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 uc001pbb.3 - 0 594 c.582T>C c.(580-582)ctT>ctC p.L194L SYTL2_uc010rtg.2_Intron|SYTL2_uc010rth.2_Intron|SYTL2_uc010rti.2_Intron|SYTL2_uc010rtj.2_Intron|SYTL2_uc009yvj.3_Non-coding_Transcript|SYTL2_uc001pbd.3_Silent_p.L194L|SYTL2_uc001pbc.3_Silent_p.L194L|SYTL2_uc010rtf.2_Intron NM_206927 NP_996810 Q9HCH5 SYTL2_HUMAN Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant c, mRNA. 231 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine 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 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 uc010qzw.2 - 0 423 c.386G>A c.(385-387)cGt>cAt p.R129H NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA. 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 uc002rns.3 - 13 1910 c.1270A>T c.(1270-1272)Atc>Ttc p.I424F GALNT14_uc002rnq.3_Missense_Mutation_p.I399F|GALNT14_uc010ymr.2_Missense_Mutation_p.I384F|GALNT14_uc002rnr.3_Missense_Mutation_p.I419F|GALNT14_uc010ezo.2_Missense_Mutation_p.I386F NM_001253826 NP_001240755 Q96FL9 GLT14_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA. 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 uc001uej.1 - 18 3100 c.2901C>T c.(2899-2901)tcC>tcT p.S967S PITPNM2_uc001uek.1_Silent_p.S961S NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA. 967 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 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 uc004cwu.3 - 1 579 c.94G>A c.(94-96)Gag>Aag p.E32K FIGF_uc022bth.1_Non-coding_Transcript|PIR_uc004cwv.3_Missense_Mutation_p.E32K|BMX_uc004cww.3_Intron NM_003662 NP_003653 O00625 PIR_HUMAN Homo sapiens pirin (iron-binding nuclear protein) (PIR), transcript variant 1, mRNA. 32 transcription from RNA polymerase II promoter cytoplasm|nucleus metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity p.P31P(1) 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 uc010tol.2 + 2 891 c.775G>A c.(775-777)Gac>Aac p.D259N NFATC4_uc010alr.3_Missense_Mutation_p.D259N|NFATC4_uc010tok.2_Missense_Mutation_p.D259N|NFATC4_uc010als.2_Missense_Mutation_p.D209N|NFATC4_uc010too.2_Missense_Mutation_p.D209N|NFATC4_uc010tom.2_Missense_Mutation_p.D209N|NFATC4_uc010ton.2_Missense_Mutation_p.D209N|NFATC4_uc010toq.2_Missense_Mutation_p.D228N|NFATC4_uc010alt.3_Missense_Mutation_p.D228N|NFATC4_uc010top.2_Missense_Mutation_p.D228N|NFATC4_uc010alu.3_Intron|NFATC4_uc001wpc.3_Missense_Mutation_p.D196N|NFATC4_uc010tor.2_Missense_Mutation_p.D196N|NFATC4_uc010tos.2_Missense_Mutation_p.D126N|NFATC4_uc010tot.2_Missense_Mutation_p.D184N|NFATC4_uc010tou.2_Missense_Mutation_p.D126N|NFATC4_uc010tov.2_Missense_Mutation_p.D184N|NFATC4_uc010tow.2_Missense_Mutation_p.D126N|NFATC4_uc010alv.3_Missense_Mutation_p.D184N|NFATC4_uc010tox.2_Missense_Mutation_p.D126N|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank NM_001198966 NP_001185895 Q14934 NFAC4_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 4, mRNA. 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 uc002ict.3 - 9 1466 c.1234G>A c.(1234-1236)Gta>Ata p.V412I BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.V341I|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.V365I|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc002icq.3_Missense_Mutation_p.V412I|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.V412I|BRCA1_uc002ide.1_Missense_Mutation_p.V243I|BRCA1_uc010cyy.1_Missense_Mutation_p.V412I|BRCA1_uc010whs.1_Missense_Mutation_p.V412I|BRCA1_uc010cyz.2_Missense_Mutation_p.V365I|BRCA1_uc010cza.2_Missense_Mutation_p.V386I|BRCA1_uc010wht.1_Missense_Mutation_p.V116I NM_007300 NP_009231 P38398 BRCA1_HUMAN Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 2, mRNA. 412 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|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|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 DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|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 RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding p.V412L(2) 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 uc003ori.3 - 3 1408 c.1186G>A c.(1186-1188)Gac>Aac p.D396N NM_018561 NP_061031 Q70CQ1 UBP49_HUMAN Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA. 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 uc001cci.3 - 10 1035 c.911delA c.(910-912)aatfs p.N304fs SF3A3_uc010oik.2_Frame_Shift_Del_p.N251fs NM_006802 NP_006793 Q12874 SF3A3_HUMAN Homo sapiens splicing factor 3a, subunit 3, 60kDa (SF3A3), mRNA. 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 --- --- --- ---