Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF NBPF1 0 genome.wustl.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 1 16918653 16918653 C T SNP NBPF1 ENST00000392963 human ensembl 74_37 -1 known splice_site c.1+1 e0+1 0.202 - - - no_errors NBPF1 HGNC ENSG00000219481 43 0 0 22 3 12 TNN 0 genome.wustl.edu 37 1 175092707 175092707 + Missense_Mutation SNP C C T TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 1 175092707 175092707 C T SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.2822 p.T941M 0.542 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 91 0 0 68 6 8.10811 PDCD11 0 genome.wustl.edu 37 10 105202160 105202160 + Missense_Mutation SNP C C T TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 10 105202160 105202160 C T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.4898 p.T1633M 1.000 smart_HAT pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 147 1 0.675676 107 6 5.30973 COL17A1 0 genome.wustl.edu 37 10 105795287 105795287 + Silent SNP C C T TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 10 105795287 105795287 C T SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known silent c.3453 p.P1151 0.000 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 33 0 0 27 3 10 KCNMA1 0 genome.wustl.edu 37 10 79397033 79397033 + Missense_Mutation SNP C C T TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 10 79397033 79397033 C T SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.368 p.G123D 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 27 0 0 22 2 8.33333 CTSF 0 genome.wustl.edu 37 11 66335480 66335480 + Missense_Mutation SNP C C T TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 11 66335480 66335480 C T SNP CTSF ENST00000310325 human ensembl 74_37 -1 known missense c.287 p.R96Q 0.992 NULL pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSF HGNC ENSG00000174080 137 0 0 88 6 6.38298 TPP1 0 genome.wustl.edu 37 11 6637938 6637938 + Silent SNP C C G TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 11 6637938 6637938 C G SNP TPP1 ENST00000299427 human ensembl 74_37 -1 known silent c.840 p.L280 1.000 superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep - no_errors TPP1 HGNC ENSG00000166340 128 0 0 107 6 5.30973 SUV420H1 0 genome.wustl.edu 37 11 67939171 67939171 + Missense_Mutation SNP C C A TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 11 67939171 67939171 C A SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known missense c.659 p.R220L 1.000 smart_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 57 0 0 32 3 8.57143 ALG1L9P 0 genome.wustl.edu 37 11 71505808 71505808 + RNA SNP C C T TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 11 71505808 71505808 C T SNP ALG1L9P ENST00000511954 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors CTD-2313N18.5 Clone_based_vega_gene ENSG00000248671 44 0 0 31 4 11.4286 CACNA1C 0 genome.wustl.edu 37 12 2566863 2566863 + Missense_Mutation SNP G G A TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 12 2566863 2566863 G A SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.748 p.G250R 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 407 0 0 282 17 5.68562 ITPR2 0 genome.wustl.edu 37 12 26648092 26648092 + Silent SNP C C T TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 12 26648092 26648092 C T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known silent c.5175 p.Q1725 0.576 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 61 0 0 45 7 13.4615 PPP4C 0 genome.wustl.edu 37 16 30094833 30094833 + Missense_Mutation SNP G G A TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 16 30094833 30094833 G A SNP PPP4C ENST00000279387 human ensembl 74_37 +1 known missense c.422 p.R141H 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP4C HGNC ENSG00000149923 55 0 0 51 5 8.92857 KAT8 0 genome.wustl.edu 37 16 31131664 31131664 + Missense_Mutation SNP C C A TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 16 31131664 31131664 C A SNP KAT8 ENST00000448516 human ensembl 74_37 +1 known missense c.291 p.N97K 1.000 pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT8 HGNC ENSG00000103510 123 0 0 94 5 5.05051 RFX1 0 genome.wustl.edu 37 19 14079448 14079448 + Missense_Mutation SNP G G A TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 19 14079448 14079448 G A SNP RFX1 ENST00000254325 human ensembl 74_37 -1 known missense c.1661 p.A554V 0.983 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX1 HGNC ENSG00000132005 109 0 0 73 8 9.87654 ARHGAP33 0 genome.wustl.edu 37 19 36271837 36271837 + Missense_Mutation SNP G G A TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 19 36271837 36271837 G A SNP ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known missense c.845 p.R282H 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 147 0 0 93 5 5.10204 FPR2 0 genome.wustl.edu 37 19 52272624 52272624 + Missense_Mutation SNP G G A TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 19 52272624 52272624 G A SNP FPR2 ENST00000340023 human ensembl 74_37 +1 known missense c.713 p.R238H 0.743 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_DEZorph_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_DEZorph_rcpt - no_errors FPR2 HGNC ENSG00000171049 55 0 0 53 4 7.01754 SUMO3 0 genome.wustl.edu 37 21 46233863 46233863 + Missense_Mutation SNP G G C TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 21 46233863 46233863 G C SNP SUMO3 ENST00000411651 human ensembl 74_37 -1 known missense c.178 p.L60V 0.000 NULL pfam_Rad60/SUMO_like,pfscan_Ubiquitin_supergroup - no_errors SUMO3 HGNC ENSG00000184900 65 0 0 50 4 7.40741 PPP2R3A 0 genome.wustl.edu 37 3 135722102 135722102 + Nonsense_Mutation SNP C C T TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 3 135722102 135722102 C T SNP PPP2R3A ENST00000264977 human ensembl 74_37 +1 known nonsense c.1762 p.R588* 1.000 NULL pfscan_EF_hand_dom - no_errors PPP2R3A HGNC ENSG00000073711 83 0 0 62 5 7.46269 TIGD4 0 genome.wustl.edu 37 4 153691406 153691406 + Missense_Mutation SNP A A C TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 4 153691406 153691406 A C SNP TIGD4 ENST00000304337 human ensembl 74_37 -1 known missense c.751 p.C251G 0.247 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD4 HGNC ENSG00000169989 145 0 0 90 6 6.25 SRP72 0 genome.wustl.edu 37 4 57356812 57356812 + Splice_Site SNP G G A TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 4 57356812 57356812 G A SNP SRP72 ENST00000342756 human ensembl 74_37 +1 known splice_site c.1502+1 e15+1 1.000 - - - no_errors SRP72 HGNC ENSG00000174780 40 0 0 31 4 11.4286 DOCK2 0 genome.wustl.edu 37 5 169474616 169474616 + Missense_Mutation SNP C C T TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 5 169474616 169474616 C T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.4069 p.R1357W 0.998 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 80 0 0 41 4 8.88889 RXFP3 0 genome.wustl.edu 37 5 33936904 33936904 + Missense_Mutation SNP A A C TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 5 33936904 33936904 A C SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.59 p.K20T 0.012 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 119 0 0 93 6 6.06061 BMP6 0 genome.wustl.edu 37 6 7727541 7727541 + Missense_Mutation SNP A A T TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 6 7727541 7727541 A T SNP BMP6 ENST00000283147 human ensembl 74_37 +1 known missense c.353 p.Q118L 0.002 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 17 0 0 15 3 16.6667 CLDN23 0 genome.wustl.edu 37 8 8560088 8560088 + Missense_Mutation SNP G G T TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 8 8560088 8560088 G T SNP CLDN23 ENST00000519106 human ensembl 74_37 +1 known missense c.180 p.E60D 0.622 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN23 HGNC ENSG00000253958 32 0 0 20 2 9.09091 MAGEC3 0 genome.wustl.edu 37 X 140984463 140984463 + Missense_Mutation SNP C C T TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f X 140984463 140984463 C T SNP MAGEC3 ENST00000536088 human ensembl 74_37 +1 known missense c.25 p.R9C 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 194 0 0 141 15 9.61538 PLCXD1 0 genome.wustl.edu 37 X 207451 207451 + RNA SNP C C T TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f X 207451 207451 C T SNP PLCXD1 ENST00000484611 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PLCXD1 HGNC ENSG00000182378 50 0 0 29 3 9.375 NBPF10 0 genome.wustl.edu 37 1 145328401 145328406 + In_Frame_Del DEL GAAGAC GAAGAC - TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 GAAGAC GAAGAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 1 145328401 145328406 GAAGAC - DEL NBPF10 ENST00000342960 human ensembl 74_37 +1 known in_frame_del c.4249_4254 p.ED1419in_frame_del 0.007:0.009:0.010:0.014:0.016:0.017 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 11 0 0 4 3 42.8571 ATP6V1H 0 genome.wustl.edu 37 8 54742095 54742096 + Splice_Site INS - - A TCGA-BR-A4IZ-01A-32D-A25D-08 TCGA-BR-A4IZ-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ef5290da-bfcb-4880-9148-c8d5d1a6a4ac f814337f-39ee-4808-b2fa-29b10610254f 8 54742095 54742096 - A INS ATP6V1H ENST00000359530 human ensembl 74_37 -1 known splice_site_ins c.217-3_217-2 e3-2 0.998:0.112 - - - no_errors ATP6V1H HGNC ENSG00000047249 54 0 0 33 6 15.3846