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 SPATA18 132671 broad.mit.edu 37 4 52944970 52944970 + Missense_Mutation SNP T T A TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr4:52944970T>A ENST00000295213.4 + 8 1464 c.1090T>A c.(1090-1092)Tct>Act p.S364T SPATA18_ENST00000419395.2_Missense_Mutation_p.S332T NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 364 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) GTTGACACCATCTTATGTGGG 0.378000 6 111 0 0 0.278610 0 0 MT-RNR2 0 broad.mit.edu 37 MT 2622 2622 + RNA SNP G G A TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chrM:2622G>A ENST00000387347.2 + 0 952 NR_039705.1 tccttaaatagggacctgtat 0.507000 14 6 0 0 0.557998 0 0 KMT2C 58508 broad.mit.edu 37 7 151970814 151970814 + Missense_Mutation SNP G G T TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr7:151970814G>T ENST00000355193.2 - 7 1206 c.988C>A c.(988-990)Cac>Aac p.H330N KMT2C_ENST00000262189.6_Missense_Mutation_p.H330N lysine (K)-specific methyltransferase 2C TGGTCAATGTGTTCTGGACAA 0.393000 4 196 0.00116845 0.00132085 0.217242 1 0 GOLGA6L5 0 broad.mit.edu 37 15 85053142 85053142 + RNA SNP C C T TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr15:85053142C>T ENST00000414190.2 - 0 310 NR_003246.2 TTTTTCAATTCCTTGACCCGC 0.413000 5 10 0 0 0.184627 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12847399 12847399 + Silent SNP G G A TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr17:12847399G>A ENST00000379672.5 + 10 1047 c.747G>A c.(745-747)gaG>gaA p.E249E ARHGAP44_ENST00000262444.9_Silent_p.E249E|ARHGAP44_ENST00000340825.3_Silent_p.E249E NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 249 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 CCTGGGTAGAGAAGCCTTCCT 0.572000 3 13 0 0 0.115264 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884617 24884617 + Missense_Mutation SNP G G A TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr14:24884617G>A ENST00000382554.3 + 9 3980 c.3662G>A c.(3661-3663)cGc>cAc p.R1221H NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1221 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CATTTTTCCCGCTGCATTGGA 0.632000 4 46 0 0 0.184627 0 0 NUP210 23225 broad.mit.edu 37 3 13438886 13438886 + Missense_Mutation SNP T T C TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr3:13438886T>C ENST00000254508.5 - 3 489 c.407A>G c.(406-408)gAg>gGg p.E136G NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 136 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) GATCTTCAGCTCCAGGGGGGA 0.602000 19 41 0 0 0.608945 0 0 POMP 51371 broad.mit.edu 37 13 29242675 29242675 + Silent SNP G G A TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr13:29242675G>A ENST00000380842.4 + 4 309 c.228G>A c.(226-228)ccG>ccA p.P76P POMP_ENST00000460403.1_3'UTR NM_015932.5 NP_057016.1 Q9Y244 POMP_HUMAN proteasome maturation protein 76 proteasome assembly cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex endometrium(2)|kidney(1)|large_intestine(1) 4 Lung SC(185;0.0367) all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216) TATTTGCTCCGCTAAAATTAC 0.368000 17 59 0 0 0.592651 0 0 KRTAP4-12 83755 broad.mit.edu 37 17 39280114 39280114 + Silent SNP T T C TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr17:39280114T>C ENST00000394014.1 - 1 305 c.261A>G c.(259-261)agA>agG p.R87R NM_031854.2 NP_114060.1 Q9BQ66 KR412_HUMAN keratin associated protein 4-12 87 31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC]. keratin filament p.R87R(3) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCACTGGGGTCTGCAGCAGC 0.677000 6 155 0 0 0.335167 0 0 KIF25 0 broad.mit.edu 37 6 168430272 168430272 + Missense_Mutation SNP T T A TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr6:168430272T>A ENST00000443060.2 + 3 398 c.7T>A c.(7-9)Tgg>Agg p.W3R KIF25_ENST00000351261.3_Missense_Mutation_p.W3R|KIF25_ENST00000354419.2_Missense_Mutation_p.W3R Q9UIL4 KIF25_HUMAN kinesin family member 25 3 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity p.W3R(1) NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) CCAGATGACATGGACCTCAGG 0.612000 5 102 0 0 0.217242 0 0 SAGE1 55511 broad.mit.edu 37 X 134988581 134988581 + Missense_Mutation SNP A A C rs145404090 byFrequency TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chrX:134988581A>C ENST00000535938.1 + 7 774 c.607A>C c.(607-609)Act>Cct p.T203P SAGE1_ENST00000370709.3_Missense_Mutation_p.T203P|SAGE1_ENST00000324447.3_Missense_Mutation_p.T203P|SAGE1_ENST00000537770.1_Intron NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 203 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) TGCTACAGTCACTCACAATGT 0.443000 43 101 0 0 0.870114 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895492 42895492 + Missense_Mutation SNP G G A TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr4:42895492G>A ENST00000399770.2 + 1 209 c.209G>A c.(208-210)gGt>gAt p.G70D NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 70 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 GAGTCAGAAGGTGATGAGAAT 0.463000 4 154 0 0 0.184627 0 0 LPPR1 0 broad.mit.edu 37 9 104086314 104086314 + Missense_Mutation SNP C C A TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr9:104086314C>A ENST00000374874.3 + 8 1392 c.953C>A c.(952-954)tCt>tAt p.S318Y LPPR1_ENST00000395056.2_Missense_Mutation_p.S318Y NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 318 integral to membrane catalytic activity CAGAATCACTCTGCGTCCATG 0.418000 4 47 0.0215528 0.0228723 0.217242 1 0 DNAJC16 23341 broad.mit.edu 37 1 15892459 15892459 + Missense_Mutation SNP C C G TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr1:15892459C>G ENST00000375847.3 + 12 1808 c.1644C>G c.(1642-1644)ttC>ttG p.F548L DNAJC16_ENST00000375838.1_Missense_Mutation_p.F548L|DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Missense_Mutation_p.F548L NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 548 cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) CTGCCCTCTTCATCCTCTTCG 0.443000 74 258 0 0 0.870114 0 0 WDR17 116966 broad.mit.edu 37 4 177058695 177058695 + Missense_Mutation SNP G G A TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr4:177058695G>A ENST00000393643.2 + 9 1544 c.1292G>A c.(1291-1293)gGa>gAa p.G431E WDR17_ENST00000280190.4_Missense_Mutation_p.G455E|WDR17_ENST00000508596.1_Missense_Mutation_p.G431E|WDR17_ENST00000507824.2_Missense_Mutation_p.G438E NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 455 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) ATTGCTGGGGGAACTTCCCGA 0.289000 14 45 0 0 0.520397 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 35 0 0 0.217242 0 0 CENPB 1059 broad.mit.edu 37 20 3766889 3766889 + Missense_Mutation SNP A A T TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr20:3766889A>T ENST00000379751.4 - 1 448 c.242T>A c.(241-243)cTc>cAc p.L81H NM_001810.5 NP_001801.1 P07199 CENPB_HUMAN centromere protein B, 80kDa 81 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 CCAGGCGATGAGCAAGCCCTC 0.652000 21 44 0 0 0.681144 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11383 11383 + Missense_Mutation SNP T T C TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chrM:11383T>C ENST00000361381.2 + 1 624 c.624T>C c.(622-624)ccT>ccC p.208_208insP mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 GTAAAGATACCTCTTTACGGA 0.433000 6 5 0 0 0.307466 0 0 MERTK 10461 broad.mit.edu 37 2 112702569 112702569 + Nonsense_Mutation SNP C C A rs143570667 TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr2:112702569C>A ENST00000295408.4 + 3 772 c.515C>A c.(514-516)tCg>tAg p.S172* MERTK_ENST00000421804.2_Nonsense_Mutation_p.S172*|MERTK_ENST00000409780.1_5'UTR Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 172 Ig-like C2-type 1. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 GACAATGGGTCGTATATCTGT 0.408000 15 51 6.44725e-10 7.98231e-10 0.624587 1 0 ZRSR2 8233 broad.mit.edu 37 X 15809137 15809137 + Splice_Site SNP G G T TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chrX:15809137G>T ENST00000307771.7 + 2 145 c.e2+1 ZRSR2_ENST00000468028.1_Splice_Site|ZRSR2_ENST00000380308.3_Splice_Site NM_005089.3 NP_005080.1 Q15696 U2AFM_HUMAN zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 spliceosome assembly U12-type spliceosomal complex nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2) 48 Hepatocellular(33;0.183) AGAGACTCAGGTGATGGACTC 0.458000 """F, S, Mis""" """MDS, CLL""" 6 13 0.000157383 0.000181865 0.278610 1 0 TENM3 55714 broad.mit.edu 37 4 183675933 183675933 + Silent SNP C C T TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr4:183675933C>T ENST00000511685.1 + 22 4536 c.4413C>T c.(4411-4413)ctC>ctT p.L1471L TENM3_ENST00000406950.2_Silent_p.L1471L|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 ATGCCAAACTCAGTGCCCCAT 0.498000 14 46 0 0 0.539581 0 0 TAS2R5 54429 broad.mit.edu 37 7 141490469 141490469 + Missense_Mutation SNP A A G TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr7:141490469A>G ENST00000247883.4 + 1 453 c.308A>G c.(307-309)tAt>tGt p.Y103C NM_018980.2 NP_061853.1 Q9NYW4 TA2R5_HUMAN taste receptor, type 2, member 5 103 chemosensory behavior|sensory perception of taste taste receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 Melanoma(164;0.0171) AGTGTCTTCTATTGCAAGAAG 0.517000 11 28 0 0 0.387290 0 0 GOLGA8EP 0 broad.mit.edu 37 15 23444052 23444052 + RNA SNP G G A TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr15:23444052G>A ENST00000526079.1 + 0 1696 NR_027407.1|NR_033350.1 GAGGCACCTCGGCCCATGCCG 0.607000 4 111 0 0 0.217242 0 0 RPTN 126638 broad.mit.edu 37 1 152128617 152128617 + Missense_Mutation SNP T T C rs12117644 TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr1:152128617T>C ENST00000316073.3 - 3 1022 c.958A>G c.(958-960)Agt>Ggt p.S320G NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 320 Gln-rich. S -> G (in dbSNP:rs12117644). proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TCCGTCTGACTGTAGTGGGAA 0.507000 8 757 0 0 0.387290 0 0 PRG4 10216 broad.mit.edu 37 1 186276100 186276100 + Missense_Mutation SNP A A C TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr1:186276100A>C ENST00000445192.2 + 7 1294 c.1249A>C c.(1249-1251)Acc>Ccc p.T417P PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T374P|PRG4_ENST00000367485.4_Missense_Mutation_p.T324P|PRG4_ENST00000367483.4_Missense_Mutation_p.T376P NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 417 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T417P(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCACCACCACCAAGGAGCC 0.652000 3 44 0 0 0.184627 0 0 HELQ 113510 broad.mit.edu 37 4 84368107 84368107 + Missense_Mutation SNP T T C TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr4:84368107T>C ENST00000295488.3 - 4 1435 c.1273A>G c.(1273-1275)Act>Gct p.T425A HELQ_ENST00000510985.1_Intron NM_133636.2 NP_598375.2 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 425 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 CTTCTTTTAGTTGGAGGAAAT 0.353000 Other identified genes with known or suspected DNA repair function 12 48 0 0 0.435327 0 0 CPSF7 79869 broad.mit.edu 37 11 61196740 61196740 + Missense_Mutation SNP T T C TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr11:61196740T>C ENST00000340437.4 - 2 177 c.97A>G c.(97-99)Atc>Gtc p.I33V CPSF7_ENST00000439958.3_5'UTR|CPSF7_ENST00000394888.4_5'UTR|CPSF7_ENST00000448745.1_5'UTR|CPSF7_ENST00000541963.1_5'UTR NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 0 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 GTCCGGAGGATGGACAAAGTA 0.502000 18 61 0 0 0.539581 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661478 22661478 + RNA SNP T T G TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr22:22661478T>G ENST00000426066.1 + 0 368 NR_027293.1 CAGATGCGTCTGAAGAAACAT 0.488000 4 49 0 0 0.278610 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21790127 21790127 + Nonsense_Mutation SNP G G T TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr14:21790127G>T ENST00000206660.6 + 13 1726 c.1726G>T c.(1726-1728)Gaa>Taa p.E576* RPGRIP1_ENST00000400017.2_Nonsense_Mutation_p.E576*|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.E218*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.E549*|RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.E549* Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 576 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) CAAGCAGCTGGAAGGTATTTT 0.443000 5 26 0.000157383 0.000181865 0.278610 1 0 PLCE1 51196 broad.mit.edu 37 10 95849072 95849072 + Missense_Mutation SNP A A T TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr10:95849072A>T ENST00000371375.1 + 1 221 c.221A>T c.(220-222)gAg>gTg p.E74V PLCE1_ENST00000260766.3_Intron|RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000371380.2_Intron|PLCE1_ENST00000371385.3_Missense_Mutation_p.E74V Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 0 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) CCGCTCTCTGAGGTACCCAAT 0.512000 6 79 0 0 0.217242 0 0 UBBP4 0 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr17:21730847G>T ENST00000584755.1 + 2 546 c.149G>T c.(148-150)cGg>cTg p.R50L UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCGGGAAGATGGC 0.522000 3 30 0.014758 0.0159878 0.184627 1 0 EPHB3 2049 broad.mit.edu 37 3 184298196 184298196 + Missense_Mutation SNP G G A rs34170386 TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr3:184298196G>A ENST00000330394.2 + 12 2631 c.2179G>A c.(2179-2181)Gat>Aat p.D727N EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 727 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GCAGCTCAACGATGGGCAGTT 0.607000 15 114 0 0 0.520397 0 0 GALNT10 55568 broad.mit.edu 37 5 153765900 153765900 + Silent SNP C C T TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr5:153765900C>T ENST00000297107.6 + 7 1103 c.966C>T c.(964-966)ttC>ttT p.F322F GALNT10_ENST00000377661.2_Silent_p.F260F|GALNT10_ENST00000425427.2_Silent_p.F322F|GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 322 Catalytic subdomain B. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GTGGACTGTTCGCCGTGGATC 0.572000 41 130 0 0 0.870114 0 0 UGT2B11 10720 broad.mit.edu 37 4 70066349 70066349 + Missense_Mutation SNP C C A TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr4:70066349C>A ENST00000446444.1 - 6 1407 c.1399G>T c.(1399-1401)Gtc>Ttc p.V467F RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 467 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TGGGGCATGACAAATTCAATC 0.438000 27 99 2.80507e-11 3.55765e-11 0.760397 1 0 EN2 2020 broad.mit.edu 37 7 155255151 155255151 + Silent SNP G G A TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr7:155255151G>A ENST00000297375.4 + 2 1020 c.771G>A c.(769-771)caG>caA p.Q257Q NM_001427.3 NP_001418.2 P19622 HME2_HUMAN engrailed homeobox 2 257 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(2) 4 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCAGCTGCAGAGGCTCAAGG 0.592000 12 52 0 0 0.457914 0 0 ANKLE1 126549 broad.mit.edu 37 19 17394284 17394284 + Silent SNP T T C TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr19:17394284T>C ENST00000394458.3 + 5 987 c.711T>C c.(709-711)acT>acC p.T237T ANKLE1_ENST00000594072.1_Silent_p.T226T|ANKLE1_ENST00000433424.2_Silent_p.T291T|ANKLE1_ENST00000404085.1_Silent_p.T259T|ANKLE1_ENST00000598347.1_Silent_p.T237T NM_152363.4 NP_689576.4 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 237 nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 CCTCGGACACTCCCCCCTGGG 0.632000 3 64 0 0 0.115264 0 0 VASP 7408 broad.mit.edu 37 19 46020999 46020999 + Silent SNP G G T TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr19:46020999G>T ENST00000245932.6 + 2 440 c.84G>T c.(82-84)acG>acT p.T28T VASP_ENST00000586619.1_3'UTR NM_003370.3 NP_003361.1 P50552 VASP_HUMAN vasodilator-stimulated phosphoprotein 28 WH1. axon guidance|cell junction assembly|T cell receptor signaling pathway actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane actin binding|profilin binding|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2) 18 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154) CTGCTGGCACGGGTCCCCAGG 0.627000 3 72 0.115264 0.119875 0.115264 1 0 ADAM12 8038 broad.mit.edu 37 10 128019054 128019054 + Missense_Mutation SNP C C G TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr10:128019054C>G ENST00000368679.4 - 2 422 c.113G>C c.(112-114)aGa>aCa p.R38T ADAM12_ENST00000368676.4_Missense_Mutation_p.R38T NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 38 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) TTCATCAGCTCTTCCTTGGTT 0.458000 20 89 0 0 0.639603 0 0 COL7A1 1294 broad.mit.edu 37 3 48623134 48623134 + Missense_Mutation SNP G G T TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr3:48623134G>T ENST00000328333.8 - 30 3927 c.3820C>A c.(3820-3822)Cct>Act p.P1274T COL7A1_ENST00000454817.1_Missense_Mutation_p.P1274T NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1274 Interrupted collagenous region.|Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGAGGCCAGGGTCGCCAGGA 0.607000 53 123 3.56336e-21 4.63237e-21 0.870114 1 0 CST1 1469 broad.mit.edu 37 20 23728528 23728528 + Silent SNP C C T TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr20:23728528C>T ENST00000304749.2 - 3 421 c.351G>A c.(349-351)ttG>ttA p.L117L CST1_ENST00000398402.1_Silent_p.L117L NM_001898.2 NP_001889.2 P01037 CYTN_HUMAN cystatin SN 117 extracellular region cysteine-type endopeptidase inhibitor activity p.L117L(1) kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1) 13 Lung NSC(19;0.0676)|all_lung(19;0.148) CGAAAGAGCACAACTGTTTCT 0.527000 3 41 0 0 0.115264 0 0 RERE 473 broad.mit.edu 37 1 8418694 8418694 + Missense_Mutation SNP C C T TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr1:8418694C>T ENST00000337907.3 - 21 4535 c.3901G>A c.(3901-3903)Gag>Aag p.E1301K RERE_ENST00000400908.2_Missense_Mutation_p.E1301K|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.E1033K|RERE_ENST00000476556.1_Missense_Mutation_p.E747K NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 1301 Arg/Glu-rich (mixed charge). 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 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) AGCTCCCGCTCGCGGATGGTG 0.667000 3 29 0 0 0.150653 0 0 PRKAG1 5571 broad.mit.edu 37 12 49399105 49399105 + Missense_Mutation SNP T T C TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr12:49399105T>C ENST00000548065.1 - 5 749 c.293A>G c.(292-294)tAc>tGc p.Y98C RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Y66C|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Y47C|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Y14C|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Y107C|RP11-386G11.5_ENST00000552933.1_RNA P54619 AAKG1_HUMAN protein kinase, AMP-activated, gamma 1 non-catalytic subunit 98 CBS 1. cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis cytosol cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 9 TGATTTATAGTAGCGGTGCAG 0.478000 26 80 0 0 0.769981 0 0 RASSF1 11186 broad.mit.edu 37 3 50369518 50369518 + Missense_Mutation SNP T T C TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr3:50369518T>C ENST00000359365.4 - 3 531 c.425A>G c.(424-426)tAc>tGc p.Y142C RASSF1_ENST00000357043.2_Missense_Mutation_p.Y146C|RASSF1_ENST00000327761.3_Missense_Mutation_p.Y72C|RASSF1_ENST00000395126.3_5'UTR NM_001206957.1|NM_007182.4|NM_170714.1 NP_001193886.1|NP_009113.3|NP_733832.1 Q9NS23 RASF1_HUMAN Ras association (RalGDS/AF-6) domain family member 1 146 cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole identical protein binding|protein binding|protein N-terminus binding|zinc ion binding lung(2)|ovary(1)|skin(1)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CTGGGCATTGTACTCCTTGAT 0.557000 3 103 0 0 0.184627 0 0 GGT3P 0 broad.mit.edu 37 22 18769228 18769228 + RNA SNP G G A rs531659 by1000genomes TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr22:18769228G>A ENST00000412448.1 - 0 1058 TCCCCCTCCCGAAGCACCTTT 0.652000 7 39 0 0 0.457914 0 0 EIF2B3 8891 broad.mit.edu 37 1 45407181 45407182 + Frame_Shift_Ins INS - - T rs148977100 TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr1:45407181_45407182insT ENST00000360403.2 - 4 576_577 c.450_451insA c.(448-453)aacagtfs p.NS150fs EIF2B3_ENST00000480675.1_5'UTR|EIF2B3_ENST00000372183.3_Frame_Shift_Ins_p.NS150fs NM_001261418.1|NM_020365.4 NP_001248347.1|NP_065098.1 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 150 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 17 Acute lymphoblastic leukemia(166;0.155) TCCTTACCTGCTTTTTTTTTCC 0.356 7 109 --- --- --- --- RP11-423H2.1 0 broad.mit.edu 37 5 177309736 177309736 + RNA DEL T T - TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr5:177309736delT ENST00000506672.1 + 0 947 NR_003615.2 TTTATTGACATTGCTGAAGTG 0.453 5 6 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150824 65150825 + RNA INS - - G TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr7:65150824_65150825insG ENST00000430126.2 + 0 757 TCACCCCCCCCCCCGTTAAAAT 0.470 2 4 --- --- --- --- DNHD1 144132 broad.mit.edu 37 11 6578614 6578616 + In_Frame_Del DEL GAG GAG - TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr11:6578614_6578616delGAG ENST00000254579.6 + 25 8653_8655 c.8089_8091delGAG c.(8089-8091)del p.E2703del DNHD1_ENST00000527990.2_In_Frame_Del_p.E2703del NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 2703 Glu-rich. microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TCAGGAGAGTgaggaggaggagg 0.576 2 4 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49437439 49437440 + Frame_Shift_Ins INS - - A TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr12:49437439_49437440insA ENST00000301067.7 - 23 5444_5445 c.5445_5446insT c.(5443-5448)aaaactfs p.KT1815fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GTGGGGAGTTCCTTCCTTTCTG 0.525 OREG0021780 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 45 --- --- --- --- ANKRD11 29123 broad.mit.edu 37 16 89349914 89349916 + In_Frame_Del DEL CTT CTT - TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr16:89349914_89349916delCTT ENST00000301030.4 - 9 3494_3496 c.3034_3036delAAG c.(3034-3036)del p.K1012del ANKRD11_ENST00000378330.2_In_Frame_Del_p.K1012del NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1012 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CGGGGCCATCCTTCTTCTCCTTC 0.512 27 94 --- --- --- --- AFG3L1P 0 broad.mit.edu 37 16 90053815 90053815 + RNA DEL G G - TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr16:90053815delG ENST00000437774.1 + 0 731 NR_003226.1 aggtggaggaggtggaggagg 0.637 3 5 --- --- --- --- PRR12 57479 broad.mit.edu 37 19 50102809 50102809 + Frame_Shift_Del DEL G G - TCGA-HI-7170-01A-11D-2114-08 TCGA-HI-7170-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10812a81-93f3-4eb6-967f-b415d2263f0e 473c4d37-6639-45f0-a67a-8e34049d0b29 g.chr19:50102809delG ENST00000418929.2 + 5 3971 c.3959delG c.(3958-3960)cafs p.R1320fs NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 499 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GTGCCAGCCCGAGGCCTGCAG 0.692 2 4 --- --- --- ---