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 CCR6 1235 broad.mit.edu 37 6 167550390 167550390 + Missense_Mutation SNP T T A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr6:167550390T>A ENST00000341935.5 + 3 1224 c.672T>A c.(670-672)ttT>ttA p.F224L CCR6_ENST00000349984.4_Missense_Mutation_p.F224L|CCR6_ENST00000400926.2_Missense_Mutation_p.F224L NM_031409.3 NP_113597.2 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 224 cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 14 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) TTGGTTTCTTTATCCCTTTGA 0.458000 4 198 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198267533 198267533 + Silent SNP A A C TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr2:198267533A>C ENST00000335508.5 - 14 1915 c.1824T>G c.(1822-1824)acT>acG p.T608T NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 608 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TAGAGATCATAGTAGCCAGAC 0.398000 Mis myelodysplastic syndrome 5 128 0 0 1 0 0 RAB3IP 117177 broad.mit.edu 37 12 70194027 70194027 + Silent SNP G G A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr12:70194027G>A ENST00000550536.1 + 7 1432 c.975G>A c.(973-975)aaG>aaA p.K325K RAB3IP_ENST00000247833.7_Silent_p.K309K|RAB3IP_ENST00000362025.5_Silent_p.K325K|RAB3IP_ENST00000483530.2_Silent_p.K309K|RAB3IP_ENST00000325555.9_Silent_p.K103K|RAB3IP_ENST00000550847.1_Silent_p.K16K|RAB3IP_ENST00000551641.1_Silent_p.K103K|RAB3IP_ENST00000553099.1_Silent_p.K103K NM_001278402.1|NM_175623.2 NP_001265331.1|NP_783322.1 Q96QF0 RAB3I_HUMAN RAB3A interacting protein 325 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) GATTGTGGAAGGATGAGCCCA 0.343000 36 80 0 0 1 0 0 NGEF 25791 broad.mit.edu 37 2 233791769 233791769 + Missense_Mutation SNP G G A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr2:233791769G>A ENST00000264051.3 - 4 789 c.511C>T c.(511-513)Ctc>Ttc p.L171F NGEF_ENST00000409079.1_Missense_Mutation_p.L79F|NGEF_ENST00000373552.4_Missense_Mutation_p.L79F NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 171 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) TGTTCAATGAGGTTTCTCCAG 0.637000 37 66 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 5 113 0 0 1 0 0 SSH1 54434 broad.mit.edu 37 12 109186453 109186453 + Missense_Mutation SNP G G C TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr12:109186453G>C ENST00000326495.5 - 14 1595 c.1502C>G c.(1501-1503)cCc>cGc p.P501R SSH1_ENST00000551165.1_Missense_Mutation_p.P501R|SSH1_ENST00000326470.5_Missense_Mutation_p.P512R|SSH1_ENST00000360239.3_Missense_Mutation_p.P189R NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 501 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CCCTAAGCCGGGCTGGGCGGC 0.642000 5 114 0 0 1 0 0 HIST1H2BI 8346 broad.mit.edu 37 6 26273310 26273310 + Missense_Mutation SNP A A C TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr6:26273310A>C ENST00000377733.2 + 1 167 c.107A>C c.(106-108)gAg>gCg p.E36A NM_003525.2 NP_003516.1 P62807 H2B1C_HUMAN histone cluster 1, H2bi 36 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 AGCCGCAAGGAGAGCTATTCC 0.577000 23 518 0 0 1 0 0 DUSP22 56940 broad.mit.edu 37 6 348207 348207 + Missense_Mutation SNP C C G TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr6:348207C>G ENST00000604971.1 + 3 1172 c.59C>G c.(58-60)tCc>tGc p.S20C DUSP22_ENST00000419235.2_Missense_Mutation_p.S123C|DUSP22_ENST00000605035.1_Missense_Mutation_p.S20C|DUSP22_ENST00000603453.1_Missense_Mutation_p.S20C|DUSP22_ENST00000605315.1_Missense_Mutation_p.S20C|DUSP22_ENST00000605863.1_Missense_Mutation_p.S20C|DUSP22_ENST00000344450.5_Missense_Mutation_p.S123C Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 123 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) GCTGGGAGATCCTGTGCCAAC 0.577000 11 267 0 0 1 0 0 BNIP3 664 broad.mit.edu 37 10 133787409 133787409 + Missense_Mutation SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr10:133787409C>T ENST00000540159.1 - 2 201 c.85G>A c.(85-87)Ggg>Agg p.G29R BNIP3_ENST00000368636.4_Missense_Mutation_p.G29R Q12983 BNIP3_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 3 29 cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm GTPase binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1) 7 all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203) Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) ACGCTGCCCCCGTTCCCATTA 0.507000 12 254 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31326457 31326457 + Silent SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr18:31326457C>T ENST00000269197.5 + 12 6645 c.6645C>T c.(6643-6645)tgC>tgT p.C2215C NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 2215 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AATGCTCTTGCCGGCTGAAAG 0.512000 5 146 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59113311 59113311 + Missense_Mutation SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr14:59113311C>T ENST00000395153.3 + 4 2006 c.1859C>T c.(1858-1860)gCg>gTg p.A620V DACT1_ENST00000556859.1_Missense_Mutation_p.A376V|DACT1_ENST00000541264.2_Missense_Mutation_p.A376V|DACT1_ENST00000335867.4_Missense_Mutation_p.A657V|DACT1_ENST00000395151.3_Missense_Mutation_p.A376V NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 657 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 GGGAGCAGGGCGCATGGCCAC 0.692000 5 18 0 0 1 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45486434 45486434 + Missense_Mutation SNP G G C TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr1:45486434G>C ENST00000359600.5 - 12 2681 c.2476C>G c.(2476-2478)Ctg>Gtg p.L826V NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 826 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) ATTGCTTCCAGAATTGTTCGG 0.433000 11 420 0 0 1 0 0 KCNJ8 3764 broad.mit.edu 37 12 21919155 21919155 + Silent SNP A A T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr12:21919155A>T ENST00000240662.2 - 3 1122 c.777T>A c.(775-777)atT>atA p.I259I RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 259 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) CCACCAGAAAAATGTTATTGC 0.493000 24 68 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113517828 113517828 + Missense_Mutation SNP A A G TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr7:113517828A>G ENST00000284601.3 - 4 3387 c.3319T>C c.(3319-3321)Tgg>Cgg p.W1107R NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 1107 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CAGGATAGCCAGGACAATGAC 0.348000 12 238 0 0 1 0 0 TUBD1 51174 broad.mit.edu 37 17 57937725 57937725 + Missense_Mutation SNP G G T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr17:57937725G>T ENST00000325752.3 - 9 1597 c.1320C>A c.(1318-1320)ttC>ttA p.F440L TUBD1_ENST00000394239.3_Missense_Mutation_p.F383L|TUBD1_ENST00000539018.1_Missense_Mutation_p.F224L|TUBD1_ENST00000376094.4_Missense_Mutation_p.F338L|TUBD1_ENST00000346141.6_Missense_Mutation_p.F186L|TUBD1_ENST00000340993.6_Missense_Mutation_p.F385L|TUBD1_ENST00000592426.1_Missense_Mutation_p.F440L NM_016261.3 NP_057345.2 Q9UJT1 TBD_HUMAN tubulin, delta 1 440 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity p.F440F(1) NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2) 21 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) CTAATGACGTGAAACTGTCTA 0.318000 13 155 1.37285e-15 1.46707e-15 1 1 0 SLK 9748 broad.mit.edu 37 10 105780333 105780333 + Nonsense_Mutation SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr10:105780333C>T ENST00000369755.3 + 17 3954 c.3409C>T c.(3409-3411)Cag>Tag p.Q1137* SLK_ENST00000335753.4_Nonsense_Mutation_p.Q1106* NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 1137 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TCTTCAGTTGCAGTGTGAAGC 0.458000 6 141 0 0 1 0 0 ZFP82 284406 broad.mit.edu 37 19 36884065 36884065 + Missense_Mutation SNP G G T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr19:36884065G>T ENST00000392161.3 - 5 1419 c.1177C>A c.(1177-1179)Cct>Act p.P393T ZFP82_ENST00000392171.1_Missense_Mutation_p.P393T NM_133466.2 NP_597723.1 Q8N141 ZFP82_HUMAN ZFP82 zinc finger protein 393 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CATTCGTAAGGTTTTTCACCA 0.388000 6 169 0.00116845 0.00117926 1 1 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 83 0 0 1 0 0 PCDHA9 0 broad.mit.edu 37 5 140230180 140230180 + Silent SNP G G C TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr5:140230180G>C ENST00000378122.3 + 1 2824 c.2100G>C c.(2098-2100)ctG>ctC p.L700L PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.L700L NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGTGTACCTGATCATCGCCA 0.662000 66 177 0 0 1 0 0 DCN 1634 broad.mit.edu 37 12 91545525 91545525 + Missense_Mutation SNP G G C TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr12:91545525G>C ENST00000052754.5 - 7 1292 c.791C>G c.(790-792)tCt>tGt p.S264C DCN_ENST00000456569.2_Intron|DCN_ENST00000547568.2_Missense_Mutation_p.S117C|DCN_ENST00000552962.1_Missense_Mutation_p.S264C|DCN_ENST00000441303.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.S155C|DCN_ENST00000228329.5_Missense_Mutation_p.S155C|DCN_ENST00000393155.1_Missense_Mutation_p.S264C|DCN_ENST00000425043.1_Missense_Mutation_p.S117C NM_001920.3 NP_001911.1 P07585 PGS2_HUMAN decorin 264 organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 GTTGGCCAGAGAGCCATTGTC 0.478000 31 55 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 71008233 71008233 + Missense_Mutation SNP T T A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr10:71008233T>A ENST00000354624.5 + 10 1452 c.1319T>A c.(1318-1320)gTc>gAc p.V440D HKDC1_ENST00000488706.1_3'UTR|HKDC1_ENST00000395086.2_Missense_Mutation_p.V440D NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 440 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity p.V440fs*51(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 AGCTGTGATGTCCGCTTCCTC 0.597000 11 181 0 0 1 0 0 MCF2L 23263 broad.mit.edu 37 13 113742083 113742083 + Silent SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr13:113742083C>T ENST00000397030.1 + 23 2794 c.2757C>T c.(2755-2757)taC>taT p.Y919Y MCF2L_ENST00000375597.4_Silent_p.Y884Y|MCF2L_ENST00000442652.2_Silent_p.Y916Y|MCF2L_ENST00000434480.2_Silent_p.Y892Y|MCF2L_ENST00000375604.2_Silent_p.Y943Y|MCF2L_ENST00000423482.2_Silent_p.Y884Y|MCF2L_ENST00000375601.3_Silent_p.Y890Y|MCF2L_ENST00000421756.1_Silent_p.Y890Y|MCF2L_ENST00000535094.2_Silent_p.Y886Y|MCF2L_ENST00000375608.3_Silent_p.Y916Y O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 916 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) AGATCTGGTACAACGCGCGCG 0.572000 15 52 0 0 1 0 0 PALD1 27143 broad.mit.edu 37 10 72298051 72298051 + Missense_Mutation SNP G G A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr10:72298051G>A ENST00000263563.6 + 12 1607 c.1339G>A c.(1339-1341)Gcc>Acc p.A447T NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 GCTGGCCTTTGCCCTCAGTTT 0.667000 9 95 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94748551 94748551 + Missense_Mutation SNP C C G TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr8:94748551C>G ENST00000399300.2 - 3 301 c.88G>C c.(88-90)Gat>Cat p.D30H RBM12B_ENST00000517700.1_Missense_Mutation_p.D30H|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 30 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) ACTCCTCCATCAGGAATAGTC 0.463000 11 301 0 0 1 0 0 SEC14L3 266629 broad.mit.edu 37 22 30866506 30866506 + Translation_Start_Site SNP G G A rs116155456 byFrequency TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr22:30866506G>A ENST00000403066.1 - 0 224 SEC14L3_ENST00000415957.2_De_novo_Start_OutOfFrame|SEC14L3_ENST00000402286.1_De_novo_Start_InFrame|SEC14L3_ENST00000401751.1_De_novo_Start_OutOfFrame|SEC14L3_ENST00000215812.4_Missense_Mutation_p.R40C|SEC14L3_ENST00000540910.1_De_novo_Start_InFrame|SEC14L3_ENST00000539629.1_De_novo_Start_OutOfFrame Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) CGGAGCCAGCGTAGAAGGAAA 0.567000 7 96 0 0 1 0 0 NEK9 91754 broad.mit.edu 37 14 75553847 75553847 + Silent SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr14:75553847C>T ENST00000238616.5 - 21 2849 c.2691G>A c.(2689-2691)gtG>gtA p.V897V NM_033116.4 NP_149107.4 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 897 cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00718) TCTCAACCTCCACCTGCAGAG 0.512000 72 170 0 0 1 0 0 FFAR3 2865 broad.mit.edu 37 19 35850510 35850510 + Missense_Mutation SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr19:35850510C>T ENST00000327809.4 + 2 919 c.718C>T c.(718-720)Ccc>Tcc p.P240S FFAR3_ENST00000594310.1_Missense_Mutation_p.P240S NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 240 integral to plasma membrane G-protein coupled receptor activity|lipid binding endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) CTGCTTTGGGCCCTACAACGT 0.642000 5 321 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60688207 60688207 + Missense_Mutation SNP A A G rs147115751 TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr2:60688207A>G ENST00000335712.6 - 4 2067 c.1840T>C c.(1840-1842)Tcg>Ccg p.S614P BCL11A_ENST00000358510.4_Missense_Mutation_p.S580P|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Missense_Mutation_p.S283P|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.S580P|BCL11A_ENST00000356842.4_Missense_Mutation_p.S614P NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 614 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) AGGCCCCCCGAGGCCGACTCG 0.667000 T IGH@ B-CLL 25 42 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72127635 72127635 + Silent SNP A A G TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr8:72127635A>G ENST00000340726.3 - 16 2223 c.1584T>C c.(1582-1584)agT>agC p.S528S EYA1_ENST00000388741.2_Silent_p.S494S|EYA1_ENST00000419131.1_Silent_p.S493S|EYA1_ENST00000388740.3_Silent_p.S495S|EYA1_ENST00000388743.2_Silent_p.S527S|EYA1_ENST00000388742.4_Silent_p.S528S|EYA1_ENST00000303824.7_Silent_p.S522S NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 528 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TTTTAGTTGCACTGTAAATAT 0.338000 15 249 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93797642 93797642 + Silent SNP A A G TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr11:93797642A>G ENST00000315765.9 + 4 782 c.774A>G c.(772-774)aaA>aaG p.K258K NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 258 Plastocyanin-like 2. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TTGACAAGAAAGATGCTGTTT 0.383000 6 81 0 0 1 0 0 ZNF184 7738 broad.mit.edu 37 6 27419434 27419434 + Missense_Mutation SNP G G C rs149207610 TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr6:27419434G>C ENST00000211936.6 - 6 2188 c.1904C>G c.(1903-1905)aCt>aGt p.T635S ZNF184_ENST00000377419.1_Missense_Mutation_p.T635S NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 635 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TTCTGTGTGAGTTTTTTGATG 0.423000 10 236 0 0 1 0 0 ZNF622 90441 broad.mit.edu 37 5 16463248 16463248 + Missense_Mutation SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr5:16463248C>T ENST00000308683.2 - 3 1144 c.1018G>A c.(1018-1020)Gct>Act p.A340T NM_033414.2 NP_219482.1 Q969S3 ZN622_HUMAN zinc finger protein 622 340 cytoplasm|nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 AATTCCAAAGCAGCATCGCCA 0.408000 6 394 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255635 15255635 + Missense_Mutation SNP G G A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr10:15255635G>A ENST00000378116.4 - 8 1958 c.1952C>T c.(1951-1953)gCg>gTg p.A651V NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 651 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 CCGGGTGCCCGCATCCTGCAG 0.622000 4 168 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109368336 109368336 + Silent SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr2:109368336C>T ENST00000283195.6 + 12 1767 c.1641C>T c.(1639-1641)aaC>aaT p.N547N NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 547 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GACCTGGAAACGTAGCAAAAT 0.358000 165 305 0 0 1 0 0 CCRN4L 25819 broad.mit.edu 37 4 139966532 139966532 + Silent SNP T T A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr4:139966532T>A ENST00000280614.2 + 3 1393 c.1200T>A c.(1198-1200)atT>atA p.I400I ELF2_ENST00000515489.1_Intron NM_012118.2 NP_036250.2 Q9UK39 NOCT_HUMAN CCR4 carbon catabolite repression 4-like (S. cerevisiae) 400 rhythmic process|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity kidney(2)|large_intestine(3)|lung(3)|ovary(1) 9 all_hematologic(180;0.162) AAGAACAGATTGGACCCAACA 0.453000 4 216 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31770237 31770237 + Silent SNP A A G TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr19:31770237A>G ENST00000240587.4 - 2 789 c.462T>C c.(460-462)agT>agC p.S154S NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 154 Ser-rich. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) tgctgctgctactgctgctgc 0.607000 3 42 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 60 108 0 0 1 0 0 EVA1B 55194 broad.mit.edu 37 1 36788037 36788037 + Silent SNP C C A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr1:36788037C>A ENST00000270824.1 - 3 648 c.357G>T c.(355-357)ctG>ctT p.L119L EVA1B_ENST00000490466.1_5'UTR|SH3D21_ENST00000474766.1_3'UTR NM_018166.1 NP_060636.1 eva-1 homolog B (C. elegans) GCGCCCGCTCCAGCTCCTCCG 0.741000 3 59 1 1 1 1 0 CUL5 8065 broad.mit.edu 37 11 107944162 107944162 + Missense_Mutation SNP T T C TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr11:107944162T>C ENST00000393094.2 + 10 1667 c.1051T>C c.(1051-1053)Ttt>Ctt p.F351L CUL5_ENST00000531843.1_3'UTR NM_003478.3 NP_003469.2 Q93034 CUL5_HUMAN cullin 5 351 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) ATTTAATAGATTTAGTAAACT 0.269000 16 153 0 0 1 0 0 CWC22 57703 broad.mit.edu 37 2 180810420 180810420 + Silent SNP T T C TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr2:180810420T>C ENST00000410053.3 - 20 2462 c.2163A>G c.(2161-2163)ggA>ggG p.G721G CWC22_ENST00000295749.6_Silent_p.G721G NM_020943.2 NP_065994.1 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog (S. cerevisiae) 721 catalytic step 2 spliceosome protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1) 30 TCTTCCCATGTCCCTTCTTTC 0.333000 3 59 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 42064859 42064859 + Missense_Mutation SNP G G A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr21:42064859G>A ENST00000400454.1 - 3 862 c.385C>T c.(385-387)Cgt>Tgt p.R129C NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 129 Ig-like C2-type 1.|Ig-like C2-type 2. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TCCTCCACACGGACTGTATAG 0.498000 14 130 0 0 1 0 0 SUB1 10923 broad.mit.edu 37 5 32601155 32601155 + Missense_Mutation SNP A A G TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr5:32601155A>G ENST00000265073.4 + 5 477 c.349A>G c.(349-351)Att>Gtt p.I117V SUB1_ENST00000504789.1_3'UTR|SUB1_ENST00000512913.1_Missense_Mutation_p.I117V|SUB1_ENST00000515355.1_Missense_Mutation_p.I117V|SUB1_ENST00000502897.1_Missense_Mutation_p.I117V NM_006713.3 NP_006704.3 P53999 TCP4_HUMAN SUB1 homolog (S. cerevisiae) 117 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleolus|transcription factor complex protein binding|single-stranded DNA binding|transcription coactivator activity endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 GAAGGAACAGATTTCTGACAT 0.313000 10 168 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168311815 168311815 + Missense_Mutation SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr6:168311815C>T ENST00000366806.2 + 14 1946 c.1804C>T c.(1804-1806)Cct>Tct p.P602S MLLT4_ENST00000351017.4_Missense_Mutation_p.P602S|MLLT4_ENST00000447894.2_Missense_Mutation_p.P602S|MLLT4_ENST00000344191.4_Missense_Mutation_p.P602S|MLLT4_ENST00000400822.3_Missense_Mutation_p.P601S|MLLT4_ENST00000392108.3_Missense_Mutation_p.P602S|MLLT4_ENST00000392112.1_Missense_Mutation_p.P586S P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 602 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) GCTGATACTACCTGCAAGCAT 0.368000 T MLL AL 36 131 0 0 1 0 0 CXorf40A 91966 broad.mit.edu 37 X 148627360 148627360 + Missense_Mutation SNP G G A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chrX:148627360G>A ENST00000441248.1 + 3 1771 c.184G>A c.(184-186)Ggg>Agg p.G62R CXorf40A_ENST00000450602.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000514208.1_Missense_Mutation_p.G62R|CXorf40A_ENST00000428236.1_5'UTR|CXorf40A_ENST00000423421.1_Missense_Mutation_p.G62R|CXorf40A_ENST00000422892.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000423540.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000393985.3_Missense_Mutation_p.G62R|CXorf40A_ENST00000434353.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000359293.5_Missense_Mutation_p.G62R Q8TE69 CX04A_HUMAN chromosome X open reading frame 40A 62 protein binding breast(1)|endometrium(3)|large_intestine(1)|lung(2) 7 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GGAGAGACTCGGGATGACTCC 0.567000 49 19 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50701717 50701717 + Silent SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr20:50701717C>T ENST00000361387.2 - 9 1377 c.1317G>A c.(1315-1317)gaG>gaA p.E439E ZFP64_ENST00000371523.4_Silent_p.E220E|ZFP64_ENST00000371518.2_Intron NM_199427.2 NP_955459.2 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 396 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 TGAAAGGCTTCTCCCCCGAGT 0.532000 9 76 0 0 1 0 0 TMEM174 134288 broad.mit.edu 37 5 72469122 72469122 + Missense_Mutation SNP G G A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr5:72469122G>A ENST00000296776.5 + 1 101 c.52G>A c.(52-54)Gtc>Atc p.V18I TMEM174_ENST00000511737.1_3'UTR NM_153217.2 NP_694949.1 Q8WUU8 TM174_HUMAN transmembrane protein 174 18 integral to membrane endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.46e-54) TGTGTTCTCCGTCACTCCTTA 0.582000 6 383 0 0 1 0 0 RQCD1 9125 broad.mit.edu 37 2 219449427 219449427 + Missense_Mutation SNP C C G TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr2:219449427C>G ENST00000273064.6 + 4 788 c.413C>G c.(412-414)aCc>aGc p.T138S RQCD1_ENST00000295701.5_Missense_Mutation_p.T138S|RQCD1_ENST00000542068.1_Missense_Mutation_p.T138S|RQCD1_ENST00000509807.2_Missense_Mutation_p.T138S NM_005444.2 NP_005435.1 Q92600 RCD1_HUMAN RCD1 required for cell differentiation1 homolog (S. pombe) 138 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1) 15 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTCCGGCTCACCAGCCTTGGA 0.438000 5 314 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1046233 1046233 + Missense_Mutation SNP T T G TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr19:1046233T>G ENST00000263094.6 + 13 1681 c.1450T>G c.(1450-1452)Tgg>Ggg p.W484G ABCA7_ENST00000435683.2_Missense_Mutation_p.W346G|ABCA7_ENST00000433129.1_Missense_Mutation_p.W484G|ABCA7_ENST00000533574.1_3'UTR NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 484 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCGCAGGTTTTGGGACCCTGG 0.642000 4 340 0 0 1 0 0 NNT 23530 broad.mit.edu 37 5 43659378 43659378 + Missense_Mutation SNP A A T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr5:43659378A>T ENST00000264663.5 + 17 2781 c.2560A>T c.(2560-2562)Aac>Tac p.N854Y NNT_ENST00000512996.2_Missense_Mutation_p.N723Y|NNT_ENST00000344920.4_Missense_Mutation_p.N854Y NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 854 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) CTTCCTGCTCAACAACAATCT 0.512000 49 92 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113241120 113241120 + Splice_Site SNP C C G TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr8:113241120C>G ENST00000297405.5 - 70 11073 c.10828_splice c.e70-1 p.G3610_splice CSMD3_ENST00000352409.3_Splice_Site_p.G3540_splice|CSMD3_ENST00000343508.3_Splice_Site_p.G3570_splice|CSMD3_ENST00000455883.2_Splice_Site_p.G3441_splice NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3610 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CATATTCAGTCCTACaaaata 0.279000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 97 0 0 1 0 0 CD74 972 broad.mit.edu 37 5 149792211 149792211 + Silent SNP G G A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr5:149792211G>A ENST00000353334.6 - 1 281 c.102C>T c.(100-102)ggC>ggT p.G34G CD74_ENST00000377795.3_Silent_p.G34G|CD74_ENST00000009530.7_Silent_p.G34G|CD74_ENST00000524315.1_Silent_p.G34G NM_001025159.2|NM_004355.3 NP_001020330.1|NP_004346.1 P04233 HG2A_HUMAN CD74 molecule, major histocompatibility complex, class II invariant chain 34 antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGGGCGCCGGCCCAGCATGG 0.617000 T ROS1 NSCLC 7 280 0 0 1 0 0 DUSP22 56940 broad.mit.edu 37 6 348220 348220 + Silent SNP C C G TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr6:348220C>G ENST00000604971.1 + 3 1185 c.72C>G c.(70-72)ccC>ccG p.P24P DUSP22_ENST00000419235.2_Silent_p.P127P|DUSP22_ENST00000605035.1_Silent_p.P24P|DUSP22_ENST00000603453.1_Silent_p.P24P|DUSP22_ENST00000605315.1_Silent_p.P24P|DUSP22_ENST00000605863.1_Silent_p.P24P|DUSP22_ENST00000344450.5_Silent_p.P127P Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 127 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) GTGCCAACCCCAACGTGGGCT 0.577000 7 235 0 0 1 0 0 INTS4 92105 broad.mit.edu 37 11 77649841 77649841 + Missense_Mutation SNP C C G TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr11:77649841C>G ENST00000534064.1 - 10 1055 c.1021G>C c.(1021-1023)Gaa>Caa p.E341Q INTS4_ENST00000529807.1_Missense_Mutation_p.E341Q NM_033547.3 NP_291025.3 Q96HW7 INT4_HUMAN integrator complex subunit 4 341 snRNA processing integrator complex protein binding INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) CTGTAAAGTTCCTTGGCACGC 0.483000 11 321 0 0 1 0 0 ME1 4199 broad.mit.edu 37 6 84025055 84025055 + Silent SNP G G A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr6:84025055G>A ENST00000369705.3 - 6 794 c.678C>T c.(676-678)gaC>gaT p.D226D ME1_ENST00000543031.1_Silent_p.D151D|ME1_ENST00000541327.1_Silent_p.D60D NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 226 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding p.D226D(1) NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) CCATGAATTCGTCCAAAAAAT 0.303000 14 178 0 0 1 0 0 FOXI1 2299 broad.mit.edu 37 5 169533255 169533255 + Silent SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr5:169533255C>T ENST00000449804.2 + 1 339 c.294C>T c.(292-294)agC>agT p.S98S FOXI1_ENST00000306268.6_Silent_p.S98S NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 98 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGCTGCCCAGCGTGTCGGGGC 0.697000 Pendred syndrome 5 9 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67101613 67101613 + Missense_Mutation SNP G G C TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr17:67101613G>C ENST00000284425.2 - 20 2904 c.2730C>G c.(2728-2730)atC>atG p.I910M NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 910 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) CTGTGTTATTGATGATCAACA 0.363000 5 92 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 34 19 0 0 1 0 0 CTDP1 9150 broad.mit.edu 37 18 77464812 77464812 + Missense_Mutation SNP A A G TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr18:77464812A>G ENST00000299543.7 + 5 814 c.667A>G c.(667-669)Acg>Gcg p.T223A CTDP1_ENST00000075430.7_Missense_Mutation_p.T223A NM_001202504.1|NM_004715.4 NP_001189433.1|NP_004706.3 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 223 FCP1 homology. positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) CATGCTGCACACGCGCCTGCG 0.602000 12 160 0 0 1 0 0 ZNF846 162993 broad.mit.edu 37 19 9874046 9874046 + Silent SNP G G A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr19:9874046G>A ENST00000397902.2 - 3 467 c.54C>T c.(52-54)acC>acT p.T18T ZNF846_ENST00000588267.1_5'UTR|ZNF846_ENST00000586293.1_Silent_p.T18T|ZNF846_ENST00000592859.1_Intron NM_001077624.1 NP_001071092.1 Q147U1 ZN846_HUMAN zinc finger protein 846 18 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 ACTCCTCCTGGGTAAAGTCCA 0.423000 58 206 0 0 1 0 0 CCDC6 8030 broad.mit.edu 37 10 61564269 61564269 + Missense_Mutation SNP A A C TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr10:61564269A>C ENST00000263102.6 - 7 1245 c.1014T>G c.(1012-1014)aaT>aaG p.N338K NM_005436.4 NP_005427.2 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 338 cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton CCDC6/RET(4) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1) 18 Kidney(211;0.0597) CAGACATCTCATTAAAATACC 0.448000 T RET NSCLC 34 59 0 0 1 0 0 CD1A 909 broad.mit.edu 37 1 158226059 158226059 + Silent SNP T T C TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr1:158226059T>C ENST00000289429.5 + 3 1124 c.591T>C c.(589-591)caT>caC p.H197H NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 197 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) GAAAGGCACATCTCCAGCGGC 0.453000 6 168 0 0 1 0 0 TEKT1 83659 broad.mit.edu 37 17 6716181 6716181 + Missense_Mutation SNP G G A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr17:6716181G>A ENST00000338694.2 - 6 950 c.821C>T c.(820-822)gCc>gTc p.A274V TEKT1_ENST00000535086.1_Missense_Mutation_p.A128V NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 274 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) CTTGTCCCTGGCATCCTTTGT 0.522000 5 248 0 0 1 0 0 DDA1 79016 broad.mit.edu 37 19 17424890 17424890 + Missense_Mutation SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr19:17424890C>T ENST00000359866.4 + 2 186 c.62C>T c.(61-63)gCg>gTg p.A21V NM_024050.5 NP_076955.1 Q9BW61 DDA1_HUMAN DET1 and DDB1 associated 1 21 kidney(1)|large_intestine(1)|lung(1)|ovary(1) 4 CGATTTCACGCGGACTCCGTG 0.527000 10 269 0 0 1 0 0 GNPNAT1 0 broad.mit.edu 37 14 53248533 53248533 + Missense_Mutation SNP A A G TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr14:53248533A>G ENST00000216410.3 - 4 501 c.314T>C c.(313-315)aTa>aCa p.I105T GNPNAT1_ENST00000554230.1_Missense_Mutation_p.I34T NM_198066.3 NP_932332.1 Q96EK6 GNA1_HUMAN glucosamine-phosphate N-acetyltransferase 1 105 N-acetyltransferase. dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|endosome membrane|Golgi membrane glucosamine 6-phosphate N-acetyltransferase activity liver(1)|lung(1)|prostate(1)|skin(1) 4 Breast(41;0.176) TTTATGTTCTATAATCAGAGT 0.363000 18 249 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158870156 158870156 + Silent SNP G G T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr6:158870156G>T ENST00000367097.3 + 4 2029 c.672G>T c.(670-672)gtG>gtT p.V224V TULP4_ENST00000367094.2_Silent_p.V224V NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 224 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) TCTTCCTGGTGGAGGACAGCA 0.567000 23 117 7.87624e-14 8.33505e-14 1 1 0 AK9 221264 broad.mit.edu 37 6 109854627 109854627 + Missense_Mutation SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr6:109854627C>T ENST00000424296.2 - 28 3473 c.3397G>A c.(3397-3399)Gcc>Acc p.A1133T AK9_ENST00000355283.1_Missense_Mutation_p.A212T|AK9_ENST00000341338.6_Missense_Mutation_p.A212T NM_001145128.2 NP_001138600.2 adenylate kinase 9 AAAAACTGGGCCTCTTCTGGA 0.363000 7 145 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94748587 94748587 + Missense_Mutation SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr8:94748587C>T ENST00000399300.2 - 3 265 c.52G>A c.(52-54)Gat>Aat p.D18N RBM12B_ENST00000517700.1_Missense_Mutation_p.D18N|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 18 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) TGACGAATATCCACAGGCCCC 0.448000 7 245 0 0 1 0 0 RDH5 5959 broad.mit.edu 37 12 56118162 56118162 + Missense_Mutation SNP G G A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr12:56118162G>A ENST00000257895.5 + 5 942 c.790G>A c.(790-792)Gtg>Atg p.V264M RDH5_ENST00000547072.1_Missense_Mutation_p.V167M|RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000548082.1_Missense_Mutation_p.V264M NM_001199771.1|NM_002905.3 NP_001186700.1|NP_002896.2 Q92781 RDH1_HUMAN retinol dehydrogenase 5 (11-cis/9-cis) 264 response to stimulus|visual perception membrane binding|retinol dehydrogenase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1) 12 NADH(DB00157)|Vitamin A(DB00162) CCTAACCAAGGTGAGCCGATG 0.587000 OREG0021908 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 124 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11795206 11795206 + Missense_Mutation SNP C C A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr17:11795206C>A ENST00000262442.3 + 58 11293 c.11225C>A c.(11224-11226)aCc>aAc p.T3742N DNAH9_ENST00000396001.2_Missense_Mutation_p.T54N|DNAH9_ENST00000454412.2_Missense_Mutation_p.T3742N NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3742 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) TACCAGTACACCATCCGCGGG 0.502000 5 334 0.000602214 0.000619258 1 1 0 EVC 2121 broad.mit.edu 37 4 5798788 5798788 + Silent SNP G G A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr4:5798788G>A ENST00000382674.2 + 14 2110 c.1926G>A c.(1924-1926)ttG>ttA p.L642L EVC_ENST00000515113.1_3'UTR|EVC_ENST00000264956.6_Silent_p.L642L P57679 EVC_HUMAN Ellis van Creveld syndrome 642 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) ACCTGCTGTTGCGCTCAGCCC 0.647000 8 68 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16437000 16437000 + Missense_Mutation SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr9:16437000C>T ENST00000380672.4 - 6 1249 c.1192G>A c.(1192-1194)Gag>Aag p.E398K BNC2_ENST00000380666.2_Missense_Mutation_p.E398K|BNC2_ENST00000545497.1_Missense_Mutation_p.E303K|BNC2_ENST00000380667.2_Missense_Mutation_p.E331K NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 398 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) CAGGCTGGCTCGGTTTTGGGC 0.468000 40 62 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126753365 126753365 + Missense_Mutation SNP C C A rs141706024 TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr5:126753365C>A ENST00000274473.6 + 11 1433 c.1166C>A c.(1165-1167)cCg>cAg p.P389Q MEGF10_ENST00000503335.2_Missense_Mutation_p.P389Q|MEGF10_ENST00000418761.2_Missense_Mutation_p.P389Q|MEGF10_ENST00000508365.1_Missense_Mutation_p.P389Q NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 389 Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) GCCTGCAAGCCGGGCTGGTCA 0.517000 13 312 1.02788e-11 1.0773e-11 1 1 0 KCNMA1 3778 broad.mit.edu 37 10 78649254 78649254 + Missense_Mutation SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr10:78649254C>T ENST00000286627.5 - 26 4194 c.3242G>A c.(3241-3243)cGg>cAg p.R1081Q RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1081Q|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1143Q|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1108Q|KCNMA1_ENST00000286628.8_Missense_Mutation_p.R1139Q|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R1122Q|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1139Q|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1142Q NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 1139 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) ATCTCTCAGCCGGTAAATTCC 0.438000 8 168 0 0 1 0 0 METTL3 56339 broad.mit.edu 37 14 21971545 21971545 + Missense_Mutation SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr14:21971545C>T ENST00000298717.4 - 3 645 c.494G>A c.(493-495)gGc>gAc p.G165D METTL3_ENST00000538267.1_Intron NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 165 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) CTCCCCAGGGCCCTTCTTTTC 0.542000 39 107 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129289944 129289944 + Missense_Mutation SNP G G A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr3:129289944G>A ENST00000393239.1 - 18 3717 c.3539C>T c.(3538-3540)aCg>aTg p.T1180M PLXND1_ENST00000324093.4_Missense_Mutation_p.T1180M Q9Y4D7 PLXD1_HUMAN plexin D1 1180 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 CCTCTTGGCCGTAGAGAACTG 0.657000 5 399 0 0 1 0 0 GTF2H3 2967 broad.mit.edu 37 12 124132661 124132661 + Silent SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr12:124132661C>T ENST00000543341.2 + 4 383 c.352C>T c.(352-354)Cta>Tta p.L118L GTF2H3_ENST00000228955.7_Silent_p.L77L NM_001271867.1|NM_001516.3 NP_001258796.1|NP_001507.2 Q13889 TF2H3_HUMAN general transcription factor IIH, polypeptide 3, 34kDa 118 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction core TFIIH complex|holo TFIIH complex damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362) GATTAAAGATCTAATGACCAA 0.343000 Nucleotide excision repair (NER) 40 73 0 0 1 0 0 IARS 3376 broad.mit.edu 37 9 95033878 95033878 + Silent SNP G G A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr9:95033878G>A ENST00000375643.3 - 11 1316 c.1050C>T c.(1048-1050)tgC>tgT p.C350C IARS_ENST00000443024.2_Silent_p.C350C|IARS_ENST00000447699.2_Silent_p.C240C|IARS_ENST00000375629.3_5'UTR NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 350 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) CATCCACAGGGCAAACAGGGA 0.448000 4 187 0 0 1 0 0 RBM26 64062 broad.mit.edu 37 13 79940828 79940828 + Missense_Mutation SNP T T C TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr13:79940828T>C ENST00000438737.2 - 7 1515 c.1075A>G c.(1075-1077)Aat>Gat p.N359D RBM26_ENST00000267229.7_Missense_Mutation_p.N359D|RBM26_ENST00000461008.1_5'UTR|RBM26_ENST00000438724.1_Missense_Mutation_p.N359D Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 359 Pro-rich. mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GGCCTGAGATTCACAGGTGGG 0.542000 4 141 0 0 1 0 0 XCL2 6846 broad.mit.edu 37 1 168510202 168510202 + Silent SNP G G A rs149372418 byFrequency TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr1:168510202G>A ENST00000367819.2 - 3 365 c.333C>T c.(331-333)acC>acT p.T111T NM_003175.3 NP_003166.1 Q9UBD3 XCL2_HUMAN chemokine (C motif) ligand 2 111 blood circulation|chemotaxis|immune response|signal transduction extracellular space chemokine activity p.T111T(1) large_intestine(1)|lung(6)|ovary(1) 8 all_hematologic(923;0.215) AGCCAGTCAGGGTCACAGCTG 0.498000 4 80 0 0 1 0 0 LCN2 3934 broad.mit.edu 37 9 130912582 130912582 + Silent SNP G G A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr9:130912582G>A ENST00000540948.1 + 2 277 c.204G>A c.(202-204)ccG>ccA p.P68P LCN2_ENST00000373013.2_Silent_p.P68P|LCN2_ENST00000372998.1_Silent_p.P68P|LCN2_ENST00000470902.1_Intron|LCN2_ENST00000277480.2_Silent_p.P68P|LCN2_ENST00000373017.1_Silent_p.P68P P80188 NGAL_HUMAN lipocalin 2 68 apoptosis|innate immune response|regulation of apoptosis|siderophore transport iron ion binding|transporter activity central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 8 ACAAAGACCCGCAAAAGATGT 0.512000 4 181 0 0 1 0 0 STXBP4 252983 broad.mit.edu 37 17 53218683 53218683 + Missense_Mutation SNP G G A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr17:53218683G>A ENST00000376352.2 + 17 1709 c.1502G>A c.(1501-1503)gGg>gAg p.G501E STXBP4_ENST00000434978.2_Missense_Mutation_p.G479E NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 501 WW. cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 TTACCTTATGGGTGGGAGGAA 0.363000 9 154 0 0 1 0 0 ABCB7 22 broad.mit.edu 37 X 74282268 74282268 + Splice_Site SNP T T C TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chrX:74282268T>C ENST00000253577.3 - 14 1859 c.e14-2 ABCB7_ENST00000373394.3_Splice_Site|ABCB7_ENST00000339447.4_Splice_Site NM_001271696.1|NM_004299.3 NP_001258625.1|NP_004290.2 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 7 cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1) 20 TTTCTCCTCCTGGTAAAGGAA 0.363000 4 59 0 0 1 0 0 CWC22 57703 broad.mit.edu 37 2 180810352 180810352 + Missense_Mutation SNP T T G TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr2:180810352T>G ENST00000410053.3 - 20 2530 c.2231A>C c.(2230-2232)cAa>cCa p.Q744P CWC22_ENST00000295749.6_Missense_Mutation_p.Q744P NM_020943.2 NP_065994.1 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog (S. cerevisiae) 744 catalytic step 2 spliceosome protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1) 30 TCTTTCTTTTTGTTTCCTATC 0.393000 7 117 0 0 1 0 0 C17orf78 284099 broad.mit.edu 37 17 35733066 35733066 + Missense_Mutation SNP T T C TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr17:35733066T>C ENST00000300618.4 + 1 82 c.32T>C c.(31-33)aTt>aCt p.I11T ACACA_ENST00000353139.5_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.I11T|ACACA_ENST00000416895.1_Intron NM_173625.3 NP_775896.3 Q8N4C9 CQ078_HUMAN chromosome 17 open reading frame 78 11 integral to membrane NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1) 6 Breast(25;0.00295)|Ovarian(249;0.15) AGCCTAATCATTGCATCCTAT 0.463000 31 82 0 0 1 0 0 CXorf40B 541578 broad.mit.edu 37 X 149101909 149101909 + Missense_Mutation SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chrX:149101909C>T ENST00000370406.3 - 4 1012 c.184G>A c.(184-186)Ggg>Agg p.G62R CXorf40B_ENST00000355203.2_Missense_Mutation_p.G62R|CXorf40B_ENST00000462691.1_Missense_Mutation_p.G62R|CXorf40B_ENST00000370404.1_Missense_Mutation_p.G62R Q96DE9 CX04B_HUMAN chromosome X open reading frame 40B 62 endometrium(1)|lung(4) 5 Acute lymphoblastic leukemia(192;6.56e-05) GGAGTCATCCCGAGTCTCTCC 0.562000 45 218 0 0 1 0 0 PLAC1L 0 broad.mit.edu 37 11 59807955 59807955 + Missense_Mutation SNP T T C TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr11:59807955T>C ENST00000278855.2 + 1 208 c.23T>C c.(22-24)cTc>cCc p.L8P NM_173801.3 NP_776162.2 Q86WS3 PLACL_HUMAN 8 extracellular region breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1) 15 GTCTTGATGCTCCTCGCTGTC 0.458000 98 206 0 0 1 0 0 PPARG 5468 broad.mit.edu 37 3 12475550 12475550 + Missense_Mutation SNP C C T TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr3:12475550C>T ENST00000397026.2 + 9 1741 c.1358C>T c.(1357-1359)aCg>aTg p.T453M PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000309576.6_Missense_Mutation_p.T447M|PPARG_ENST00000287820.6_Missense_Mutation_p.T475M|PPARG_ENST00000397012.2_Missense_Mutation_p.T447M|PPARG_ENST00000397010.2_Missense_Mutation_p.T447M|PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000397015.2_Missense_Mutation_p.T447M P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 475 Ligand-binding. activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) CAGATTGTCACGGAACACGTG 0.527000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 30 164 0 0 1 0 0 KMO 8564 broad.mit.edu 37 1 241753558 241753558 + Frame_Shift_Del DEL A A - TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr1:241753558delA ENST00000366559.4 + 14 1564 c.1253delA c.(1252-1254)cafs p.Q418fs KMO_ENST00000366557.4_Frame_Shift_Del_p.Q384fs|KMO_ENST00000366558.3_Frame_Shift_Del_p.Q405fs NM_003679.4 NP_003670.2 O15229 KMO_HUMAN kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) 418 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) TGGCATTGGCAAAAAAAGGTT 0.313 7 213 --- --- --- --- MARS2 92935 broad.mit.edu 37 2 198571649 198571650 + Frame_Shift_Ins INS - - A TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr2:198571649_198571650insA ENST00000282276.6 + 1 1563_1564 c.1520_1521insA c.(1519-1521)gacfs p.D507fs AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 507 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) CCCTGGCTGGGTACTGTGCTTC 0.569 15 277 --- --- --- --- RASSF1 11186 broad.mit.edu 37 3 50378177 50378177 + Frame_Shift_Del DEL C C - TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr3:50378177delC ENST00000359365.4 - 1 166 c.60delG c.(58-60)ggfs p.G20fs RASSF1_ENST00000357043.2_Frame_Shift_Del_p.G20fs|RASSF1_ENST00000488024.1_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 20 Mediates interaction with E4F1. 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) TGCGGCCCTTCCCAGCGCGCC 0.741 2 4 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1389462 1389463 + Frame_Shift_Del DEL CG CG - TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr4:1389462_1389463delCG ENST00000324803.4 + 1 4123_4124 c.1163_1164delCG c.(1162-1164)afs p.T388fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 388 Interaction with PAK1. ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) TGCTCACACACGTGCCCATGTG 0.624 7 338 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32523104 32523104 + RNA DEL T T - rs139174913 TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr6:32523104delT ENST00000411500.1 - 0 458 NR_001298.1 cctggaagagttttttgattc 0.343 2 4 --- --- --- --- NOX4 50507 broad.mit.edu 37 11 89106662 89106663 + Splice_Site INS - - A rs56022003 TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr11:89106662_89106663insA ENST00000535633.1 - 12 1313 c.e12-2 NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity p.?(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGTTGGACACTAAAAAAAAATA 0.292 8 384 --- --- --- --- RP11-439I14.2 0 broad.mit.edu 37 16 64770704 64770705 + RNA INS - - CCAGTGATGGTCACCT rs140029302 by1000genomes TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr16:64770704_64770705insCCAGTGATGGTCACCT ENST00000564293.1 + 0 453_454 TGTCACCACTGCCACCTTGTTC 0.371 5 1 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21186296 21186297 + RNA INS - - A rs113583877 TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chr20:21186296_21186297insA ENST00000591761.1 - 0 231 RP4-777D9.2_ENST00000433213.2_RNA|RP4-777D9.2_ENST00000443753.1_RNA|PLK1S1_ENST00000457464.1_RNA aatttttatttaaaaaaaaaaa 0.426 3 2 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76937867 76937876 + Frame_Shift_Del DEL AGCCATCCTG AGCCATCCTG - TCGA-TQ-A7RW-01A-11D-A33T-08 TCGA-TQ-A7RW-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b35b017-e463-4ffc-9ccb-97ff23804209 56a37791-5862-47cb-b9b2-0d0c662ec2c9 g.chrX:76937867_76937876delAGCCATCCTG ENST00000373344.5 - 9 3086_3095 c.2872_2881delCAGGATGGCT c.(2872-2883)tafs p.QDGL958fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.QDGL920fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 958 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ATATCAGATAAGCCATCCTGTACTTTTTTA 0.348 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 10 492 --- --- --- ---