "SYNGAP1 | \n", + "synonymous_variant | \n", + "p.Pro1066= | \n", + "c.3198T>G | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "complex neurodevelopmental disorder | \n", + "Definitive | \n", + "8831.0 | \n", + "NaN | \n", + "Q96PV0 | \n", + "rs781201249 | \n", + "0.0 | \n", + "
\n", + " | transcript | \n", + "gene | \n", + "consequence | \n", + "protein_hgvs | \n", + "cdna_hgvs | \n", + "chrom | \n", + "pos | \n", + "ref_base | \n", + "alt_base | \n", + "clingen.disease | \n", + "... | \n", + "mutationtaster.prediction_Polymorphism | \n", + "mutationtaster.model_complex_aae | \n", + "mutationtaster.model_simple_aae | \n", + "mutationtaster.model_without_aae | \n", + "prec.stat_lof-tolerant | \n", + "prec.stat_recessive | \n", + "sift.confidence_High | \n", + "sift.confidence_Low | \n", + "class | \n", + "spliceai | \n", + "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
0 | \n", + "ENST00000293748 | \n", + "SYNGAP1 | \n", + "NMD_transcript_variant,synonymous_variant | \n", + "p.Pro1051= | \n", + "c.3153T>G | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "complex neurodevelopmental disorder | \n", + "... | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "1 | \n", + "0 | \n", + "0 | \n", + "0.0004 | \n", + "
1 | \n", + "ENST00000418600 | \n", + "SYNGAP1 | \n", + "synonymous_variant | \n", + "p.Pro1066= | \n", + "c.3198T>G | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "complex neurodevelopmental disorder | \n", + "... | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "1 | \n", + "0 | \n", + "0 | \n", + "0.0004 | \n", + "
2 | \n", + "ENST00000428982 | \n", + "SYNGAP1 | \n", + "synonymous_variant | \n", + "p.Pro1007= | \n", + "c.3021T>G | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "complex neurodevelopmental disorder | \n", + "... | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "1 | \n", + "0 | \n", + "0 | \n", + "0.0004 | \n", + "
3 | \n", + "ENST00000449372 | \n", + "SYNGAP1 | \n", + "synonymous_variant | \n", + "p.Pro1052= | \n", + "c.3156T>G | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "complex neurodevelopmental disorder | \n", + "... | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "1 | \n", + "0 | \n", + "0 | \n", + "0.0004 | \n", + "
4 | \n", + "ENST00000628646 | \n", + "SYNGAP1 | \n", + "synonymous_variant | \n", + "p.Pro1066= | \n", + "c.3198T>G | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "complex neurodevelopmental disorder | \n", + "... | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "1 | \n", + "0 | \n", + "0 | \n", + "0.0004 | \n", + "
5 rows ร 257 columns
\n", + "\n", + " | DITTO | \n", + "CADD | \n", + "ClinPred | \n", + "MetaSVM | \n", + "GERP | \n", + "spliceai | \n", + "Revel | \n", + "
---|---|---|---|---|---|---|---|
0 | \n", + "0.0 | \n", + "4.416 | \n", + "0.109 | \n", + "-0.3355 | \n", + "4.66 | \n", + "0.0004 | \n", + "0.38 | \n", + "
1 | \n", + "0.0 | \n", + "4.416 | \n", + "0.109 | \n", + "-0.3355 | \n", + "4.66 | \n", + "0.0004 | \n", + "0.38 | \n", + "
2 | \n", + "0.0 | \n", + "4.416 | \n", + "0.109 | \n", + "-0.3355 | \n", + "4.66 | \n", + "0.0004 | \n", + "0.38 | \n", + "
3 | \n", + "0.0 | \n", + "4.416 | \n", + "0.109 | \n", + "-0.3355 | \n", + "4.66 | \n", + "0.0004 | \n", + "0.38 | \n", + "
4 | \n", + "0.0 | \n", + "4.416 | \n", + "0.109 | \n", + "-0.3355 | \n", + "4.66 | \n", + "0.0004 | \n", + "0.38 | \n", + "
\n", + " | transcript | \n", + "gene | \n", + "consequence | \n", + "protein_hgvs | \n", + "cdna_hgvs | \n", + "chrom | \n", + "pos | \n", + "ref_base | \n", + "alt_base | \n", + "clingen.disease | \n", + "... | \n", + "mutationtaster.prediction_Damaging | \n", + "mutationtaster.prediction_Polymorphism | \n", + "mutationtaster.model_complex_aae | \n", + "mutationtaster.model_simple_aae | \n", + "mutationtaster.model_without_aae | \n", + "prec.stat_lof-tolerant | \n", + "prec.stat_recessive | \n", + "sift.confidence_High | \n", + "sift.confidence_Low | \n", + "class | \n", + "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
208162 | \n", + "ENST00000413539 | \n", + "DYSF | \n", + "intron_variant | \n", + "NaN | \n", + "c.457+150A>G | \n", + "chr2 | \n", + "71512071 | \n", + "A | \n", + "G | \n", + "NaN | \n", + "... | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "1 | \n", + "0 | \n", + "0 | \n", + "1 | \n", + "
208163 | \n", + "ENST00000429174 | \n", + "DYSF | \n", + "intron_variant | \n", + "NaN | \n", + "c.457+150A>G | \n", + "chr2 | \n", + "71512071 | \n", + "A | \n", + "G | \n", + "NaN | \n", + "... | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "1 | \n", + "0 | \n", + "0 | \n", + "1 | \n", + "
208164 | \n", + "ENST00000288135 | \n", + "KIT | \n", + "synonymous_variant | \n", + "p.Thr666= | \n", + "c.1998C>T | \n", + "chr4 | \n", + "54729342 | \n", + "C | \n", + "T | \n", + "NaN | \n", + "... | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "1 | \n", + "0 | \n", + "1 | \n", + "
208165 | \n", + "ENST00000412167 | \n", + "KIT | \n", + "synonymous_variant | \n", + "p.Thr662= | \n", + "c.1986C>T | \n", + "chr4 | \n", + "54729342 | \n", + "C | \n", + "T | \n", + "NaN | \n", + "... | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "1 | \n", + "0 | \n", + "1 | \n", + "
208166 | \n", + "ENST00000328333 | \n", + "COL7A1 | \n", + "missense_variant | \n", + "p.Gly2037Glu | \n", + "c.6110G>A | \n", + "chr3 | \n", + "48575409 | \n", + "C | \n", + "T | \n", + "NaN | \n", + "... | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "1 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "1 | \n", + "0 | \n", + "0 | \n", + "
5 rows ร 256 columns
\n", + "\n", + " | transcript | \n", + "gene | \n", + "consequence | \n", + "protein_hgvs | \n", + "cdna_hgvs | \n", + "chrom | \n", + "pos | \n", + "ref_base | \n", + "alt_base | \n", + "clingen.disease | \n", + "... | \n", + "mutationtaster.prediction_Polymorphism | \n", + "mutationtaster.model_complex_aae | \n", + "mutationtaster.model_simple_aae | \n", + "mutationtaster.model_without_aae | \n", + "prec.stat_lof-tolerant | \n", + "prec.stat_recessive | \n", + "sift.confidence_High | \n", + "sift.confidence_Low | \n", + "class | \n", + "spliceai | \n", + "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
37022 | \n", + "ENST00000591909 | \n", + "TUBB6 | \n", + "3_prime_UTR_variant | \n", + "NaN | \n", + "c.*354C>G | \n", + "chr18 | \n", + "12329537 | \n", + "C | \n", + "G | \n", + "NaN | \n", + "... | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0.0004 | \n", + "
37023 | \n", + "ENST00000289672 | \n", + "PKD1L1 | \n", + "intron_variant | \n", + "NaN | \n", + "c.4961-38C>T | \n", + "chr7 | \n", + "47847109 | \n", + "G | \n", + "A | \n", + "NaN | \n", + "... | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0.0004 | \n", + "
37024 | \n", + "ENST00000437951 | \n", + "PTCH1 | \n", + "synonymous_variant | \n", + "p.Ser1169= | \n", + "c.3507C>T | \n", + "chr9 | \n", + "95449168 | \n", + "G | \n", + "A | \n", + "nevoid basal cell carcinoma syndrome | \n", + "... | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "1 | \n", + "0 | \n", + "0 | \n", + "0.0004 | \n", + "
37025 | \n", + "ENST00000644285 | \n", + "ANKRD11 | \n", + "intron_variant | \n", + "NaN | \n", + "c.745-6013G>A | \n", + "chr16 | \n", + "89281204 | \n", + "C | \n", + "T | \n", + "NaN | \n", + "... | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0.0004 | \n", + "
37026 | \n", + "ENST00000436005 | \n", + "PNKD | \n", + "intron_variant | \n", + "NaN | \n", + "c.173-24C>T | \n", + "chr2 | \n", + "218340005 | \n", + "C | \n", + "T | \n", + "NaN | \n", + "... | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0 | \n", + "0.0004 | \n", + "
5 rows ร 257 columns
\n", + "\n", + " | consequence | \n", + "so | \n", + "DITTO | \n", + "cadd.phred | \n", + "spliceai | \n", + "gene | \n", + "protein_hgvs | \n", + "cdna_hgvs | \n", + "chrom | \n", + "pos | \n", + "ref_base | \n", + "alt_base | \n", + "transcript | \n", + "clingen.classification | \n", + "class | \n", + "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
11729 | \n", + "start_retained_variant | \n", + "start retained | \n", + "2.516013e-02 | \n", + "9.129 | \n", + "0.0004 | \n", + "DOLK | \n", + "p.Met1= | \n", + "c.1dup | \n", + "chr9 | \n", + "128947303 | \n", + "- | \n", + "T | \n", + "ENST00000372586 | \n", + "NaN | \n", + "0 | \n", + "
25154 | \n", + "stop_retained_variant | \n", + "stop retained | \n", + "5.960464e-08 | \n", + "6.865 | \n", + "0.0004 | \n", + "REST | \n", + "p.Ter315= | \n", + "c.944A>G | \n", + "chr4 | \n", + "56932151 | \n", + "A | \n", + "G | \n", + "ENST00000622863 | \n", + "NaN | \n", + "0 | \n", + "
30215 | \n", + "stop_retained_variant | \n", + "stop retained | \n", + "0.000000e+00 | \n", + "4.401 | \n", + "0.0004 | \n", + "SLC26A2 | \n", + "p.Ter740= | \n", + "c.2220A>G | \n", + "chr5 | \n", + "149981813 | \n", + "A | \n", + "G | \n", + "ENST00000286298 | \n", + "NaN | \n", + "0 | \n", + "
31259 | \n", + "stop_retained_variant | \n", + "stop retained | \n", + "0.000000e+00 | \n", + "6.762 | \n", + "0.0004 | \n", + "GM2A | \n", + "p.Ter194= | \n", + "c.582A>G | \n", + "chr5 | \n", + "151267451 | \n", + "A | \n", + "G | \n", + "ENST00000357164 | \n", + "NaN | \n", + "0 | \n", + "
35592 | \n", + "stop_retained_variant | \n", + "stop retained | \n", + "0.000000e+00 | \n", + "7.377 | \n", + "0.0004 | \n", + "CEACAM16 | \n", + "p.Ter426= | \n", + "c.1278A>G | \n", + "chr19 | \n", + "44710506 | \n", + "A | \n", + "G | \n", + "ENST00000587331 | \n", + "Moderate | \n", + "0 | \n", + "
35803 | \n", + "stop_retained_variant | \n", + "stop retained | \n", + "0.000000e+00 | \n", + "8.260 | \n", + "0.0004 | \n", + "BLOC1S3 | \n", + "p.Ter203= | \n", + "c.609G>A | \n", + "chr19 | \n", + "45179905 | \n", + "G | \n", + "A | \n", + "ENST00000587722 | \n", + "NaN | \n", + "0 | \n", + "
class | \n", + "0 | \n", + "1 | \n", + "
---|---|---|
chrom | \n", + "\n", + " | \n", + " |
chr1 | \n", + "62.0 | \n", + "2.0 | \n", + "
chr10 | \n", + "31.0 | \n", + "NaN | \n", + "
chr11 | \n", + "72.0 | \n", + "NaN | \n", + "
chr12 | \n", + "32.0 | \n", + "NaN | \n", + "
chr13 | \n", + "32.0 | \n", + "NaN | \n", + "
chr14 | \n", + "14.0 | \n", + "NaN | \n", + "
chr15 | \n", + "28.0 | \n", + "NaN | \n", + "
chr16 | \n", + "55.0 | \n", + "2.0 | \n", + "
chr17 | \n", + "131.0 | \n", + "2.0 | \n", + "
chr18 | \n", + "9.0 | \n", + "NaN | \n", + "
chr19 | \n", + "34.0 | \n", + "1.0 | \n", + "
chr2 | \n", + "96.0 | \n", + "2.0 | \n", + "
chr20 | \n", + "9.0 | \n", + "NaN | \n", + "
chr21 | \n", + "15.0 | \n", + "NaN | \n", + "
chr22 | \n", + "23.0 | \n", + "NaN | \n", + "
chr3 | \n", + "49.0 | \n", + "NaN | \n", + "
chr4 | \n", + "17.0 | \n", + "NaN | \n", + "
chr5 | \n", + "30.0 | \n", + "1.0 | \n", + "
chr6 | \n", + "40.0 | \n", + "1.0 | \n", + "
chr7 | \n", + "57.0 | \n", + "1.0 | \n", + "
chr8 | \n", + "24.0 | \n", + "2.0 | \n", + "
chr9 | \n", + "36.0 | \n", + "NaN | \n", + "
chrX | \n", + "44.0 | \n", + "NaN | \n", + "
\n", + " | consequence | \n", + "so | \n", + "DITTO | \n", + "clingen.classification | \n", + "class | \n", + "cadd.phred | \n", + "spliceai | \n", + "gene | \n", + "protein_hgvs | \n", + "cdna_hgvs | \n", + "chrom | \n", + "pos | \n", + "ref_base | \n", + "alt_base | \n", + "transcript | \n", + "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
11255 | \n", + "2kb_downstream_variant | \n", + "intergenic | \n", + "0.051278 | \n", + "Definitive | \n", + "0 | \n", + "4.872 | \n", + "0.0004 | \n", + "TMPRSS3 | \n", + "NaN | \n", + "c.*1810C>T | \n", + "chr21 | \n", + "42380172 | \n", + "G | \n", + "A | \n", + "ENST00000398397 | \n", + "
11532 | \n", + "2kb_downstream_variant | \n", + "intergenic | \n", + "0.032473 | \n", + "NaN | \n", + "0 | \n", + "17.230 | \n", + "0.0004 | \n", + "ITGB2 | \n", + "NaN | \n", + "c.*989G>A | \n", + "chr21 | \n", + "44907014 | \n", + "C | \n", + "T | \n", + "ENST00000397846 | \n", + "
13660 | \n", + "2kb_downstream_variant | \n", + "intergenic | \n", + "0.002689 | \n", + "NaN | \n", + "0 | \n", + "9.200 | \n", + "0.0004 | \n", + "DYRK1A | \n", + "NaN | \n", + "c.*394C>T | \n", + "chr21 | \n", + "37512348 | \n", + "C | \n", + "T | \n", + "ENST00000398956 | \n", + "
13910 | \n", + "2kb_downstream_variant | \n", + "intergenic | \n", + "0.002124 | \n", + "NaN | \n", + "0 | \n", + "9.559 | \n", + "0.0004 | \n", + "DYRK1A | \n", + "NaN | \n", + "c.*253A>G | \n", + "chr21 | \n", + "37512207 | \n", + "A | \n", + "G | \n", + "ENST00000398956 | \n", + "
15131 | \n", + "2kb_downstream_variant | \n", + "intergenic | \n", + "0.000795 | \n", + "NaN | \n", + "0 | \n", + "17.750 | \n", + "0.0004 | \n", + "DYRK1A | \n", + "NaN | \n", + "c.*500A>G | \n", + "chr21 | \n", + "37512454 | \n", + "A | \n", + "G | \n", + "ENST00000398956 | \n", + "
15214 | \n", + "2kb_downstream_variant | \n", + "intergenic | \n", + "0.000741 | \n", + "Moderate | \n", + "0 | \n", + "2.017 | \n", + "0.0004 | \n", + "KCNE1 | \n", + "NaN | \n", + "c.*1815A>G | \n", + "chr21 | \n", + "34447430 | \n", + "T | \n", + "C | \n", + "ENST00000399284 | \n", + "
15494 | \n", + "2kb_upstream_variant | \n", + "intergenic | \n", + "0.000593 | \n", + "NaN | \n", + "0 | \n", + "5.690 | \n", + "0.0004 | \n", + "SOD1 | \n", + "NaN | \n", + "c.-156G>C | \n", + "chr21 | \n", + "31659614 | \n", + "G | \n", + "C | \n", + "ENST00000389995 | \n", + "
19224 | \n", + "2kb_downstream_variant | \n", + "intergenic | \n", + "0.000025 | \n", + "NaN | \n", + "0 | \n", + "21.000 | \n", + "0.0004 | \n", + "SLC19A1 | \n", + "NaN | \n", + "c.*3457C>A | \n", + "chr21 | \n", + "45512201 | \n", + "G | \n", + "T | \n", + "ENST00000311124 | \n", + "
33581 | \n", + "2kb_upstream_variant | \n", + "intergenic | \n", + "0.000000 | \n", + "NaN | \n", + "0 | \n", + "10.440 | \n", + "0.0004 | \n", + "CRYAA | \n", + "NaN | \n", + "c.-620C>T | \n", + "chr21 | \n", + "43169105 | \n", + "C | \n", + "T | \n", + "ENST00000398133 | \n", + "
class | \n", + "0 | \n", + "1 | \n", + "
---|---|---|
consequence | \n", + "\n", + " | \n", + " |
2kb_downstream_variant,NMD_transcript_variant | \n", + "38.0 | \n", + "305.0 | \n", + "
2kb_downstream_variant,NSD_transcript | \n", + "3.0 | \n", + "1.0 | \n", + "
2kb_upstream_variant,NMD_transcript_variant | \n", + "4.0 | \n", + "45.0 | \n", + "
2kb_upstream_variant,NSD_transcript | \n", + "1.0 | \n", + "6.0 | \n", + "
NMD_transcript_variant | \n", + "4.0 | \n", + "1.0 | \n", + "
NMD_transcript_variant,3_prime_UTR_variant | \n", + "220.0 | \n", + "1185.0 | \n", + "
NMD_transcript_variant,5_prime_UTR_variant | \n", + "1.0 | \n", + "17.0 | \n", + "
NMD_transcript_variant,splice_site_variant | \n", + "1.0 | \n", + "NaN | \n", + "
NMD_transcript_variant,stop_gained | \n", + "87.0 | \n", + "8.0 | \n", + "
NMD_transcript_variant,stop_lost | \n", + "NaN | \n", + "2.0 | \n", + "
NMD_transcript_variant,synonymous_variant | \n", + "5.0 | \n", + "349.0 | \n", + "
NSD_transcript | \n", + "4.0 | \n", + "26.0 | \n", + "
NSD_transcript,5_prime_UTR_variant | \n", + "NaN | \n", + "1.0 | \n", + "
complex_substitution,frameshift_elongation,NMD_transcript_variant | \n", + "1.0 | \n", + "NaN | \n", + "
complex_substitution,frameshift_elongation,intron_variant,NMD_transcript_variant | \n", + "2.0 | \n", + "NaN | \n", + "
complex_substitution,frameshift_truncation,NMD_transcript_variant | \n", + "3.0 | \n", + "NaN | \n", + "
exon_loss_variant,frameshift_truncation,NMD_transcript_variant | \n", + "1.0 | \n", + "NaN | \n", + "
frameshift_elongation,NMD_transcript_variant | \n", + "34.0 | \n", + "1.0 | \n", + "
frameshift_elongation,NMD_transcript_variant,stop_gained | \n", + "2.0 | \n", + "NaN | \n", + "
frameshift_truncation,NMD_transcript_variant | \n", + "53.0 | \n", + "NaN | \n", + "
frameshift_truncation,NMD_transcript_variant,stop_gained | \n", + "6.0 | \n", + "NaN | \n", + "
inframe_deletion,NMD_transcript_variant | \n", + "1.0 | \n", + "1.0 | \n", + "
inframe_insertion,NMD_transcript_variant | \n", + "1.0 | \n", + "1.0 | \n", + "
intron_variant,NMD_transcript_variant | \n", + "63.0 | \n", + "584.0 | \n", + "
intron_variant,NMD_transcript_variant,splice_site_variant | \n", + "106.0 | \n", + "3.0 | \n", + "
intron_variant,NSD_transcript | \n", + "NaN | \n", + "4.0 | \n", + "
missense_variant,NMD_transcript_variant | \n", + "50.0 | \n", + "179.0 | \n", + "
missense_variant,start_lost,NMD_transcript_variant | \n", + "4.0 | \n", + "1.0 | \n", + "
\n", + " | mavedb.score | \n", + "DITTO | \n", + "
---|---|---|
0 | \n", + "0.867714 | \n", + "1.0 | \n", + "
1 | \n", + "0.867714 | \n", + "1.0 | \n", + "
2 | \n", + "0.867714 | \n", + "1.0 | \n", + "
3 | \n", + "0.867714 | \n", + "1.0 | \n", + "
4 | \n", + "0.867714 | \n", + "1.0 | \n", + "
\n", + " | mavedb.score | \n", + "DITTO | \n", + "
---|---|---|
0 | \n", + "0.867714 | \n", + "1.0 | \n", + "
1 | \n", + "1.085198 | \n", + "1.0 | \n", + "
2 | \n", + "0.873427 | \n", + "1.0 | \n", + "
3 | \n", + "-0.006227 | \n", + "1.0 | \n", + "
4 | \n", + "0.156953 | \n", + "1.0 | \n", + "
extra_vcf_info.CLNSIG | \n", + "Benign | \n", + "Benign/Likely_benign | \n", + "Conflicting_interpretations_of_pathogenicity | \n", + "Likely_benign | \n", + "Likely_pathogenic | \n", + "Pathogenic | \n", + "Pathogenic/Likely_pathogenic | \n", + "Uncertain_significance | \n", + "
---|---|---|---|---|---|---|---|---|
so | \n", + "\n", + " | \n", + " | \n", + " | \n", + " | \n", + " | \n", + " | \n", + " | \n", + " |
intron_variant | \n", + "362725.0 | \n", + "41009.0 | \n", + "91923.0 | \n", + "756372.0 | \n", + "17725.0 | \n", + "37603.0 | \n", + "5736.0 | \n", + "407206.0 | \n", + "
synonymous_variant | \n", + "109885.0 | \n", + "65090.0 | \n", + "85163.0 | \n", + "1134299.0 | \n", + "1065.0 | \n", + "1364.0 | \n", + "426.0 | \n", + "67647.0 | \n", + "
missense_variant | \n", + "80315.0 | \n", + "33923.0 | \n", + "224600.0 | \n", + "142639.0 | \n", + "86905.0 | \n", + "74138.0 | \n", + "25632.0 | \n", + "2769515.0 | \n", + "
intron_variant,NMD_transcript_variant | \n", + "42402.0 | \n", + "5911.0 | \n", + "17076.0 | \n", + "99950.0 | \n", + "5082.0 | \n", + "7134.0 | \n", + "1697.0 | \n", + "92851.0 | \n", + "
3_prime_UTR_variant | \n", + "30573.0 | \n", + "5160.0 | \n", + "6730.0 | \n", + "25982.0 | \n", + "1610.0 | \n", + "3713.0 | \n", + "444.0 | \n", + "105404.0 | \n", + "
intron_variant,processed_transcript | \n", + "25025.0 | \n", + "3550.0 | \n", + "9357.0 | \n", + "48739.0 | \n", + "8988.0 | \n", + "9919.0 | \n", + "2013.0 | \n", + "79143.0 | \n", + "
2kb_downstream_variant | \n", + "21024.0 | \n", + "4152.0 | \n", + "9240.0 | \n", + "38903.0 | \n", + "5012.0 | \n", + "7613.0 | \n", + "1685.0 | \n", + "126609.0 | \n", + "
2kb_upstream_variant | \n", + "20854.0 | \n", + "2925.0 | \n", + "7068.0 | \n", + "37942.0 | \n", + "3687.0 | \n", + "6160.0 | \n", + "1438.0 | \n", + "88889.0 | \n", + "
intron_variant,lnc_RNA | \n", + "17970.0 | \n", + "8461.0 | \n", + "67259.0 | \n", + "55714.0 | \n", + "35200.0 | \n", + "20851.0 | \n", + "6446.0 | \n", + "330377.0 | \n", + "
processed_transcript | \n", + "15543.0 | \n", + "6827.0 | \n", + "27208.0 | \n", + "62927.0 | \n", + "12610.0 | \n", + "23769.0 | \n", + "4577.0 | \n", + "284455.0 | \n", + "
NMD_transcript_variant,3_prime_UTR_variant | \n", + "14514.0 | \n", + "7915.0 | \n", + "33577.0 | \n", + "79381.0 | \n", + "14063.0 | \n", + "30740.0 | \n", + "5681.0 | \n", + "309360.0 | \n", + "
2kb_downstream_variant,processed_transcript | \n", + "11849.0 | \n", + "3346.0 | \n", + "10288.0 | \n", + "31757.0 | \n", + "6545.0 | \n", + "9972.0 | \n", + "2070.0 | \n", + "114158.0 | \n", + "
5_prime_UTR_variant | \n", + "11491.0 | \n", + "2436.0 | \n", + "6354.0 | \n", + "24143.0 | \n", + "2568.0 | \n", + "10018.0 | \n", + "889.0 | \n", + "60877.0 | \n", + "
2kb_upstream_variant,processed_transcript | \n", + "9914.0 | \n", + "2335.0 | \n", + "7063.0 | \n", + "25995.0 | \n", + "4235.0 | \n", + "6601.0 | \n", + "1355.0 | \n", + "78705.0 | \n", + "
2kb_upstream_variant,lnc_RNA | \n", + "6756.0 | \n", + "1689.0 | \n", + "5231.0 | \n", + "18768.0 | \n", + "3078.0 | \n", + "4261.0 | \n", + "841.0 | \n", + "60727.0 | \n", + "
2kb_downstream_variant,NMD_transcript_variant | \n", + "5946.0 | \n", + "1710.0 | \n", + "7184.0 | \n", + "17539.0 | \n", + "2621.0 | \n", + "6226.0 | \n", + "1016.0 | \n", + "54298.0 | \n", + "
NMD_transcript_variant,synonymous_variant | \n", + "5552.0 | \n", + "3430.0 | \n", + "6154.0 | \n", + "68777.0 | \n", + "266.0 | \n", + "429.0 | \n", + "128.0 | \n", + "9444.0 | \n", + "
2kb_upstream_variant,NMD_transcript_variant | \n", + "5458.0 | \n", + "799.0 | \n", + "1835.0 | \n", + "9253.0 | \n", + "717.0 | \n", + "1326.0 | \n", + "244.0 | \n", + "22972.0 | \n", + "
missense_variant,NMD_transcript_variant | \n", + "5320.0 | \n", + "2118.0 | \n", + "14236.0 | \n", + "11660.0 | \n", + "6379.0 | \n", + "5951.0 | \n", + "1782.0 | \n", + "202928.0 | \n", + "
2kb_downstream_variant,lnc_RNA | \n", + "2862.0 | \n", + "841.0 | \n", + "4514.0 | \n", + "7315.0 | \n", + "1835.0 | \n", + "1696.0 | \n", + "426.0 | \n", + "35978.0 | \n", + "
lnc_RNA | \n", + "2785.0 | \n", + "701.0 | \n", + "3473.0 | \n", + "8412.0 | \n", + "1615.0 | \n", + "1767.0 | \n", + "554.0 | \n", + "32306.0 | \n", + "
NMD_transcript_variant,5_prime_UTR_variant | \n", + "1644.0 | \n", + "363.0 | \n", + "1021.0 | \n", + "3144.0 | \n", + "165.0 | \n", + "406.0 | \n", + "47.0 | \n", + "7399.0 | \n", + "
inframe_deletion | \n", + "923.0 | \n", + "707.0 | \n", + "3254.0 | \n", + "1912.0 | \n", + "2970.0 | \n", + "2826.0 | \n", + "664.0 | \n", + "30306.0 | \n", + "
2kb_downstream_variant,miRNA | \n", + "642.0 | \n", + "235.0 | \n", + "616.0 | \n", + "1894.0 | \n", + "340.0 | \n", + "428.0 | \n", + "83.0 | \n", + "5548.0 | \n", + "
inframe_insertion | \n", + "615.0 | \n", + "471.0 | \n", + "1374.0 | \n", + "940.0 | \n", + "746.0 | \n", + "694.0 | \n", + "78.0 | \n", + "12286.0 | \n", + "
2kb_upstream_variant,miRNA | \n", + "509.0 | \n", + "126.0 | \n", + "516.0 | \n", + "1647.0 | \n", + "359.0 | \n", + "504.0 | \n", + "99.0 | \n", + "4955.0 | \n", + "
stop_gained | \n", + "358.0 | \n", + "82.0 | \n", + "3688.0 | \n", + "933.0 | \n", + "28980.0 | \n", + "120930.0 | \n", + "14039.0 | \n", + "21134.0 | \n", + "
frameshift_truncation | \n", + "336.0 | \n", + "23.0 | \n", + "2172.0 | \n", + "602.0 | \n", + "25262.0 | \n", + "101852.0 | \n", + "8276.0 | \n", + "15654.0 | \n", + "
frameshift_elongation | \n", + "302.0 | \n", + "59.0 | \n", + "1229.0 | \n", + "508.0 | \n", + "11999.0 | \n", + "51298.0 | \n", + "3517.0 | \n", + "8452.0 | \n", + "
intron_variant,splice_site_variant | \n", + "281.0 | \n", + "63.0 | \n", + "3461.0 | \n", + "748.0 | \n", + "49778.0 | \n", + "38420.0 | \n", + "9212.0 | \n", + "15210.0 | \n", + "
intron_variant,NSD_transcript | \n", + "241.0 | \n", + "28.0 | \n", + "42.0 | \n", + "419.0 | \n", + "33.0 | \n", + "25.0 | \n", + "3.0 | \n", + "262.0 | \n", + "
NSD_transcript | \n", + "193.0 | \n", + "69.0 | \n", + "963.0 | \n", + "1094.0 | \n", + "107.0 | \n", + "746.0 | \n", + "38.0 | \n", + "1867.0 | \n", + "
complex_substitution,missense_variant | \n", + "189.0 | \n", + "90.0 | \n", + "614.0 | \n", + "813.0 | \n", + "507.0 | \n", + "727.0 | \n", + "90.0 | \n", + "9417.0 | \n", + "
2kb_upstream_variant,misc_RNA | \n", + "189.0 | \n", + "61.0 | \n", + "175.0 | \n", + "952.0 | \n", + "120.0 | \n", + "199.0 | \n", + "34.0 | \n", + "2665.0 | \n", + "
2kb_downstream_variant,misc_RNA | \n", + "186.0 | \n", + "47.0 | \n", + "158.0 | \n", + "698.0 | \n", + "104.0 | \n", + "171.0 | \n", + "42.0 | \n", + "2138.0 | \n", + "
intron_variant,polymorphic_pseudogene | \n", + "175.0 | \n", + "6.0 | \n", + "36.0 | \n", + "352.0 | \n", + "39.0 | \n", + "20.0 | \n", + "7.0 | \n", + "249.0 | \n", + "
2kb_upstream_variant,snoRNA | \n", + "156.0 | \n", + "15.0 | \n", + "36.0 | \n", + "147.0 | \n", + "62.0 | \n", + "45.0 | \n", + "4.0 | \n", + "765.0 | \n", + "
polymorphic_pseudogene | \n", + "126.0 | \n", + "101.0 | \n", + "188.0 | \n", + "480.0 | \n", + "144.0 | \n", + "250.0 | \n", + "67.0 | \n", + "2105.0 | \n", + "
2kb_downstream_variant,snoRNA | \n", + "124.0 | \n", + "21.0 | \n", + "70.0 | \n", + "343.0 | \n", + "84.0 | \n", + "111.0 | \n", + "10.0 | \n", + "1112.0 | \n", + "
2kb_downstream_variant,snRNA | \n", + "117.0 | \n", + "27.0 | \n", + "127.0 | \n", + "463.0 | \n", + "56.0 | \n", + "105.0 | \n", + "24.0 | \n", + "1487.0 | \n", + "
2kb_downstream_variant,NSD_transcript | \n", + "107.0 | \n", + "16.0 | \n", + "1353.0 | \n", + "778.0 | \n", + "72.0 | \n", + "1121.0 | \n", + "32.0 | \n", + "395.0 | \n", + "
missense_variant,start_lost | \n", + "82.0 | \n", + "21.0 | \n", + "532.0 | \n", + "157.0 | \n", + "1153.0 | \n", + "2142.0 | \n", + "527.0 | \n", + "3721.0 | \n", + "
2kb_upstream_variant,snRNA | \n", + "79.0 | \n", + "17.0 | \n", + "44.0 | \n", + "200.0 | \n", + "36.0 | \n", + "55.0 | \n", + "13.0 | \n", + "822.0 | \n", + "
2kb_downstream_variant,polymorphic_pseudogene | \n", + "71.0 | \n", + "6.0 | \n", + "11.0 | \n", + "18.0 | \n", + "NaN | \n", + "5.0 | \n", + "NaN | \n", + "177.0 | \n", + "
2kb_upstream_variant,NSD_transcript | \n", + "70.0 | \n", + "24.0 | \n", + "59.0 | \n", + "253.0 | \n", + "19.0 | \n", + "26.0 | \n", + "4.0 | \n", + "606.0 | \n", + "
NMD_transcript_variant,stop_gained | \n", + "65.0 | \n", + "23.0 | \n", + "355.0 | \n", + "264.0 | \n", + "1893.0 | \n", + "9635.0 | \n", + "1312.0 | \n", + "1562.0 | \n", + "
stop_lost | \n", + "60.0 | \n", + "12.0 | \n", + "106.0 | \n", + "137.0 | \n", + "227.0 | \n", + "284.0 | \n", + "20.0 | \n", + "1746.0 | \n", + "
2kb_upstream_variant,polymorphic_pseudogene | \n", + "53.0 | \n", + "5.0 | \n", + "10.0 | \n", + "32.0 | \n", + "14.0 | \n", + "NaN | \n", + "NaN | \n", + "168.0 | \n", + "
stop_retained_variant | \n", + "52.0 | \n", + "13.0 | \n", + "66.0 | \n", + "508.0 | \n", + "NaN | \n", + "6.0 | \n", + "NaN | \n", + "245.0 | \n", + "
splice_site_variant | \n", + "50.0 | \n", + "29.0 | \n", + "195.0 | \n", + "176.0 | \n", + "2379.0 | \n", + "1671.0 | \n", + "339.0 | \n", + "1025.0 | \n", + "
intron_variant,NMD_transcript_variant,splice_site_variant | \n", + "49.0 | \n", + "14.0 | \n", + "1186.0 | \n", + "143.0 | \n", + "12383.0 | \n", + "7515.0 | \n", + "2225.0 | \n", + "2632.0 | \n", + "
inframe_deletion,NMD_transcript_variant | \n", + "48.0 | \n", + "46.0 | \n", + "137.0 | \n", + "65.0 | \n", + "74.0 | \n", + "98.0 | \n", + "16.0 | \n", + "1103.0 | \n", + "
inframe_insertion,NMD_transcript_variant | \n", + "42.0 | \n", + "27.0 | \n", + "98.0 | \n", + "61.0 | \n", + "28.0 | \n", + "29.0 | \n", + "1.0 | \n", + "613.0 | \n", + "
polymorphic_pseudogene,3_prime_UTR_variant | \n", + "38.0 | \n", + "8.0 | \n", + "27.0 | \n", + "35.0 | \n", + "2.0 | \n", + "NaN | \n", + "NaN | \n", + "374.0 | \n", + "
2kb_upstream_variant,5_prime_UTR_variant | \n", + "31.0 | \n", + "NaN | \n", + "3.0 | \n", + "1.0 | \n", + "5.0 | \n", + "43.0 | \n", + "NaN | \n", + "37.0 | \n", + "
complex_substitution,frameshift_elongation,intron_variant | \n", + "26.0 | \n", + "5.0 | \n", + "99.0 | \n", + "37.0 | \n", + "1173.0 | \n", + "968.0 | \n", + "159.0 | \n", + "371.0 | \n", + "
missense_variant,start_lost,NMD_transcript_variant | \n", + "26.0 | \n", + "3.0 | \n", + "175.0 | \n", + "47.0 | \n", + "445.0 | \n", + "691.0 | \n", + "234.0 | \n", + "944.0 | \n", + "
miRNA | \n", + "26.0 | \n", + "5.0 | \n", + "6.0 | \n", + "93.0 | \n", + "14.0 | \n", + "14.0 | \n", + "2.0 | \n", + "82.0 | \n", + "
2kb_upstream_variant,ribozyme | \n", + "24.0 | \n", + "12.0 | \n", + "52.0 | \n", + "127.0 | \n", + "4.0 | \n", + "39.0 | \n", + "11.0 | \n", + "89.0 | \n", + "
snoRNA | \n", + "22.0 | \n", + "2.0 | \n", + "4.0 | \n", + "12.0 | \n", + "2.0 | \n", + "17.0 | \n", + "2.0 | \n", + "71.0 | \n", + "
frameshift_truncation,stop_gained | \n", + "18.0 | \n", + "10.0 | \n", + "100.0 | \n", + "21.0 | \n", + "1203.0 | \n", + "6366.0 | \n", + "558.0 | \n", + "677.0 | \n", + "
frameshift_elongation,stop_gained | \n", + "14.0 | \n", + "1.0 | \n", + "85.0 | \n", + "21.0 | \n", + "559.0 | \n", + "2633.0 | \n", + "193.0 | \n", + "370.0 | \n", + "
frameshift_truncation,NMD_transcript_variant | \n", + "12.0 | \n", + "3.0 | \n", + "136.0 | \n", + "19.0 | \n", + "471.0 | \n", + "4176.0 | \n", + "383.0 | \n", + "281.0 | \n", + "
complex_substitution | \n", + "12.0 | \n", + "2.0 | \n", + "45.0 | \n", + "21.0 | \n", + "89.0 | \n", + "140.0 | \n", + "18.0 | \n", + "1091.0 | \n", + "
complex_substitution,inframe_deletion | \n", + "11.0 | \n", + "NaN | \n", + "19.0 | \n", + "20.0 | \n", + "83.0 | \n", + "72.0 | \n", + "1.0 | \n", + "328.0 | \n", + "
polymorphic_pseudogene,5_prime_UTR_variant | \n", + "10.0 | \n", + "6.0 | \n", + "34.0 | \n", + "32.0 | \n", + "39.0 | \n", + "66.0 | \n", + "24.0 | \n", + "217.0 | \n", + "
NMD_transcript_variant,stop_retained_variant | \n", + "9.0 | \n", + "2.0 | \n", + "7.0 | \n", + "33.0 | \n", + "11.0 | \n", + "2.0 | \n", + "3.0 | \n", + "118.0 | \n", + "
snRNA | \n", + "8.0 | \n", + "NaN | \n", + "9.0 | \n", + "12.0 | \n", + "8.0 | \n", + "9.0 | \n", + "3.0 | \n", + "108.0 | \n", + "
NMD_transcript_variant | \n", + "7.0 | \n", + "14.0 | \n", + "39.0 | \n", + "55.0 | \n", + "38.0 | \n", + "51.0 | \n", + "20.0 | \n", + "250.0 | \n", + "
2kb_upstream_variant,scaRNA | \n", + "7.0 | \n", + "NaN | \n", + "1.0 | \n", + "11.0 | \n", + "9.0 | \n", + "5.0 | \n", + "NaN | \n", + "67.0 | \n", + "
NSD_transcript,5_prime_UTR_variant | \n", + "7.0 | \n", + "3.0 | \n", + "2.0 | \n", + "5.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "22.0 | \n", + "
NMD_transcript_variant,stop_lost | \n", + "6.0 | \n", + "3.0 | \n", + "42.0 | \n", + "85.0 | \n", + "31.0 | \n", + "51.0 | \n", + "13.0 | \n", + "353.0 | \n", + "
2kb_downstream_variant,3_prime_UTR_variant | \n", + "6.0 | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "3.0 | \n", + "35.0 | \n", + "NaN | \n", + "12.0 | \n", + "
2kb_upstream_variant,rRNA | \n", + "6.0 | \n", + "1.0 | \n", + "NaN | \n", + "10.0 | \n", + "1.0 | \n", + "NaN | \n", + "NaN | \n", + "23.0 | \n", + "
misc_RNA | \n", + "6.0 | \n", + "NaN | \n", + "9.0 | \n", + "37.0 | \n", + "1.0 | \n", + "NaN | \n", + "NaN | \n", + "54.0 | \n", + "
complex_substitution,inframe_insertion,intron_variant | \n", + "5.0 | \n", + "16.0 | \n", + "54.0 | \n", + "29.0 | \n", + "586.0 | \n", + "363.0 | \n", + "38.0 | \n", + "203.0 | \n", + "
frameshift_truncation,stop_lost | \n", + "5.0 | \n", + "1.0 | \n", + "31.0 | \n", + "3.0 | \n", + "15.0 | \n", + "16.0 | \n", + "3.0 | \n", + "81.0 | \n", + "
frameshift_elongation,NMD_transcript_variant | \n", + "4.0 | \n", + "2.0 | \n", + "117.0 | \n", + "11.0 | \n", + "279.0 | \n", + "2275.0 | \n", + "150.0 | \n", + "243.0 | \n", + "
exon_loss_variant,frameshift_truncation | \n", + "4.0 | \n", + "NaN | \n", + "9.0 | \n", + "15.0 | \n", + "186.0 | \n", + "902.0 | \n", + "4.0 | \n", + "131.0 | \n", + "
complex_substitution,missense_variant,NMD_transcript_variant | \n", + "4.0 | \n", + "NaN | \n", + "31.0 | \n", + "21.0 | \n", + "27.0 | \n", + "45.0 | \n", + "2.0 | \n", + "298.0 | \n", + "
complex_substitution,synonymous_variant | \n", + "4.0 | \n", + "21.0 | \n", + "16.0 | \n", + "237.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "48.0 | \n", + "
frameshift_truncation,stop_retained_variant | \n", + "3.0 | \n", + "NaN | \n", + "13.0 | \n", + "5.0 | \n", + "NaN | \n", + "1.0 | \n", + "NaN | \n", + "17.0 | \n", + "
frameshift_elongation,stop_retained_variant | \n", + "3.0 | \n", + "NaN | \n", + "7.0 | \n", + "15.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "37.0 | \n", + "
inframe_insertion,stop_gained | \n", + "2.0 | \n", + "2.0 | \n", + "NaN | \n", + "NaN | \n", + "41.0 | \n", + "199.0 | \n", + "24.0 | \n", + "45.0 | \n", + "
NMD_transcript_variant,splice_site_variant | \n", + "2.0 | \n", + "NaN | \n", + "8.0 | \n", + "3.0 | \n", + "79.0 | \n", + "84.0 | \n", + "10.0 | \n", + "33.0 | \n", + "
frameshift_elongation,stop_lost | \n", + "2.0 | \n", + "NaN | \n", + "12.0 | \n", + "6.0 | \n", + "13.0 | \n", + "35.0 | \n", + "2.0 | \n", + "81.0 | \n", + "
2kb_downstream_variant,NMD_transcript_variant,3_prime_UTR_variant | \n", + "2.0 | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "3.0 | \n", + "9.0 | \n", + "NaN | \n", + "3.0 | \n", + "
2kb_upstream_variant,NMD_transcript_variant,5_prime_UTR_variant | \n", + "2.0 | \n", + "NaN | \n", + "3.0 | \n", + "2.0 | \n", + "NaN | \n", + "7.0 | \n", + "NaN | \n", + "8.0 | \n", + "
2kb_downstream_variant,scaRNA | \n", + "2.0 | \n", + "1.0 | \n", + "2.0 | \n", + "8.0 | \n", + "1.0 | \n", + "4.0 | \n", + "NaN | \n", + "73.0 | \n", + "
ribozyme | \n", + "2.0 | \n", + "1.0 | \n", + "11.0 | \n", + "4.0 | \n", + "3.0 | \n", + "4.0 | \n", + "10.0 | \n", + "144.0 | \n", + "
inframe_insertion,stop_retained_variant | \n", + "2.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "22.0 | \n", + "
inframe_deletion,stop_gained | \n", + "1.0 | \n", + "NaN | \n", + "2.0 | \n", + "4.0 | \n", + "46.0 | \n", + "175.0 | \n", + "11.0 | \n", + "21.0 | \n", + "
start_lost,5_prime_UTR_variant | \n", + "1.0 | \n", + "NaN | \n", + "9.0 | \n", + "NaN | \n", + "41.0 | \n", + "133.0 | \n", + "11.0 | \n", + "137.0 | \n", + "
frameshift_truncation,start_lost | \n", + "1.0 | \n", + "NaN | \n", + "5.0 | \n", + "2.0 | \n", + "36.0 | \n", + "69.0 | \n", + "3.0 | \n", + "57.0 | \n", + "
start_retained_variant | \n", + "1.0 | \n", + "1.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "3.0 | \n", + "1.0 | \n", + "11.0 | \n", + "
frameshift_truncation,stop_lost,stop_retained_variant,3_prime_UTR_variant | \n", + "1.0 | \n", + "5.0 | \n", + "10.0 | \n", + "18.0 | \n", + "NaN | \n", + "1.0 | \n", + "NaN | \n", + "15.0 | \n", + "
2kb_downstream_variant,ribozyme | \n", + "1.0 | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "17.0 | \n", + "
complex_substitution,intron_variant,synonymous_variant | \n", + "1.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "
frameshift_truncation,stop_lost,synonymous_variant,3_prime_UTR_variant | \n", + "1.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "3.0 | \n", + "
complex_substitution,frameshift_truncation | \n", + "NaN | \n", + "NaN | \n", + "46.0 | \n", + "10.0 | \n", + "1728.0 | \n", + "4168.0 | \n", + "179.0 | \n", + "465.0 | \n", + "
complex_substitution,frameshift_elongation | \n", + "NaN | \n", + "NaN | \n", + "31.0 | \n", + "1.0 | \n", + "801.0 | \n", + "1764.0 | \n", + "76.0 | \n", + "253.0 | \n", + "
complex_substitution,stop_gained | \n", + "NaN | \n", + "NaN | \n", + "20.0 | \n", + "2.0 | \n", + "88.0 | \n", + "703.0 | \n", + "29.0 | \n", + "85.0 | \n", + "
exon_loss_variant,inframe_deletion | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "40.0 | \n", + "391.0 | \n", + "NaN | \n", + "18.0 | \n", + "
complex_substitution,frameshift_truncation,NMD_transcript_variant | \n", + "NaN | \n", + "NaN | \n", + "5.0 | \n", + "NaN | \n", + "80.0 | \n", + "316.0 | \n", + "16.0 | \n", + "19.0 | \n", + "
frameshift_truncation,NMD_transcript_variant,stop_gained | \n", + "NaN | \n", + "NaN | \n", + "5.0 | \n", + "1.0 | \n", + "17.0 | \n", + "232.0 | \n", + "39.0 | \n", + "7.0 | \n", + "
exon_loss_variant,intron_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "64.0 | \n", + "230.0 | \n", + "NaN | \n", + "14.0 | \n", + "
frameshift_elongation,NMD_transcript_variant,stop_gained | \n", + "NaN | \n", + "NaN | \n", + "14.0 | \n", + "1.0 | \n", + "3.0 | \n", + "120.0 | \n", + "7.0 | \n", + "9.0 | \n", + "
2kb_upstream_variant,start_lost,transcript_ablation,5_prime_UTR_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "19.0 | \n", + "110.0 | \n", + "NaN | \n", + "17.0 | \n", + "
2kb_downstream_variant,stop_lost,3_prime_UTR_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "21.0 | \n", + "105.0 | \n", + "2.0 | \n", + "3.0 | \n", + "
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complex_substitution,inframe_deletion,intron_variant,missense_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "3.0 | \n", + "
complex_substitution,inframe_deletion,start_lost,start_retained_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "
complex_substitution,inframe_deletion,stop_gained,stop_lost,stop_retained_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "
complex_substitution,inframe_insertion,intron_variant,NMD_transcript_variant,stop_lost | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "
complex_substitution,inframe_insertion,intron_variant,start_lost,start_retained_variant,NMD_transcript_variant,synonymous_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "
complex_substitution,inframe_insertion,intron_variant,start_lost,start_retained_variant,synonymous_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "6.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "
complex_substitution,start_lost,start_retained_variant,NMD_transcript_variant | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "7.0 | \n", + "
complex_substitution,stop_lost | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "NaN | \n", + "NaN | \n", + "4.0 | \n", + "
inframe_deletion,NMD_transcript_variant,stop_lost | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "
inframe_deletion,start_lost,NMD_transcript_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "
inframe_deletion,stop_gained,stop_lost,3_prime_UTR_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "3.0 | \n", + "
inframe_insertion,start_retained_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "7.0 | \n", + "
inframe_insertion,start_retained_variant,NMD_transcript_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "
\n", + " | sift.confidence | \n", + "clinvar.sig_conf | \n", + "gene | \n", + "protein_hgvs | \n", + "alt_base | \n", + "clinvar.sig | \n", + "dbsnp.rsid | \n", + "coding | \n", + "ensembl_regulatory_build.region | \n", + "exac_gene.exac_cnv_flag | \n", + "... | \n", + "cgc.class | \n", + "genehancer.feature_name | \n", + "extra_vcf_info.CLNDN | \n", + "transcript | \n", + "mutationtaster.prediction | \n", + "clinvar.rev_stat | \n", + "cgc.inheritance | \n", + "ccre_screen.bound | \n", + "ref_base | \n", + "aloft.affect | \n", + "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
0 | \n", + "High | \n", + "NaN | \n", + "OR4F5 | \n", + "p.Glu15Gly | \n", + "G | \n", + "NaN | \n", + "rs781394307 | \n", + "Yes | \n", + "NaN | \n", + "NaN | \n", + "... | \n", + "NaN | \n", + "NaN | \n", + "Inborn_genetic_diseases | \n", + "ENST00000335137 | \n", + "Polymorphism | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "A | \n", + "NaN | \n", + "
1 | \n", + "NaN | \n", + "NaN | \n", + "OR4F5 | \n", + "p.Glu36Gly | \n", + "G | \n", + "NaN | \n", + "rs781394307 | \n", + "Yes | \n", + "NaN | \n", + "NaN | \n", + "... | \n", + "NaN | \n", + "NaN | \n", + "Inborn_genetic_diseases | \n", + "ENST00000641515 | \n", + "Polymorphism | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "A | \n", + "NaN | \n", + "
2 | \n", + "High | \n", + "NaN | \n", + "OR4F5 | \n", + "p.Pro164Arg | \n", + "G | \n", + "NaN | \n", + "rs1570409925 | \n", + "Yes | \n", + "NaN | \n", + "NaN | \n", + "... | \n", + "NaN | \n", + "NaN | \n", + "Inborn_genetic_diseases | \n", + "ENST00000335137 | \n", + "Polymorphism | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "C | \n", + "NaN | \n", + "
3 | \n", + "NaN | \n", + "NaN | \n", + "OR4F5 | \n", + "p.Pro185Arg | \n", + "G | \n", + "NaN | \n", + "rs1570409925 | \n", + "Yes | \n", + "NaN | \n", + "NaN | \n", + "... | \n", + "NaN | \n", + "NaN | \n", + "Inborn_genetic_diseases | \n", + "ENST00000641515 | \n", + "Polymorphism | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "C | \n", + "NaN | \n", + "
4 | \n", + "High | \n", + "NaN | \n", + "OR4F5 | \n", + "p.Val198Met | \n", + "A | \n", + "NaN | \n", + "rs766444643 | \n", + "Yes | \n", + "NaN | \n", + "NaN | \n", + "... | \n", + "NaN | \n", + "NaN | \n", + "Inborn_genetic_diseases | \n", + "ENST00000335137 | \n", + "Polymorphism | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "G | \n", + "NaN | \n", + "
5 rows ร 40 columns
\n", + "\n", + " | extra_vcf_info.CLNREVSTAT | \n", + "
---|---|
extra_vcf_info.CLNSIG | \n", + "\n", + " |
Benign | \n", + "165653 | \n", + "
Benign/Likely_benign | \n", + "201484 | \n", + "
Likely_benign | \n", + "380955 | \n", + "
Likely_pathogenic | \n", + "40547 | \n", + "
Pathogenic | \n", + "158220 | \n", + "
Pathogenic/Likely_pathogenic | \n", + "103967 | \n", + "
Uncertain_significance | \n", + "917228 | \n", + "
\n", + " | consequence | \n", + "
---|---|
so | \n", + "\n", + " |
synonymous_variant | \n", + "298579 | \n", + "
intron_variant | \n", + "172463 | \n", + "
missense_variant | \n", + "121597 | \n", + "
NMD_transcript_variant,3_prime_UTR_variant | \n", + "48963 | \n", + "
stop_gained | \n", + "47297 | \n", + "
processed_transcript | \n", + "35593 | \n", + "
intron_variant,lnc_RNA | \n", + "34800 | \n", + "
frameshift_truncation | \n", + "31773 | \n", + "
intron_variant,NMD_transcript_variant | \n", + "28629 | \n", + "
intron_variant,splice_site_variant | \n", + "24478 | \n", + "
NMD_transcript_variant,synonymous_variant | \n", + "19730 | \n", + "
intron_variant,processed_transcript | \n", + "17787 | \n", + "
2kb_downstream_variant,processed_transcript | \n", + "15962 | \n", + "
2kb_downstream_variant | \n", + "15019 | \n", + "
frameshift_elongation | \n", + "14845 | \n", + "
2kb_upstream_variant | \n", + "14234 | \n", + "
5_prime_UTR_variant | \n", + "14018 | \n", + "
3_prime_UTR_variant | \n", + "12201 | \n", + "
2kb_upstream_variant,processed_transcript | \n", + "11537 | \n", + "
2kb_downstream_variant,NMD_transcript_variant | \n", + "10181 | \n", + "
missense_variant,NMD_transcript_variant | \n", + "9084 | \n", + "
2kb_upstream_variant,lnc_RNA | \n", + "7326 | \n", + "
intron_variant,NMD_transcript_variant,splice_site_variant | \n", + "6278 | \n", + "
NMD_transcript_variant,stop_gained | \n", + "4140 | \n", + "
2kb_downstream_variant,lnc_RNA | \n", + "3598 | \n", + "
lnc_RNA | \n", + "3556 | \n", + "
2kb_upstream_variant,NMD_transcript_variant | \n", + "3547 | \n", + "
inframe_deletion | \n", + "2728 | \n", + "
frameshift_truncation,stop_gained | \n", + "2365 | \n", + "
frameshift_truncation,NMD_transcript_variant | \n", + "1737 | \n", + "
NMD_transcript_variant,5_prime_UTR_variant | \n", + "1377 | \n", + "
2kb_downstream_variant,NSD_transcript | \n", + "1344 | \n", + "
missense_variant,start_lost | \n", + "1174 | \n", + "
NSD_transcript | \n", + "1057 | \n", + "
inframe_insertion | \n", + "1033 | \n", + "
complex_substitution,frameshift_truncation | \n", + "1022 | \n", + "
splice_site_variant | \n", + "943 | \n", + "
frameshift_elongation,stop_gained | \n", + "906 | \n", + "
2kb_downstream_variant,miRNA | \n", + "875 | \n", + "
frameshift_elongation,NMD_transcript_variant | \n", + "786 | \n", + "
2kb_upstream_variant,miRNA | \n", + "779 | \n", + "
missense_variant,start_lost,NMD_transcript_variant | \n", + "422 | \n", + "
complex_substitution,missense_variant | \n", + "409 | \n", + "
complex_substitution,frameshift_elongation | \n", + "405 | \n", + "
complex_substitution,frameshift_elongation,intron_variant | \n", + "349 | \n", + "
2kb_downstream_variant,misc_RNA | \n", + "346 | \n", + "
polymorphic_pseudogene | \n", + "331 | \n", + "
2kb_upstream_variant,misc_RNA | \n", + "267 | \n", + "
2kb_downstream_variant,snRNA | \n", + "217 | \n", + "
exon_loss_variant,frameshift_truncation | \n", + "169 | \n", + "
complex_substitution,stop_gained | \n", + "147 | \n", + "
inframe_deletion,NMD_transcript_variant | \n", + "142 | \n", + "
complex_substitution,inframe_insertion,intron_variant | \n", + "138 | \n", + "
frameshift_truncation,NMD_transcript_variant,stop_gained | \n", + "135 | \n", + "
stop_retained_variant | \n", + "132 | \n", + "
2kb_downstream_variant,snoRNA | \n", + "123 | \n", + "
intron_variant,NSD_transcript | \n", + "117 | \n", + "
2kb_upstream_variant,NSD_transcript | \n", + "116 | \n", + "
2kb_upstream_variant,snoRNA | \n", + "87 | \n", + "
stop_lost | \n", + "80 | \n", + "
2kb_upstream_variant,snRNA | \n", + "77 | \n", + "
NMD_transcript_variant | \n", + "73 | \n", + "
inframe_insertion,NMD_transcript_variant | \n", + "72 | \n", + "
polymorphic_pseudogene,5_prime_UTR_variant | \n", + "69 | \n", + "
complex_substitution,frameshift_truncation,NMD_transcript_variant | \n", + "67 | \n", + "
2kb_upstream_variant,ribozyme | \n", + "59 | \n", + "
NMD_transcript_variant,stop_lost | \n", + "54 | \n", + "
frameshift_elongation,NMD_transcript_variant,stop_gained | \n", + "53 | \n", + "
complex_substitution | \n", + "51 | \n", + "
inframe_deletion,stop_gained | \n", + "47 | \n", + "
NMD_transcript_variant,splice_site_variant | \n", + "43 | \n", + "
exon_loss_variant,frameshift_truncation,NMD_transcript_variant | \n", + "42 | \n", + "
complex_substitution,synonymous_variant | \n", + "42 | \n", + "
inframe_insertion,stop_gained | \n", + "40 | \n", + "
intron_variant,polymorphic_pseudogene | \n", + "36 | \n", + "
exon_loss_variant,inframe_deletion | \n", + "33 | \n", + "
complex_substitution,missense_variant,NMD_transcript_variant | \n", + "32 | \n", + "
2kb_downstream_variant,polymorphic_pseudogene | \n", + "28 | \n", + "
complex_substitution,inframe_insertion | \n", + "26 | \n", + "
complex_substitution,frameshift_elongation,intron_variant,NMD_transcript_variant | \n", + "24 | \n", + "
miRNA | \n", + "24 | \n", + "
start_lost,5_prime_UTR_variant | \n", + "21 | \n", + "
polymorphic_pseudogene,3_prime_UTR_variant | \n", + "19 | \n", + "
ribozyme | \n", + "19 | \n", + "
misc_RNA | \n", + "15 | \n", + "
NMD_transcript_variant,stop_retained_variant | \n", + "15 | \n", + "
start_lost,NMD_transcript_variant,5_prime_UTR_variant | \n", + "14 | \n", + "
complex_substitution,inframe_deletion,missense_variant | \n", + "13 | \n", + "
complex_substitution,inframe_deletion | \n", + "13 | \n", + "
frameshift_elongation,stop_lost | \n", + "13 | \n", + "
frameshift_truncation,start_lost | \n", + "13 | \n", + "
complex_substitution,inframe_insertion,stop_gained | \n", + "12 | \n", + "
complex_substitution,frameshift_elongation,NMD_transcript_variant | \n", + "12 | \n", + "
complex_substitution,NMD_transcript_variant,stop_gained | \n", + "11 | \n", + "
snRNA | \n", + "9 | \n", + "
frameshift_truncation,stop_lost | \n", + "8 | \n", + "
exon_loss_variant,intron_variant | \n", + "8 | \n", + "
2kb_upstream_variant,5_prime_UTR_variant | \n", + "7 | \n", + "
snoRNA | \n", + "7 | \n", + "
intron_variant,start_lost | \n", + "6 | \n", + "
inframe_deletion,NMD_transcript_variant,stop_gained | \n", + "6 | \n", + "
complex_substitution,inframe_insertion,missense_variant | \n", + "6 | \n", + "
complex_substitution,inframe_insertion,intron_variant,NMD_transcript_variant | \n", + "6 | \n", + "
complex_substitution,frameshift_truncation,intron_variant | \n", + "5 | \n", + "
2kb_upstream_variant,start_lost,NMD_transcript_variant,stop_lost,transcript_ablation,3_prime_UTR_variant,5_prime_UTR_variant | \n", + "5 | \n", + "
frameshift_truncation,stop_lost,stop_retained_variant,3_prime_UTR_variant | \n", + "5 | \n", + "
2kb_upstream_variant,polymorphic_pseudogene | \n", + "5 | \n", + "
2kb_upstream_variant,start_lost,transcript_ablation,5_prime_UTR_variant | \n", + "5 | \n", + "
NSD_transcript,5_prime_UTR_variant | \n", + "5 | \n", + "
2kb_downstream_variant,stop_lost,3_prime_UTR_variant | \n", + "5 | \n", + "
2kb_downstream_variant,3_prime_UTR_variant | \n", + "4 | \n", + "
inframe_insertion,NMD_transcript_variant,stop_gained | \n", + "4 | \n", + "
complex_substitution,frameshift_elongation,intron_variant,NMD_transcript_variant,stop_lost | \n", + "4 | \n", + "
complex_substitution,NMD_transcript_variant,synonymous_variant | \n", + "4 | \n", + "
frameshift_elongation,NMD_transcript_variant,stop_retained_variant | \n", + "3 | \n", + "
frameshift_elongation,start_lost | \n", + "3 | \n", + "
frameshift_elongation,stop_retained_variant | \n", + "3 | \n", + "
2kb_upstream_variant,rRNA | \n", + "3 | \n", + "
inframe_deletion,stop_lost,3_prime_UTR_variant | \n", + "3 | \n", + "
start_retained_variant | \n", + "3 | \n", + "
complex_substitution,inframe_insertion,NMD_transcript_variant,stop_gained | \n", + "3 | \n", + "
frameshift_truncation,start_lost,NMD_transcript_variant | \n", + "2 | \n", + "
2kb_downstream_variant,NMD_transcript_variant,3_prime_UTR_variant | \n", + "2 | \n", + "
2kb_upstream_variant,start_lost,NMD_transcript_variant,transcript_ablation,5_prime_UTR_variant | \n", + "2 | \n", + "
2kb_upstream_variant,NMD_transcript_variant,5_prime_UTR_variant | \n", + "2 | \n", + "
2kb_upstream_variant,scaRNA | \n", + "2 | \n", + "
intron_variant,start_lost,5_prime_UTR_variant | \n", + "2 | \n", + "
complex_substitution,inframe_deletion,intron_variant | \n", + "2 | \n", + "
complex_substitution,inframe_deletion,stop_gained | \n", + "2 | \n", + "
frameshift_truncation,stop_lost,3_prime_UTR_variant | \n", + "2 | \n", + "
complex_substitution,inframe_insertion,intron_variant,missense_variant | \n", + "2 | \n", + "
complex_substitution,start_lost,start_retained_variant | \n", + "2 | \n", + "
exon_loss_variant,intron_variant,NMD_transcript_variant | \n", + "2 | \n", + "
inframe_deletion,start_lost | \n", + "2 | \n", + "
2kb_downstream_variant,stop_lost | \n", + "2 | \n", + "
complex_substitution,frameshift_elongation,intron_variant,start_lost,start_retained_variant,synonymous_variant | \n", + "1 | \n", + "
NMD_transcript_variant,stop_lost,3_prime_UTR_variant | \n", + "1 | \n", + "
2kb_downstream_variant,intron_variant,stop_lost,3_prime_UTR_variant | \n", + "1 | \n", + "
frameshift_elongation,NMD_transcript_variant,stop_lost | \n", + "1 | \n", + "
inframe_deletion,stop_lost,stop_retained_variant,3_prime_UTR_variant | \n", + "1 | \n", + "
2kb_downstream_variant,scaRNA | \n", + "1 | \n", + "
frameshift_truncation,NMD_transcript_variant,stop_lost | \n", + "1 | \n", + "
frameshift_truncation,NMD_transcript_variant,stop_lost,stop_retained_variant,3_prime_UTR_variant | \n", + "1 | \n", + "
\n", + " | transcript | \n", + "gene | \n", + "consequence | \n", + "protein_hgvs | \n", + "cdna_hgvs | \n", + "chrom | \n", + "pos | \n", + "ref_base | \n", + "alt_base | \n", + "coding | \n", + "... | \n", + "gnomad_gene.lof_z | \n", + "gnomad_gene.mis_z | \n", + "gnomad_gene.syn_z | \n", + "gnomad_gene.pLI | \n", + "gnomad_gene.pRec | \n", + "gnomad_gene.pNull | \n", + "gnomad3.af | \n", + "phi.phi | \n", + "so | \n", + "class | \n", + "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
31572 | \n", + "ENST00000288774 | \n", + "PEX10 | \n", + "intron_variant,splice_site_variant | \n", + "NaN | \n", + "c.972+1G>C | \n", + "chr1 | \n", + "2406483 | \n", + "C | \n", + "G | \n", + "NaN | \n", + "... | \n", + "1.7882 | \n", + "-0.20114 | \n", + "0.18559 | \n", + "0.000347 | \n", + "0.95426 | \n", + "0.045390 | \n", + "NaN | \n", + "0.10434 | \n", + "intron_variant,splice_site_variant | \n", + "high_impact | \n", + "
31574 | \n", + "ENST00000447513 | \n", + "PEX10 | \n", + "intron_variant,splice_site_variant | \n", + "NaN | \n", + "c.912+1G>C | \n", + "chr1 | \n", + "2406483 | \n", + "C | \n", + "G | \n", + "NaN | \n", + "... | \n", + "1.7731 | \n", + "-0.24972 | \n", + "0.24154 | \n", + "0.000335 | \n", + "0.95228 | \n", + "0.047383 | \n", + "NaN | \n", + "0.10434 | \n", + "intron_variant,splice_site_variant | \n", + "high_impact | \n", + "
31575 | \n", + "ENST00000507596 | \n", + "PEX10 | \n", + "intron_variant,splice_site_variant | \n", + "NaN | \n", + "c.912+1G>C | \n", + "chr1 | \n", + "2406483 | \n", + "C | \n", + "G | \n", + "NaN | \n", + "... | \n", + "2.1519 | \n", + "-0.26686 | \n", + "0.30038 | \n", + "0.007533 | \n", + "0.97830 | \n", + "0.014167 | \n", + "NaN | \n", + "0.10434 | \n", + "intron_variant,splice_site_variant | \n", + "high_impact | \n", + "
32165 | \n", + "ENST00000288774 | \n", + "PEX10 | \n", + "intron_variant,splice_site_variant | \n", + "NaN | \n", + "c.836+1G>C | \n", + "chr1 | \n", + "2406719 | \n", + "C | \n", + "G | \n", + "NaN | \n", + "... | \n", + "1.7882 | \n", + "-0.20114 | \n", + "0.18559 | \n", + "0.000347 | \n", + "0.95426 | \n", + "0.045390 | \n", + "NaN | \n", + "0.10434 | \n", + "intron_variant,splice_site_variant | \n", + "high_impact | \n", + "
32167 | \n", + "ENST00000447513 | \n", + "PEX10 | \n", + "intron_variant,splice_site_variant | \n", + "NaN | \n", + "c.776+1G>C | \n", + "chr1 | \n", + "2406719 | \n", + "C | \n", + "G | \n", + "NaN | \n", + "... | \n", + "1.7731 | \n", + "-0.24972 | \n", + "0.24154 | \n", + "0.000335 | \n", + "0.95228 | \n", + "0.047383 | \n", + "NaN | \n", + "0.10434 | \n", + "intron_variant,splice_site_variant | \n", + "high_impact | \n", + "
5 rows ร 129 columns
\n", + "extra_vcf_info.CLNSIG | \n", + "Benign | \n", + "Benign/Likely_benign | \n", + "Likely_benign | \n", + "Likely_pathogenic | \n", + "Pathogenic | \n", + "Pathogenic/Likely_pathogenic | \n", + "
---|---|---|---|---|---|---|
so | \n", + "\n", + " | \n", + " | \n", + " | \n", + " | \n", + " | \n", + " |
intron_variant | \n", + "51632.0 | \n", + "40249.0 | \n", + "59119.0 | \n", + "1762.0 | \n", + "14194.0 | \n", + "5507.0 | \n", + "
synonymous_variant | \n", + "35862.0 | \n", + "64772.0 | \n", + "197011.0 | \n", + "182.0 | \n", + "335.0 | \n", + "417.0 | \n", + "
missense_variant | \n", + "23153.0 | \n", + "33727.0 | \n", + "16070.0 | \n", + "9189.0 | \n", + "15409.0 | \n", + "24049.0 | \n", + "
intron_variant,NMD_transcript_variant | \n", + "7383.0 | \n", + "5752.0 | \n", + "11369.0 | \n", + "684.0 | \n", + "1783.0 | \n", + "1658.0 | \n", + "
NMD_transcript_variant,3_prime_UTR_variant | \n", + "5077.0 | \n", + "7736.0 | \n", + "19215.0 | \n", + "1397.0 | \n", + "10014.0 | \n", + "5524.0 | \n", + "
processed_transcript | \n", + "4949.0 | \n", + "6717.0 | \n", + "12762.0 | \n", + "1173.0 | \n", + "5611.0 | \n", + "4381.0 | \n", + "
3_prime_UTR_variant | \n", + "4859.0 | \n", + "3478.0 | \n", + "2759.0 | \n", + "180.0 | \n", + "493.0 | \n", + "432.0 | \n", + "
intron_variant,processed_transcript | \n", + "4132.0 | \n", + "3445.0 | \n", + "4840.0 | \n", + "1185.0 | \n", + "2240.0 | \n", + "1945.0 | \n", + "
intron_variant,lnc_RNA | \n", + "3805.0 | \n", + "8003.0 | \n", + "7356.0 | \n", + "5957.0 | \n", + "3651.0 | \n", + "6028.0 | \n", + "
2kb_downstream_variant | \n", + "3679.0 | \n", + "3389.0 | \n", + "4359.0 | \n", + "518.0 | \n", + "1486.0 | \n", + "1588.0 | \n", + "
2kb_upstream_variant | \n", + "2971.0 | \n", + "2756.0 | \n", + "5216.0 | \n", + "493.0 | \n", + "1398.0 | \n", + "1400.0 | \n", + "
2kb_downstream_variant,processed_transcript | \n", + "2739.0 | \n", + "3201.0 | \n", + "4923.0 | \n", + "775.0 | \n", + "2328.0 | \n", + "1996.0 | \n", + "
5_prime_UTR_variant | \n", + "2724.0 | \n", + "2212.0 | \n", + "3606.0 | \n", + "329.0 | \n", + "4296.0 | \n", + "851.0 | \n", + "
NMD_transcript_variant,synonymous_variant | \n", + "1976.0 | \n", + "3418.0 | \n", + "14053.0 | \n", + "46.0 | \n", + "111.0 | \n", + "126.0 | \n", + "
2kb_upstream_variant,processed_transcript | \n", + "1905.0 | \n", + "2266.0 | \n", + "4008.0 | \n", + "433.0 | \n", + "1610.0 | \n", + "1315.0 | \n", + "
missense_variant,NMD_transcript_variant | \n", + "1716.0 | \n", + "2112.0 | \n", + "1545.0 | \n", + "606.0 | \n", + "1399.0 | \n", + "1706.0 | \n", + "
2kb_upstream_variant,lnc_RNA | \n", + "1461.0 | \n", + "1597.0 | \n", + "2305.0 | \n", + "368.0 | \n", + "773.0 | \n", + "822.0 | \n", + "
2kb_downstream_variant,NMD_transcript_variant | \n", + "1282.0 | \n", + "1493.0 | \n", + "3545.0 | \n", + "227.0 | \n", + "2650.0 | \n", + "984.0 | \n", + "
2kb_upstream_variant,NMD_transcript_variant | \n", + "898.0 | \n", + "747.0 | \n", + "1206.0 | \n", + "108.0 | \n", + "368.0 | \n", + "220.0 | \n", + "
2kb_downstream_variant,lnc_RNA | \n", + "639.0 | \n", + "831.0 | \n", + "1146.0 | \n", + "267.0 | \n", + "312.0 | \n", + "403.0 | \n", + "
lnc_RNA | \n", + "616.0 | \n", + "690.0 | \n", + "1281.0 | \n", + "166.0 | \n", + "301.0 | \n", + "502.0 | \n", + "
NMD_transcript_variant,5_prime_UTR_variant | \n", + "454.0 | \n", + "334.0 | \n", + "360.0 | \n", + "41.0 | \n", + "141.0 | \n", + "47.0 | \n", + "
inframe_deletion | \n", + "334.0 | \n", + "695.0 | \n", + "379.0 | \n", + "279.0 | \n", + "416.0 | \n", + "625.0 | \n", + "
inframe_insertion | \n", + "191.0 | \n", + "459.0 | \n", + "198.0 | \n", + "64.0 | \n", + "46.0 | \n", + "75.0 | \n", + "
2kb_downstream_variant,miRNA | \n", + "149.0 | \n", + "231.0 | \n", + "277.0 | \n", + "60.0 | \n", + "83.0 | \n", + "75.0 | \n", + "
2kb_upstream_variant,miRNA | \n", + "131.0 | \n", + "120.0 | \n", + "236.0 | \n", + "82.0 | \n", + "114.0 | \n", + "96.0 | \n", + "
NSD_transcript | \n", + "102.0 | \n", + "69.0 | \n", + "301.0 | \n", + "7.0 | \n", + "540.0 | \n", + "38.0 | \n", + "
2kb_downstream_variant,NSD_transcript | \n", + "77.0 | \n", + "16.0 | \n", + "294.0 | \n", + "9.0 | \n", + "916.0 | \n", + "32.0 | \n", + "
complex_substitution,missense_variant | \n", + "59.0 | \n", + "90.0 | \n", + "90.0 | \n", + "30.0 | \n", + "61.0 | \n", + "79.0 | \n", + "
intron_variant,splice_site_variant | \n", + "56.0 | \n", + "57.0 | \n", + "43.0 | \n", + "6678.0 | \n", + "8601.0 | \n", + "9043.0 | \n", + "
stop_gained | \n", + "46.0 | \n", + "80.0 | \n", + "61.0 | \n", + "1909.0 | \n", + "31494.0 | \n", + "13707.0 | \n", + "
2kb_upstream_variant,misc_RNA | \n", + "45.0 | \n", + "58.0 | \n", + "94.0 | \n", + "12.0 | \n", + "26.0 | \n", + "32.0 | \n", + "
2kb_downstream_variant,misc_RNA | \n", + "43.0 | \n", + "46.0 | \n", + "177.0 | \n", + "11.0 | \n", + "29.0 | \n", + "40.0 | \n", + "
intron_variant,NSD_transcript | \n", + "41.0 | \n", + "28.0 | \n", + "38.0 | \n", + "4.0 | \n", + "3.0 | \n", + "3.0 | \n", + "
inframe_deletion,NMD_transcript_variant | \n", + "34.0 | \n", + "46.0 | \n", + "22.0 | \n", + "5.0 | \n", + "19.0 | \n", + "16.0 | \n", + "
frameshift_truncation | \n", + "33.0 | \n", + "17.0 | \n", + "18.0 | \n", + "1381.0 | \n", + "22299.0 | \n", + "8025.0 | \n", + "
2kb_upstream_variant,snoRNA | \n", + "33.0 | \n", + "15.0 | \n", + "22.0 | \n", + "2.0 | \n", + "11.0 | \n", + "4.0 | \n", + "
frameshift_elongation | \n", + "30.0 | \n", + "49.0 | \n", + "18.0 | \n", + "751.0 | \n", + "10569.0 | \n", + "3428.0 | \n", + "
2kb_downstream_variant,snRNA | \n", + "30.0 | \n", + "27.0 | \n", + "117.0 | \n", + "5.0 | \n", + "14.0 | \n", + "24.0 | \n", + "
missense_variant,start_lost | \n", + "27.0 | \n", + "21.0 | \n", + "14.0 | \n", + "129.0 | \n", + "461.0 | \n", + "522.0 | \n", + "
2kb_upstream_variant,NSD_transcript | \n", + "27.0 | \n", + "22.0 | \n", + "55.0 | \n", + "2.0 | \n", + "6.0 | \n", + "4.0 | \n", + "
NMD_transcript_variant,stop_gained | \n", + "24.0 | \n", + "23.0 | \n", + "70.0 | \n", + "74.0 | \n", + "2657.0 | \n", + "1292.0 | \n", + "
2kb_downstream_variant,snoRNA | \n", + "23.0 | \n", + "21.0 | \n", + "34.0 | \n", + "4.0 | \n", + "31.0 | \n", + "10.0 | \n", + "
2kb_downstream_variant,polymorphic_pseudogene | \n", + "22.0 | \n", + "6.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "
polymorphic_pseudogene | \n", + "19.0 | \n", + "101.0 | \n", + "36.0 | \n", + "30.0 | \n", + "78.0 | \n", + "67.0 | \n", + "
stop_retained_variant | \n", + "19.0 | \n", + "13.0 | \n", + "99.0 | \n", + "NaN | \n", + "1.0 | \n", + "NaN | \n", + "
inframe_insertion,NMD_transcript_variant | \n", + "16.0 | \n", + "27.0 | \n", + "20.0 | \n", + "4.0 | \n", + "4.0 | \n", + "1.0 | \n", + "
splice_site_variant | \n", + "14.0 | \n", + "29.0 | \n", + "14.0 | \n", + "275.0 | \n", + "276.0 | \n", + "335.0 | \n", + "
intron_variant,NMD_transcript_variant,splice_site_variant | \n", + "13.0 | \n", + "14.0 | \n", + "15.0 | \n", + "2137.0 | \n", + "1899.0 | \n", + "2200.0 | \n", + "
2kb_upstream_variant,snRNA | \n", + "13.0 | \n", + "17.0 | \n", + "23.0 | \n", + "2.0 | \n", + "9.0 | \n", + "13.0 | \n", + "
intron_variant,polymorphic_pseudogene | \n", + "11.0 | \n", + "6.0 | \n", + "8.0 | \n", + "4.0 | \n", + "NaN | \n", + "7.0 | \n", + "
polymorphic_pseudogene,3_prime_UTR_variant | \n", + "11.0 | \n", + "8.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "
2kb_upstream_variant,ribozyme | \n", + "9.0 | \n", + "12.0 | \n", + "11.0 | \n", + "1.0 | \n", + "15.0 | \n", + "11.0 | \n", + "
NMD_transcript_variant,stop_retained_variant | \n", + "6.0 | \n", + "2.0 | \n", + "4.0 | \n", + "NaN | \n", + "NaN | \n", + "3.0 | \n", + "
missense_variant,start_lost,NMD_transcript_variant | \n", + "5.0 | \n", + "3.0 | \n", + "2.0 | \n", + "34.0 | \n", + "145.0 | \n", + "233.0 | \n", + "
stop_lost | \n", + "5.0 | \n", + "12.0 | \n", + "8.0 | \n", + "12.0 | \n", + "24.0 | \n", + "19.0 | \n", + "
miRNA | \n", + "5.0 | \n", + "5.0 | \n", + "9.0 | \n", + "2.0 | \n", + "1.0 | \n", + "2.0 | \n", + "
complex_substitution,missense_variant,NMD_transcript_variant | \n", + "4.0 | \n", + "NaN | \n", + "8.0 | \n", + "3.0 | \n", + "15.0 | \n", + "2.0 | \n", + "
frameshift_truncation,stop_gained | \n", + "3.0 | \n", + "10.0 | \n", + "3.0 | \n", + "57.0 | \n", + "1750.0 | \n", + "542.0 | \n", + "
complex_substitution,frameshift_elongation,intron_variant | \n", + "3.0 | \n", + "5.0 | \n", + "1.0 | \n", + "128.0 | \n", + "58.0 | \n", + "154.0 | \n", + "
NMD_transcript_variant | \n", + "3.0 | \n", + "14.0 | \n", + "7.0 | \n", + "8.0 | \n", + "21.0 | \n", + "20.0 | \n", + "
NSD_transcript,5_prime_UTR_variant | \n", + "3.0 | \n", + "2.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "
snoRNA | \n", + "3.0 | \n", + "2.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "
frameshift_elongation,NMD_transcript_variant | \n", + "2.0 | \n", + "2.0 | \n", + "NaN | \n", + "16.0 | \n", + "617.0 | \n", + "149.0 | \n", + "
complex_substitution | \n", + "2.0 | \n", + "2.0 | \n", + "2.0 | \n", + "6.0 | \n", + "21.0 | \n", + "18.0 | \n", + "
NMD_transcript_variant,splice_site_variant | \n", + "2.0 | \n", + "NaN | \n", + "NaN | \n", + "17.0 | \n", + "14.0 | \n", + "10.0 | \n", + "
ribozyme | \n", + "2.0 | \n", + "1.0 | \n", + "1.0 | \n", + "1.0 | \n", + "4.0 | \n", + "10.0 | \n", + "
2kb_downstream_variant,3_prime_UTR_variant | \n", + "2.0 | \n", + "NaN | \n", + "2.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "
2kb_upstream_variant,rRNA | \n", + "2.0 | \n", + "1.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "
frameshift_truncation,NMD_transcript_variant | \n", + "1.0 | \n", + "3.0 | \n", + "1.0 | \n", + "18.0 | \n", + "1333.0 | \n", + "381.0 | \n", + "
complex_substitution,inframe_insertion,intron_variant | \n", + "1.0 | \n", + "16.0 | \n", + "NaN | \n", + "33.0 | \n", + "50.0 | \n", + "38.0 | \n", + "
NMD_transcript_variant,stop_lost | \n", + "1.0 | \n", + "3.0 | \n", + "16.0 | \n", + "1.0 | \n", + "20.0 | \n", + "13.0 | \n", + "
frameshift_truncation,stop_lost | \n", + "1.0 | \n", + "1.0 | \n", + "NaN | \n", + "1.0 | \n", + "3.0 | \n", + "2.0 | \n", + "
2kb_downstream_variant,scaRNA | \n", + "1.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "
misc_RNA | \n", + "1.0 | \n", + "NaN | \n", + "14.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "
start_retained_variant | \n", + "1.0 | \n", + "1.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "
complex_substitution,frameshift_truncation | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "65.0 | \n", + "781.0 | \n", + "176.0 | \n", + "
frameshift_elongation,stop_gained | \n", + "NaN | \n", + "1.0 | \n", + "NaN | \n", + "55.0 | \n", + "666.0 | \n", + "184.0 | \n", + "
complex_substitution,frameshift_elongation | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "23.0 | \n", + "306.0 | \n", + "76.0 | \n", + "
exon_loss_variant,frameshift_truncation | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "167.0 | \n", + "2.0 | \n", + "
complex_substitution,stop_gained | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "120.0 | \n", + "27.0 | \n", + "
frameshift_truncation,NMD_transcript_variant,stop_gained | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "97.0 | \n", + "38.0 | \n", + "
complex_substitution,frameshift_truncation,NMD_transcript_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "51.0 | \n", + "16.0 | \n", + "
frameshift_elongation,NMD_transcript_variant,stop_gained | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "46.0 | \n", + "7.0 | \n", + "
exon_loss_variant,frameshift_truncation,NMD_transcript_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "42.0 | \n", + "NaN | \n", + "
inframe_deletion,stop_gained | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "36.0 | \n", + "11.0 | \n", + "
exon_loss_variant,inframe_deletion | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "33.0 | \n", + "NaN | \n", + "
polymorphic_pseudogene,5_prime_UTR_variant | \n", + "NaN | \n", + "6.0 | \n", + "5.0 | \n", + "8.0 | \n", + "26.0 | \n", + "24.0 | \n", + "
inframe_insertion,stop_gained | \n", + "NaN | \n", + "2.0 | \n", + "NaN | \n", + "NaN | \n", + "20.0 | \n", + "18.0 | \n", + "
complex_substitution,inframe_insertion,stop_gained | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "12.0 | \n", + "NaN | \n", + "
start_lost,5_prime_UTR_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "12.0 | \n", + "9.0 | \n", + "
complex_substitution,NMD_transcript_variant,stop_gained | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "11.0 | \n", + "NaN | \n", + "
frameshift_elongation,stop_lost | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "11.0 | \n", + "2.0 | \n", + "
complex_substitution,inframe_insertion | \n", + "NaN | \n", + "3.0 | \n", + "10.0 | \n", + "NaN | \n", + "10.0 | \n", + "3.0 | \n", + "
frameshift_truncation,start_lost | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "10.0 | \n", + "3.0 | \n", + "
complex_substitution,inframe_deletion | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "3.0 | \n", + "9.0 | \n", + "1.0 | \n", + "
exon_loss_variant,intron_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "8.0 | \n", + "NaN | \n", + "
2kb_upstream_variant,5_prime_UTR_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "7.0 | \n", + "NaN | \n", + "
complex_substitution,inframe_insertion,missense_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "6.0 | \n", + "NaN | \n", + "
intron_variant,start_lost | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "6.0 | \n", + "NaN | \n", + "
2kb_upstream_variant,start_lost,NMD_transcript_variant,stop_lost,transcript_ablation,3_prime_UTR_variant,5_prime_UTR_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "5.0 | \n", + "NaN | \n", + "
2kb_upstream_variant,start_lost,transcript_ablation,5_prime_UTR_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "5.0 | \n", + "NaN | \n", + "
complex_substitution,frameshift_elongation,NMD_transcript_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "5.0 | \n", + "7.0 | \n", + "
inframe_deletion,NMD_transcript_variant,stop_gained | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "5.0 | \n", + "1.0 | \n", + "
complex_substitution,frameshift_elongation,intron_variant,NMD_transcript_variant,stop_lost | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "4.0 | \n", + "NaN | \n", + "
2kb_downstream_variant,stop_lost,3_prime_UTR_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "3.0 | \n", + "2.0 | \n", + "
complex_substitution,frameshift_truncation,intron_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "3.0 | \n", + "NaN | \n", + "
complex_substitution,inframe_deletion,missense_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "3.0 | \n", + "9.0 | \n", + "
complex_substitution,inframe_insertion,NMD_transcript_variant,stop_gained | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "3.0 | \n", + "NaN | \n", + "
frameshift_elongation,NMD_transcript_variant,stop_retained_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "3.0 | \n", + "NaN | \n", + "
inframe_insertion,NMD_transcript_variant,stop_gained | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "3.0 | \n", + "1.0 | \n", + "
snRNA | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "3.0 | \n", + "3.0 | \n", + "3.0 | \n", + "
2kb_downstream_variant,NMD_transcript_variant,3_prime_UTR_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "NaN | \n", + "
2kb_upstream_variant,NMD_transcript_variant,5_prime_UTR_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "NaN | \n", + "
2kb_upstream_variant,start_lost,NMD_transcript_variant,transcript_ablation,5_prime_UTR_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "NaN | \n", + "
complex_substitution,frameshift_elongation,intron_variant,NMD_transcript_variant | \n", + "NaN | \n", + "1.0 | \n", + "NaN | \n", + "6.0 | \n", + "2.0 | \n", + "15.0 | \n", + "
complex_substitution,inframe_deletion,stop_gained | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "NaN | \n", + "
exon_loss_variant,intron_variant,NMD_transcript_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "NaN | \n", + "
frameshift_truncation,start_lost,NMD_transcript_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "NaN | \n", + "
intron_variant,start_lost,5_prime_UTR_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "NaN | \n", + "
2kb_downstream_variant,intron_variant,stop_lost,3_prime_UTR_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "NaN | \n", + "
NMD_transcript_variant,stop_lost,3_prime_UTR_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "NaN | \n", + "
complex_substitution,start_lost,start_retained_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "1.0 | \n", + "NaN | \n", + "
frameshift_elongation,NMD_transcript_variant,stop_lost | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "NaN | \n", + "
frameshift_truncation,NMD_transcript_variant,stop_lost | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "NaN | \n", + "
frameshift_truncation,NMD_transcript_variant,stop_lost,stop_retained_variant,3_prime_UTR_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "NaN | \n", + "
frameshift_truncation,stop_lost,3_prime_UTR_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "1.0 | \n", + "
inframe_deletion,stop_lost,stop_retained_variant,3_prime_UTR_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "NaN | \n", + "
start_lost,NMD_transcript_variant,5_prime_UTR_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "13.0 | \n", + "
2kb_downstream_variant,stop_lost | \n", + "NaN | \n", + "2.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "
2kb_upstream_variant,polymorphic_pseudogene | \n", + "NaN | \n", + "5.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "
2kb_upstream_variant,scaRNA | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "NaN | \n", + "NaN | \n", + "
complex_substitution,NMD_transcript_variant,synonymous_variant | \n", + "NaN | \n", + "4.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "
complex_substitution,frameshift_elongation,intron_variant,start_lost,start_retained_variant,synonymous_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "
complex_substitution,inframe_deletion,intron_variant | \n", + "NaN | \n", + "1.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "
complex_substitution,inframe_insertion,intron_variant,NMD_transcript_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "NaN | \n", + "4.0 | \n", + "
complex_substitution,inframe_insertion,intron_variant,missense_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "
complex_substitution,synonymous_variant | \n", + "NaN | \n", + "21.0 | \n", + "21.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "
frameshift_elongation,start_lost | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "3.0 | \n", + "
frameshift_elongation,stop_retained_variant | \n", + "NaN | \n", + "NaN | \n", + "3.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "
frameshift_truncation,stop_lost,stop_retained_variant,3_prime_UTR_variant | \n", + "NaN | \n", + "5.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "
inframe_deletion,start_lost | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "
inframe_deletion,stop_lost,3_prime_UTR_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "2.0 | \n", + "NaN | \n", + "1.0 | \n", + "
\n", + " | chrom | \n", + "pos | \n", + "ref_base | \n", + "alt_base | \n", + "
---|---|---|---|---|
3596154 | \n", + "chr3 | \n", + "142458979 | \n", + "A | \n", + "G | \n", + "
5735385 | \n", + "chr7 | \n", + "138722001 | \n", + "C | \n", + "A | \n", + "
8319921 | \n", + "chr12 | \n", + "91151736 | \n", + "G | \n", + "A | \n", + "
3077210 | \n", + "chr3 | \n", + "14146199 | \n", + "T | \n", + "C | \n", + "
9015064 | \n", + "chr15 | \n", + "26567663 | \n", + "A | \n", + "G | \n", + "
\n", + " | chrom | \n", + "pos | \n", + "ref_base | \n", + "alt_base | \n", + "transcript | \n", + "CADD | \n", + "Cscape | \n", + "Clinpred | \n", + "DANN | \n", + "DANN_coding | \n", + "... | \n", + "Provean | \n", + "phdsnpg | \n", + "revel | \n", + "SIFT | \n", + "VEST | \n", + "dbscsnv.ada_score | \n", + "dbscsnv.rf_score | \n", + "varity_r | \n", + "varity_er | \n", + "class | \n", + "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
0 | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "ENST00000293748 | \n", + "4.416 | \n", + "0.183598 | \n", + "NaN | \n", + "0.530613 | \n", + "NaN | \n", + "... | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "low_impact | \n", + "
1 | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "ENST00000418600 | \n", + "4.416 | \n", + "0.183598 | \n", + "NaN | \n", + "0.530613 | \n", + "NaN | \n", + "... | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "low_impact | \n", + "
2 | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "ENST00000428982 | \n", + "4.416 | \n", + "0.183598 | \n", + "NaN | \n", + "0.530613 | \n", + "NaN | \n", + "... | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "low_impact | \n", + "
3 | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "ENST00000449372 | \n", + "4.416 | \n", + "0.183598 | \n", + "NaN | \n", + "0.530613 | \n", + "NaN | \n", + "... | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "low_impact | \n", + "
4 | \n", + "chr6 | \n", + "33443750 | \n", + "T | \n", + "G | \n", + "ENST00000628646 | \n", + "4.416 | \n", + "0.183598 | \n", + "NaN | \n", + "0.530613 | \n", + "NaN | \n", + "... | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "1.0 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "low_impact | \n", + "
5 rows ร 32 columns
\n", + "class | \n", + "high_impact | \n", + "low_impact | \n", + "
---|---|---|
so | \n", + "\n", + " | \n", + " |
synonymous_variant | \n", + "710.0 | \n", + "239012.0 | \n", + "
intron_variant | \n", + "17140.0 | \n", + "121139.0 | \n", + "
missense_variant | \n", + "39052.0 | \n", + "58552.0 | \n", + "
NMD_transcript_variant,3_prime_UTR_variant | \n", + "13645.0 | \n", + "25699.0 | \n", + "
intron_variant,NMD_transcript_variant | \n", + "3263.0 | \n", + "19808.0 | \n", + "
processed_transcript | \n", + "9027.0 | \n", + "19614.0 | \n", + "
NMD_transcript_variant,synonymous_variant | \n", + "233.0 | \n", + "15624.0 | \n", + "
intron_variant,lnc_RNA | \n", + "12415.0 | \n", + "14933.0 | \n", + "
intron_variant,processed_transcript | \n", + "4344.0 | \n", + "10027.0 | \n", + "
2kb_downstream_variant | \n", + "2832.0 | \n", + "9293.0 | \n", + "
3_prime_UTR_variant | \n", + "878.0 | \n", + "8930.0 | \n", + "
2kb_downstream_variant,processed_transcript | \n", + "4108.0 | \n", + "8688.0 | \n", + "
2kb_upstream_variant | \n", + "2611.0 | \n", + "8654.0 | \n", + "
5_prime_UTR_variant | \n", + "4450.0 | \n", + "6870.0 | \n", + "
2kb_upstream_variant,processed_transcript | \n", + "2636.0 | \n", + "6493.0 | \n", + "
2kb_downstream_variant,NMD_transcript_variant | \n", + "3104.0 | \n", + "5043.0 | \n", + "
2kb_upstream_variant,lnc_RNA | \n", + "1511.0 | \n", + "4388.0 | \n", + "
missense_variant,NMD_transcript_variant | \n", + "2971.0 | \n", + "4352.0 | \n", + "
2kb_upstream_variant,NMD_transcript_variant | \n", + "545.0 | \n", + "2214.0 | \n", + "
2kb_downstream_variant,lnc_RNA | \n", + "770.0 | \n", + "2156.0 | \n", + "
lnc_RNA | \n", + "829.0 | \n", + "2089.0 | \n", + "
inframe_deletion | \n", + "1052.0 | \n", + "1082.0 | \n", + "
NMD_transcript_variant,5_prime_UTR_variant | \n", + "187.0 | \n", + "940.0 | \n", + "
inframe_insertion | \n", + "165.0 | \n", + "680.0 | \n", + "
2kb_downstream_variant,miRNA | \n", + "176.0 | \n", + "549.0 | \n", + "
NSD_transcript | \n", + "471.0 | \n", + "391.0 | \n", + "
2kb_upstream_variant,miRNA | \n", + "225.0 | \n", + "385.0 | \n", + "
2kb_downstream_variant,NSD_transcript | \n", + "764.0 | \n", + "300.0 | \n", + "
2kb_downstream_variant,misc_RNA | \n", + "66.0 | \n", + "208.0 | \n", + "
complex_substitution,missense_variant | \n", + "131.0 | \n", + "203.0 | \n", + "
2kb_upstream_variant,misc_RNA | \n", + "50.0 | \n", + "148.0 | \n", + "
2kb_downstream_variant,snRNA | \n", + "39.0 | \n", + "147.0 | \n", + "
stop_gained | \n", + "37575.0 | \n", + "140.0 | \n", + "
polymorphic_pseudogene | \n", + "121.0 | \n", + "132.0 | \n", + "
intron_variant,splice_site_variant | \n", + "19292.0 | \n", + "119.0 | \n", + "
stop_retained_variant | \n", + "1.0 | \n", + "102.0 | \n", + "
NMD_transcript_variant,stop_gained | \n", + "3222.0 | \n", + "101.0 | \n", + "
intron_variant,NSD_transcript | \n", + "8.0 | \n", + "90.0 | \n", + "
frameshift_elongation | \n", + "11674.0 | \n", + "87.0 | \n", + "
inframe_deletion,NMD_transcript_variant | \n", + "37.0 | \n", + "83.0 | \n", + "
2kb_upstream_variant,NSD_transcript | \n", + "9.0 | \n", + "80.0 | \n", + "
2kb_downstream_variant,snoRNA | \n", + "31.0 | \n", + "60.0 | \n", + "
2kb_upstream_variant,snoRNA | \n", + "14.0 | \n", + "57.0 | \n", + "
inframe_insertion,NMD_transcript_variant | \n", + "6.0 | \n", + "54.0 | \n", + "
frameshift_truncation | \n", + "25753.0 | \n", + "51.0 | \n", + "
missense_variant,start_lost | \n", + "851.0 | \n", + "48.0 | \n", + "
2kb_upstream_variant,snRNA | \n", + "23.0 | \n", + "48.0 | \n", + "
splice_site_variant | \n", + "703.0 | \n", + "47.0 | \n", + "
complex_substitution,synonymous_variant | \n", + "NaN | \n", + "35.0 | \n", + "
intron_variant,NMD_transcript_variant,splice_site_variant | \n", + "5034.0 | \n", + "30.0 | \n", + "
2kb_downstream_variant,polymorphic_pseudogene | \n", + "NaN | \n", + "28.0 | \n", + "
2kb_upstream_variant,ribozyme | \n", + "20.0 | \n", + "27.0 | \n", + "
stop_lost | \n", + "48.0 | \n", + "25.0 | \n", + "
intron_variant,polymorphic_pseudogene | \n", + "7.0 | \n", + "25.0 | \n", + "
NMD_transcript_variant | \n", + "35.0 | \n", + "18.0 | \n", + "
NMD_transcript_variant,stop_lost | \n", + "29.0 | \n", + "18.0 | \n", + "
complex_substitution,inframe_insertion,intron_variant | \n", + "97.0 | \n", + "17.0 | \n", + "
polymorphic_pseudogene,3_prime_UTR_variant | \n", + "NaN | \n", + "15.0 | \n", + "
complex_substitution,inframe_insertion | \n", + "11.0 | \n", + "13.0 | \n", + "
misc_RNA | \n", + "NaN | \n", + "12.0 | \n", + "
NMD_transcript_variant,stop_retained_variant | \n", + "2.0 | \n", + "11.0 | \n", + "
complex_substitution,frameshift_elongation,intron_variant | \n", + "282.0 | \n", + "9.0 | \n", + "
miRNA | \n", + "3.0 | \n", + "9.0 | \n", + "
frameshift_truncation,stop_gained | \n", + "1896.0 | \n", + "8.0 | \n", + "
missense_variant,start_lost,NMD_transcript_variant | \n", + "342.0 | \n", + "7.0 | \n", + "
polymorphic_pseudogene,5_prime_UTR_variant | \n", + "42.0 | \n", + "7.0 | \n", + "
complex_substitution,missense_variant,NMD_transcript_variant | \n", + "10.0 | \n", + "7.0 | \n", + "
complex_substitution | \n", + "30.0 | \n", + "6.0 | \n", + "
frameshift_truncation,NMD_transcript_variant | \n", + "1420.0 | \n", + "5.0 | \n", + "
2kb_upstream_variant,polymorphic_pseudogene | \n", + "NaN | \n", + "5.0 | \n", + "
snoRNA | \n", + "2.0 | \n", + "4.0 | \n", + "
2kb_downstream_variant,3_prime_UTR_variant | \n", + "NaN | \n", + "4.0 | \n", + "
complex_substitution,NMD_transcript_variant,synonymous_variant | \n", + "NaN | \n", + "4.0 | \n", + "
ribozyme | \n", + "14.0 | \n", + "3.0 | \n", + "
NSD_transcript,5_prime_UTR_variant | \n", + "NaN | \n", + "3.0 | \n", + "
frameshift_elongation,stop_retained_variant | \n", + "NaN | \n", + "3.0 | \n", + "
frameshift_elongation,NMD_transcript_variant | \n", + "612.0 | \n", + "2.0 | \n", + "
inframe_insertion,stop_gained | \n", + "32.0 | \n", + "2.0 | \n", + "
NMD_transcript_variant,splice_site_variant | \n", + "24.0 | \n", + "2.0 | \n", + "
frameshift_truncation,stop_lost | \n", + "4.0 | \n", + "2.0 | \n", + "
2kb_upstream_variant,rRNA | \n", + "NaN | \n", + "2.0 | \n", + "
frameshift_elongation,stop_gained | \n", + "742.0 | \n", + "1.0 | \n", + "
complex_substitution,frameshift_elongation,intron_variant,NMD_transcript_variant | \n", + "16.0 | \n", + "1.0 | \n", + "
complex_substitution,inframe_deletion,intron_variant | \n", + "1.0 | \n", + "1.0 | \n", + "
start_retained_variant | \n", + "1.0 | \n", + "1.0 | \n", + "
2kb_downstream_variant,scaRNA | \n", + "NaN | \n", + "1.0 | \n", + "
complex_substitution,frameshift_truncation | \n", + "842.0 | \n", + "NaN | \n", + "
complex_substitution,frameshift_elongation | \n", + "331.0 | \n", + "NaN | \n", + "
exon_loss_variant,frameshift_truncation | \n", + "122.0 | \n", + "NaN | \n", + "
complex_substitution,stop_gained | \n", + "120.0 | \n", + "NaN | \n", + "
frameshift_truncation,NMD_transcript_variant,stop_gained | \n", + "87.0 | \n", + "NaN | \n", + "
complex_substitution,frameshift_truncation,NMD_transcript_variant | \n", + "52.0 | \n", + "NaN | \n", + "
frameshift_elongation,NMD_transcript_variant,stop_gained | \n", + "43.0 | \n", + "NaN | \n", + "
inframe_deletion,stop_gained | \n", + "40.0 | \n", + "NaN | \n", + "
exon_loss_variant,frameshift_truncation,NMD_transcript_variant | \n", + "36.0 | \n", + "NaN | \n", + "
exon_loss_variant,inframe_deletion | \n", + "24.0 | \n", + "NaN | \n", + "
start_lost,5_prime_UTR_variant | \n", + "20.0 | \n", + "NaN | \n", + "
start_lost,NMD_transcript_variant,5_prime_UTR_variant | \n", + "14.0 | \n", + "NaN | \n", + "
frameshift_truncation,start_lost | \n", + "12.0 | \n", + "NaN | \n", + "
complex_substitution,NMD_transcript_variant,stop_gained | \n", + "11.0 | \n", + "NaN | \n", + "
complex_substitution,inframe_deletion | \n", + "10.0 | \n", + "NaN | \n", + "
complex_substitution,inframe_insertion,stop_gained | \n", + "10.0 | \n", + "NaN | \n", + "
exon_loss_variant,intron_variant | \n", + "8.0 | \n", + "NaN | \n", + "
frameshift_elongation,stop_lost | \n", + "8.0 | \n", + "NaN | \n", + "
2kb_upstream_variant,5_prime_UTR_variant | \n", + "7.0 | \n", + "NaN | \n", + "
complex_substitution,inframe_deletion,missense_variant | \n", + "6.0 | \n", + "NaN | \n", + "
complex_substitution,inframe_insertion,missense_variant | \n", + "6.0 | \n", + "NaN | \n", + "
inframe_deletion,NMD_transcript_variant,stop_gained | \n", + "6.0 | \n", + "NaN | \n", + "
intron_variant,start_lost | \n", + "6.0 | \n", + "NaN | \n", + "
snRNA | \n", + "6.0 | \n", + "NaN | \n", + "
2kb_upstream_variant,start_lost,NMD_transcript_variant,stop_lost,transcript_ablation,3_prime_UTR_variant,5_prime_UTR_variant | \n", + "5.0 | \n", + "NaN | \n", + "
2kb_upstream_variant,start_lost,transcript_ablation,5_prime_UTR_variant | \n", + "5.0 | \n", + "NaN | \n", + "
complex_substitution,frameshift_truncation,intron_variant | \n", + "5.0 | \n", + "NaN | \n", + "
2kb_downstream_variant,stop_lost,3_prime_UTR_variant | \n", + "4.0 | \n", + "NaN | \n", + "
complex_substitution,frameshift_elongation,NMD_transcript_variant | \n", + "4.0 | \n", + "NaN | \n", + "
complex_substitution,frameshift_elongation,intron_variant,NMD_transcript_variant,stop_lost | \n", + "4.0 | \n", + "NaN | \n", + "
complex_substitution,inframe_insertion,intron_variant,NMD_transcript_variant | \n", + "4.0 | \n", + "NaN | \n", + "
complex_substitution,inframe_insertion,NMD_transcript_variant,stop_gained | \n", + "3.0 | \n", + "NaN | \n", + "
frameshift_elongation,NMD_transcript_variant,stop_retained_variant | \n", + "3.0 | \n", + "NaN | \n", + "
frameshift_elongation,start_lost | \n", + "3.0 | \n", + "NaN | \n", + "
inframe_deletion,stop_lost,3_prime_UTR_variant | \n", + "3.0 | \n", + "NaN | \n", + "
inframe_insertion,NMD_transcript_variant,stop_gained | \n", + "3.0 | \n", + "NaN | \n", + "
2kb_downstream_variant,NMD_transcript_variant,3_prime_UTR_variant | \n", + "2.0 | \n", + "NaN | \n", + "
2kb_upstream_variant,NMD_transcript_variant,5_prime_UTR_variant | \n", + "2.0 | \n", + "NaN | \n", + "
2kb_upstream_variant,scaRNA | \n", + "2.0 | \n", + "NaN | \n", + "
2kb_upstream_variant,start_lost,NMD_transcript_variant,transcript_ablation,5_prime_UTR_variant | \n", + "2.0 | \n", + "NaN | \n", + "
complex_substitution,inframe_deletion,stop_gained | \n", + "2.0 | \n", + "NaN | \n", + "
complex_substitution,start_lost,start_retained_variant | \n", + "2.0 | \n", + "NaN | \n", + "
exon_loss_variant,intron_variant,NMD_transcript_variant | \n", + "2.0 | \n", + "NaN | \n", + "
frameshift_truncation,start_lost,NMD_transcript_variant | \n", + "2.0 | \n", + "NaN | \n", + "
frameshift_truncation,stop_lost,3_prime_UTR_variant | \n", + "2.0 | \n", + "NaN | \n", + "
inframe_deletion,start_lost | \n", + "2.0 | \n", + "NaN | \n", + "
intron_variant,start_lost,5_prime_UTR_variant | \n", + "2.0 | \n", + "NaN | \n", + "
complex_substitution,frameshift_elongation,intron_variant,start_lost,start_retained_variant,synonymous_variant | \n", + "1.0 | \n", + "NaN | \n", + "
frameshift_elongation,NMD_transcript_variant,stop_lost | \n", + "1.0 | \n", + "NaN | \n", + "
frameshift_truncation,NMD_transcript_variant,stop_lost | \n", + "1.0 | \n", + "NaN | \n", + "
frameshift_truncation,NMD_transcript_variant,stop_lost,stop_retained_variant,3_prime_UTR_variant | \n", + "1.0 | \n", + "NaN | \n", + "
inframe_deletion,stop_lost,stop_retained_variant,3_prime_UTR_variant | \n", + "1.0 | \n", + "NaN | \n", + "
class | \n", + "high_impact | \n", + "low_impact | \n", + "
---|---|---|
so | \n", + "\n", + " | \n", + " |
synonymous_variant | \n", + "224.0 | \n", + "58633.0 | \n", + "
intron_variant | \n", + "4323.0 | \n", + "29861.0 | \n", + "
missense_variant | \n", + "9595.0 | \n", + "14398.0 | \n", + "
NMD_transcript_variant,3_prime_UTR_variant | \n", + "3290.0 | \n", + "6329.0 | \n", + "
processed_transcript | \n", + "2138.0 | \n", + "4814.0 | \n", + "
intron_variant,NMD_transcript_variant | \n", + "862.0 | \n", + "4696.0 | \n", + "
intron_variant,lnc_RNA | \n", + "3221.0 | \n", + "4231.0 | \n", + "
NMD_transcript_variant,synonymous_variant | \n", + "50.0 | \n", + "3823.0 | \n", + "
intron_variant,processed_transcript | \n", + "1026.0 | \n", + "2390.0 | \n", + "
2kb_upstream_variant | \n", + "680.0 | \n", + "2289.0 | \n", + "
2kb_downstream_variant,processed_transcript | \n", + "991.0 | \n", + "2175.0 | \n", + "
3_prime_UTR_variant | \n", + "227.0 | \n", + "2166.0 | \n", + "
2kb_downstream_variant | \n", + "760.0 | \n", + "2134.0 | \n", + "
2kb_upstream_variant,processed_transcript | \n", + "722.0 | \n", + "1686.0 | \n", + "
5_prime_UTR_variant | \n", + "1026.0 | \n", + "1672.0 | \n", + "
2kb_downstream_variant,NMD_transcript_variant | \n", + "757.0 | \n", + "1277.0 | \n", + "
missense_variant,NMD_transcript_variant | \n", + "740.0 | \n", + "1021.0 | \n", + "
2kb_upstream_variant,lnc_RNA | \n", + "452.0 | \n", + "975.0 | \n", + "
2kb_upstream_variant,NMD_transcript_variant | \n", + "151.0 | \n", + "637.0 | \n", + "
lnc_RNA | \n", + "140.0 | \n", + "498.0 | \n", + "
2kb_downstream_variant,lnc_RNA | \n", + "212.0 | \n", + "460.0 | \n", + "
inframe_deletion | \n", + "268.0 | \n", + "326.0 | \n", + "
NMD_transcript_variant,5_prime_UTR_variant | \n", + "42.0 | \n", + "208.0 | \n", + "
inframe_insertion | \n", + "20.0 | \n", + "168.0 | \n", + "
2kb_downstream_variant,miRNA | \n", + "42.0 | \n", + "108.0 | \n", + "
2kb_upstream_variant,miRNA | \n", + "67.0 | \n", + "102.0 | \n", + "
2kb_downstream_variant,NSD_transcript | \n", + "193.0 | \n", + "87.0 | \n", + "
NSD_transcript | \n", + "114.0 | \n", + "81.0 | \n", + "
2kb_downstream_variant,misc_RNA | \n", + "14.0 | \n", + "58.0 | \n", + "
2kb_upstream_variant,misc_RNA | \n", + "20.0 | \n", + "49.0 | \n", + "
stop_gained | \n", + "9535.0 | \n", + "47.0 | \n", + "
intron_variant,splice_site_variant | \n", + "5030.0 | \n", + "37.0 | \n", + "
complex_substitution,missense_variant | \n", + "39.0 | \n", + "36.0 | \n", + "
stop_retained_variant | \n", + "NaN | \n", + "29.0 | \n", + "
2kb_downstream_variant,snRNA | \n", + "4.0 | \n", + "27.0 | \n", + "
polymorphic_pseudogene | \n", + "54.0 | \n", + "24.0 | \n", + "
2kb_upstream_variant,NSD_transcript | \n", + "3.0 | \n", + "24.0 | \n", + "
inframe_deletion,NMD_transcript_variant | \n", + "3.0 | \n", + "19.0 | \n", + "
2kb_downstream_variant,snoRNA | \n", + "14.0 | \n", + "18.0 | \n", + "
frameshift_truncation | \n", + "5952.0 | \n", + "17.0 | \n", + "
intron_variant,NSD_transcript | \n", + "2.0 | \n", + "17.0 | \n", + "
NMD_transcript_variant,stop_gained | \n", + "801.0 | \n", + "16.0 | \n", + "
missense_variant,start_lost | \n", + "261.0 | \n", + "14.0 | \n", + "
2kb_upstream_variant,snoRNA | \n", + "3.0 | \n", + "13.0 | \n", + "
intron_variant,NMD_transcript_variant,splice_site_variant | \n", + "1202.0 | \n", + "12.0 | \n", + "
frameshift_elongation | \n", + "3074.0 | \n", + "10.0 | \n", + "
splice_site_variant | \n", + "183.0 | \n", + "10.0 | \n", + "
miRNA | \n", + "2.0 | \n", + "10.0 | \n", + "
inframe_insertion,NMD_transcript_variant | \n", + "3.0 | \n", + "9.0 | \n", + "
frameshift_truncation,stop_gained | \n", + "453.0 | \n", + "8.0 | \n", + "
complex_substitution,synonymous_variant | \n", + "NaN | \n", + "7.0 | \n", + "
NMD_transcript_variant | \n", + "14.0 | \n", + "6.0 | \n", + "
complex_substitution,missense_variant,NMD_transcript_variant | \n", + "10.0 | \n", + "5.0 | \n", + "
2kb_upstream_variant,ribozyme | \n", + "7.0 | \n", + "5.0 | \n", + "
2kb_upstream_variant,snRNA | \n", + "1.0 | \n", + "5.0 | \n", + "
frameshift_truncation,stop_lost,stop_retained_variant,3_prime_UTR_variant | \n", + "NaN | \n", + "5.0 | \n", + "
polymorphic_pseudogene,5_prime_UTR_variant | \n", + "16.0 | \n", + "4.0 | \n", + "
polymorphic_pseudogene,3_prime_UTR_variant | \n", + "NaN | \n", + "4.0 | \n", + "
missense_variant,start_lost,NMD_transcript_variant | \n", + "70.0 | \n", + "3.0 | \n", + "
misc_RNA | \n", + "NaN | \n", + "3.0 | \n", + "
frameshift_elongation,NMD_transcript_variant | \n", + "170.0 | \n", + "2.0 | \n", + "
NMD_transcript_variant,stop_lost | \n", + "5.0 | \n", + "2.0 | \n", + "
2kb_downstream_variant,stop_lost | \n", + "NaN | \n", + "2.0 | \n", + "
NSD_transcript,5_prime_UTR_variant | \n", + "NaN | \n", + "2.0 | \n", + "
NMD_transcript_variant,stop_retained_variant | \n", + "1.0 | \n", + "1.0 | \n", + "
ribozyme | \n", + "1.0 | \n", + "1.0 | \n", + "
2kb_upstream_variant,rRNA | \n", + "NaN | \n", + "1.0 | \n", + "
snoRNA | \n", + "NaN | \n", + "1.0 | \n", + "
start_retained_variant | \n", + "NaN | \n", + "1.0 | \n", + "
frameshift_truncation,NMD_transcript_variant | \n", + "312.0 | \n", + "NaN | \n", + "
complex_substitution,frameshift_truncation | \n", + "180.0 | \n", + "NaN | \n", + "
frameshift_elongation,stop_gained | \n", + "163.0 | \n", + "NaN | \n", + "
complex_substitution,frameshift_elongation | \n", + "74.0 | \n", + "NaN | \n", + "
complex_substitution,frameshift_elongation,intron_variant | \n", + "58.0 | \n", + "NaN | \n", + "
frameshift_truncation,NMD_transcript_variant,stop_gained | \n", + "48.0 | \n", + "NaN | \n", + "
exon_loss_variant,frameshift_truncation | \n", + "47.0 | \n", + "NaN | \n", + "
complex_substitution,stop_gained | \n", + "27.0 | \n", + "NaN | \n", + "
complex_substitution,inframe_insertion,intron_variant | \n", + "24.0 | \n", + "NaN | \n", + "
NMD_transcript_variant,splice_site_variant | \n", + "17.0 | \n", + "NaN | \n", + "
complex_substitution | \n", + "15.0 | \n", + "NaN | \n", + "
complex_substitution,frameshift_truncation,NMD_transcript_variant | \n", + "15.0 | \n", + "NaN | \n", + "
frameshift_elongation,NMD_transcript_variant,stop_gained | \n", + "10.0 | \n", + "NaN | \n", + "
exon_loss_variant,inframe_deletion | \n", + "9.0 | \n", + "NaN | \n", + "
complex_substitution,frameshift_elongation,NMD_transcript_variant | \n", + "8.0 | \n", + "NaN | \n", + "
complex_substitution,frameshift_elongation,intron_variant,NMD_transcript_variant | \n", + "7.0 | \n", + "NaN | \n", + "
complex_substitution,inframe_deletion,missense_variant | \n", + "7.0 | \n", + "NaN | \n", + "
inframe_deletion,stop_gained | \n", + "7.0 | \n", + "NaN | \n", + "
stop_lost | \n", + "7.0 | \n", + "NaN | \n", + "
exon_loss_variant,frameshift_truncation,NMD_transcript_variant | \n", + "6.0 | \n", + "NaN | \n", + "
inframe_insertion,stop_gained | \n", + "6.0 | \n", + "NaN | \n", + "
frameshift_elongation,stop_lost | \n", + "5.0 | \n", + "NaN | \n", + "
intron_variant,polymorphic_pseudogene | \n", + "4.0 | \n", + "NaN | \n", + "
complex_substitution,inframe_deletion | \n", + "3.0 | \n", + "NaN | \n", + "
snRNA | \n", + "3.0 | \n", + "NaN | \n", + "
complex_substitution,inframe_insertion | \n", + "2.0 | \n", + "NaN | \n", + "
complex_substitution,inframe_insertion,intron_variant,NMD_transcript_variant | \n", + "2.0 | \n", + "NaN | \n", + "
complex_substitution,inframe_insertion,intron_variant,missense_variant | \n", + "2.0 | \n", + "NaN | \n", + "
complex_substitution,inframe_insertion,stop_gained | \n", + "2.0 | \n", + "NaN | \n", + "
frameshift_truncation,stop_lost | \n", + "2.0 | \n", + "NaN | \n", + "
2kb_downstream_variant,intron_variant,stop_lost,3_prime_UTR_variant | \n", + "1.0 | \n", + "NaN | \n", + "
2kb_downstream_variant,stop_lost,3_prime_UTR_variant | \n", + "1.0 | \n", + "NaN | \n", + "
NMD_transcript_variant,stop_lost,3_prime_UTR_variant | \n", + "1.0 | \n", + "NaN | \n", + "
frameshift_truncation,start_lost | \n", + "1.0 | \n", + "NaN | \n", + "
inframe_insertion,NMD_transcript_variant,stop_gained | \n", + "1.0 | \n", + "NaN | \n", + "
start_lost,5_prime_UTR_variant | \n", + "1.0 | \n", + "NaN | \n", + "
\n", + " | cadd.phred | \n", + "
---|---|
class | \n", + "\n", + " |
high_impact | \n", + "26.55 | \n", + "
low_impact | \n", + "2.68 | \n", + "
\n", + " | cgc.class | \n", + "mutationtaster.prediction | \n", + "ccre_screen.bound | \n", + "cgc.inheritance | \n", + "so | \n", + "repeat.repeatclass | \n", + "cgd.inheritance | \n", + "prec.stat | \n", + "class | \n", + "aloft.pred | \n", + "mutationtaster.model | \n", + "coding | \n", + "gtex.gtex_tissue | \n", + "sift.confidence | \n", + "ensembl_regulatory_build.region | \n", + "genehancer.feature_name | \n", + "aloft.conf | \n", + "exac_gene.exac_cnv_flag | \n", + "dgi.interaction | \n", + "ccre_screen._group | \n", + "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
0 | \n", + "TSG | \n", + "NaN | \n", + "NaN | \n", + "somatic/germline | \n", + "synonymous_variant | \n", + "NaN | \n", + "NaN | \n", + "recessive | \n", + "low_impact | \n", + "NaN | \n", + "NaN | \n", + "Yes | \n", + "NaN | \n", + "High | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "N | \n", + "inhibitor | \n", + "NaN | \n", + "
1 | \n", + "TSG | \n", + "NaN | \n", + "NaN | \n", + "somatic/germline | \n", + "synonymous_variant | \n", + "NaN | \n", + "NaN | \n", + "recessive | \n", + "low_impact | \n", + "NaN | \n", + "NaN | \n", + "Yes | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "N | \n", + "inhibitor | \n", + "NaN | \n", + "
2 | \n", + "NaN | \n", + "Polymorphism | \n", + "NaN | \n", + "NaN | \n", + "missense_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "low_impact | \n", + "NaN | \n", + "simple_aae | \n", + "Yes | \n", + "NaN | \n", + "High | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "N | \n", + "NaN | \n", + "NaN | \n", + "
3 | \n", + "NaN | \n", + "Polymorphism | \n", + "NaN | \n", + "NaN | \n", + "missense_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "low_impact | \n", + "NaN | \n", + "simple_aae | \n", + "Yes | \n", + "NaN | \n", + "High | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "N | \n", + "NaN | \n", + "NaN | \n", + "
4 | \n", + "NaN | \n", + "Polymorphism | \n", + "NaN | \n", + "NaN | \n", + "missense_variant | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "low_impact | \n", + "NaN | \n", + "simple_aae | \n", + "Yes | \n", + "NaN | \n", + "High | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "N | \n", + "NaN | \n", + "NaN | \n", + "
\n", + " | chrom | \n", + "pos | \n", + "ref_base | \n", + "alt_base | \n", + "transcript | \n", + "CADD | \n", + "Cscape | \n", + "Clinpred | \n", + "DANN | \n", + "DANN_coding | \n", + "... | \n", + "Provean | \n", + "phdsnpg | \n", + "revel | \n", + "SIFT | \n", + "VEST | \n", + "dbscsnv.ada_score | \n", + "dbscsnv.rf_score | \n", + "varity_r | \n", + "varity_er | \n", + "Clinvar | \n", + "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
0 | \n", + "chr1 | \n", + "69134 | \n", + "A | \n", + "G | \n", + "ENST00000335137 | \n", + "16.91 | \n", + "0.480042 | \n", + "0.004 | \n", + "0.957771 | \n", + "0.957771 | \n", + "... | \n", + "-3.56 | \n", + "0.133 | \n", + "0.075 | \n", + "0.107 | \n", + "0.107 | \n", + "NaN | \n", + "NaN | \n", + "0.130339 | \n", + "0.187185 | \n", + "Likely_benign | \n", + "
1 | \n", + "chr1 | \n", + "69134 | \n", + "A | \n", + "G | \n", + "ENST00000641515 | \n", + "16.91 | \n", + "0.480042 | \n", + "0.004 | \n", + "0.957771 | \n", + "0.957771 | \n", + "... | \n", + "NaN | \n", + "0.133 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "0.130339 | \n", + "0.187185 | \n", + "Likely_benign | \n", + "
2 | \n", + "chr1 | \n", + "69581 | \n", + "C | \n", + "G | \n", + "ENST00000335137 | \n", + "23.40 | \n", + "0.279863 | \n", + "0.998 | \n", + "0.996460 | \n", + "0.996460 | \n", + "... | \n", + "-8.33 | \n", + "0.698 | \n", + "0.079 | \n", + "0.000 | \n", + "0.431 | \n", + "NaN | \n", + "NaN | \n", + "0.920156 | \n", + "0.857305 | \n", + "Uncertain_significance | \n", + "
3 | \n", + "chr1 | \n", + "69581 | \n", + "C | \n", + "G | \n", + "ENST00000641515 | \n", + "23.40 | \n", + "0.279863 | \n", + "0.998 | \n", + "0.996460 | \n", + "0.996460 | \n", + "... | \n", + "NaN | \n", + "0.698 | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "NaN | \n", + "0.920156 | \n", + "0.857305 | \n", + "Uncertain_significance | \n", + "
4 | \n", + "chr1 | \n", + "69682 | \n", + "G | \n", + "A | \n", + "ENST00000335137 | \n", + "20.80 | \n", + "0.329402 | \n", + "0.161 | \n", + "0.996149 | \n", + "0.996149 | \n", + "... | \n", + "0.13 | \n", + "0.025 | \n", + "0.112 | \n", + "0.186 | \n", + "0.073 | \n", + "NaN | \n", + "NaN | \n", + "0.075164 | \n", + "0.069712 | \n", + "Uncertain_significance | \n", + "
5 rows ร 32 columns
\n", + "