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 Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut SYTL2 54843 broad.mit.edu 37 11 85436918 85436918 + Silent SNP A A G TCGA-ET-A3BN-01A-11D-A19J-08 TCGA-ET-A3BN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67c66136-9911-40da-a760-b6bc24de8e5e d652b345-76f2-4f08-bc75-ced94e1c9491 g.chr11:85436918A>G ENST00000359152.5 - 1 2153 c.2154T>C c.(2152-2154)ctT>ctC p.L718L SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Silent_p.L194L|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000354566.3_Silent_p.L194L NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 231 C2 1. I -> V (in Ref. 4; BAB15030). intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CACTTGGTTCAAGCACTTGTT 0.403000 9 84 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50475259 50475259 + RNA SNP G G C rs12463036 by1000genomes TCGA-ET-A3BN-01A-11D-A19J-08 TCGA-ET-A3BN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67c66136-9911-40da-a760-b6bc24de8e5e d652b345-76f2-4f08-bc75-ced94e1c9491 g.chr19:50475259G>C ENST00000602139.1 + 0 1205 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 TGGGGTCCTGGAGCTGCCTCG 0.672000 4 61 0 0 1 0 0 NAPSA 9476 broad.mit.edu 37 19 50864374 50864374 + Silent SNP T T G TCGA-ET-A3BN-01A-11D-A19J-08 TCGA-ET-A3BN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67c66136-9911-40da-a760-b6bc24de8e5e d652b345-76f2-4f08-bc75-ced94e1c9491 g.chr19:50864374T>G ENST00000253719.2 - 5 700 c.492A>C c.(490-492)tcA>tcC p.S164S NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 164 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) CGAAAATCACTGATGCACCCT 0.507000 5 90 0 0 1 0 0 OR56A1 120796 broad.mit.edu 37 11 6048549 6048549 + Missense_Mutation SNP C C T TCGA-ET-A3BN-01A-11D-A19J-08 TCGA-ET-A3BN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67c66136-9911-40da-a760-b6bc24de8e5e d652b345-76f2-4f08-bc75-ced94e1c9491 g.chr11:6048549C>T ENST00000316650.5 - 1 422 c.386G>A c.(385-387)cGt>cAt p.R129H NM_001001917.2 NP_001001917.2 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, member 1 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCCACATAACGGTCATAGGC 0.507000 28 40 0 0 1 0 0 GALNT14 79623 broad.mit.edu 37 2 31147110 31147110 + Missense_Mutation SNP T T A TCGA-ET-A3BN-01A-11D-A19J-08 TCGA-ET-A3BN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67c66136-9911-40da-a760-b6bc24de8e5e d652b345-76f2-4f08-bc75-ced94e1c9491 g.chr2:31147110T>A ENST00000349752.5 - 13 1894 c.1255A>T c.(1255-1257)Atc>Ttc p.I419F GALNT14_ENST00000324589.5_Missense_Mutation_p.I424F|GALNT14_ENST00000406653.1_Missense_Mutation_p.I399F|GALNT14_ENST00000486564.1_Intron|GALNT14_ENST00000356174.3_Missense_Mutation_p.I386F|GALNT14_ENST00000420311.2_Missense_Mutation_p.I384F NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 419 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) CCCTTCTGGATGGAGGACTCC 0.537000 28 79 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123472877 123472877 + Silent SNP G G A TCGA-ET-A3BN-01A-11D-A19J-08 TCGA-ET-A3BN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67c66136-9911-40da-a760-b6bc24de8e5e d652b345-76f2-4f08-bc75-ced94e1c9491 g.chr12:123472877G>A ENST00000280562.5 - 19 3088 c.2883C>T c.(2881-2883)tcC>tcT p.S961S PITPNM2_ENST00000320201.4_Silent_p.S967S|PITPNM2_ENST00000392428.1_Silent_p.S688S|PITPNM2_ENST00000542749.1_Silent_p.S967S Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 0 DDHD. metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) CCAAGATGCTGGAGTTGTCAT 0.632000 10 146 0 0 1 0 0 ABHD8 79575 broad.mit.edu 37 19 17405126 17405126 + Missense_Mutation SNP G G A TCGA-ET-A3BN-01A-11D-A19J-08 TCGA-ET-A3BN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67c66136-9911-40da-a760-b6bc24de8e5e d652b345-76f2-4f08-bc75-ced94e1c9491 g.chr19:17405126G>A ENST00000247706.3 - 4 1359 c.1120C>T c.(1120-1122)Ccg>Tcg p.P374S MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 374 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 TCCTCCACCGGCACAAACTTA 0.672000 3 35 0 0 1 0 0 PIR 8544 broad.mit.edu 37 X 15509287 15509287 + Missense_Mutation SNP C C T TCGA-ET-A3BN-01A-11D-A19J-08 TCGA-ET-A3BN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67c66136-9911-40da-a760-b6bc24de8e5e d652b345-76f2-4f08-bc75-ced94e1c9491 g.chrX:15509287C>T ENST00000380421.3 - 2 554 c.94G>A c.(94-96)Gag>Aag p.E32K BMX_ENST00000357607.2_Intron|PIR_ENST00000476381.1_5'UTR|PIR_ENST00000380420.5_Missense_Mutation_p.E32K NM_001018109.2|NM_003662.3 NP_001018119.1|NP_003653.1 O00625 PIR_HUMAN pirin (iron-binding nuclear protein) 32 transcription from RNA polymerase II promoter cytoplasm|nucleus metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 Hepatocellular(33;0.183) TAGCATACCTCGGGTCTGCCA 0.552000 11 136 0 0 1 0 0 NFATC4 4776 broad.mit.edu 37 14 24839190 24839190 + Missense_Mutation SNP G G A TCGA-ET-A3BN-01A-11D-A19J-08 TCGA-ET-A3BN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67c66136-9911-40da-a760-b6bc24de8e5e d652b345-76f2-4f08-bc75-ced94e1c9491 g.chr14:24839190G>A ENST00000413692.2 + 3 919 c.775G>A c.(775-777)Gac>Aac p.D259N NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000556279.1_Missense_Mutation_p.D228N|NFATC4_ENST00000556169.1_Missense_Mutation_p.D184N|NFATC4_ENST00000539237.2_Missense_Mutation_p.D228N|NFATC4_ENST00000553708.1_Missense_Mutation_p.D196N|NFATC4_ENST00000554344.1_Missense_Mutation_p.D126N|NFATC4_ENST00000555590.1_Missense_Mutation_p.D209N|NFATC4_ENST00000553879.1_Missense_Mutation_p.D126N|NFATC4_ENST00000422617.3_Missense_Mutation_p.D184N|NFATC4_ENST00000250373.4_Missense_Mutation_p.D196N|NFATC4_ENST00000555453.1_Missense_Mutation_p.D184N|NFATC4_ENST00000554966.1_Missense_Mutation_p.D209N|NFATC4_ENST00000424781.2_Missense_Mutation_p.D209N|NFATC4_ENST00000557451.1_Missense_Mutation_p.D126N|NFATC4_ENST00000554661.1_Missense_Mutation_p.D126N|NFATC4_ENST00000553469.1_Missense_Mutation_p.D228N|NFATC4_ENST00000554050.1_Missense_Mutation_p.D196N|NFATC4_ENST00000554591.1_Missense_Mutation_p.D259N NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 196 2 approximate SP repeats.|Pro-rich. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) TGCAGCCTGCGACGAGGTGGA 0.682000 3 32 0 0 1 0 0 BRCA1 672 broad.mit.edu 37 17 41246314 41246314 + Missense_Mutation SNP C C T TCGA-ET-A3BN-01A-11D-A19J-08 TCGA-ET-A3BN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67c66136-9911-40da-a760-b6bc24de8e5e d652b345-76f2-4f08-bc75-ced94e1c9491 g.chr17:41246314C>T ENST00000309486.4 - 9 1373 c.346G>A c.(346-348)Gta>Ata p.V116I BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.V412I|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.V412I|BRCA1_ENST00000357654.3_Missense_Mutation_p.V412I|BRCA1_ENST00000493795.1_Missense_Mutation_p.V365I|BRCA1_ENST00000346315.3_Missense_Mutation_p.V412I NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 412 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding p.V412L(1) NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) ACGTCCAATACATCAGCTACT 0.383000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 9 114 0 0 1 0 0 USP49 25862 broad.mit.edu 37 6 41773536 41773536 + Missense_Mutation SNP C C T TCGA-ET-A3BN-01A-11D-A19J-08 TCGA-ET-A3BN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67c66136-9911-40da-a760-b6bc24de8e5e d652b345-76f2-4f08-bc75-ced94e1c9491 g.chr6:41773536C>T ENST00000394253.3 - 3 1515 c.1186G>A c.(1186-1188)Gac>Aac p.D396N USP49_ENST00000373006.1_Missense_Mutation_p.D396N|USP49_ENST00000373010.1_Missense_Mutation_p.D396N|USP49_ENST00000297229.2_Missense_Mutation_p.D396N|USP49_ENST00000373009.3_Missense_Mutation_p.D396N Q70CQ1 UBP49_HUMAN ubiquitin specific peptidase 49 396 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2) 23 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TCCTGTTGGTCGTAGCCGCGG 0.622000 6 36 0 0 1 0 0 SF3A3 10946 broad.mit.edu 37 1 38444416 38444416 + Frame_Shift_Del DEL T T - TCGA-ET-A3BN-01A-11D-A19J-08 TCGA-ET-A3BN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67c66136-9911-40da-a760-b6bc24de8e5e d652b345-76f2-4f08-bc75-ced94e1c9491 g.chr1:38444416delT ENST00000373019.4 - 11 1866 c.911delA c.(910-912)atfs p.N304fs SF3A3_ENST00000448721.2_Frame_Shift_Del_p.N251fs|SF3A3_ENST00000489537.1_5'UTR NM_006802.2 NP_006793.1 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3, 60kDa 304 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2) 12 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TGACTTGGGATTTTTGGCAAA 0.488 2 4 --- --- --- --- ATP6V1B2 526 broad.mit.edu 37 8 20077879 20077880 + In_Frame_Ins INS - - CGAATTTTA TCGA-ET-A3BN-01A-11D-A19J-08 TCGA-ET-A3BN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67c66136-9911-40da-a760-b6bc24de8e5e d652b345-76f2-4f08-bc75-ced94e1c9491 g.chr8:20077879_20077880insCGAATTTTA ENST00000276390.2 + 14 1542_1543 c.1502_1503insCGAATTTTA c.(1501-1503)aga>aCGAATTTTAga p.500_501insTNF NM_001693.3 NP_001684.2 P21281 VATB2_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 500 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(1)|kidney(2)|lung(5)|prostate(1) 9 Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211) AGCACCCTCAGCGAATTTTACC 0.465 11 90 --- --- --- ---