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 PRRC2A 7916 broad.mit.edu 37 6 31599848 31599848 + Missense_Mutation SNP C C T TCGA-EM-A2P1-01A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6655200-75a5-4c42-8360-5b6d42f24775 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr6:31599848C>T ENST00000376033.2 + 16 3632 c.3398C>T c.(3397-3399)aCc>aTc p.T1133I PRRC2A_ENST00000376007.4_Missense_Mutation_p.T1133I NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1133 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 GGAACACTCACCCAGGTCCCT 0.672000 8 104 0 0 0.006214 0 0 GRAMD4 23151 broad.mit.edu 37 22 47059056 47059056 + Silent SNP C C T rs145387351 TCGA-EM-A2P1-01A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6655200-75a5-4c42-8360-5b6d42f24775 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr22:47059056C>T ENST00000406902.1 + 6 799 c.586C>T c.(586-588)Ctg>Ttg p.L196L GRAMD4_ENST00000361034.3_Silent_p.L196L Q6IC98 GRAM4_HUMAN GRAM domain containing 4 196 apoptosis integral to membrane|mitochondrial membrane breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 12 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) AGAGGAACCCCTGAGCGCCCG 0.657000 23 102 0 0 0.002299 0 0 SDHAP1 0 broad.mit.edu 37 3 195698264 195698264 + RNA SNP T T C rs12485654 by1000genomes TCGA-EM-A2P1-01A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6655200-75a5-4c42-8360-5b6d42f24775 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr3:195698264T>C ENST00000427841.1 - 0 1608 NR_003264.2 TTTGTCAACATTCGTGACAGA 0.413000 3 60 0 0 0.004482 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890639 32890639 + RNA SNP T T C rs79284655 TCGA-EM-A2P1-01A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6655200-75a5-4c42-8360-5b6d42f24775 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr16:32890639T>C ENST00000330048.5 - 0 3159 NR_003083.2 ACCAGCGGCTTGTAGTACACA 0.627000 3 39 0 0 0.004672 0 0 LRIG2 9860 broad.mit.edu 37 1 113616164 113616164 + Missense_Mutation SNP C C T TCGA-EM-A2P1-01A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6655200-75a5-4c42-8360-5b6d42f24775 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr1:113616164C>T ENST00000361127.4 + 1 334 c.136C>T c.(136-138)Ccc>Tcc p.P46S NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 46 LRRNT. cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) CTGCCCCGCGCCCTGCTCCTG 0.652000 OREG0013684 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 253 0 0 0.001168 0 0 XRN1 54464 broad.mit.edu 37 3 142037638 142037638 + Silent SNP T T C TCGA-EM-A2P1-01A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6655200-75a5-4c42-8360-5b6d42f24775 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr3:142037638T>C ENST00000264951.4 - 38 4626 c.4509A>G c.(4507-4509)caA>caG p.Q1503Q XRN1_ENST00000392981.2_Silent_p.Q1504Q NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 1503 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 TTACCAACTGTTGTAAAGCAA 0.363000 5 52 0 0 0.000602 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629160 1629160 + Silent SNP C C T TCGA-EM-A2P1-01A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6655200-75a5-4c42-8360-5b6d42f24775 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr11:1629160C>T ENST00000399685.1 - 1 533 c.456G>A c.(454-456)aaG>aaA p.K152K NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 152 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) AGCAGCTGGGCTTGCAGCAGC 0.637000 6 368 0 0 0.004482 0 0 OTX1 5013 broad.mit.edu 37 2 63283329 63283329 + Missense_Mutation SNP G G A TCGA-EM-A2P1-01A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6655200-75a5-4c42-8360-5b6d42f24775 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr2:63283329G>A ENST00000366671.3 + 5 1219 c.943G>A c.(943-945)Gac>Aac p.D315N OTX1_ENST00000282549.2_Missense_Mutation_p.D315N NM_001199770.1 NP_001186699.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 315 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) CAACTCTGCCGACTGCTTGGA 0.607000 15 70 0 0 0.002450 0 0 FCGRT 2217 broad.mit.edu 37 19 50017183 50017183 + Missense_Mutation SNP C C G TCGA-EM-A2P1-01A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6655200-75a5-4c42-8360-5b6d42f24775 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr19:50017183C>G ENST00000221466.5 + 3 604 c.118C>G c.(118-120)Cct>Gct p.P40A FCGRT_ENST00000426395.3_Missense_Mutation_p.P40A|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000596975.1_Missense_Mutation_p.P40A|FCGRT_ENST00000599988.1_Intron NM_001136019.2 NP_001129491.1 P55899 FCGRN_HUMAN Fc fragment of IgG, receptor, transporter, alpha 40 Alpha-1. antigen processing and presentation|female pregnancy|immune response integral to membrane|MHC class I protein complex IgG binding|receptor activity endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 9 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156) GGTGTCCTCGCCTGCCCCGGG 0.657000 49 212 0 0 0.003610 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A2P1-01A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6655200-75a5-4c42-8360-5b6d42f24775 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 9 54 0 0 0.006214 0 0 RP1 6101 broad.mit.edu 37 8 55539380 55539380 + Missense_Mutation SNP G G A TCGA-EM-A2P1-01A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6655200-75a5-4c42-8360-5b6d42f24775 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr8:55539380G>A ENST00000220676.1 + 4 3086 c.2938G>A c.(2938-2940)Ggt>Agt p.G980S NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 980 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TAAAATTGCCGGTTTGACAGG 0.348000 5 173 0 0 0.001168 0 0 TSSC2 0 broad.mit.edu 37 11 3427759 3427759 + RNA SNP C C T TCGA-EM-A2P1-01A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6655200-75a5-4c42-8360-5b6d42f24775 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr11:3427759C>T ENST00000529482.1 + 0 876 TGTCTGCACACGTCCTGCAGT 0.612000 4 65 0 0 0.000248 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-EM-A2P1-01A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6655200-75a5-4c42-8360-5b6d42f24775 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 6 67 0 0 0.001168 0 0 DHRS4 10901 broad.mit.edu 37 14 24435536 24435536 + Silent SNP G G C rs75479712 TCGA-EM-A2P1-01A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6655200-75a5-4c42-8360-5b6d42f24775 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr14:24435536G>C ENST00000313250.5 + 6 779 c.576G>C c.(574-576)ctG>ctC p.L192L DHRS4_ENST00000543741.2_Intron|DHRS4_ENST00000397075.3_Intron|DHRS4_ENST00000421831.1_Silent_p.L140L|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000558581.1_Silent_p.L158L|DHRS4_ENST00000382761.3_Intron|DHRS4_ENST00000558263.1_Intron|DHRS4_ENST00000559632.1_Intron|DHRS4_ENST00000308178.8_Intron NM_021004.2 NP_066284.2 Q9BTZ2 DHRS4_HUMAN dehydrogenase/reductase (SDR family) member 4 192 mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) TGCTGGGCCTGACCAAGACCC 0.493000 4 239 0 0 0.006214 0 0 CSMD2 114784 broad.mit.edu 37 1 34128590 34128590 + Silent SNP C C T rs115110975 byFrequency TCGA-EM-A2P1-01A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6655200-75a5-4c42-8360-5b6d42f24775 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr1:34128590C>T ENST00000373381.4 - 26 4331 c.4155G>A c.(4153-4155)ccG>ccA p.P1385P CSMD2_ENST00000373380.1_Silent_p.P258P|CSMD2_ENST00000373388.2_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1345 Sushi 8. integral to membrane|plasma membrane protein binding p.A1346S(1)|p.P1345P(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGGGCAGGGCCGGGCCACTCA 0.572000 7 102 0 0 0.001984 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705897 41705897 + Missense_Mutation SNP G G C rs150633583 byFrequency TCGA-EM-A2P1-01A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6655200-75a5-4c42-8360-5b6d42f24775 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr13:41705897G>C ENST00000379485.1 - 1 985 c.751C>G c.(751-753)Ccc>Gcc p.P251A KBTBD6_ENST00000499385.2_Missense_Mutation_p.P185A NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 251 protein binding p.P251A(1) NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CGCTCTTTGGGAGCAGCCTCC 0.587000 3 125 0 0 0.004672 0 0 ADCY10 55811 broad.mit.edu 37 1 167805622 167805622 + Missense_Mutation SNP C C A TCGA-EM-A2P1-01A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6655200-75a5-4c42-8360-5b6d42f24775 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr1:167805622C>A ENST00000367848.1 - 23 3455 c.2958G>T c.(2956-2958)ttG>ttT p.L986F ADCY10_ENST00000485964.1_Intron|ADCY10_ENST00000545172.1_Missense_Mutation_p.L925F|ADCY10_ENST00000367851.4_Missense_Mutation_p.L1078F Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1078 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 CATTTTCTCCCAAAGCCAGAA 0.413000 5 84 0.00116845 0.00822239 0.001168 1 0 LINC00969 0 broad.mit.edu 37 3 195400822 195400822 + RNA SNP G G A rs56170658 by1000genomes TCGA-EM-A2P1-01A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6655200-75a5-4c42-8360-5b6d42f24775 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr3:195400822G>A ENST00000445430.1 + 0 1418 GTCTGGTCAGGCATGTGCCCT 0.572000 4 29 0 0 0.001984 0 0 SLC11A1 6556 broad.mit.edu 37 2 219252307 219252307 + Frame_Shift_Del DEL T T - TCGA-EM-A2P1-01A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6655200-75a5-4c42-8360-5b6d42f24775 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr2:219252307delT ENST00000233202.6 + 7 931 c.591delT c.(589-591)gcfs p.A197fs SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 197 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTGGAAGCTTTTTTTGGAC 0.448 7 608 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-EM-A2P1-01A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6655200-75a5-4c42-8360-5b6d42f24775 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 3 6 --- --- --- ---