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 NAT8 9027 broad.mit.edu 37 2 73868451 73868451 + Missense_Mutation SNP A A G TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr2:73868451A>G ENST00000272425.3 - 2 454 c.305T>C c.(304-306)cTg>cCg p.L102P NM_003960.3|NM_016347.2 NP_003951.3|NP_057431.2 Q9UHE5 NAT8_HUMAN N-acetyltransferase 8 (GCN5-related, putative) 102 N-acetyltransferase. gastrulation with mouth forming second|response to drug integral to membrane N-acetyltransferase activity breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1) 9 ACGCTCACTCAGGTAGGATTT 0.537000 49 146 0 0 0.870114 0 0 ATP2A2 488 broad.mit.edu 37 12 110734534 110734534 + Missense_Mutation SNP A A T TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr12:110734534A>T ENST00000395494.2 + 5 1018 c.455A>T c.(454-456)gAa>gTa p.E152V ATP2A2_ENST00000550248.2_3'UTR|ATP2A2_ENST00000308664.6_Missense_Mutation_p.E152V|ATP2A2_ENST00000539276.2_Missense_Mutation_p.E152V P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 152 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 GATATTGTAGAAATTGCTGGT 0.343000 26 94 0 0 0.667858 0 0 CACYBP 27101 broad.mit.edu 37 1 174973869 174973869 + Missense_Mutation SNP A A T TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr1:174973869A>T ENST00000367681.2 + 2 646 c.6A>T c.(4-6)caA>caT p.Q2H CACYBP_ENST00000367679.2_Missense_Mutation_p.Q45H|CACYBP_ENST00000405362.1_Missense_Mutation_p.Q2H|CACYBP_ENST00000406752.1_Missense_Mutation_p.Q45H NM_001007214.1 NP_001007215.1 Q9HB71 CYBP_HUMAN calcyclin binding protein 45 Interaction with SIAH1. beta-catenin destruction complex protein homodimerization activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1) 11 ACAAGATGCAACAGAAATCAC 0.403000 28 72 0 0 0.681144 0 0 PRKDC 5591 broad.mit.edu 37 8 48762023 48762023 + Missense_Mutation SNP C C A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr8:48762023C>A ENST00000314191.2 - 54 7100 c.7044G>T c.(7042-7044)ttG>ttT p.L2348F PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L2348F NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2349 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GATGTTGCTTCAATTGTTTCG 0.403000 Non-homologous end-joining 23 79 1.22574e-08 1.41564e-08 0.624587 1 0 PGK1 5230 broad.mit.edu 37 X 77369583 77369583 + Missense_Mutation SNP T T A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chrX:77369583T>A ENST00000373316.4 + 4 510 c.343T>A c.(343-345)Tct>Act p.S115T PGK1_ENST00000537456.1_Missense_Mutation_p.S87T|PGK1_ENST00000442431.1_Intron NM_000291.3 NP_000282.1 P00558 PGK1_HUMAN phosphoglycerate kinase 1 115 gluconeogenesis|glycolysis cytosol ATP binding|phosphoglycerate kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 24 AGCTGCTGGGTCTGTCATCCT 0.493000 86 79 0 0 0.870114 0 0 PTEN 5728 broad.mit.edu 37 10 89712006 89712006 + Silent SNP C C T TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr10:89712006C>T ENST00000371953.3 + 6 1981 c.624C>T c.(622-624)ggC>ggT p.G208G PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 208 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGTTCAGTGGCGGAACTTGCA 0.328000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 77 247 0 0 0.870114 0 0 DOCK3 1795 broad.mit.edu 37 3 51265449 51265449 + Missense_Mutation SNP C C T TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr3:51265449C>T ENST00000266037.9 + 17 1600 c.1577C>T c.(1576-1578)gCa>gTa p.A526V NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 526 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TTTGGCTTTGCATTCTCAACC 0.448000 21 38 0 0 0.639603 0 0 HYDIN 54768 broad.mit.edu 37 16 70866802 70866802 + Silent SNP A A G TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr16:70866802A>G ENST00000393567.2 - 80 13998 c.13848T>C c.(13846-13848)ccT>ccC p.P4616P NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4616 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TTAGACTCAGAGGACTGCCTC 0.562000 7 38 0 0 0.335167 0 0 TRPM5 29850 broad.mit.edu 37 11 2433463 2433463 + Missense_Mutation SNP G G T TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr11:2433463G>T ENST00000452833.1 - 16 2390 c.2382C>A c.(2380-2382)gaC>gaA p.D794E TRPM5_ENST00000528453.1_Missense_Mutation_p.D792E|TRPM5_ENST00000155858.6_Missense_Mutation_p.D792E|TRPM5_ENST00000533060.1_Missense_Mutation_p.D792E Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 792 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) CCAGGTGTGTGTCCTCGTCTG 0.582000 50 159 1.4374e-25 1.78586e-25 0.870114 1 0 HIVEP1 3096 broad.mit.edu 37 6 12164458 12164458 + Missense_Mutation SNP G G A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr6:12164458G>A ENST00000379388.2 + 9 8253 c.7921G>A c.(7921-7923)Gca>Aca p.A2641T HIVEP1_ENST00000541134.1_Missense_Mutation_p.A506T NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 2641 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GGCTGCCTCGGCAAATCACGT 0.507000 4 58 0 0 0.150653 0 0 COMMD10 51397 broad.mit.edu 37 5 115423221 115423221 + Missense_Mutation SNP T T A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr5:115423221T>A ENST00000274458.4 + 2 131 c.69T>A c.(67-69)aaT>aaA p.N23K COMMD10_ENST00000515539.1_Missense_Mutation_p.N9K NM_016144.2 NP_057228.1 Q9Y6G5 COMDA_HUMAN COMM domain containing 10 23 protein binding endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2) 9 all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05) CACTGATAAATGCAATAGATA 0.353000 36 119 0 0 0.779181 0 0 P2RX7 5027 broad.mit.edu 37 12 121570799 121570799 + Missense_Mutation SNP A A G TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr12:121570799A>G ENST00000546057.1 + 1 169 c.26A>G c.(25-27)gAt>gGt p.D9G P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000377162.2_Missense_Mutation_p.D9G|P2RX7_ENST00000328963.5_5'UTR|P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000535250.1_5'UTR NM_002562.5 NP_002553.3 A8K2Z0 A8K2Z0_HUMAN purinergic receptor P2X, ligand-gated ion channel, 7 9 integral to membrane ATP binding|ion channel activity|receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGCTGCAGTGATGTTTTCCAG 0.547000 36 102 0 0 0.812448 0 0 PRKDC 5591 broad.mit.edu 37 8 48762043 48762043 + Missense_Mutation SNP C C T TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr8:48762043C>T ENST00000314191.2 - 54 7080 c.7024G>A c.(7024-7026)Gaa>Aaa p.E2342K PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E2342K NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2343 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GCAACCAGTTCACACAGAGAC 0.368000 Non-homologous end-joining 20 55 0 0 0.575678 0 0 TIPIN 54962 broad.mit.edu 37 15 66645153 66645153 + Splice_Site SNP C C T TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr15:66645153C>T ENST00000261881.4 - 2 218 c.133_splice c.e2+1 p.E45_splice TIPIN_ENST00000367709.4_5'UTR NM_017858.2 NP_060328.2 Q9BVW5 TIPIN_HUMAN TIMELESS interacting protein 45 cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection cytoplasm|nuclear chromatin protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 7 CTATACATACCTTCATCAGGC 0.498000 19 58 0 0 0.592651 0 0 HFM1 164045 broad.mit.edu 37 1 91784679 91784679 + Missense_Mutation SNP A A C TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr1:91784679A>C ENST00000370425.3 - 25 2866 c.2768T>G c.(2767-2769)cTt>cGt p.L923R HFM1_ENST00000294696.5_Missense_Mutation_p.L155R|HFM1_ENST00000370424.3_Missense_Mutation_p.L602R|HFM1_ENST00000462405.1_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 923 SEC63. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) GTTTTCCCAAAGTTTACACCT 0.343000 22 76 0 0 0.624587 0 0 CCDC178 374864 broad.mit.edu 37 18 30847243 30847243 + Missense_Mutation SNP C C A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr18:30847243C>A ENST00000383096.3 - 13 1377 c.1195G>T c.(1195-1197)Gtt>Ttt p.V399F CCDC178_ENST00000403303.1_Missense_Mutation_p.V399F|CCDC178_ENST00000583930.1_Missense_Mutation_p.V399F|CCDC178_ENST00000402325.1_Missense_Mutation_p.V399F|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.V399F|CCDC178_ENST00000579947.1_Missense_Mutation_p.V399F|CCDC178_ENST00000300227.8_Missense_Mutation_p.V399F coiled-coil domain containing 178 TGGTCATAAACTCTTCTCAAA 0.308000 37 132 1.66425e-11 2.00689e-11 0.804634 1 0 KLK12 43849 broad.mit.edu 37 19 51532649 51532649 + Missense_Mutation SNP A A G TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr19:51532649A>G ENST00000250352.11 - 5 999 c.326T>C c.(325-327)gTg>gCg p.V109A KLK12_ENST00000250351.4_Missense_Mutation_p.V219A|KLK12_ENST00000319590.4_Missense_Mutation_p.V219A|KLK12_ENST00000529888.1_3'UTR|KLK12_ENST00000525263.1_Missense_Mutation_p.V219A Q9UKR0 KLK12_HUMAN kallikrein-related peptidase 12 219 Peptidase S1. proteolysis extracellular region|soluble fraction serine-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 12 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) ACAGGGCCCCACAGACCCCCA 0.552000 35 99 0 0 0.788014 0 0 PNPLA8 50640 broad.mit.edu 37 7 108155244 108155244 + Missense_Mutation SNP C C A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr7:108155244C>A ENST00000426128.2 - 2 817 c.692G>T c.(691-693)cGg>cTg p.R231L PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000436062.1_Missense_Mutation_p.R231L|PNPLA8_ENST00000422087.1_Missense_Mutation_p.R231L|PNPLA8_ENST00000453144.1_Missense_Mutation_p.R131L|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R231L|PNPLA8_ENST00000388728.5_Missense_Mutation_p.R231L NM_001256009.1 NP_001242938.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 231 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 TGATTTGTCCCGGAAATGTTC 0.343000 16 98 2.31682e-05 2.53306e-05 0.479597 1 0 PRKCB 5579 broad.mit.edu 37 16 24202477 24202477 + Missense_Mutation SNP C C G TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr16:24202477C>G ENST00000303531.7 + 16 1941 c.1789C>G c.(1789-1791)Cat>Gat p.H597D PRKCB_ENST00000321728.7_Missense_Mutation_p.H597D NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 597 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) TATCAAAGAGCATGCATTTTT 0.453000 21 129 0 0 0.592651 0 0 TH 7054 broad.mit.edu 37 11 2189843 2189843 + Missense_Mutation SNP C C T TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr11:2189843C>T ENST00000381178.1 - 4 476 c.458G>A c.(457-459)cGa>cAa p.R153Q TH_ENST00000352909.3_Missense_Mutation_p.R122Q|TH_ENST00000333684.5_Missense_Mutation_p.R126Q|TH_ENST00000381175.1_Missense_Mutation_p.R149Q NM_199292.2 NP_954986.2 P07101 TY3H_HUMAN tyrosine hydroxylase 153 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1) 11 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) GCCCCCAGCTCGCGGCCTCTG 0.632000 7 19 0 0 0.278610 0 0 HERC5 51191 broad.mit.edu 37 4 89383504 89383504 + Missense_Mutation SNP G G A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr4:89383504G>A ENST00000264350.3 + 4 838 c.685G>A c.(685-687)Gag>Aag p.E229K NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 229 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) GGGCCACACTGAGAGTATGGA 0.418000 12 28 0 0 0.411799 0 0 ASL 435 broad.mit.edu 37 7 65557847 65557847 + Missense_Mutation SNP T T A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr7:65557847T>A ENST00000304874.9 + 17 1445 c.1343T>A c.(1342-1344)gTc>gAc p.V448D ASL_ENST00000395332.3_Missense_Mutation_p.V448D|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000395331.3_Missense_Mutation_p.V428D|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000380839.4_Missense_Mutation_p.V422D NM_000048.3 NP_000039.2 P04424 ARLY_HUMAN argininosuccinate lyase 448 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 18 L-Arginine(DB00125) CGCTCCAGCGTCGACTGGCAG 0.677000 14 63 0 0 0.457914 0 0 VHL 7428 broad.mit.edu 37 3 10188245 10188245 + Missense_Mutation SNP G G T rs104893830 TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr3:10188245G>T ENST00000256474.2 + 2 1228 c.388G>T c.(388-390)Gtt>Ttt p.V130F VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 130 Involved in binding to CCT complex. V -> L (in ECYT2 and VHLD; type I). anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.V130L(9)|p.V130>F(1)|p.V130F(1)|p.H125fs*27(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) TGGGCTTCTGGTTAACCAAAC 0.463000 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 66 166 3.86002e-21 4.7242e-21 0.870114 1 0 ZFPM1 161882 broad.mit.edu 37 16 88599110 88599110 + Silent SNP G G A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr16:88599110G>A ENST00000319555.3 + 8 1357 c.1035G>A c.(1033-1035)acG>acA p.T345T NM_153813.2 NP_722520.2 Q8IX07 FOG1_HUMAN zinc finger protein, FOG family member 1 345 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding central_nervous_system(1)|ovary(2)|urinary_tract(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0478) ACACGGACACGCTGAGCGGTA 0.692000 6 16 0 0 0.307466 0 0 MUC16 94025 broad.mit.edu 37 19 9062202 9062202 + Missense_Mutation SNP G G C TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr19:9062202G>C ENST00000397910.4 - 3 25447 c.25244C>G c.(25243-25245)aCt>aGt p.T8415S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8417 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAATCCAGAAGTCAGGGAGGA 0.517000 26 96 0 0 0.681144 0 0 IGLV3-25 28793 broad.mit.edu 37 22 23029638 23029638 + RNA SNP C C A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr22:23029638C>A ENST00000390305.2 + 0 283 CTGAGCGATTCTCTGGCTCCA 0.522000 18 54 1.67942e-08 1.91267e-08 0.539581 1 0 ATR 545 broad.mit.edu 37 3 142177892 142177892 + Missense_Mutation SNP G G T rs150286172 byFrequency TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr3:142177892G>T ENST00000350721.4 - 44 7532 c.7411C>A c.(7411-7413)Ctg>Atg p.L2471M ATR_ENST00000383101.3_Missense_Mutation_p.L2407M NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2471 PI3K/PI4K. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 CCAAGCCCCAGAATATAACCA 0.373000 Other conserved DNA damage response genes 24 79 1.10923e-09 1.31822e-09 0.639603 1 0 WDFY3 23001 broad.mit.edu 37 4 85724573 85724573 + Missense_Mutation SNP T T C TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr4:85724573T>C ENST00000322366.6 - 16 2884 c.2477A>G c.(2476-2478)aAt>aGt p.N826S WDFY3_ENST00000295888.4_Missense_Mutation_p.N826S|WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000512267.1_5'UTR Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 826 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GTCGGCAACATTTTTAGGAGG 0.413000 4 106 0 0 0.184627 0 0 SLC26A1 10861 broad.mit.edu 37 4 982680 982680 + Missense_Mutation SNP C C T TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr4:982680C>T ENST00000361661.2 - 4 2424 c.2047G>A c.(2047-2049)Gcc>Acc p.A683T SLC26A1_ENST00000398516.2_Missense_Mutation_p.A683T|SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000509744.1_Intron|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron NM_213613.2 NP_998778.1 Q9H2B4 S26A1_HUMAN solute carrier family 26 (anion exchanger), member 1 683 STAS. integral to membrane|plasma membrane secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GTCTGCACGGCATCGTGCACA 0.682000 3 14 0 0 0.115264 0 0 SLC47A1 55244 broad.mit.edu 37 17 19452976 19452976 + Missense_Mutation SNP A A T TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr17:19452976A>T ENST00000270570.4 + 5 570 c.484A>T c.(484-486)Att>Ttt p.I162F SLC47A1_ENST00000571335.1_Silent_p.S13S|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000395585.1_Missense_Mutation_p.I162F|SLC47A1_ENST00000575023.1_Missense_Mutation_p.I162F|SLC47A1_ENST00000436810.2_Missense_Mutation_p.I139F|SLC47A1_ENST00000542886.1_Missense_Mutation_p.I162F|SLC47A1_ENST00000457293.1_Missense_Mutation_p.I162F NM_018242.2 NP_060712.2 Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 162 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) CACGATCTTCATTCCAGCTCT 0.458000 71 227 0 0 0.870114 0 0 DCTN1 1639 broad.mit.edu 37 2 74594532 74594532 + Missense_Mutation SNP G G A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr2:74594532G>A ENST00000361874.3 - 19 2517 c.2200C>T c.(2200-2202)Cac>Tac p.H734Y DCTN1_ENST00000409438.1_Missense_Mutation_p.H600Y|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409567.3_Missense_Mutation_p.H714Y|DCTN1_ENST00000409868.1_Missense_Mutation_p.H717Y|DCTN1_ENST00000409240.1_Missense_Mutation_p.H697Y|DCTN1_ENST00000407639.2_Missense_Mutation_p.H600Y|DCTN1_ENST00000394003.3_Missense_Mutation_p.H727Y NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 734 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 TCGGCAAGGTGGATGCTGTAC 0.522000 11 30 0 0 0.457914 0 0 SLC1A6 6511 broad.mit.edu 37 19 15083538 15083538 + Missense_Mutation SNP G G C TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr19:15083538G>C ENST00000598504.1 - 4 1544 c.185C>G c.(184-186)aCg>aGg p.T62R SLC1A6_ENST00000600144.1_Missense_Mutation_p.T62R|SLC1A6_ENST00000544886.2_Missense_Mutation_p.T62R|SLC1A6_ENST00000430939.2_Missense_Mutation_p.D66E|SLC1A6_ENST00000221742.3_Missense_Mutation_p.T62R NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 62 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) GGCGCTGACCGTCAGCAGAAT 0.627000 3 36 0 0 0.115264 0 0 MLKL 197259 broad.mit.edu 37 16 74725180 74725180 + Silent SNP G G A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr16:74725180G>A ENST00000308807.7 - 4 1180 c.717C>T c.(715-717)agC>agT p.S239S MLKL_ENST00000306247.7_Intron NM_152649.2 NP_689862.1 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like 239 Protein kinase. ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 cttacgcaatgcTGCCAGCCT 0.428000 118 315 0 0 0.870114 0 0 MDC1 9656 broad.mit.edu 37 6 30680150 30680150 + Silent SNP T T C TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr6:30680150T>C ENST00000376406.3 - 5 2216 c.1569A>G c.(1567-1569)acA>acG p.T523T MDC1_ENST00000376405.2_Silent_p.T523T|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 523 Required for nuclear localization (NLS1). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 TCTCCACTTGTGTGTTGATGT 0.502000 Other conserved DNA damage response genes 23 75 0 0 0.681144 0 0 HIST1H2BI 8346 broad.mit.edu 37 6 26273395 26273395 + Silent SNP C C T TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr6:26273395C>T ENST00000377733.2 + 1 252 c.192C>T c.(190-192)aaC>aaT p.N64N NM_003525.2 NP_003516.1 P62807 H2B1C_HUMAN histone cluster 1, H2bi 64 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1) 16 GGATTATGAACTCCTTCGTCA 0.567000 11 293 0 0 0.387290 0 0 CUL9 23113 broad.mit.edu 37 6 43156328 43156328 + Silent SNP G G T TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr6:43156328G>T ENST00000252050.4 + 8 2139 c.2055G>T c.(2053-2055)gtG>gtT p.V685V CUL9_ENST00000372647.2_Silent_p.V685V|CUL9_ENST00000354495.3_Silent_p.V575V NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 685 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CAGCGGTCGTGGCCACTGTGC 0.592000 14 36 9.31168e-06 1.04597e-05 0.435327 1 0 PNO1 56902 broad.mit.edu 37 2 68400546 68400546 + Silent SNP T T C rs146981426 TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr2:68400546T>C ENST00000263657.2 + 6 779 c.688T>C c.(688-690)Ttg>Ctg p.L230L NM_020143.2 NP_064528.1 Q9NRX1 PNO1_HUMAN partner of NOB1 homolog (S. cerevisiae) 230 nucleolus RNA binding endometrium(1)|large_intestine(1)|lung(2) 4 CAACCTAATCTTGGGTAATAG 0.373000 31 103 0 0 0.796494 0 0 KNTC1 9735 broad.mit.edu 37 12 123054258 123054258 + Missense_Mutation SNP A A C TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr12:123054258A>C ENST00000333479.7 + 22 1924 c.1747A>C c.(1747-1749)Atg>Ctg p.M583L KNTC1_ENST00000450485.2_Missense_Mutation_p.M546L NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 583 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TGATGTGAAAATGCTGGAGAG 0.363000 30 106 0 0 0.729181 0 0 MUSK 4593 broad.mit.edu 37 9 113549999 113549999 + Missense_Mutation SNP T T A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr9:113549999T>A ENST00000416899.2 + 12 1910 c.1784T>A c.(1783-1785)tTc>tAc p.F595Y MUSK_ENST00000374448.4_Missense_Mutation_p.F603Y|MUSK_ENST00000374438.1_Missense_Mutation_p.F119Y|MUSK_ENST00000189978.5_Missense_Mutation_p.F603Y O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 603 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 TATGAACCTTTCACTATGGTG 0.438000 15 44 0 0 0.500413 0 0 UBBP4 23666 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 5 82 0.00116845 0.00124432 0.217242 1 0 RABGAP1 23637 broad.mit.edu 37 9 125746779 125746779 + Missense_Mutation SNP A A G TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr9:125746779A>G ENST00000373647.4 + 3 300 c.166A>G c.(166-168)Agt>Ggt p.S56G NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 56 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 AGGGAATGGAAGTGAACAGCA 0.428000 8 26 0 0 0.278610 0 0 TTN 7273 broad.mit.edu 37 2 179658188 179658188 + Silent SNP T T C TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr2:179658188T>C ENST00000589042.1 - 9 1703 c.1479A>G c.(1477-1479)tcA>tcG p.S493S TTN_ENST00000342992.6_Silent_p.S493S|TTN_ENST00000460472.2_Silent_p.S493S|TTN_ENST00000359218.5_Silent_p.S493S|TTN_ENST00000360870.5_Silent_p.S493S|TTN_ENST00000342175.6_Silent_p.S493S|TTN_ENST00000591111.1_Silent_p.S493S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 493 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTTGGTTCTTGATTTTAATT 0.403000 61 173 0 0 0.870114 0 0 ACAN 176 broad.mit.edu 37 15 89391157 89391157 + Silent SNP C C T TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr15:89391157C>T ENST00000439576.2 + 9 1994 c.1620C>T c.(1618-1620)agC>agT p.S540S ACAN_ENST00000559004.1_Silent_p.S540S|ACAN_ENST00000352105.7_Silent_p.S540S|ACAN_ENST00000561243.1_Silent_p.S540S|ACAN_ENST00000558207.1_Silent_p.S540S NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 540 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) CCATTGTGAGCCCCCGGACCC 0.602000 22 64 0 0 0.608945 0 0 LILRB5 10990 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 5 47 0 0 0.184627 0 0 EXOC3L1 283849 broad.mit.edu 37 16 67219061 67219061 + Missense_Mutation SNP C C T TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr16:67219061C>T ENST00000314586.6 - 11 1967 c.1727G>A c.(1726-1728)cGc>cAc p.R576H NM_178516.3 NP_848611.2 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 1 576 exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 21 GTTCCGCACGCGCCAGAAGTC 0.677000 17 53 0 0 0.500413 0 0 PDZD2 23037 broad.mit.edu 37 5 32098517 32098517 + Missense_Mutation SNP G G A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr5:32098517G>A ENST00000438447.1 + 23 8383 c.7995G>A c.(7993-7995)atG>atA p.M2665I PDZD2_ENST00000282493.3_Missense_Mutation_p.M2665I O15018 PDZD2_HUMAN PDZ domain containing 2 2665 PDZ 5. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AAGGGACTATGAACCGAGGGG 0.547000 17 71 0 0 0.539581 0 0 INTS6-AS1 100507398 broad.mit.edu 37 13 52035501 52035501 + RNA SNP G G A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr13:52035501G>A ENST00000594959.1 + 0 411 INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000599315.1_RNA AAAATAATGTGGCAAGATTAA 0.408000 4 23 0 0 0.150653 0 0 PRKCD 5580 broad.mit.edu 37 3 53215262 53215262 + Nonsense_Mutation SNP C C T TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr3:53215262C>T ENST00000394729.2 + 4 683 c.355C>T c.(355-357)Cag>Tag p.Q119* PRKCD_ENST00000330452.3_Nonsense_Mutation_p.Q119* NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 119 activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GATGTCTGTTCAGTATTTCCT 0.622000 9 19 0 0 0.335167 0 0 CES1 1066 broad.mit.edu 37 16 55855371 55855371 + Missense_Mutation SNP C C A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr16:55855371C>A ENST00000422046.2 - 5 880 c.599G>T c.(598-600)tGg>tTg p.W200L CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Missense_Mutation_p.W201L|CES1_ENST00000361503.4_Missense_Mutation_p.W200L P23141 EST1_HUMAN carboxylesterase 1 200 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) GTCCTGGACCCAGCGCAGGGC 0.582000 10 81 3.86212e-05 4.16702e-05 0.361761 1 0 VILL 50853 broad.mit.edu 37 3 38038588 38038588 + Silent SNP C C T TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr3:38038588C>T ENST00000283713.6 + 6 737 c.471C>T c.(469-471)agC>agT p.S157S VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Silent_p.S157S O15195 VILL_HUMAN villin-like 157 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) CCTGGAACAGCTTTAATAAGG 0.542000 OREG0015474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 64 0 0 0.760397 0 0 RERE 473 broad.mit.edu 37 1 8420609 8420609 + Silent SNP T T G TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr1:8420609T>G ENST00000337907.3 - 19 3592 c.2958A>C c.(2956-2958)ccA>ccC p.P986P RERE_ENST00000377464.1_Silent_p.P718P|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Silent_p.P432P|RERE_ENST00000400908.2_Silent_p.P986P NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 986 Pro-rich. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P986P(4) central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GTTGCAGGGGTGGGGGGTGAG 0.706000 8 26 0 0 0.335167 0 0 RNF213 57674 broad.mit.edu 37 17 78350219 78350219 + Missense_Mutation SNP G G A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr17:78350219G>A ENST00000582970.1 + 52 13447 c.13304G>A c.(13303-13305)aGt>aAt p.S4435N RNF213_ENST00000508628.2_Missense_Mutation_p.S4484N|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.S2508N NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GCGGGGCCTAGTGACAGCAAC 0.498000 51 156 0 0 0.870114 0 0 SRCAP 10847 broad.mit.edu 37 16 30750345 30750345 + Missense_Mutation SNP C C G TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr16:30750345C>G ENST00000262518.4 + 34 9369 c.8984C>G c.(8983-8985)aCt>aGt p.T2995S SRCAP_ENST00000344771.4_Missense_Mutation_p.T2837S|SRCAP_ENST00000395059.2_Missense_Mutation_p.T2933S NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2995 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) ACTGTCACCACTGTCACCATT 0.602000 17 58 0 0 0.520397 0 0 DNAH9 1770 broad.mit.edu 37 17 11778481 11778481 + Silent SNP C C A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr17:11778481C>A ENST00000262442.3 + 53 10526 c.10458C>A c.(10456-10458)gtC>gtA p.V3486V DNAH9_ENST00000454412.2_Silent_p.V3486V|RP11-628O18.1_ENST00000579621.1_RNA NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3486 AAA 5 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ATCTCCGGGTCACGCAGATTG 0.458000 9 46 0.00448238 0.00471225 0.307466 1 0 ESR2 2100 broad.mit.edu 37 14 64716381 64716381 + Missense_Mutation SNP C C T TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr14:64716381C>T ENST00000557772.1 - 6 1107 c.1108G>A c.(1108-1110)Gta>Ata p.V370I ESR2_ENST00000353772.3_Missense_Mutation_p.V370I|ESR2_ENST00000341099.4_Missense_Mutation_p.V370I|ESR2_ENST00000267525.6_Intron|ESR2_ENST00000555278.1_Missense_Mutation_p.V370I|ESR2_ENST00000553796.1_Missense_Mutation_p.V370I|ESR2_ENST00000542956.1_Missense_Mutation_p.V370I|ESR2_ENST00000358599.5_Missense_Mutation_p.V370I|ESR2_ENST00000554572.1_Missense_Mutation_p.V370I|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000357782.2_Missense_Mutation_p.V370I NM_001214903.1 NP_001201832.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 370 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) ATTCCTTCTACGCATTTCCCC 0.363000 5 101 0 0 0.184627 0 0 ANKMY1 51281 broad.mit.edu 37 2 241439472 241439472 + Silent SNP C C T TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr2:241439472C>T ENST00000391987.1 - 15 2808 c.2442G>A c.(2440-2442)cgG>cgA p.R814R ANKMY1_ENST00000401804.1_Silent_p.R903R|ANKMY1_ENST00000373318.2_Silent_p.R593R|ANKMY1_ENST00000373320.4_Silent_p.R584R|ANKMY1_ENST00000361678.4_Silent_p.R590R|ANKMY1_ENST00000272972.3_Silent_p.R814R|ANKMY1_ENST00000406958.1_Silent_p.R575R|ANKMY1_ENST00000403283.1_Silent_p.R716R Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 814 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) GGAGCCGCTTCCGCGCCAGGA 0.652000 4 12 0 0 0.217242 0 0 SPG11 80208 broad.mit.edu 37 15 44876035 44876035 + Missense_Mutation SNP A A G TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr15:44876035A>G ENST00000261866.7 - 30 5859 c.5843T>C c.(5842-5844)aTt>aCt p.I1948T SPG11_ENST00000535302.2_Missense_Mutation_p.I1948T|SPG11_ENST00000558319.1_Missense_Mutation_p.I1948T|SPG11_ENST00000427534.2_Missense_Mutation_p.I1948T NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1948 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CCTTAGGGGAATGTCGGGTGC 0.527000 23 80 0 0 0.706142 0 0 OIP5 11339 broad.mit.edu 37 15 41624695 41624695 + Missense_Mutation SNP C C A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr15:41624695C>A ENST00000220514.3 - 1 124 c.65G>T c.(64-66)gGt>gTt p.G22V NM_007280.1 NP_009211.1 O43482 MS18B_HUMAN Opa interacting protein 5 22 cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis Cajal body|chromatin|chromosome, centromeric region protein binding endometrium(3)|lung(1)|urinary_tract(1) 5 all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175) OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163) CTCAGTGCCACCACAAAAGTC 0.652000 28 79 8.53417e-09 9.99718e-09 0.769981 1 0 CUL7 9820 broad.mit.edu 37 6 43018715 43018715 + Silent SNP A A G TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr6:43018715A>G ENST00000535468.1 - 4 1562 c.1476T>C c.(1474-1476)ccT>ccC p.P492P CUL7_ENST00000265348.3_Silent_p.P408P NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 408 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CCTGCACAGGAGGCACACCGT 0.597000 20 60 0 0 0.624587 0 0 CILP 8483 broad.mit.edu 37 15 65491129 65491129 + Missense_Mutation SNP C C A TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr15:65491129C>A ENST00000261883.4 - 9 1661 c.1495G>T c.(1495-1497)Gct>Tct p.A499S NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 499 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CCATTGTCAGCAGCACTGACA 0.607000 5 51 1.23904e-05 1.37299e-05 0.184627 1 0 MT1H 4496 broad.mit.edu 37 16 56704457 56704457 + Missense_Mutation SNP A A G TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr16:56704457A>G ENST00000569155.1 + 2 113 c.68A>G c.(67-69)aAg>aGg p.K23R MT1H_ENST00000332374.4_Missense_Mutation_p.K23R P80294 MT1H_HUMAN metallothionein 1H 23 Beta. metal ion binding|protein binding lung(5) 5 AAGTGCAAAAAGTGCAAATGC 0.567000 21 67 0 0 0.608945 0 0 COPB2 9276 broad.mit.edu 37 3 139090593 139090593 + Missense_Mutation SNP C C T TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr3:139090593C>T ENST00000333188.5 - 10 1358 c.1177G>A c.(1177-1179)Gag>Aag p.E393K COPB2_ENST00000507777.1_Missense_Mutation_p.E364K NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 393 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 CATGCAAACTCCTGAGCAGAT 0.458000 25 85 0 0 0.681144 0 0 TIE1 7075 broad.mit.edu 37 1 43782949 43782949 + Missense_Mutation SNP G G C TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr1:43782949G>C ENST00000372476.3 + 15 2568 c.2489G>C c.(2488-2490)aGc>aCc p.S830T TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.S475T NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 830 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GAGCCCCTGAGCTACCCAGTG 0.602000 18 66 0 0 0.667858 0 0 GP6 51206 broad.mit.edu 37 19 55539166 55539166 + Silent SNP T T A rs115934645 by1000genomes TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr19:55539166T>A ENST00000310373.3 - 4 417 c.390A>T c.(388-390)gtA>gtT p.V130V CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000333884.2_Silent_p.V130V|GP6_ENST00000417454.1_Silent_p.V130V|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA NM_001083899.1 NP_001077368.1 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) 130 Ig-like C2-type 2. enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) ACTGTAGGGTTACGTCCCCTC 0.557000 10 232 0 0 0.387290 0 0 COL11A1 1301 broad.mit.edu 37 1 103474038 103474039 + Frame_Shift_Ins INS - - T rs149894788 TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr1:103474038_103474039insT ENST00000358392.2 - 15 2016_2017 c.1699_1700insA c.(1699-1701)tggfs p.W567fs COL11A1_ENST00000353414.4_Frame_Shift_Ins_p.W516fs|COL11A1_ENST00000370096.3_Frame_Shift_Ins_p.W555fs|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Frame_Shift_Ins_p.W439fs NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 555 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TGGATCACCACTCTCACCTTTG 0.376 41 137 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168115152 168115156 + Frame_Shift_Del DEL ATCAT ATCAT - TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr2:168115152_168115156delATCAT ENST00000409728.1 + 11 2284_2288 c.2195_2199delATCAT c.(2194-2199)afs p.NH732fs XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409756.2_Frame_Shift_Del_p.NH699fs|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Frame_Shift_Del_p.NH477fs|XIRP2_ENST00000409043.1_Frame_Shift_Del_p.NH699fs|XIRP2_ENST00000420519.1_Frame_Shift_Del_p.NH732fs|XIRP2_ENST00000409273.1_3'UTR NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATGCCAGAAAATCATAAAGAAAATT 0.307 15 76 --- --- --- --- CUL3 8452 broad.mit.edu 37 2 225360644 225360645 + Frame_Shift_Ins INS - - TA TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr2:225360644_225360645insTA ENST00000264414.4 - 13 2084_2085 c.1746_1747insTA c.(1744-1749)gtctggfs p.W583fs CUL3_ENST00000409777.1_Frame_Shift_Ins_p.W559fs|CUL3_ENST00000409096.1_Frame_Shift_Ins_p.W559fs|CUL3_ENST00000344951.4_Frame_Shift_Ins_p.W517fs NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 583 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TTAGAGCCAGTTACTTGTGCAC 0.332 36 164 --- --- --- --- RP11-6N13.1 0 broad.mit.edu 37 5 103837966 103837969 + RNA DEL TCTC TCTC - rs138155987 TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr5:103837966_103837969delTCTC ENST00000503650.1 - 0 328 ttcttttctttctctctctctctc 0.348 3 3 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100696355 100696355 + Frame_Shift_Del DEL G G - TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr7:100696355delG ENST00000306151.4 + 10 13256 c.13192delG c.(13192-13194)ggfs p.G4398fs NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4398 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CGTGGGGGCAGGGGTCGTGCT 0.592 19 69 --- --- --- --- TRBV7-1 28597 broad.mit.edu 37 7 142032162 142032163 + RNA DEL GA GA - TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr7:142032162_142032163delGA ENST00000547918.2 + 0 82 atgtgtgtgtgAGAGAGAGAGA 0.505 4 8 --- --- --- --- PLEKHA7 144100 broad.mit.edu 37 11 16822525 16822525 + Frame_Shift_Del DEL A A - TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr11:16822525delA ENST00000355661.3 - 17 2415 c.2405delT c.(2404-2406)tcfs p.F802fs PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Frame_Shift_Del_p.F802fs|PLEKHA7_ENST00000448080.2_Frame_Shift_Del_p.F802fs Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 802 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 GGTCACCTGGAAAAAAAAGGC 0.443 7 251 --- --- --- --- LOC101928989 101928989 broad.mit.edu 37 11 81642004 81642005 + RNA DEL TA TA - TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr11:81642004_81642005delTA ENST00000500502.1 - 0 940 cctttgtgtgtatttgtgtgtg 0.327 2 4 --- --- --- --- RP5-944M2.3 0 broad.mit.edu 37 12 126944190 126944191 + RNA INS - - A rs11267870 TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr12:126944190_126944191insA ENST00000397346.3 + 0 1031 gaaagagaaagaaagaaagaaa 0.351 2 4 --- --- --- --- RP11-208K4.1 0 broad.mit.edu 37 15 48198789 48198790 + RNA DEL AC AC - TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr15:48198789_48198790delAC ENST00000560900.1 + 0 195 tttcttgcttacacacacacac 0.351 3 4 --- --- --- --- BCL2L10 10017 broad.mit.edu 37 15 52402170 52402170 + Splice_Site DEL C C - TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr15:52402170delC ENST00000260442.3 - 2 538 c.489_splice c.e2-1 p.D164_splice BCL2L10_ENST00000561198.1_Splice_Site_p.G187_splice NM_020396.2 NP_065129.1 Q9HD36 B2L10_HUMAN BCL2-like 10 (apoptosis facilitator) 154 activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 all cancers(107;0.0148) CAAAAGCCATCCTACAGGGGG 0.453 24 105 --- --- --- --- UBE2Q2P2 100134869 broad.mit.edu 37 15 83040943 83040944 + RNA INS - - T TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr15:83040943_83040944insT ENST00000558477.1 + 0 233 NR_004847.2 GAACAAAAATCTTTTTTTTTTT 0.312 3 5 --- --- --- --- RP11-396B14.2 0 broad.mit.edu 37 16 11316747 11316748 + RNA INS - - AGAAAGAGAG rs138552076 by1000genomes TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr16:11316747_11316748insAGAAAGAGAG ENST00000572466.1 + 0 186 p.0?(1) caaaaaaagaaagagagagaga 0.465 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11058603 11058603 + RNA DEL G G - rs57429001 TCGA-BP-4965-01A-01D-1462-08 TCGA-BP-4965-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96b01dbc-0333-4215-acd5-c3b91278f86c 3fbf9388-6996-471b-8df8-ff21e961d894 g.chr21:11058603delG ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAAACCTAAAGATTTTTTTTT 0.269 3 3 --- --- --- ---