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 C6orf136 221545 broad.mit.edu 37 6 30619209 30619209 + Missense_Mutation SNP C C T TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr6:30619209C>T ENST00000293604.6 + 4 1466 c.1273C>T c.(1273-1275)Cgg>Tgg p.R425W C6orf136_ENST00000376471.4_Missense_Mutation_p.R110W|C6orf136_ENST00000376473.5_Missense_Mutation_p.R244W|C6orf136_ENST00000528347.2_Missense_Mutation_p.R101W NM_001161376.1 NP_001154848.1 Q5SQH8 CF136_HUMAN chromosome 6 open reading frame 136 244 endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 GCTCTTTTTGCGGTTCTACAA 0.498000 6 285 0 0 0.029380 0 0 CCDC132 55610 broad.mit.edu 37 7 92869233 92869233 + Missense_Mutation SNP C C T TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr7:92869233C>T ENST00000305866.5 + 2 216 c.88C>T c.(88-90)Cgg>Tgg p.R30W CCDC132_ENST00000544910.1_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.R30W|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.R30W NM_017667.3 NP_060137.2 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 30 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) AGAGAGTCTCCGGGTCCCTGG 0.393000 3 79 0 0 0.009096 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr16:90161926T>C ENST00000564451.1 + 0 1279 TUBB8P7_ENST00000567960.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 4 30 0 0 0.021553 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 6 13 0 0 0.021553 0 0 OR2B2 81697 broad.mit.edu 37 6 27879450 27879450 + Silent SNP T T G rs147063988 by1000genomes TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr6:27879450T>G ENST00000303324.2 - 1 724 c.648A>C c.(646-648)atA>atC p.I216I NM_033057.2 NP_149046.2 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, member 2 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I216I(1) cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 AAGCATACGATATAAGGATGA 0.443000 4 67 0 0 0.014758 0 0 OBSCN 84033 broad.mit.edu 37 1 228437938 228437938 + Missense_Mutation SNP G G A TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr1:228437938G>A ENST00000570156.2 + 15 4656 c.4582G>A c.(4582-4584)Gca>Aca p.A1528T OBSCN_ENST00000422127.1_Missense_Mutation_p.A1436T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1436T NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 506 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCTGGACGTGGCAGGTCAGTG 0.632000 4 106 0 0 0.014758 0 0 BIN2 51411 broad.mit.edu 37 12 51696492 51696492 + Missense_Mutation SNP T T C TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr12:51696492T>C ENST00000267012.4 - 4 351 c.290A>G c.(289-291)gAg>gGg p.E97G BIN2_ENST00000452142.2_Missense_Mutation_p.E97G|BIN2_ENST00000604560.1_Missense_Mutation_p.E70G|BIN2_ENST00000544402.1_Missense_Mutation_p.E71G NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 97 BAR. cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 CTTCAGCTCCTCATGACCGTC 0.468000 3 164 0 0 0.004672 0 0 ACAN 176 broad.mit.edu 37 15 89401667 89401667 + Missense_Mutation SNP G G A TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr15:89401667G>A ENST00000439576.2 + 12 6225 c.5851G>A c.(5851-5853)Gcc>Acc p.A1951T ACAN_ENST00000352105.7_Missense_Mutation_p.A1951T|ACAN_ENST00000561243.1_Missense_Mutation_p.A1951T|ACAN_ENST00000559004.1_Missense_Mutation_p.A1951T NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1951 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGCTCCAACAGCCCAAGAGGC 0.517000 13 64 0 0 0.105934 0 0 GYPE 2996 broad.mit.edu 37 4 144826671 144826671 + Translation_Start_Site SNP C C T TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr4:144826671C>T ENST00000358615.4 - 0 41 GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame NM_198682.2 NP_941391.2 P15421 GLPE_HUMAN glycophorin E (MNS blood group) integral to plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_hematologic(180;0.158) CCTGAGATCACGAGCTGGCTC 0.398000 4 50 0 0 0.009096 0 0 KLHL10 317719 broad.mit.edu 37 17 40001678 40001678 + Missense_Mutation SNP C C A TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr17:40001678C>A ENST00000293303.4 + 3 1138 c.985C>A c.(985-987)Cgt>Agt p.R329S NM_152467.3 NP_689680.2 Q6JEL2 KLH10_HUMAN kelch-like family member 10 329 cytoplasm breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 Breast(137;0.000162) AGAGAGTCCCCGTGCCTACCA 0.493000 3 54 0.004672 0.00568765 0.004672 1 0 AMPD2 271 broad.mit.edu 37 1 110170763 110170763 + Missense_Mutation SNP T T C TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr1:110170763T>C ENST00000256578.3 + 10 1661 c.1301T>C c.(1300-1302)aTc>aCc p.I434T AMPD2_ENST00000528667.1_Missense_Mutation_p.I434T|AMPD2_ENST00000528454.1_Missense_Mutation_p.I316T|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Missense_Mutation_p.I315T|AMPD2_ENST00000342115.4_Missense_Mutation_p.I353T|AMPD2_ENST00000358729.4_Missense_Mutation_p.I359T NM_004037.7 NP_004028.3 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 434 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) CTGCGCTTCATCAAGCGGGCA 0.597000 4 20 0 0 0.009096 0 0 SPINK9 643394 broad.mit.edu 37 5 147716006 147716006 + Missense_Mutation SNP C C T TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr5:147716006C>T ENST00000511717.2 + 3 410 c.140C>T c.(139-141)aCg>aTg p.T47M RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000377906.1_Missense_Mutation_p.T26M Q5DT21 ISK9_HUMAN serine peptidase inhibitor, Kazal type 9 26 Kazal-like. extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(1)|urinary_tract(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCAAACAGACGAAACAGATG 0.303000 24 88 0 0 0.030593 0 0 CROCCP2 0 broad.mit.edu 37 1 16946437 16946437 + RNA SNP C C T rs2262202 TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr1:16946437C>T ENST00000412962.1 - 0 1082 AGCCTTCCGCCGGGCCAGCAG 0.672000 3 17 0 0 0.009096 0 0 TMEM176B 28959 broad.mit.edu 37 7 150493471 150493471 + Missense_Mutation SNP C C T rs141592438 byFrequency TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr7:150493471C>T ENST00000447204.2 - 2 559 c.187G>A c.(187-189)Gag>Aag p.E63K TMEM176B_ENST00000450753.2_Missense_Mutation_p.E63K|TMEM176B_ENST00000434545.1_Missense_Mutation_p.E63K|TMEM176B_ENST00000492607.1_Missense_Mutation_p.E63K|TMEM176B_ENST00000429904.2_Missense_Mutation_p.E63K|TMEM176B_ENST00000326442.5_Missense_Mutation_p.E63K NM_014020.3 NP_054739.3 Q3YBM2 T176B_HUMAN transmembrane protein 176B 63 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane p.E63Q(1) cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCAGCTGCTCATAACCAATC 0.498000 21 36 0 0 0.055883 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 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 18 41 0 0 0.038395 0 0 FRMPD3 84443 broad.mit.edu 37 X 106840699 106840699 + Nonsense_Mutation SNP C C A TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chrX:106840699C>A ENST00000276185.4 + 15 1689 c.1689C>A c.(1687-1689)taC>taA p.Y563* Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 563 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 GCTTCTGCTACCTCCATATGC 0.567000 19 50 8.34094e-07 1.11212e-06 0.049695 1 0 KIAA1432 57589 broad.mit.edu 37 9 5765543 5765543 + Missense_Mutation SNP G G A TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr9:5765543G>A ENST00000414202.2 + 20 3162 c.2971G>A c.(2971-2973)Gag>Aag p.E991K KIAA1432_ENST00000381532.2_Missense_Mutation_p.E912K|KIAA1432_ENST00000449720.2_Missense_Mutation_p.E875K|KIAA1432_ENST00000251879.6_Missense_Mutation_p.E991K|KIAA1432_ENST00000418622.3_Missense_Mutation_p.E912K NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 991 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) TGGAGAATCTGAGACACCTCC 0.458000 17 168 0 0 0.038395 0 0 VNN2 8875 broad.mit.edu 37 6 133070907 133070907 + Missense_Mutation SNP C C T TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr6:133070907C>T ENST00000326499.6 - 6 1422 c.1298G>A c.(1297-1299)gGc>gAc p.G433D VNN2_ENST00000525289.1_Missense_Mutation_p.G212D|VNN2_ENST00000525270.1_Missense_Mutation_p.G380D NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 433 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) TCCAAATGTGCCACTGAGGGA 0.393000 3 40 0 0 0.009096 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 66 0 0 0.004672 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 56 0 0 0.004672 0 0 KCTD16 57528 broad.mit.edu 37 5 143853530 143853531 + Frame_Shift_Ins INS - - A TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr5:143853530_143853531insA ENST00000507359.2 + 3 2231_2232 c.1140_1141insA c.(1138-1143)agaaaafs p.RK380fs KCTD16_ENST00000512467.1_Frame_Shift_Ins_p.RK380fs NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 380 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) ACATGAGCAGCAAAAAAAAAGC 0.465 7 105 --- --- --- --- RP11-179A10.1 0 broad.mit.edu 37 11 11158593 11158593 + RNA DEL A A - rs11303970 TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr11:11158593delA ENST00000525758.1 + 0 108 aaaaaaaaagaaaaaaaaata 0.388 3 4 --- --- --- --- CORO1B 57175 broad.mit.edu 37 11 67206198 67206199 + Frame_Shift_Ins INS - - G rs141781443 by1000genomes TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr11:67206198_67206199insG ENST00000393893.1 - 11 1390_1391 c.1287_1288insC c.(1285-1290)cccctcfs p.L430fs CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000341356.5_Frame_Shift_Ins_p.L430fs NM_001018070.2 NP_001018080.1 Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 430 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) GTGGTGGAGGCGGGGGCCCCTA 0.718 4 4 --- --- --- --- ABCA17P 0 broad.mit.edu 37 16 2475097 2475098 + RNA DEL TC TC - TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr16:2475097_2475098delTC ENST00000469908.1 + 0 3047 NR_003574.1 GGTAActctgtctctctctctc 0.559 2 4 --- --- --- --- CTD-2547E10.2 0 broad.mit.edu 37 16 21469994 21469994 + RNA DEL A A - TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr16:21469994delA ENST00000520823.2 - 0 749 ACTGTACATTAAAAAAAAAAA 0.294 2 4 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29113498 29113498 + RNA DEL T T - rs11366120 TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr16:29113498delT ENST00000564580.1 + 0 1360 AGGAGGTGGAttttttttttc 0.542 4 2 --- --- --- --- RP11-51O6.1 0 broad.mit.edu 37 16 61089303 61089303 + RNA DEL T T - rs80101907 TCGA-DJ-A1QD-01A-11D-A14W-08 TCGA-DJ-A1QD-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02432cdc-0578-4137-a58f-1283ba3cff5b c370d1ca-9037-4ff8-98a8-201c758d33a5 g.chr16:61089303delT ENST00000591758.1 - 0 565 Cttcttcttcttttttttttt 0.244 4 8 --- --- --- ---