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 STAB1 23166 broad.mit.edu 37 3 52539151 52539151 + Missense_Mutation SNP G G A TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr3:52539151G>A uc003dej.3 + 12 1584 c.1510G>A c.(1510-1512)Gat>Aat p.D504N STAB1_uc003dei.1_Missense_Mutation_p.D504N NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 504 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GACCCCTGGGGATCCCAAGGT 0.612000 7 82 0 0 1 0 0 PDE12 201626 broad.mit.edu 37 3 57543396 57543396 + Silent SNP G G A rs140975906 by1000genomes TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr3:57543396G>A uc003diw.4 + 0 1416 c.1290G>A c.(1288-1290)caG>caA p.Q430Q PDE12_uc003div.3_Silent_p.Q430Q NM_177966 NP_808881 Q6L8Q7 PDE12_HUMAN Homo sapiens phosphodiesterase 12 (PDE12), mRNA. 430 hydrolase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) AGGTGCTCCAGAGATCTTCTG 0.498000 4 52 0 0 1 0 0 WDTC1 23038 broad.mit.edu 37 1 27620562 27620562 + Missense_Mutation SNP C C T TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr1:27620562C>T uc009vst.2 + 7 1247 c.712C>T c.(712-714)Cgg>Tgg p.R238W WDTC1_uc001bno.3_Missense_Mutation_p.R238W|WDTC1_uc001bnp.1_Non-coding_Transcript|WDTC1_uc001bnq.3_5'Flank NM_015023 NP_055838 Q8N5D0 WDTC1_HUMAN Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA. 238 protein binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) CTTCTGTGACCGGCAGAAACC 0.547000 5 62 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2373655 2373655 + Missense_Mutation SNP C C T TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr16:2373655C>T uc002cpy.1 - 6 1194 c.482G>A c.(481-483)aGa>aAa p.R161K ABCA3_uc010bsk.1_Missense_Mutation_p.R161K|ABCA3_uc010bsl.1_Missense_Mutation_p.R161K|ABCA3_uc002cpz.1_Missense_Mutation_p.R161K NM_001089 NP_001080 Q99758 ABCA3_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. 161 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.R160W(1) breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CATGTAATTTCTCCGTGTGTA 0.493000 11 422 0 0 1 0 0 CTPS2 56474 broad.mit.edu 37 X 16720909 16720909 + Silent SNP G G A TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chrX:16720909G>A uc004cxk.3 - 1 861 c.117C>T c.(115-117)atC>atT p.I39I CTPS2_uc004cxl.3_Silent_p.I39I|CTPS2_uc004cxm.3_Silent_p.I39I NM_001144002 NP_787055 Q9NRF8 PYRG2_HUMAN Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA. 39 glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Hepatocellular(33;0.0997) TATAGGGGTCGATTTTTATGG 0.458000 5 71 0 0 1 0 0 SLC25A12 8604 broad.mit.edu 37 2 172641902 172641902 + Missense_Mutation SNP C C T TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr2:172641902C>T uc002uhh.2 - 17 2008 c.1919G>A c.(1918-1920)aGa>aAa p.R640K SLC25A12_uc010fqh.2_Missense_Mutation_p.R533K NM_003705 NP_003696 O75746 CMC1_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA. 640 gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) TGTGGCGAGTCTGTATCCACC 0.488000 7 93 0 0 1 0 0 SORBS3 10174 broad.mit.edu 37 8 22428458 22428458 + Missense_Mutation SNP G G C TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr8:22428458G>C uc003xbv.3 + 17 1807 c.1467G>C c.(1465-1467)gaG>gaC p.E489D SORBS3_uc003xbw.4_Missense_Mutation_p.E147D NM_005775 NP_005766 O60504 VINEX_HUMAN Homo sapiens sorbin and SH3 domain containing 3 (SORBS3), transcript variant 1, mRNA. 489 Binds to vinculin.|SH3 2. muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9) 18 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) AGGTGAACGAGAACTGGTACG 0.627000 8 55 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 10 76 0 0 1 0 0 PCSK7 9159 broad.mit.edu 37 11 117090319 117090319 + Silent SNP G G A TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr11:117090319G>A uc001pqr.3 - 9 1512 c.1311C>T c.(1309-1311)ttC>ttT p.F437F NM_004716 NP_004707 Q16549 PCSK7_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA. 437 Catalytic. peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 16 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) GGGTGGCTGTGAAGACAATGA 0.592000 T IGH@ MLCLS 3 28 0 0 1 0 0 CTPS2 56474 broad.mit.edu 37 X 16720901 16720901 + Missense_Mutation SNP T T C TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chrX:16720901T>C uc004cxk.3 - 1 869 c.125A>G c.(124-126)tAt>tGt p.Y42C CTPS2_uc004cxl.3_Missense_Mutation_p.Y42C|CTPS2_uc004cxm.3_Missense_Mutation_p.Y42C NM_001144002 NP_787055 Q9NRF8 PYRG2_HUMAN Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA. 42 glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Hepatocellular(33;0.0997) GATGTTAATATAGGGGTCGAT 0.448000 6 74 0 0 1 0 0 ODZ2 57451 broad.mit.edu 37 5 167182184 167182184 + Silent SNP G G A TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr5:167182184G>A uc003lzr.4 + 0 187 c.126G>A c.(124-126)gtG>gtA p.V42V ODZ2_uc021yhi.1_Intron|ODZ2_uc010jjd.3_Intron|ODZ2_uc003lzq.2_Silent_p.V42V NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) GGAAGGTTGTGATGGAGTCTC 0.483000 5 258 0 0 1 0 0 ZFAT 57623 broad.mit.edu 37 8 135649756 135649756 + Silent SNP C C T TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr8:135649756C>T uc003yup.3 - 2 582 c.396G>A c.(394-396)cgG>cgA p.R132R ZFAT_uc003yun.3_Silent_p.R120R|ZFAT_uc003yuo.3_Silent_p.R120R|ZFAT_uc010meh.3_Silent_p.R120R|ZFAT_uc010mej.3_Silent_p.R132R|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.R120R|ZFAT_uc003yur.3_Silent_p.R120R NM_020863 NP_001161055 Q9P243 ZFAT_HUMAN Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA. 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) AGATGTGCTTCCGCAGCTGGC 0.542000 4 50 0 0 1 0 0 TEX34 124783 broad.mit.edu 37 17 43331805 43331805 + Missense_Mutation SNP G G C TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr17:43331805G>C uc002iis.1 - 4 1239 c.1143C>G c.(1141-1143)atC>atG p.I381M LOC100133991_uc010dah.3_Intron|TEX34_uc010wjk.1_Missense_Mutation_p.I360M NM_152343 NP_689556 Q96LK8 CQ046_HUMAN Homo sapiens chromosome 17 open reading frame 46 (C17orf46), mRNA. 381 ATTTCTCTGGGATTGTGGGGG 0.507000 8 140 0 0 1 0 0