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 PTGFRN 5738 broad.mit.edu 37 1 117491865 117491865 + Missense_Mutation SNP T T A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:117491865T>A ENST00000393203.2 + 4 1031 c.884T>A c.(883-885)cTg>cAg p.L295Q NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 295 Ig-like C2-type 3. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) GGAAAGGAACTGGACCTGACC 0.512000 27 98 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150946025 150946025 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:150946025C>A ENST00000261800.5 - 1 2480 c.2468G>T c.(2467-2469)gGt>gTt p.G823V NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 823 Cadherin 7. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGGTACCCACCGGGAGGAAA 0.517000 25 54 3.6726e-16 4.03306e-16 1 1 0 NCKAP5L 57701 broad.mit.edu 37 12 50191117 50191117 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:50191117C>A ENST00000335999.6 - 8 727 c.526G>T c.(526-528)Gcg>Tcg p.A176S NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 172 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 GCATCCAGCGCTGGGGGTGGG 0.632000 19 12 5.35267e-07 5.59812e-07 1 1 0 SNRNP40 9410 broad.mit.edu 37 1 31762157 31762157 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:31762157G>T ENST00000263694.4 - 4 493 c.475C>A c.(475-477)Cca>Aca p.P159T SNRNP40_ENST00000446633.2_Missense_Mutation_p.P159T NM_004814.2 NP_004805.2 Q96DI7 SNR40_HUMAN small nuclear ribonucleoprotein 40kDa (U5) 159 catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP protein binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 7 CTCCTGGCTGGATAACAGGAA 0.493000 87 86 3.49902e-48 4.01338e-48 1 1 0 SLC35F1 222553 broad.mit.edu 37 6 118475710 118475710 + Silent SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:118475710A>G ENST00000360388.4 + 2 477 c.276A>G c.(274-276)acA>acG p.T92T NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 92 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) ACGCCAACACACCAGTCTTCC 0.448000 85 83 0 0 1 0 0 RNF169 254225 broad.mit.edu 37 11 74546755 74546755 + Silent SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:74546755T>C ENST00000299563.4 + 6 1120 c.1107T>C c.(1105-1107)ccT>ccC p.P369P NM_001098638.1 NP_001092108.1 Q8NCN4 RN169_HUMAN ring finger protein 169 369 zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1) 15 CTGTCAGCCCTGAGAGCAATG 0.532000 10 114 0 0 1 0 0 FAM76B 143684 broad.mit.edu 37 11 95516321 95516321 + Silent SNP A A T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:95516321A>T ENST00000358780.5 - 5 783 c.471T>A c.(469-471)tcT>tcA p.S157S FAM76B_ENST00000536839.1_Silent_p.S157S NM_144664.4 NP_653265.3 Q5HYJ3 FA76B_HUMAN family with sequence similarity 76, member B 157 Poly-Ser. breast(1)|kidney(1)|lung(1) 3 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GAGATGAAGAAGATGAATTTG 0.403000 18 24 0 0 1 0 0 ZNF587 84914 broad.mit.edu 37 19 58361439 58361439 + Splice_Site SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:58361439G>A ENST00000339656.5 + 1 215 c.33G>A c.(31-33)caG>caA p.Q11Q CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587_ENST00000423137.1_Splice_Site_p.Q11Q|ZNF587B_ENST00000316462.4_Intron|ZNF814_ENST00000597652.1_5'UTR NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) GCCCAACTCAGGTAATTGTGG 0.667000 15 58 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107576709 107576709 + Splice_Site SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr9:107576709T>C ENST00000374736.3 - 26 4180 c.3786A>G c.(3784-3786)tcA>tcG p.S1262S NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1262 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GGCAGTTACCTGAGGTCTCAG 0.453000 14 48 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38560804 38560804 + Silent SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr21:38560804A>G ENST00000399017.2 + 39 7679 c.4932A>G c.(4930-4932)gtA>gtG p.V1644V TTC3_ENST00000355666.1_Silent_p.V1644V|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Silent_p.V1644V|TTC3-AS1_ENST00000424733.1_RNA NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1644 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) AGGTATCCGTACTTGAAAACT 0.398000 11 28 0 0 1 0 0 CCNA2 890 broad.mit.edu 37 4 122744747 122744747 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr4:122744747C>T ENST00000274026.5 - 1 340 c.37G>A c.(37-39)Gag>Aag p.E13K NM_001237.3 NP_001228 P20248 CCNA2_HUMAN cyclin A2 13 cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity cytoplasm|nucleoplasm protein kinase binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 12 GAGCCCGCCTCGCGGGTCGCA 0.682000 4 8 0 0 1 0 0 XIAP 331 broad.mit.edu 37 X 123020109 123020109 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chrX:123020109G>T ENST00000371199.3 + 2 896 c.597G>T c.(595-597)caG>caT p.Q199H XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Missense_Mutation_p.Q199H|XIAP_ENST00000355640.3_Missense_Mutation_p.Q199H NM_001167.3 NP_001158.2 P98170 XIAP_HUMAN X-linked inhibitor of apoptosis 199 anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus cytosol caspase inhibitor activity|ligase activity|protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3) 25 ACCAAGTGCAGTGCTTTTGTT 0.463000 X-linked Lymphoproliferative syndrome 25 11 2.39556e-15 2.61134e-15 1 1 0 CSTF1 1477 broad.mit.edu 37 20 54970640 54970640 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr20:54970640G>A ENST00000217109.4 + 2 384 c.32G>A c.(31-33)cGc>cAc p.R11H CSTF1_ENST00000493039.1_3'UTR NM_001033521.1|NM_001324.2 NP_001028693.1|NP_001315.1 Q05048 CSTF1_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa 11 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 15 Colorectal(105;0.202) TTGAAGGACCGCCAGCAGCTC 0.498000 9 66 0 0 1 0 0 ALG10 84920 broad.mit.edu 37 12 34175657 34175657 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:34175657C>G ENST00000266483.2 + 1 442 c.123C>G c.(121-123)caC>caG p.H41Q RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Missense_Mutation_p.H41Q NM_032834.3 NP_116223.3 Q5BKT4 AG10A_HUMAN ALG10, alpha-1,2-glucosyltransferase 41 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) AGATCTTCCACCTGCCTCAGG 0.617000 78 118 0 0 1 0 0 USP22 23326 broad.mit.edu 37 17 20910273 20910273 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:20910273G>A ENST00000261497.4 - 10 1461 c.1258C>T c.(1258-1260)Cgg>Tgg p.R420W USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Missense_Mutation_p.R408W NM_015276.1 NP_056091.1 Q9UPT9 UBP22_HUMAN ubiquitin specific peptidase 22 420 cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 15 GTGATCTTCCGCCGCAGCTTG 0.547000 5 12 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16621380 16621380 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:16621380A>G ENST00000375592.3 - 4 616 c.400T>C c.(400-402)Tat>Cat p.Y134H FBXO42_ENST00000478089.1_5'UTR NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 134 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) CCAAACACATACATAGACTGA 0.423000 62 59 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124437940 124437940 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:124437940G>C ENST00000291478.5 + 27 3656 c.3493G>C c.(3493-3495)Gac>Cac p.D1165H KALRN_ENST00000360013.3_Missense_Mutation_p.D2862H|KALRN_ENST00000428018.2_Missense_Mutation_p.D1133H NM_007064.3 NP_008995.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase apoptosis|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|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CCTGGGGACAGACATCTGGAG 0.547000 62 51 0 0 1 0 0 CHCHD1 118487 broad.mit.edu 37 10 75541837 75541837 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:75541837G>A ENST00000372837.3 + 1 33 c.4G>A c.(4-6)Gcg>Acg p.A2T CHCHD1_ENST00000372833.5_Missense_Mutation_p.A2T Q96BP2 CHCH1_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 1 2 nucleus breast(1) 1 Prostate(51;0.0112) GTGCGCTATGGCGACACCCAG 0.662000 19 25 0 0 1 0 0 ESRRB 2103 broad.mit.edu 37 14 76905875 76905875 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr14:76905875C>T ENST00000380887.2 + 2 251 c.179C>T c.(178-180)cCc>cTc p.P60L ESRRB_ENST00000261532.7_Missense_Mutation_p.P60L|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Missense_Mutation_p.P60L|ESRRB_ENST00000509242.1_Missense_Mutation_p.P60L A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 60 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) GACTCGCCACCCATGTTTGCA 0.677000 17 11 0 0 1 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44217224 44217224 + Silent SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:44217224G>A ENST00000371554.1 + 3 472 c.258G>A c.(256-258)ttG>ttA p.L86L HSP90AB1_ENST00000353801.3_Silent_p.L86L|HSP90AB1_ENST00000371646.5_Silent_p.L86L P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 86 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CCCTGACTTTGGTAGACACAG 0.458000 84 84 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21716181 21716181 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:21716181C>A ENST00000261195.2 - 6 1176 c.922G>T c.(922-924)Gtt>Ttt p.V308F NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 308 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TGACCTCGAACAAAATCTTGG 0.328000 42 23 6.4771e-29 7.33e-29 1 1 0 PLXNA1 5361 broad.mit.edu 37 3 126746897 126746897 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:126746897C>T ENST00000251772.4 + 23 4477 c.4408C>T c.(4408-4410)Ctc>Ttc p.L1470F PLXNA1_ENST00000393409.2_Missense_Mutation_p.L1493F Q9UIW2 PLXA1_HUMAN plexin A1 1493 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) TGAGGACAAGCTCATCCGGCA 0.627000 17 54 0 0 1 0 0 IVNS1ABP 10625 broad.mit.edu 37 1 185269385 185269385 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:185269385G>A ENST00000367498.3 - 12 1955 c.1333C>T c.(1333-1335)Cct>Tct p.P445S IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.P227S NM_006469.4 NP_006460.2 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 445 interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2) 29 TCTGGAACAGGAATCCAGTCA 0.368000 16 37 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186969426 186969426 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:186969426A>G ENST00000337774.5 - 7 1396 c.1007T>C c.(1006-1008)cTg>cCg p.L336P MASP1_ENST00000169293.6_Missense_Mutation_p.L336P|MASP1_ENST00000296280.6_Missense_Mutation_p.L336P|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.L310P|MASP1_ENST00000392472.2_Missense_Mutation_p.L223P NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 336 Sushi 1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CTGCACCTTCAGCACTTTGTA 0.557000 36 65 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182850557 182850557 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:182850557C>G ENST00000367549.3 + 23 2893 c.2783C>G c.(2782-2784)gCt>gGt p.A928G DHX9_ENST00000485081.1_3'UTR NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 928 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 TGGGATGATGCTAGGTATGAG 0.383000 57 216 0 0 1 0 0 FEN1 2237 broad.mit.edu 37 11 61563165 61563165 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:61563165T>C ENST00000305885.2 + 2 745 c.332T>C c.(331-333)cTg>cCg p.L111P FADS2_ENST00000574708.1_Intron NM_004111.5 NP_004102.1 P39748 FEN1_HUMAN flap structure-specific endonuclease 1 111 base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection mitochondrion|nucleolus|nucleoplasm 5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity endometrium(1)|large_intestine(4)|lung(1)|ovary(1) 7 GAGAAGCAGCTGCAGCAGGCT 0.582000 Editing and processing nucleases 15 84 0 0 1 0 0 KRTAP20-1 337975 broad.mit.edu 37 21 31988892 31988892 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr21:31988892G>A ENST00000334664.2 + 1 143 c.119G>A c.(118-120)gGc>gAc p.G40D NM_181615.1 NP_853646.1 Q3LI63 KR201_HUMAN keratin associated protein 20-1 40 intermediate filament breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1) 7 TATGGAAATGGCTACTACTGC 0.458000 68 56 0 0 1 0 0 ZNF85 7639 broad.mit.edu 37 19 21132065 21132065 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:21132065A>G ENST00000601023.1 + 2 1214 c.568A>G c.(568-570)Aag>Gag p.K190E ZNF85_ENST00000328178.8_Missense_Mutation_p.K249E|ZNF85_ENST00000345030.6_Missense_Mutation_p.K216E Q03923 ZNF85_HUMAN zinc finger protein 85 249 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 TATTAAACATAAGAAAATTCA 0.348000 32 37 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28475549 28475549 + Silent SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr15:28475549A>G ENST00000261609.7 - 31 4881 c.4773T>C c.(4771-4773)aaT>aaC p.N1591N NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 1591 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TCTTGTCCACATTTATTGGAC 0.398000 41 34 0 0 1 0 0 ANKRD28 23243 broad.mit.edu 37 3 15731661 15731661 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:15731661T>C ENST00000399451.2 - 18 2105 c.1738A>G c.(1738-1740)Aat>Gat p.N580D ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.N613D NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 580 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 CCACTACTATTTCTGACATCA 0.368000 17 12 0 0 1 0 0 NUDCD3 23386 broad.mit.edu 37 7 44524827 44524827 + Silent SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:44524827T>C ENST00000355451.7 - 2 528 c.249A>G c.(247-249)gaA>gaG p.E83E NM_015332.3 NP_056147.2 Q8IVD9 NUDC3_HUMAN NudC domain containing 3 endometrium(2)|large_intestine(1)|lung(3)|skin(1) 7 TCTCTTCAAGTTCCTGCCTTC 0.468000 15 60 0 0 1 0 0 C14orf166B 145497 broad.mit.edu 37 14 77297621 77297621 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr14:77297621T>C ENST00000393774.3 + 3 417 c.293T>C c.(292-294)gTc>gCc p.V98A C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Missense_Mutation_p.V81A NM_194287.2 NP_919263.2 Q0VAA2 CN16B_HUMAN chromosome 14 open reading frame 166B 98 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) GTAGTGCCTGTCTCCTACTTC 0.532000 17 26 0 0 1 0 0 PAGE5 90737 broad.mit.edu 37 X 55250422 55250422 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chrX:55250422G>A ENST00000289619.5 + 5 624 c.379G>A c.(379-381)Gaa>Aaa p.E127K PAGE5_ENST00000374952.1_Missense_Mutation_p.E90K|PAGE5_ENST00000374955.3_Missense_Mutation_p.E107K NM_130467.3 NP_569734.2 Q96GU1 GGEE1_HUMAN P antigen family, member 5 (prostate associated) 127 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 tattataGGTGAAGGGCAACT 0.299000 7 45 0 0 1 0 0 NBEAP1 606 broad.mit.edu 37 15 20874815 20874815 + RNA SNP T T A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr15:20874815T>A ENST00000556948.1 - 0 433 TTAGGTGTAATGCCACTACTG 0.358000 32 256 0 0 1 0 0 RNF19A 25897 broad.mit.edu 37 8 101276292 101276292 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:101276292T>C ENST00000519449.1 - 8 1754 c.1438A>G c.(1438-1440)Ata>Gta p.I480V RNF19A_ENST00000523255.1_Intron|RNF19A_ENST00000341084.2_Missense_Mutation_p.I480V NM_001280539.1|NM_015435.3 NP_001267468.1|NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 480 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) CCAACATTTATATCATTTTCA 0.408000 12 159 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42156121 42156121 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr15:42156121G>T ENST00000320955.6 - 40 7247 c.7020C>A c.(7018-7020)agC>agA p.S2340R NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 2340 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) TGTTGAGCTGGCTTCGCCGCT 0.602000 131 24 1.14069e-62 1.31345e-62 1 1 0 NEK3 4752 broad.mit.edu 37 13 52707315 52707315 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr13:52707315T>C ENST00000400357.2 - 14 2726 c.1433A>G c.(1432-1434)aAg>aGg p.K478R NEK3_ENST00000339406.3_Missense_Mutation_p.K495R|NEK3_ENST00000378101.2_Missense_Mutation_p.K495R|NEK3_ENST00000452082.2_Missense_Mutation_p.K499R P51956 NEK3_HUMAN NIMA-related kinase 3 495 cell division|mitosis nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2) 18 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.81e-08) AGCTCGCTTCTTCAGCTCTGA 0.502000 3 2 0 0 1 0 0 BCO2 83875 broad.mit.edu 37 11 112064677 112064677 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:112064677T>C ENST00000357685.5 + 4 728 c.593T>C c.(592-594)aTg>aCg p.M198T BCO2_ENST00000393032.2_Missense_Mutation_p.M164T|BCO2_ENST00000532593.1_Missense_Mutation_p.M93T|BCO2_ENST00000531169.1_Missense_Mutation_p.M164T|BCO2_ENST00000361053.4_Intron|BCO2_ENST00000526088.1_Missense_Mutation_p.M164T|AP002884.3_ENST00000532612.1_Intron|BCO2_ENST00000438022.1_Missense_Mutation_p.M164T Q9BYV7 BCDO2_HUMAN beta-carotene oxygenase 2 198 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 ACCAACTTTATGAATAAAGTG 0.338000 73 16 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 4 48 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156642471 156642471 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:156642471C>T ENST00000368223.3 - 4 1641 c.1509G>A c.(1507-1509)ggG>ggA p.G503G NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 503 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCTCTACCAACCCCCAGATTT 0.502000 40 182 0 0 1 0 0 CTSK 1513 broad.mit.edu 37 1 150772119 150772119 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:150772119C>T ENST00000271651.3 - 6 795 c.685G>A c.(685-687)Gag>Aag p.E229K NM_000396.3 NP_000387.1 P43235 CATK_HUMAN cathepsin K 229 proteolysis lysosome cysteine-type endopeptidase activity|protein binding cervix(1)|endometrium(1)|lung(4)|skin(1) 7 all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) TCATTCCCCTCGGGGATCTCT 0.512000 13 158 0 0 1 0 0 WDR52 55779 broad.mit.edu 37 3 113128028 113128028 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:113128028G>A ENST00000393845.2 - 7 881 c.815C>T c.(814-816)tCt>tTt p.S272F WDR52_ENST00000295868.2_Missense_Mutation_p.S272F|WDR52-AS1_ENST00000473329.1_RNA|WDR52-AS1_ENST00000498480.1_RNA NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 272 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 AACTTCCTGAGAAAAAGCTTT 0.438000 24 262 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182852703 182852703 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:182852703C>T ENST00000367549.3 + 26 3303 c.3193C>T c.(3193-3195)Ctg>Ttg p.L1065L DHX9_ENST00000485081.1_3'UTR NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 1065 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 AGTCACCCCCCTGCAGTTGCT 0.433000 40 116 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118642346 118642346 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:118642346C>T ENST00000336338.5 - 6 777 c.712G>A c.(712-714)Gct>Act p.A238T NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 238 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CCAAGCTCAGCCATAATTGCT 0.418000 33 116 0 0 1 0 0 STRADB 55437 broad.mit.edu 37 2 202337718 202337718 + Silent SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:202337718G>A ENST00000194530.3 + 5 599 c.234G>A c.(232-234)cgG>cgA p.R78R STRADB_ENST00000392249.2_Silent_p.R78R NM_001206864.1|NM_018571.5 NP_001193793.1|NP_061041.2 Q9C0K7 STRAB_HUMAN STE20-related kinase adaptor beta 78 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|protein binding|protein kinase activity p.R78R(2) breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1) 13 ATCTTGCACGGCATACTCCCA 0.353000 4 161 0 0 1 0 0 SEL1L2 80343 broad.mit.edu 37 20 13866039 13866039 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr20:13866039C>G ENST00000284951.5 - 10 985 c.911G>C c.(910-912)gGa>gCa p.G304A SEL1L2_ENST00000378072.5_Missense_Mutation_p.G304A|SEL1L2_ENST00000486903.1_5'UTR Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 304 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 ATGTAATTGTCCAAGAGAGAC 0.373000 41 55 0 0 1 0 0 CCDC81 60494 broad.mit.edu 37 11 86098632 86098632 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:86098632C>T ENST00000445632.2 + 3 488 c.216C>T c.(214-216)atC>atT p.I72I CCDC81_ENST00000278487.3_5'UTR|CCDC81_ENST00000354755.1_Silent_p.I72I NM_001156474.1 NP_001149946.1 Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 72 kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) ACAAATTTATCTTAATCCAGA 0.363000 39 65 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45867687 45867687 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:45867687T>C ENST00000391945.4 - 8 790 c.713A>G c.(712-714)aAc>aGc p.N238S ERCC2_ENST00000391944.3_Missense_Mutation_p.N160S|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000485403.2_Missense_Mutation_p.N214S|ERCC2_ENST00000391940.4_Missense_Mutation_p.N214S NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 238 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|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|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding p.N238S(1) large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CTCACCAATGTTGTGGGCCTC 0.637000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 22 12 0 0 1 0 0 NAPSA 9476 broad.mit.edu 37 19 50862018 50862018 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:50862018C>T ENST00000253719.2 - 9 1263 c.1055G>A c.(1054-1056)cGc>cAc p.R352H NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 352 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) CAAGCAGAGGCGGACGCCATT 0.632000 8 30 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179428667 179428667 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:179428667C>T ENST00000589042.1 - 326 82416 c.82192G>A c.(82192-82194)Ggt>Agt p.G27398S TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G18458S|TTN_ENST00000342175.6_Missense_Mutation_p.G18525S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G18333S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G24830S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G25757S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25757 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTAGCACCACCATCTTGCAAA 0.473000 23 85 0 0 1 0 0 UVRAG 7405 broad.mit.edu 37 11 75852349 75852349 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:75852349G>C ENST00000356136.3 + 15 2233 c.1992G>C c.(1990-1992)gaG>gaC p.E664D UVRAG_ENST00000531818.1_Missense_Mutation_p.E292D|UVRAG_ENST00000538870.1_Missense_Mutation_p.E220D|UVRAG_ENST00000528420.1_Missense_Mutation_p.E563D|UVRAG_ENST00000532130.1_Missense_Mutation_p.E292D|UVRAG_ENST00000533454.1_Missense_Mutation_p.E292D|UVRAG_ENST00000539288.1_Missense_Mutation_p.E292D NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 664 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 TGGCAGTAGAGTGTGACGAAC 0.517000 44 11 0 0 1 0 0 RAPH1 65059 broad.mit.edu 37 2 204320185 204320185 + Missense_Mutation SNP T T A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:204320185T>A ENST00000319170.5 - 9 1576 c.1277A>T c.(1276-1278)tAc>tTc p.Y426F RAPH1_ENST00000419464.1_Missense_Mutation_p.Y426F|RAPH1_ENST00000418114.1_Missense_Mutation_p.Y426F|RAPH1_ENST00000457812.1_Missense_Mutation_p.Y426F|RAPH1_ENST00000423104.1_Missense_Mutation_p.Y453F|RAPH1_ENST00000453034.1_Missense_Mutation_p.Y478F|RAPH1_ENST00000308091.4_Missense_Mutation_p.Y478F|RAPH1_ENST00000374488.2_Missense_Mutation_p.Y451F|RAPH1_ENST00000374489.2_Missense_Mutation_p.Y453F|RAPH1_ENST00000439222.1_Missense_Mutation_p.Y451F|RAPH1_ENST00000374493.3_Missense_Mutation_p.Y478F NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 426 PH. cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GGGAACATAGTAGATACCAGA 0.388000 80 72 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132207201 132207201 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:132207201C>T ENST00000260818.6 + 30 3575 c.3327C>T c.(3325-3327)atC>atT p.I1109I NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1109 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TATACCATATCATGCAAGATA 0.373000 73 62 0 0 1 0 0 OLIG3 167826 broad.mit.edu 37 6 137814777 137814777 + Silent SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:137814777G>A ENST00000367734.2 - 1 754 c.531C>T c.(529-531)tcC>tcT p.S177S NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) CCGGGTGCACGGAGTTGGCCG 0.706000 12 23 0 0 1 0 0 C6orf47 57827 broad.mit.edu 37 6 31627692 31627692 + Silent SNP A A C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:31627692A>C ENST00000375911.1 - 1 857 c.33T>G c.(31-33)ccT>ccG p.P11P C6orf47-AS1_ENST00000422049.1_RNA NM_021184.3 NP_067007.3 O95873 CF047_HUMAN chromosome 6 open reading frame 47 11 NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 CCCAAGGGCGAGGTAGCCAGC 0.602000 5 15 0 0 1 0 0 HRH2 3274 broad.mit.edu 37 5 175111304 175111304 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:175111304C>T ENST00000231683.2 + 1 2841 c.1068C>T c.(1066-1068)gcC>gcT p.A356A HRH2_ENST00000377291.2_Silent_p.A356A NM_022304.2 NP_071640.1 P25021 HRH2_HUMAN histamine receptor H2 356 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) CCCAGGGAGCCACAGACAGGT 0.577000 15 79 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23731039 23731039 + Missense_Mutation SNP A A C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr9:23731039A>C ENST00000397312.2 - 3 588 c.314T>G c.(313-315)cTt>cGt p.L105R ELAVL2_ENST00000223951.6_Missense_Mutation_p.L105R|ELAVL2_ENST00000380110.4_Missense_Mutation_p.L134R|ELAVL2_ENST00000544538.1_Missense_Mutation_p.L105R|ELAVL2_ENST00000380117.1_Missense_Mutation_p.L105R NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 105 RRM 1. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) TTTGGTTTGAAGTCTCAATCC 0.343000 20 28 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179428666 179428666 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:179428666C>A ENST00000589042.1 - 326 82417 c.82193G>T c.(82192-82194)gGt>gTt p.G27398V TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G18458V|TTN_ENST00000342175.6_Missense_Mutation_p.G18525V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G18333V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G24830V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G25757V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25757 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTAGCACCACCATCTTGCAA 0.473000 24 83 5.35047e-06 5.52758e-06 1 1 0 SVIL 6840 broad.mit.edu 37 10 29812501 29812501 + Silent SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:29812501T>C ENST00000375398.2 - 17 3491 c.3042A>G c.(3040-3042)gaA>gaG p.E1014E SVIL_ENST00000355867.4_Silent_p.E1014E|SVIL_ENST00000375400.3_Silent_p.E588E O95425 SVIL_HUMAN supervillin 1014 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) ATTCCTTCGGTTCATCCCCGA 0.507000 13 60 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114290834 114290834 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:114290834C>A ENST00000297405.5 - 3 745 c.501G>T c.(499-501)aaG>aaT p.K167N CSMD3_ENST00000343508.3_Missense_Mutation_p.K127N|CSMD3_ENST00000455883.2_Missense_Mutation_p.K167N|CSMD3_ENST00000352409.3_Missense_Mutation_p.K167N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 167 CUB 1. 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 CGTAATATACCTTAAATCCAT 0.388000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 47 0.00116845 0.00118442 1 1 0 ZHX2 22882 broad.mit.edu 37 8 123966145 123966145 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:123966145G>C ENST00000314393.4 + 3 3230 c.2395G>C c.(2395-2397)Ggg>Cgg p.G799R NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 799 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) GGTGACGGTCGGGGAGGAGGA 0.617000 17 13 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153130847 153130847 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chrX:153130847G>A ENST00000370060.1 - 21 2845 c.2656C>T c.(2656-2658)Cgg>Tgg p.R886W L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W|L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 886 Fibronectin type-III 3. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane p.R886W(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTATAGGGCCGCAAGCCACTG 0.612000 4 147 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25958861 25958861 + Silent SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr15:25958861G>A ENST00000356865.6 - 10 2415 c.2304C>T c.(2302-2304)gcC>gcT p.A768A NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 768 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) CCACTGAGTCGGCCCCCTTGG 0.602000 29 13 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67331464 67331464 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr16:67331464G>C ENST00000304372.5 - 7 1144 c.1089C>G c.(1087-1089)atC>atG p.I363M NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 363 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) AAGCAACTTTGATTGGCTCGT 0.502000 18 40 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62193082 62193082 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr20:62193082C>T ENST00000467148.1 - 12 6777 c.6708G>A c.(6706-6708)agG>agA p.R2236R HELZ2_ENST00000427522.2_Silent_p.R1667R NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator TCAGCTCCATCCTTCTCAGGA 0.682000 9 29 0 0 1 0 0 HSD17B2 3294 broad.mit.edu 37 16 82069215 82069215 + Silent SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr16:82069215G>C ENST00000199936.4 + 1 379 c.186G>C c.(184-186)tcG>tcC p.S62S NM_002153.2 NP_002144.1 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 62 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 NADH(DB00157) TCCTCTTCTCGGTGTCATGCT 0.532000 52 26 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43860539 43860539 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:43860539T>C ENST00000389420.3 - 9 1282 c.1283A>G c.(1282-1284)cAt>cGt p.H428R ADAMTS20_ENST00000553158.1_Missense_Mutation_p.H428R NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 428 Peptidase M12B. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GGCCATTACATGATACTTTGT 0.313000 19 105 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66192522 66192522 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:66192522G>T ENST00000311034.2 + 7 2337 c.2161G>T c.(2161-2163)Gat>Tat p.D721Y NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 721 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CTCTACCCCAGATCCCAGTGA 0.587000 30 122 1.2476e-16 1.37514e-16 1 1 0 CDH23 64072 broad.mit.edu 37 10 73439199 73439199 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:73439199C>A ENST00000224721.6 + 16 1828 c.1823C>A c.(1822-1824)gCa>gAa p.A608E CDH23_ENST00000299366.7_Missense_Mutation_p.A648E NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 603 Cadherin 6. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 ATTGTCAGTGCATCTGCCTTT 0.597000 6 3 3.59834e-05 3.68534e-05 1 1 0 KLHL9 55958 broad.mit.edu 37 9 21333785 21333785 + Silent SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr9:21333785A>G ENST00000359039.4 - 1 1594 c.1074T>C c.(1072-1074)taT>taC p.Y358Y KLHL9_ENST00000537938.1_Silent_p.Y290Y Q9P2J3 KLHL9_HUMAN kelch-like family member 9 358 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2) 32 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) CTTTTGTATCATAATTACTCT 0.383000 17 62 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61622073 61622073 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:61622073G>A ENST00000398571.2 - 5 744 c.668C>T c.(667-669)tCt>tTt p.S223F NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 223 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) CTTCATGAGAGAAAGGCCATT 0.333000 24 41 0 0 1 0 0 OR6Q1 219952 broad.mit.edu 37 11 57798886 57798886 + Silent SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:57798886G>A ENST00000302622.3 + 1 485 c.462G>A c.(460-462)ctG>ctA p.L154L OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) CCTGTTGGCTGGTAGGTTTCC 0.512000 19 108 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198968646 198968646 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:198968646A>G ENST00000428675.1 + 5 3489 c.3091A>G c.(3091-3093)Att>Gtt p.I1031V PLCL1_ENST00000437704.2_Missense_Mutation_p.I933V NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 1031 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) TGCTTGGAACATTACAGTATT 0.398000 8 18 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108923844 108923844 + Silent SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:108923844C>G ENST00000263054.6 - 1 448 c.441G>C c.(439-441)ccG>ccC p.P147P SORCS1_ENST00000344440.6_Silent_p.P147P NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 147 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TGGCTTTGTCCGGGTCCCGCT 0.647000 19 37 0 0 1 0 0 DIS3 22894 broad.mit.edu 37 13 73336128 73336128 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr13:73336128C>T ENST00000377767.4 - 17 2375 c.2275G>A c.(2275-2277)Gat>Aat p.D759N DIS3_ENST00000545453.1_Missense_Mutation_p.D597N|DIS3_ENST00000377780.4_Missense_Mutation_p.D729N NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 759 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) AAATCATTATCCATTCCAGAA 0.373000 Multiple Myeloma(4;0.011) 27 14 0 0 1 0 0 FANCL 55120 broad.mit.edu 37 2 58392925 58392925 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:58392925C>T ENST00000402135.3 - 8 676 c.640G>A c.(640-642)Gag>Aag p.E214K FANCL_ENST00000233741.4_Missense_Mutation_p.E209K|FANCL_ENST00000403676.1_Missense_Mutation_p.E92K|FANCL_ENST00000540646.1_3'UTR|FANCL_ENST00000403295.3_Missense_Mutation_p.E209K NM_001114636.1 NP_001108108.1 Q9NW38 FANCL_HUMAN Fanconi anemia, complementation group L 209 DNA repair cytoplasm|nucleoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(2) 8 CAGGTCTTCTCATCGATTTCA 0.408000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 47 69 0 0 1 0 0 DDB2 1643 broad.mit.edu 37 11 47256391 47256391 + Silent SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:47256391C>G ENST00000256996.4 + 6 981 c.786C>G c.(784-786)tcC>tcG p.S262S DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378603.3_Silent_p.S198S|DDB2_ENST00000378601.3_Intron NM_000107.2 NP_000098.1 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2, 48kDa 262 nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1) 17 CCACAGCCTCCGTAGATCAAA 0.532000 """Mis, N""" """skin basal cell, skin squamous cell, melanoma""" Direct reversal of damage;Nucleotide excision repair (NER) Xeroderma Pigmentosum 13 24 0 0 1 0 0 FBXO18 84893 broad.mit.edu 37 10 5979159 5979159 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:5979159C>T ENST00000379999.5 + 22 3305 c.3201C>T c.(3199-3201)tcC>tcT p.S1067S FBXO18_ENST00000362091.4_Silent_p.S1016S|FBXO18_ENST00000397269.3_Silent_p.S520S|RP11-536K7.3_ENST00000397264.4_RNA NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 1016 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 TGACAGCCTCCCCGGAGCAGG 0.637000 21 29 0 0 1 0 0 PLA2G2F 64600 broad.mit.edu 37 1 20474795 20474795 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:20474795C>T ENST00000375102.3 + 5 639 c.537C>T c.(535-537)gtC>gtT p.V179V NM_022819.3 NP_073730.3 Q9BZM2 PA2GF_HUMAN phospholipase A2, group IIF 136 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) TCCTCAATGTCTACTGCCAGG 0.587000 73 41 0 0 1 0 0 NKAIN2 154215 broad.mit.edu 37 6 125139601 125139601 + Nonsense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:125139601C>T ENST00000368417.1 + 6 664 c.604C>T c.(604-606)Cag>Tag p.Q202* NKAIN2_ENST00000546092.1_Nonsense_Mutation_p.Q135*|NKAIN2_ENST00000545433.1_Nonsense_Mutation_p.Q187* NM_001040214.1 NP_001035304.1 Q5VXU1 NKAI2_HUMAN Na+/K+ transporting ATPase interacting 2 202 integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) TTTACAACTACAGCCTATGTA 0.373000 31 36 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39502894 39502894 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:39502894T>C ENST00000265707.5 + 11 992 c.947T>C c.(946-948)aTt>aCt p.I316T ADAM18_ENST00000379866.1_Missense_Mutation_p.I292T|ADAM18_ENST00000541111.1_5'UTR NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 316 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TTTTCGGTTATTATAGCTCAA 0.328000 70 196 0 0 1 0 0 S100A13 6284 broad.mit.edu 37 1 153591383 153591383 + Silent SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:153591383G>A ENST00000368699.1 - 5 788 c.285C>T c.(283-285)atC>atT p.I95I S100A13_ENST00000440685.2_Silent_p.I95I|S100A13_ENST00000392623.1_Silent_p.I95I|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000339556.4_Silent_p.I95I|S100A13_ENST00000392622.1_Silent_p.I95I NM_001024210.1 NP_001019381.1 Q99584 S10AD_HUMAN S100 calcium binding protein A13 95 interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|extracellular space|nucleus|perinuclear region of cytoplasm calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(4) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) Amlexanox(DB01025) ACTTCTTCCTGATCTTCAGGT 0.522000 59 182 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116435017 116435017 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:116435017C>T ENST00000281928.3 - 15 2794 c.2588G>A c.(2587-2589)aGg>aAg p.R863K NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 863 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GGGAAACATCCTTTGCAAGTC 0.403000 23 71 0 0 1 0 0 NPBWR2 2832 broad.mit.edu 37 20 62737190 62737190 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr20:62737190C>T ENST00000369768.1 - 1 1334 c.995G>A c.(994-996)cGg>cAg p.R332Q NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 332 plasma membrane opioid receptor activity|protein binding p.R332Q(1) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) CCTTCAGCACCGCAATATGCT 0.567000 31 18 0 0 1 0 0 DPYS 1807 broad.mit.edu 37 8 105441905 105441905 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:105441905A>G ENST00000351513.2 - 5 950 c.818T>C c.(817-819)aTa>aCa p.I273T NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 273 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) ACTGGCTGCTATGGGTTCACC 0.438000 22 91 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133209345 133209345 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:133209345C>G ENST00000320574.5 - 44 6084 c.6041G>C c.(6040-6042)gGg>gCg p.G2014A POLE_ENST00000535270.1_Missense_Mutation_p.G1987A NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 2014 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GCGCCTCAGCCCGTCCTTCAT 0.672000 DNA polymerases (catalytic subunits) 7 82 0 0 1 0 0 CRYGD 1421 broad.mit.edu 37 2 208986530 208986530 + Nonsense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:208986530C>T ENST00000264376.4 - 3 419 c.392G>A c.(391-393)tGg>tAg p.W131* NM_006891.3 NP_008822.2 P07320 CRGD_HUMAN crystallin, gamma D 131 Beta/gamma crystallin 'Greek key' 4. cellular response to reactive oxygen species|visual perception soluble fraction protein binding|structural constituent of eye lens breast(1)|endometrium(1)|lung(3) 5 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) GTAGAGGACCCAGGAGCCCTC 0.582000 23 95 0 0 1 0 0 ADCY6 112 broad.mit.edu 37 12 49168271 49168271 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:49168271G>A ENST00000307885.4 - 13 2891 c.2197C>T c.(2197-2199)Cgc>Tgc p.R733C ADCY6_ENST00000357869.3_Missense_Mutation_p.R733C|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Missense_Mutation_p.R733C NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 733 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 ACAATGCTGCGGGACAGACGT 0.547000 8 74 0 0 1 0 0 BMP2 650 broad.mit.edu 37 20 6750884 6750884 + Silent SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr20:6750884G>A ENST00000378827.4 + 2 1330 c.111G>A c.(109-111)tcG>tcA p.S37S NM_001200.2 NP_001191.1 P12643 BMP2_HUMAN bone morphogenetic protein 2 37 S -> A (in dbSNP:rs2273073). BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 13 Simvastatin(DB00641) CGGCGGCGTCGTCGGGCCGCC 0.687000 10 6 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70896052 70896052 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr16:70896052C>T ENST00000393567.2 - 69 11826 c.11676G>A c.(11674-11676)gtG>gtA p.V3892V NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3892 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AAGAGGGCTCCACAGAGAAGG 0.547000 17 8 0 0 1 0 0 FLOT2 2319 broad.mit.edu 37 17 27208908 27208908 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:27208908T>C ENST00000394906.2 - 10 1080 c.1003A>G c.(1003-1005)Aag>Gag p.K335E FLOT2_ENST00000585169.1_Missense_Mutation_p.K280E|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394908.4_Missense_Mutation_p.K280E Q14254 FLOT2_HUMAN flotillin 2 280 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction endometrium(3)|lung(6)|prostate(1)|urinary_tract(1) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) ATGAGCTCCTTGTCCGTACGC 0.617000 24 73 0 0 1 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58598332 58598332 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:58598332C>A ENST00000240727.6 - 5 1085 c.686G>T c.(685-687)tGg>tTg p.W229L ZSCAN18_ENST00000600404.1_Missense_Mutation_p.W285L|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.W229L|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.W94L NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 229 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CAGGTGGCCCCACTCCCCCAG 0.637000 11 45 3.07112e-06 3.17831e-06 1 1 0 TMPRSS15 5651 broad.mit.edu 37 21 19775860 19775860 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr21:19775860A>G ENST00000284885.3 - 1 113 c.80T>C c.(79-81)aTa>aCa p.I27T NM_002772.2 NP_002763 P98073 ENTK_HUMAN transmembrane protease, serine 15 27 proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 CACTACCAATATGGCAAAGAG 0.453000 60 44 0 0 1 0 0 MAP3K10 4294 broad.mit.edu 37 19 40720904 40720904 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:40720904G>A ENST00000253055.3 + 10 2858 c.2570G>A c.(2569-2571)cGc>cAc p.R857H NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 857 activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity p.R857H(1) NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 GACTTCCCCCGCCTGCCCGAC 0.677000 12 13 0 0 1 0 0 OR1G1 8390 broad.mit.edu 37 17 3030698 3030698 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:3030698T>C ENST00000328890.2 - 1 177 c.148A>G c.(148-150)Att>Gtt p.I50V NM_003555.1 NP_003546.1 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, member 1 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 GTGTCAGTAATGATGACTAGA 0.522000 5 50 0 0 1 0 0 NKX2-3 159296 broad.mit.edu 37 10 101295003 101295003 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:101295003G>C ENST00000344586.7 + 2 819 c.620G>C c.(619-621)cGg>cCg p.R207P NM_145285.2 NP_660328.2 Q8TAU0 NKX23_HUMAN NK2 homeobox 3 207 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 5 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.45e-08) AAGAGACAGCGGCAGGACAAG 0.672000 4 10 0 0 1 0 0 ARHGAP5 394 broad.mit.edu 37 14 32560072 32560072 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr14:32560072T>C ENST00000345122.3 + 2 512 c.197T>C c.(196-198)gTa>gCa p.V66A ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V66A|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V66A|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V66A|ARHGAP5_ENST00000396582.2_Intron NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 66 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) GGAGGACGAGTAGTAAACAAT 0.363000 5 192 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38211203 38211203 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr13:38211203C>A ENST00000379705.3 - 11 3628 c.2771G>T c.(2770-2772)gGa>gTa p.G924V TRPC4_ENST00000379681.3_Missense_Mutation_p.G929V|TRPC4_ENST00000379679.1_Missense_Mutation_p.G751V|TRPC4_ENST00000355779.2_Missense_Mutation_p.G783V|TRPC4_ENST00000379673.2_Missense_Mutation_p.G775V|TRPC4_ENST00000338947.5_Missense_Mutation_p.G751V|TRPC4_ENST00000447043.1_Missense_Mutation_p.G783V|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000358477.2_Missense_Mutation_p.G840V Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 924 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CACTCTCTTTCCTACCTGTAA 0.463000 15 106 6.72482e-11 7.17234e-11 1 1 0 AK9 221264 broad.mit.edu 37 6 109962787 109962787 + Silent SNP T T G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:109962787T>G ENST00000424296.2 - 10 943 c.867A>C c.(865-867)ctA>ctC p.L289L AK9_ENST00000368948.2_Silent_p.L289L|AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Silent_p.L289L NM_001145128.2 NP_001138600.2 adenylate kinase 9 CTGCTCTTTTTAGGTTCAGAT 0.323000 11 29 0 0 1 0 0 CNBD1 168975 broad.mit.edu 37 8 88297007 88297007 + Silent SNP T T A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:88297007T>A ENST00000518476.1 + 7 924 c.873T>A c.(871-873)ctT>ctA p.L291L NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 291 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 GTGAAATTCTTAAAATCCCAG 0.358000 7 22 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42501721 42501721 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:42501721T>C ENST00000434000.1 - 7 536 c.254A>G c.(253-255)aAg>aGg p.K85R GPATCH8_ENST00000591680.1_Missense_Mutation_p.K163R Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 163 G-patch. intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) ACTCACCTGCTTGTGTGCATG 0.373000 62 77 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 980882 980882 + Missense_Mutation SNP G G A rs148315419 TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:980882G>A ENST00000379370.2 + 14 2565 c.2515G>A c.(2515-2517)Gat>Aat p.D839N NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 839 Laminin EGF-like 1. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CATCGTCACCGATGGCCGGAG 0.642000 11 74 0 0 1 0 0 PSMD5 5711 broad.mit.edu 37 9 123586847 123586847 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr9:123586847T>C ENST00000210313.3 - 7 1005 c.931A>G c.(931-933)Atg>Gtg p.M311V PSMD5_ENST00000373904.5_Missense_Mutation_p.M268V NM_001270427.1|NM_005047.3 NP_001257356.1|NP_005038.1 Q16401 PSMD5_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 311 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1) 10 ACACCAATCATAGTGGGGTCC 0.428000 83 49 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62903510 62903510 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr4:62903510G>A ENST00000512091.2 + 23 4196 c.3449G>A c.(3448-3450)aGt>aAt p.S1150N LPHN3_ENST00000514591.1_Missense_Mutation_p.S1150N|LPHN3_ENST00000514157.1_Missense_Mutation_p.S1141N|LPHN3_ENST00000508693.1_Missense_Mutation_p.S1218N|LPHN3_ENST00000507164.1_Missense_Mutation_p.S1209N|LPHN3_ENST00000506720.1_Missense_Mutation_p.S1218N|LPHN3_ENST00000514996.1_Missense_Mutation_p.S1141N|LPHN3_ENST00000545650.1_Missense_Mutation_p.S1150N|LPHN3_ENST00000509896.1_Missense_Mutation_p.S1218N|LPHN3_ENST00000511324.1_Missense_Mutation_p.S1209N|LPHN3_ENST00000506746.1_Missense_Mutation_p.S1209N|LPHN3_ENST00000507625.1_Missense_Mutation_p.S1209N|LPHN3_ENST00000506700.1_Missense_Mutation_p.S1141N|LPHN3_ENST00000504896.1_Missense_Mutation_p.S1150N|LPHN3_ENST00000508946.1_Missense_Mutation_p.S1150N Q9HAR2 LPHN3_HUMAN latrophilin 3 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 AGTACAGAGAGTTCCATTGGT 0.403000 6 114 0 0 1 0 0 MAN2A1 4124 broad.mit.edu 37 5 109155380 109155380 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:109155380G>C ENST00000261483.4 + 14 3172 c.2120G>C c.(2119-2121)cGa>cCa p.R707P NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 707 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) ATCTCTTTTCGAGCACATATA 0.308000 36 126 0 0 1 0 0 UPF3B 65109 broad.mit.edu 37 X 118968908 118968908 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chrX:118968908C>T ENST00000276201.2 - 11 1454 c.1385G>A c.(1384-1386)gGa>gAa p.G462E UPF3B_ENST00000345865.2_Missense_Mutation_p.G449E NM_080632.2 NP_542199.1 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B (yeast) 462 Sufficient for association with EJC core. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1) 30 TGCTGAATCTCCAGACTTGGT 0.488000 49 20 0 0 1 0 0 DNAJC21 134218 broad.mit.edu 37 5 34936327 34936327 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:34936327G>A ENST00000382021.2 + 4 621 c.394G>A c.(394-396)Gat>Aat p.D132N DNAJC21_ENST00000342382.4_Missense_Mutation_p.D132N|DNAJC21_ENST00000303525.7_Missense_Mutation_p.D132N NM_194283.3 NP_919259.3 Q5F1R6 DJC21_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 21 132 protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GGAAGAGGTTGATGATTTCCC 0.323000 35 105 0 0 1 0 0 SEC22B 9554 broad.mit.edu 37 1 145096583 145096583 + RNA SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:145096583G>A ENST00000453618.1 + 0 364 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding AGTGGCGGACGGGCTCCCGCT 0.622000 6 20 0 0 1 0 0 IGHG3 3502 broad.mit.edu 37 14 106237582 106237582 + RNA SNP C C T rs2983776 TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr14:106237582C>T ENST00000390551.2 - 0 160 GTAGGACAGCCGGGAAGGTGT 0.637000 3 62 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29598891 29598891 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr13:29598891G>A ENST00000431530.3 + 1 144 c.86G>A c.(85-87)aGa>aAa p.R29K NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 19 cytoplasm|microtubule microtubule binding|protein homodimerization activity p.R29I(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CGGGACAACAGAAATGCAGCA 0.458000 32 83 0 0 1 0 0 NSMCE2 286053 broad.mit.edu 37 8 126163434 126163434 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:126163434G>T ENST00000287437.3 + 4 395 c.179G>T c.(178-180)aGt>aTt p.S60I NSMCE2_ENST00000517315.1_5'UTR|NSMCE2_ENST00000522563.1_Missense_Mutation_p.S60I NM_173685.2 NP_775956.1 Q96MF7 NSE2_HUMAN non-SMC element 2, MMS21 homolog (S. cerevisiae) 60 DNA recombination|DNA repair nucleus ligase activity|zinc ion binding breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 9 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) AGTGAATATAGTATGGACAAG 0.313000 54 289 4.25531e-23 4.77917e-23 1 1 0 CNTN5 53942 broad.mit.edu 37 11 100126564 100126564 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:100126564C>A ENST00000524871.1 + 17 2368 c.2078C>A c.(2077-2079)cCa>cAa p.P693Q CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.P693Q|CNTN5_ENST00000527185.1_Missense_Mutation_p.P693Q|CNTN5_ENST00000279463.3_Missense_Mutation_p.P693Q|CNTN5_ENST00000418526.2_Missense_Mutation_p.P619Q NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 693 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TCCTGGAGCCCAGCAGCTGAC 0.512000 16 23 1.3612e-06 1.41862e-06 1 1 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 5 30 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30329183 30329183 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr21:30329183G>C ENST00000389194.2 - 16 3123 c.3118C>G c.(3118-3120)Ctt>Gtt p.L1040V LTN1_ENST00000361371.5_Missense_Mutation_p.L994V NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 994 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 TGGCTGGGAAGTGTCTTTATG 0.338000 41 32 0 0 1 0 0 IGFBP1 3484 broad.mit.edu 37 7 45930260 45930260 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:45930260A>G ENST00000275525.3 + 2 759 c.463A>G c.(463-465)Atc>Gtc p.I155V IGFBP1_ENST00000457280.1_Missense_Mutation_p.I155V|IGFBP1_ENST00000468955.1_Missense_Mutation_p.I155V NM_000596.2 NP_000587.1 P08833 IBP1_HUMAN insulin-like growth factor binding protein 1 155 extracellular space insulin-like growth factor binding large_intestine(2)|lung(4) 6 TTGGGACGCCATCAGTACCTA 0.522000 OREG0018048 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 69 48 0 0 1 0 0 ZNF439 90594 broad.mit.edu 37 19 11978839 11978839 + Missense_Mutation SNP A A C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:11978839A>C ENST00000304030.2 + 3 1155 c.955A>C c.(955-957)Acc>Ccc p.T319P ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.T183P NM_152262.2 NP_689475.1 Q8NDP4 ZN439_HUMAN zinc finger protein 439 319 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2) 27 ACATGAAAGGACCCACTCTAG 0.403000 12 143 0 0 1 0 0 INPP5F 22876 broad.mit.edu 37 10 121567513 121567513 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:121567513A>G ENST00000361976.2 + 13 1676 c.1510A>G c.(1510-1512)Atg>Gtg p.M504V NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 504 SAC. phosphoric ester hydrolase activity breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) CTACCAGATAATGTGGGCCAA 0.433000 50 46 0 0 1 0 0 DCTN1 1639 broad.mit.edu 37 2 74594524 74594524 + Silent SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:74594524G>T ENST00000361874.3 - 19 2525 c.2208C>A c.(2206-2208)gcC>gcA p.A736A DCTN1_ENST00000409868.1_Silent_p.A719A|DCTN1_ENST00000409240.1_Silent_p.A699A|DCTN1_ENST00000409567.3_Silent_p.A716A|DCTN1_ENST00000409438.1_Silent_p.A602A|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000407639.2_Silent_p.A602A|DCTN1_ENST00000394003.3_Silent_p.A729A NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 736 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 CAGGCTGTTCGGCAAGGTGGA 0.527000 8 39 0.000157383 0.000159809 1 1 0 LAMA2 3908 broad.mit.edu 37 6 129828766 129828766 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:129828766G>C ENST00000421865.2 + 62 8885 c.8836G>C c.(8836-8838)Gga>Cga p.G2946R NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2946 Laminin G-like 5. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ATATTTTGACGGAACCGGTTT 0.433000 50 166 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88799228 88799228 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr15:88799228G>A ENST00000394480.2 - 3 478 c.157C>T c.(157-159)Ctc>Ttc p.L53F NTRK3_ENST00000360948.2_Missense_Mutation_p.L53F|NTRK3_ENST00000357724.2_Missense_Mutation_p.L53F|NTRK3_ENST00000355254.2_Missense_Mutation_p.L53F|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000317501.3_Missense_Mutation_p.L53F|NTRK3_ENST00000558676.1_Missense_Mutation_p.L53F|NTRK3_ENST00000540489.2_Missense_Mutation_p.L53F|NTRK3_ENST00000557856.1_Missense_Mutation_p.L53F NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.L53I(3) ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) AGGGGGAAGAGGTTCCCATCG 0.547000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 21 58 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12856093 12856093 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:12856093C>A ENST00000332296.7 + 4 1476 c.1373C>A c.(1372-1374)cCt>cAt p.P458H PRAMEF1_ENST00000400814.3_Missense_Mutation_p.P213H NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 458 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACCCCCTGCCCTTCCTGTGGC 0.567000 52 339 5.80444e-35 6.60658e-35 1 1 0 NIFK 84365 broad.mit.edu 37 2 122488511 122488511 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:122488511C>T ENST00000285814.4 - 4 594 c.522G>A c.(520-522)aaG>aaA p.K174K NM_032390.4 NP_115766.3 Q9BYG3 MK67I_HUMAN 174 protein complex assembly|rRNA metabolic process|rRNA transcription condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1) 12 TAGCTAATTTCTTCCTGAGTA 0.383000 68 74 0 0 1 0 0 ZNF784 147808 broad.mit.edu 37 19 56133998 56133998 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:56133998C>T ENST00000325351.4 - 2 130 c.91G>A c.(91-93)Gat>Aat p.D31N ZNF784_ENST00000591479.1_Silent_p.*43* NM_203374.1 NP_976308.1 Q8NCA9 ZN784_HUMAN zinc finger protein 784 31 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1) 1 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CGGCAGTCATCAGGCACCAGG 0.627000 6 18 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3301786 3301786 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:3301786A>G ENST00000378398.3 + 4 591 c.509A>G c.(508-510)aAg>aGg p.K170R PRDM16_ENST00000511072.1_Missense_Mutation_p.K171R|PRDM16_ENST00000514189.1_Missense_Mutation_p.K171R|PRDM16_ENST00000441472.2_Missense_Mutation_p.K170R|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.K170R|PRDM16_ENST00000442529.2_Missense_Mutation_p.K170R|PRDM16_ENST00000270722.5_Missense_Mutation_p.K170R Q9HAZ2 PRD16_HUMAN PR domain containing 16 170 SET. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) AGCTGGCTCAAGTACATCCGT 0.587000 T EVI1 """MDS, AML""" 57 104 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138602348 138602348 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:138602348G>A ENST00000440172.1 - 2 2072 c.2024C>T c.(2023-2025)tCt>tTt p.S675F KIAA1549_ENST00000422774.1_Missense_Mutation_p.S675F|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S625F NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 675 Ser-rich. integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CAGATCACTAGAGTCAAACAA 0.483000 O BRAF pilocytic astrocytoma 20 33 0 0 1 0 0 ADAM15 8751 broad.mit.edu 37 1 155031187 155031187 + Splice_Site SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:155031187T>C ENST00000356955.2 + 16 2020 c.1919T>C c.(1918-1920)gTg>gCg p.V640A ADAM15_ENST00000359280.4_Splice_Site_p.V640A|ADAM15_ENST00000271836.6_Splice_Site_p.V640A|ADAM15_ENST00000360674.4_Splice_Site_p.V640A|ADAM15_ENST00000368413.1_Splice_Site_p.V346A|ADAM15_ENST00000368412.3_Splice_Site_p.V640A|ADAM15_ENST00000355956.2_Splice_Site_p.V640A|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368410.2_Splice_Site_p.V346A|ADAM15_ENST00000449910.2_Splice_Site_p.V640A|ADAM15_ENST00000531455.1_Splice_Site_p.V650A NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 640 Cys-rich. angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CTGGGTCAGGTGTGTATAGAC 0.547000 12 7 0 0 1 0 0 HLA-DOA 3111 broad.mit.edu 37 6 32975956 32975956 + Missense_Mutation SNP T T A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:32975956T>A ENST00000229829.5 - 2 240 c.165A>T c.(163-165)gaA>gaT p.E55D HLA-DOA_ENST00000450833.2_Missense_Mutation_p.E25D NM_002119.3 NP_002110.1 P06340 DOA_HUMAN major histocompatibility complex, class II, DO alpha 55 Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 9 AGAACAGCTGTTCCTCATCAA 0.597000 18 24 0 0 1 0 0 FTSJ2 29960 broad.mit.edu 37 7 2275018 2275018 + Silent SNP T T G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:2275018T>G ENST00000242257.8 - 3 508 c.480A>C c.(478-480)acA>acC p.T160T FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000407040.1_Silent_p.T66T NM_013393.1 NP_037525.1 Q9UI43 RRMJ2_HUMAN FtsJ RNA methyltransferase homolog 2 (E. coli) 160 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) CCCGGAACCCTGTGGCATTGG 0.582000 37 17 0 0 1 0 0 GHITM 27069 broad.mit.edu 37 10 85904642 85904642 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:85904642A>G ENST00000372134.3 + 5 546 c.353A>G c.(352-354)cAg>cGg p.Q118R NM_014394.2 NP_055209.2 Q9H3K2 GHITM_HUMAN growth hormone inducible transmembrane protein 118 Q -> R (in Ref. 4; CAB66648). apoptosis integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2) 10 ATTTGGCCTCAGTATGTCAAG 0.403000 21 73 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47605933 47605933 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr20:47605933C>T ENST00000371917.4 + 19 2645 c.2645C>T c.(2644-2646)aCc>aTc p.T882I NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 882 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) GCCCCGTTTACCAGTGCCACT 0.527000 17 65 0 0 1 0 0 TMEM206 55248 broad.mit.edu 37 1 212538619 212538619 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:212538619T>C ENST00000261455.4 - 8 1128 c.991A>G c.(991-993)Atg>Gtg p.M331V TMEM206_ENST00000535273.1_Missense_Mutation_p.M392V NM_018252.2 NP_060722.2 Q9H813 TM206_HUMAN transmembrane protein 206 331 integral to membrane breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 17 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) ATTTTGATCATCCATTTTATA 0.418000 83 24 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57960978 57960978 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:57960978C>T ENST00000455537.2 + 7 845 c.571C>T c.(571-573)Cgt>Tgt p.R191C KIF5A_ENST00000286452.5_Missense_Mutation_p.R102C NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 191 Kinesin-motor.|Microtubule-binding. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity p.R191C(1) breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 GAAATCAAATCGTCATGTGGC 0.507000 18 95 0 0 1 0 0 PCMTD1 115294 broad.mit.edu 37 8 52744034 52744034 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:52744034C>T ENST00000360540.5 - 6 1082 c.676G>A c.(676-678)Gat>Aat p.D226N PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.D150N|PCMTD1_ENST00000522514.1_Missense_Mutation_p.D226N NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 226 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) TTGCCATTATCATTCTTACTT 0.363000 13 38 0 0 1 0 0 ZFP36L2 678 broad.mit.edu 37 2 43452248 43452248 + Missense_Mutation SNP T T A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:43452248T>A ENST00000282388.3 - 2 988 c.695A>T c.(694-696)gAc>gTc p.D232V THADA_ENST00000330266.7_Intron NM_006887.4 NP_008818.3 P47974 TISD_HUMAN ZFP36 ring finger protein-like 2 232 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) GGCACGCAGGTCCCCGGAggc 0.706000 3 11 0 0 1 0 0 IFIT3 3437 broad.mit.edu 37 10 91099411 91099411 + Silent SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:91099411C>G ENST00000371818.4 + 2 1179 c.999C>G c.(997-999)tcC>tcG p.S333S IFIT3_ENST00000371811.4_Silent_p.S333S|LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron NM_001549.4 NP_001540.2 O14879 IFIT3_HUMAN interferon-induced protein with tetratricopeptide repeats 3 333 type I interferon-mediated signaling pathway protein binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1) 15 ATGCATACTCCGATCTCGCTG 0.433000 19 73 0 0 1 0 0 DPPA3 359787 broad.mit.edu 37 12 7864223 7864223 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:7864223C>T ENST00000345088.2 + 1 174 c.57C>T c.(55-57)acC>acT p.T19T NM_199286.2 NP_954980.1 Q6W0C5 DPPA3_HUMAN developmental pluripotency associated 3 19 cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2) 8 Kidney(36;0.0887) AAATGCTCACCGAAGAAAATT 0.483000 21 8 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248309250 248309250 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:248309250C>T ENST00000366476.1 + 1 801 c.801C>T c.(799-801)tcC>tcT p.S267S NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CTGATCGCTCCCCTATGCAGG 0.517000 177 47 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126723975 126723975 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:126723975G>A ENST00000251772.4 + 6 1786 c.1717G>A c.(1717-1719)Gtc>Atc p.V573I PLXNA1_ENST00000393409.2_Missense_Mutation_p.V596I Q9UIW2 PLXA1_HUMAN plexin A1 596 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CTCAGCTGGCGTCAACTGCTC 0.662000 6 32 0 0 1 0 0 GAS2L3 283431 broad.mit.edu 37 12 101018622 101018622 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:101018622A>G ENST00000537247.1 + 10 2681 c.1727A>G c.(1726-1728)gAt>gGt p.D576G GAS2L3_ENST00000539410.1_Missense_Mutation_p.D680G|GAS2L3_ENST00000547754.1_Missense_Mutation_p.D680G|GAS2L3_ENST00000266754.5_Missense_Mutation_p.D680G Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 680 cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 AAGGAAGATGATGACCATTAT 0.353000 11 44 0 0 1 0 0 GCNT4 51301 broad.mit.edu 37 5 74325346 74325346 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:74325346T>C ENST00000322348.4 - 1 1378 c.517A>G c.(517-519)Aaa>Gaa p.K173E NM_016591.2 NP_057675.1 Q9P109 GCNT4_HUMAN glucosaminyl (N-acetyl) transferase 4, core 2 173 protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) ATGGCAACTTTGAAGGTATCA 0.398000 70 105 0 0 1 0 0 MCM7 4176 broad.mit.edu 37 7 99690971 99690971 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:99690971G>C ENST00000303887.5 - 14 2547 c.1902C>G c.(1900-1902)atC>atG p.I634M MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Missense_Mutation_p.I458M NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 634 Interaction with ATRIP. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) CCATTAGCCTGATGGCTTCAT 0.507000 21 123 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7759119 7759119 + Missense_Mutation SNP G G A rs145873257 byFrequency TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr16:7759119G>A ENST00000340209.4 + 12 1369 c.1072G>A c.(1072-1074)Ggc>Agc p.G358S RBFOX1_ENST00000422070.4_Missense_Mutation_p.G396S|RBFOX1_ENST00000436368.2_Missense_Mutation_p.G374S|RBFOX1_ENST00000550418.1_Missense_Mutation_p.G353S|RBFOX1_ENST00000547338.1_Missense_Mutation_p.G353S|RBFOX1_ENST00000552089.1_Silent_p.T387T|RBFOX1_ENST00000355637.4_Silent_p.T391T|RBFOX1_ENST00000535565.2_Silent_p.T327T|RBFOX1_ENST00000547372.1_Silent_p.T413T|RBFOX1_ENST00000553186.1_Missense_Mutation_p.G326S|RBFOX1_ENST00000311745.5_Missense_Mutation_p.G374S Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 353 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 CCCCACCTACGGCGTTGGTGC 0.547000 23 52 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78316814 78316814 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr15:78316814C>G ENST00000409931.3 - 6 1225 c.1154G>C c.(1153-1155)cGg>cCg p.R385P TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R385P Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 385 intracellular protein binding|Rab GTPase activator activity breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 CTCACAGAGCCGGCTGCTTGT 0.552000 31 99 0 0 1 0 0 ANXA6 309 broad.mit.edu 37 5 150527459 150527459 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:150527459C>A ENST00000354546.5 - 2 231 c.4G>T c.(4-6)Gcc>Tcc p.A2S ANXA6_ENST00000521512.1_Missense_Mutation_p.A2S|ANXA6_ENST00000356496.5_Missense_Mutation_p.A2S|ANXA6_ENST00000377751.5_Missense_Mutation_p.A2S NM_001155.4 NP_001146.2 P08133 ANXA6_HUMAN annexin A6 2 melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding endometrium(2)|kidney(1)|lung(9) 12 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCTGGTTTGGCCATGGTCTCC 0.542000 3 14 0.115264 0.115654 1 1 0 RIN3 79890 broad.mit.edu 37 14 93118091 93118091 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr14:93118091T>C ENST00000216487.7 + 6 856 c.697T>C c.(697-699)Tgg>Cgg p.W233R RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 233 endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) TGACCGCCTGTGGTTTGTGAA 0.612000 84 16 0 0 1 0 0 RAB40B 10966 broad.mit.edu 37 17 80615888 80615888 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:80615888C>G ENST00000571995.1 - 6 819 c.688G>C c.(688-690)Ggc>Cgc p.G230R RAB40B_ENST00000538809.2_3'UTR|RAB40B_ENST00000269347.6_Missense_Mutation_p.G51R NM_006822.2 NP_006813.1 Q12829 RB40B_HUMAN RAB40B, member RAS oncogene family 230 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2) 10 Breast(20;0.00132)|all_neural(118;0.0952) all_cancers(8;0.072)|all_epithelial(8;0.139) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061) GCATTCAGGCCGTTGGCCATC 0.637000 29 158 0 0 1 0 0 RUNX1 861 broad.mit.edu 37 21 36252865 36252865 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr21:36252865C>G ENST00000344691.4 - 2 1993 c.416G>C c.(415-417)cGa>cCa p.R139P RUNX1_ENST00000399240.1_Missense_Mutation_p.R139P|RUNX1_ENST00000486278.2_Missense_Mutation_p.R142P|RUNX1_ENST00000325074.5_Missense_Mutation_p.R154P|RUNX1_ENST00000300305.3_Missense_Mutation_p.R166P|RUNX1_ENST00000437180.1_Missense_Mutation_p.R166P|RUNX1_ENST00000358356.5_Missense_Mutation_p.R139P NM_001001890.2 NP_001001890.1 Q01196 RUNX1_HUMAN runt-related transcription factor 1 139 Interaction with DNA.|Runt. R -> Q (in FPDMM). myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding p.R166Q(3)|p.R166_S167insSNR(1) breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 452 TCTTCCACTTCGACCGACAAA 0.433000 T """RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4""" """AML, preB- ALL, T-ALL""" 14 46 0 0 1 0 0 CKAP5 9793 broad.mit.edu 37 11 46810288 46810288 + Silent SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:46810288G>A ENST00000529230.1 - 16 1957 c.1911C>T c.(1909-1911)tgC>tgT p.C637C CKAP5_ENST00000415402.1_Silent_p.C637C|CKAP5_ENST00000354558.3_Silent_p.C637C|CKAP5_ENST00000312055.5_Silent_p.C637C Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 637 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 CTAATGCCTGGCATGGCATTT 0.348000 42 14 0 0 1 0 0 CD86 942 broad.mit.edu 37 3 121828142 121828142 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:121828142A>G ENST00000330540.2 + 5 850 c.734A>G c.(733-735)cAc>cGc p.H245R CD86_ENST00000393627.2_Missense_Mutation_p.H239R|CD86_ENST00000469710.1_Missense_Mutation_p.H163R|CD86_ENST00000493101.1_Missense_Mutation_p.H133R|CD86_ENST00000264468.5_Missense_Mutation_p.H32R NM_175862.4 NP_787058 P42081 CD86_HUMAN CD86 molecule 245 interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) CCCCCAGACCACATTCCTTGG 0.438000 82 131 0 0 1 0 0 BCAR3 8412 broad.mit.edu 37 1 94048113 94048113 + Silent SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:94048113G>A ENST00000370244.1 - 9 1719 c.1431C>T c.(1429-1431)atC>atT p.I477I BCAR3_ENST00000539242.1_Silent_p.I153I|BCAR3_ENST00000370243.1_Silent_p.I477I|BCAR3_ENST00000260502.6_Silent_p.I477I|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000370247.3_Silent_p.I386I NM_001261408.1 NP_001248337.1 O75815 BCAR3_HUMAN breast cancer anti-estrogen resistance 3 477 response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 25 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) catcatcaaggatcaagtagt 0.577000 9 15 0 0 1 0 0 KLHL24 54800 broad.mit.edu 37 3 183388990 183388990 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:183388990G>T ENST00000454652.2 + 7 1779 c.1393G>T c.(1393-1395)Gat>Tat p.D465Y KLHL24_ENST00000476808.1_Missense_Mutation_p.D465Y|KLHL24_ENST00000242810.6_Missense_Mutation_p.D465Y NM_017644.3 NP_060114.2 Q6TFL4 KLH24_HUMAN kelch-like family member 24 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) AGGACCTGATGATAATACTTG 0.413000 61 69 1.12357e-39 1.28131e-39 1 1 0 FPR1 2357 broad.mit.edu 37 19 52249860 52249860 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:52249860G>A ENST00000595042.1 - 3 529 c.388C>T c.(388-390)Cca>Tca p.P130S FPR1_ENST00000304748.4_Missense_Mutation_p.P130S NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 130 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) GTCCAGACTGGATGCAGGACG 0.542000 15 63 0 0 1 0 0 ZNF430 80264 broad.mit.edu 37 19 21240024 21240024 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:21240024C>A ENST00000261560.5 + 5 1091 c.910C>A c.(910-912)Ctt>Att p.L304I NM_001172671.1|NM_025189.3 NP_001166142.1|NP_079465.3 Q9H8G1 ZN430_HUMAN zinc finger protein 430 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 GTCCTCACACCTTACTACACA 0.408000 61 96 1.53716e-24 1.73625e-24 1 1 0 CELA3B 23436 broad.mit.edu 37 1 22304935 22304935 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:22304935C>T ENST00000337107.6 + 2 136 c.117C>T c.(115-117)agC>agT p.S39S NM_007352.2 NP_031378.1 P08861 CEL3B_HUMAN chymotrypsin-like elastase family, member 3B 39 Peptidase S1. cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 TCCCCTACAGCTGGCCCTGGC 0.607000 9 135 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29599997 29599997 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr13:29599997G>A ENST00000431530.3 + 1 1250 c.1192G>A c.(1192-1194)Gag>Aag p.E398K NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 388 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CAACCCAGGGGAGCAGGATTC 0.557000 12 37 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106810364 106810364 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:106810364C>A ENST00000526355.2 - 4 1496 c.1028G>T c.(1027-1029)gGg>gTg p.G343V GUCY1A2_ENST00000347596.2_Missense_Mutation_p.G343V|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.G343V NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) TAGACCTTCCCCCAACTGAAG 0.473000 9 13 1.12685e-05 1.1581e-05 1 1 0 FMO4 2329 broad.mit.edu 37 1 171300818 171300818 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:171300818A>G ENST00000367749.3 + 6 854 c.524A>G c.(523-525)gAg>gGg p.E175G FMO4_ENST00000462992.1_3'UTR NM_002022.1 NP_002013.1 P31512 FMO4_HUMAN flavin containing monooxygenase 4 175 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CATAGTCAAGAGTACAAGATC 0.448000 15 300 0 0 1 0 0 RPRM 56475 broad.mit.edu 37 2 154334879 154334879 + Silent SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:154334879G>A ENST00000325926.3 - 1 443 c.201C>T c.(199-201)ctC>ctT p.L67L AC012501.2_ENST00000424322.1_RNA NM_019845.2 NP_062819.1 Q9NS64 RPRM_HUMAN reprimo, TP53 dependent G2 arrest mediator candidate 67 cell cycle arrest cytoplasm|integral to membrane protein binding large_intestine(2)|lung(1)|prostate(1) 4 AGACCACGGTGAGTGAGAGCA 0.612000 24 26 0 0 1 0 0 EHD2 30846 broad.mit.edu 37 19 48229379 48229379 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:48229379C>G ENST00000263277.3 + 4 1064 c.813C>G c.(811-813)ttC>ttG p.F271L EHD2_ENST00000538399.1_Missense_Mutation_p.F135L|CTD-2571L23.8_ENST00000599924.1_lincRNA NM_014601.3 NP_055416.2 Q9NZN4 EHD2_HUMAN EH-domain containing 2 271 blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 19 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) GGCGCCTCTTCGAGCTGGAGG 0.701000 3 7 0 0 1 0 0 HDAC6 10013 broad.mit.edu 37 X 48666705 48666705 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chrX:48666705A>G ENST00000334136.5 + 10 956 c.778A>G c.(778-780)Aca>Gca p.T260A HDAC6_ENST00000413163.2_Missense_Mutation_p.T205A|HDAC6_ENST00000444343.2_Missense_Mutation_p.T274A|HDAC6_ENST00000376619.2_Missense_Mutation_p.T260A Q9UBN7 HDAC6_HUMAN histone deacetylase 6 260 Histone deacetylase 1. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) CGGTCAAGGAACACAGTTCAC 0.582000 8 2 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124720697 124720697 + Splice_Site SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:124720697T>C ENST00000311127.4 - 11 3583 c.3516A>G c.(3514-3516)agA>agG p.R1172R NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 1172 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 CCCTCTTACCTCTAAAGATCC 0.542000 20 12 0 0 1 0 0 ZNF251 90987 broad.mit.edu 37 8 145947939 145947939 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:145947939C>T ENST00000292562.7 - 5 1381 c.1106G>A c.(1105-1107)aGa>aAa p.R369K ZNF251_ENST00000524394.1_Intron NM_138367.1 NP_612376.1 Q9BRH9 ZN251_HUMAN zinc finger protein 251 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) AGTGTGAATTCTCTCATGCTG 0.493000 12 117 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702200 27702200 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:27702200T>C ENST00000438700.3 - 1 1097 c.980A>G c.(979-981)tAc>tGc p.Y327C NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 327 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GGTCTTCAGGTAGTACAGCAG 0.547000 48 94 0 0 1 0 0 TCEAL8 90843 broad.mit.edu 37 X 102508663 102508663 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chrX:102508663A>G ENST00000372685.3 - 3 481 c.245T>C c.(244-246)cTt>cCt p.L82P TCEAL8_ENST00000360000.4_Missense_Mutation_p.L82P NM_153333.2 NP_699164.1 Q8IYN2 TCAL8_HUMAN transcription elongation factor A (SII)-like 8 82 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus kidney(2)|lung(1)|ovary(1) 4 AAGCCTTTCAAGCTCATCTAC 0.468000 33 11 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73528731 73528731 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr15:73528731C>T ENST00000339362.5 + 9 1782 c.1335C>T c.(1333-1335)gtC>gtT p.V445V NEO1_ENST00000261908.6_Silent_p.V445V|NEO1_ENST00000558964.1_Silent_p.V445V|NEO1_ENST00000560262.1_Silent_p.V445V|NEO1_ENST00000560352.1_3'UTR Q92859 NEO1_HUMAN neogenin 1 445 Fibronectin type-III 1. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 CTCGGGATGTCGTGGCCTCCC 0.552000 4 87 0 0 1 0 0 EHD2 30846 broad.mit.edu 37 19 48244486 48244486 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:48244486G>T ENST00000263277.3 + 6 1680 c.1429G>T c.(1429-1431)Gtg>Ttg p.V477L EHD2_ENST00000538399.1_Missense_Mutation_p.V341L|EHD2_ENST00000540884.1_3'UTR NM_014601.3 NP_055416.2 Q9NZN4 EHD2_HUMAN EH-domain containing 2 477 EH. blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 19 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) GACCTGGATGGTGGGGACCAA 0.617000 11 58 6.40141e-05 6.54489e-05 1 1 0 KPTN 11133 broad.mit.edu 37 19 47984254 47984254 + Silent SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:47984254G>A ENST00000338134.3 - 5 593 c.486C>T c.(484-486)ctC>ctT p.L162L KPTN_ENST00000536339.1_5'UTR|KPTN_ENST00000595484.1_5'UTR NM_007059.2 NP_008990.2 Q9Y664 KPTN_HUMAN kaptin (actin binding protein) 162 actin filament organization|cellular component movement|sensory perception of sound actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium actin binding breast(1)|lung(3)|ovary(2)|pancreas(2) 8 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694) TCCCACTCAAGAGAAACACAG 0.562000 8 4 0 0 1 0 0 TBCD 6904 broad.mit.edu 37 17 80878471 80878471 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:80878471C>T ENST00000355528.4 + 24 2208 c.2078C>T c.(2077-2079)cCc>cTc p.P693L TBCD_ENST00000539345.2_Missense_Mutation_p.P693L NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 693 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) TCCAAAATGCCCTTTAGAGGT 0.333000 7 0 0 0 1 0 0 B3GALT4 8705 broad.mit.edu 37 6 33246010 33246010 + Missense_Mutation SNP T T A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:33246010T>A ENST00000451237.1 + 1 1094 c.814T>A c.(814-816)Tct>Act p.S272T NM_003782.3 NP_003773.1 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 272 protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 13 GCTGTCAGCGTCTGCTGTGCA 0.647000 14 47 0 0 1 0 0 GDI1 2664 broad.mit.edu 37 X 153670014 153670014 + Silent SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chrX:153670014G>A ENST00000447750.2 + 8 1199 c.864G>A c.(862-864)ccG>ccA p.P288P NM_001493.2 NP_001484.1 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 288 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 16 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCTACATCCCGGACCGTGTGC 0.577000 33 74 0 0 1 0 0 HSPH1 10808 broad.mit.edu 37 13 31724129 31724129 + Missense_Mutation SNP T T A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr13:31724129T>A ENST00000320027.5 - 8 1443 c.1099A>T c.(1099-1101)Aat>Tat p.N367Y HSPH1_ENST00000380405.4_Missense_Mutation_p.N367Y|HSPH1_ENST00000429785.2_Missense_Mutation_p.N186Y|HSPH1_ENST00000445273.2_Missense_Mutation_p.N369Y|HSPH1_ENST00000380406.5_Missense_Mutation_p.N326Y NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 367 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) TCATCTGCATTGAGTGTTGTG 0.428000 9 245 0 0 1 0 0 DNAI1 27019 broad.mit.edu 37 9 34512190 34512190 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr9:34512190C>T ENST00000242317.4 + 14 1566 c.1395C>T c.(1393-1395)ctC>ctT p.L465L NM_001281428.1|NM_012144.2 NP_001268357.1|NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 465 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) CTTGGACTCTCGTGAAGGTGC 0.517000 Kartagener syndrome 35 67 0 0 1 0 0 C11orf53 341032 broad.mit.edu 37 11 111154908 111154908 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:111154908G>A ENST00000280325.4 + 3 262 c.115G>A c.(115-117)Ggg>Agg p.G39R NM_198498.1 NP_940900.1 Q8IXP5 CK053_HUMAN chromosome 11 open reading frame 53 39 endometrium(1)|large_intestine(2)|lung(3)|skin(2) 8 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) CTCCAGCGTGGGGAAGCCGTT 0.567000 OREG0021325 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 108 42 0 0 1 0 0 FBXO38 81545 broad.mit.edu 37 5 147820706 147820706 + Silent SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:147820706A>G ENST00000340253.5 + 21 3462 c.3294A>G c.(3292-3294)ccA>ccG p.P1098P FBXO38_ENST00000513826.1_Silent_p.P853P|FBXO38_ENST00000394370.3_Silent_p.P1023P|FBXO38_ENST00000296701.6_Silent_p.P853P Q6PIJ6 FBX38_HUMAN F-box protein 38 1098 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGGAGCTCCATATTCCATGA 0.443000 41 50 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29599131 29599131 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr13:29599131G>C ENST00000431530.3 + 1 384 c.326G>C c.(325-327)aGa>aCa p.R109T NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 99 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 AAAGATTTTAGACTTTCTTCA 0.498000 32 68 0 0 1 0 0 SNX16 64089 broad.mit.edu 37 8 82715390 82715390 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:82715390T>C ENST00000396330.2 - 7 1261 c.755A>G c.(754-756)gAa>gGa p.E252G SNX16_ENST00000353788.4_Missense_Mutation_p.E223G|SNX16_ENST00000345957.4_Missense_Mutation_p.E252G|RP13-923O23.6_ENST00000524337.1_RNA NM_022133.3 NP_071416.2 P57768 SNX16_HUMAN sorting nexin 16 252 cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome identical protein binding|phosphatidylinositol binding large_intestine(1)|ovary(1)|pancreas(1)|skin(2) 5 CTTTAGTGATTCCATCTCCTT 0.338000 27 98 0 0 1 0 0 UGT1A1 54658 broad.mit.edu 37 2 234622089 234622089 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:234622089C>G ENST00000608381.1 + 1 452 c.452C>G c.(451-453)aCa>aGa p.T151R UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Missense_Mutation_p.T151R|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron NM_019078.1 NP_061951.1 P22309 UD11_HUMAN bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) GTGGTTCTAACAGACCCCTTT 0.468000 113 211 0 0 1 0 0 STMN3 50861 broad.mit.edu 37 20 62273536 62273536 + Silent SNP G G C rs149816800 TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr20:62273536G>C ENST00000370053.1 - 4 489 c.408C>G c.(406-408)ctC>ctG p.L136L STMN3_ENST00000540534.1_Silent_p.L125L NM_001276310.1|NM_015894.2 NP_001263239.1|NP_056978.2 Q9NZ72 STMN3_HUMAN stathmin-like 3 136 cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity cytoplasm protein domain specific binding kidney(1)|large_intestine(1)|lung(5)|prostate(1) 8 all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13) Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559) TCTTGTAGTTGAGCTTCTCCT 0.682000 6 25 0 0 1 0 0 LETM2 137994 broad.mit.edu 37 8 38261979 38261979 + Silent SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:38261979G>C ENST00000379957.4 + 8 1300 c.1173G>C c.(1171-1173)ctG>ctC p.L391L LETM2_ENST00000527710.1_Silent_p.L177L|LETM2_ENST00000524874.1_Silent_p.L343L|LETM2_ENST00000297720.5_Silent_p.L296L|LETM2_ENST00000523983.2_Silent_p.L344L|LETM2_ENST00000528827.1_3'UTR NM_001199659.1 NP_001186588.1 Q2VYF4 LETM2_HUMAN leucine zipper-EF-hand containing transmembrane protein 2 391 integral to membrane|mitochondrial inner membrane NS(1)|large_intestine(1)|lung(3)|prostate(2) 7 all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202) all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175) Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114) CCTTCTACCTGATAGATGTGA 0.567000 10 437 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 984806 984806 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:984806G>A ENST00000379370.2 + 25 4539 c.4489G>A c.(4489-4491)Ggc>Agc p.G1497S NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 1497 Laminin G-like 1. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CTTTGTGGGCGGCGTACCCGA 0.682000 5 46 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28737513 28737513 + Missense_Mutation SNP A A C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr18:28737513A>C ENST00000257197.3 - 3 433 c.172T>G c.(172-174)Tcg>Gcg p.S58A RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.S58A NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 58 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) AGGCTGGCCGACTTGAGACAC 0.453000 19 42 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23543998 23543998 + Missense_Mutation SNP T T A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:23543998T>A ENST00000300619.7 - 4 1988 c.1783A>T c.(1783-1785)Att>Ttt p.I595F ZNF91_ENST00000397082.2_Missense_Mutation_p.I563F|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 595 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CCAGTATGAATTATCTTATGT 0.358000 21 93 0 0 1 0 0 INCENP 3619 broad.mit.edu 37 11 61897938 61897938 + Silent SNP G G A rs139799131 TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:61897938G>A ENST00000394818.3 + 4 1141 c.939G>A c.(937-939)ccG>ccA p.P313P INCENP_ENST00000278849.4_Silent_p.P313P NM_001040694.1 NP_001035784.1 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 313 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 CGTCTTCCCCGAGTCCCCAAG 0.622000 6 113 0 0 1 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65346752 65346752 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:65346752C>T ENST00000284037.5 + 20 2434 c.2045C>T c.(2044-2046)tCt>tTt p.S682F ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S682F|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S678F|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S682F|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S682F|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S682F|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S682F|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S682F|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S682F NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 682 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) TCACTCTGCTCTCCAGTGAAA 0.343000 26 47 0 0 1 0 0 AS3MT 57412 broad.mit.edu 37 10 104636743 104636743 + Silent SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:104636743T>C ENST00000369880.3 + 7 638 c.561T>C c.(559-561)taT>taC p.Y187Y C10orf32-ASMT_ENST00000299353.6_3'UTR NM_020682.3 NP_065733.2 Q9HBK9 AS3MT_HUMAN arsenic (+3 oxidation state) methyltransferase 187 arsonoacetate metabolic process|toxin metabolic process cytosol arsenite methyltransferase activity|methylarsonite methyltransferase activity large_intestine(1)|lung(6) 7 Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223) GTGACGTCTATACGAGCCTTG 0.383000 106 66 0 0 1 0 0 CD300LF 146722 broad.mit.edu 37 17 72694561 72694561 + Missense_Mutation SNP A A C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:72694561A>C ENST00000326165.6 - 4 617 c.506T>G c.(505-507)cTt>cGt p.L169R CD300LF_ENST00000464910.1_Missense_Mutation_p.L172R|CD300LF_ENST00000361254.4_Missense_Mutation_p.L187R|CD300LF_ENST00000301573.9_Silent_p.A184A|CD300LF_ENST00000469092.1_Intron|CD300LF_ENST00000581500.1_Missense_Mutation_p.L187R|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000583937.1_Missense_Mutation_p.L184R|CD300LF_ENST00000343125.4_Intron|RAB37_ENST00000402449.4_Intron NM_139018.3 NP_620587.2 Q8TDQ1 CLM1_HUMAN CD300 molecule-like family member f 169 integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GGCCACCAAAAGCAGCAGCAA 0.587000 3 19 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183658112 183658112 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr4:183658112T>C ENST00000511685.1 + 17 3242 c.3119T>C c.(3118-3120)gTa>gCa p.V1040A TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.V1040A teneurin transmembrane protein 3 ATGGTAGCTGTAGTAGGAAGA 0.388000 37 59 0 0 1 0 0 FBXO11 80204 broad.mit.edu 37 2 48050450 48050450 + Missense_Mutation SNP T T A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:48050450T>A ENST00000403359.3 - 12 1520 c.1448A>T c.(1447-1449)gAa>gTa p.E483V FBXO11_ENST00000316377.4_Missense_Mutation_p.E399V|FBXO11_ENST00000402508.1_Missense_Mutation_p.E399V|FBXO11_ENST00000434523.2_5'UTR NM_001190274.1 NP_001177203.1 Q86XK2 FBX11_HUMAN F-box protein 11 483 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.0?(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GGCTTTTACTTCAAAGCCTGC 0.358000 """Mis, F, D""" DLBCL 39 59 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 4 92 0.00909568 0.00915745 1 1 0 TLN1 7094 broad.mit.edu 37 9 35717692 35717692 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr9:35717692G>A ENST00000314888.9 - 18 2440 c.2087C>T c.(2086-2088)tCg>tTg p.S696L TLN1_ENST00000540444.1_Missense_Mutation_p.S696L NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 696 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CTGAAGTCCCGAGTCCTCTGT 0.562000 17 93 0 0 1 0 0 C17orf70 80233 broad.mit.edu 37 17 79514630 79514630 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:79514630C>T ENST00000537152.1 - 5 1550 c.1025G>A c.(1024-1026)aGc>aAc p.S342N C17orf70_ENST00000327787.8_Missense_Mutation_p.S493N|C17orf70_ENST00000425898.2_Missense_Mutation_p.S142N NM_025161.5 NP_079437.5 Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 493 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) CAGTGCACAGCTCACGTTCAT 0.607000 59 32 0 0 1 0 0 MIR410 574434 broad.mit.edu 37 14 101532328 101532328 + RNA SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr14:101532328C>T ENST00000362222.2 + 0 80 NR_030156.1 TTTTCAGTACCGCTACCGCCC 0.537000 40 13 0 0 1 0 0 GINM1 116254 broad.mit.edu 37 6 149901756 149901756 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:149901756G>T ENST00000367419.5 + 6 735 c.614G>T c.(613-615)aGc>aTc p.S205I NM_138785.3 NP_620140.1 glycoprotein integral membrane 1 CAAACCACTAGCCAGTATCTT 0.428000 31 53 6.00712e-18 6.68335e-18 1 1 0 IGSF10 285313 broad.mit.edu 37 3 151163601 151163601 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:151163601C>T ENST00000282466.3 - 4 4167 c.4168G>A c.(4168-4170)Gtc>Atc p.V1390I NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1390 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AATGCAGAGACACTGGGCTTG 0.453000 68 127 0 0 1 0 0 C11orf42 160298 broad.mit.edu 37 11 6231218 6231218 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:6231218C>T ENST00000316375.2 + 2 261 c.211C>T c.(211-213)Cgg>Tgg p.R71W NM_173525.2 NP_775796.2 Q8N5U0 CK042_HUMAN chromosome 11 open reading frame 42 71 endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCGGCAGGGCCGGAGGGCACT 0.612000 36 8 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49758232 49758232 + Splice_Site SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:49758232G>A ENST00000327697.6 + 37 3787 c.e37-1 RNF123_ENST00000433785.1_Splice_Site|GMPPB_ENST00000308375.6_3'UTR|AMIGO3_ENST00000535833.1_5'UTR|RNF123_ENST00000497099.1_Splice_Site|GMPPB_ENST00000480687.1_3'UTR NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) CCACTCCCCAGATGCGGATTA 0.557000 53 33 0 0 1 0 0 ZNF33B 7582 broad.mit.edu 37 10 43088841 43088841 + Silent SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:43088841A>G ENST00000359467.3 - 5 1671 c.1557T>C c.(1555-1557)caT>caC p.H519H ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 519 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 TCAACCCTGTATGAATTATCT 0.413000 79 23 0 0 1 0 0 WDR62 284403 broad.mit.edu 37 19 36558747 36558747 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:36558747C>T ENST00000401500.2 + 7 752 c.717C>T c.(715-717)ccC>ccT p.P239P WDR62_ENST00000270301.7_Silent_p.P239P|WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000388999.3_Silent_p.P239P NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 239 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCACAGTGCCCCTTGTAGGGC 0.597000 27 52 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83843994 83843994 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:83843994G>A ENST00000349129.2 + 19 3118 c.2858G>A c.(2857-2859)cGt>cAt p.R953H DOPEY1_ENST00000369739.3_Missense_Mutation_p.R944H|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R934H NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 953 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TCTTTTGTACGTTCTTTTGAC 0.363000 16 14 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47809062 47809062 + Silent SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr4:47809062G>T ENST00000273857.4 - 2 65 c.66C>A c.(64-66)gtC>gtA p.V22V CORIN_ENST00000505909.1_Silent_p.V22V|CORIN_ENST00000504584.1_Silent_p.V22V|CORIN_ENST00000502252.1_Silent_p.V22V NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 22 peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 CAGCTCTCAAGACCTAAAGTA 0.408000 24 40 2.32416e-17 2.57132e-17 1 1 0 ELMOD3 84173 broad.mit.edu 37 2 85604591 85604591 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:85604591C>T ENST00000315658.7 + 9 991 c.732C>T c.(730-732)caC>caT p.H244H ELMOD3_ENST00000409890.2_Silent_p.H244H|ELMOD3_ENST00000409013.3_Silent_p.H244H|ELMOD3_ENST00000409344.3_Silent_p.H244H|ELMOD3_ENST00000393852.4_Silent_p.H244H|ELMOD3_ENST00000428955.2_Silent_p.H244H|ELMOD3_ENST00000490508.1_3'UTR NM_032213.4 NP_115589.2 Q96FG2 ELMD3_HUMAN ELMO/CED-12 domain containing 3 244 ELMO. phagocytosis cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 12 CTCGTCACCACATCCAGGTGA 0.587000 17 16 0 0 1 0 0 GNAI1 2770 broad.mit.edu 37 7 79846722 79846722 + Silent SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:79846722C>G ENST00000351004.3 + 8 1351 c.978C>G c.(976-978)gcC>gcG p.A326A GNAI1_ENST00000457358.2_Silent_p.A274A NM_002069.5 NP_002060.4 P63096 GNAI1_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 326 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody|nucleus G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 19 TCACATGTGCCACAGATACTA 0.343000 17 75 0 0 1 0 0 DOT1L 84444 broad.mit.edu 37 19 2191215 2191215 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:2191215G>A ENST00000398665.3 + 5 505 c.469G>A c.(469-471)Gac>Aac p.D157N NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 157 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 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) GACCGACGACGACCTGTTTGT 0.617000 14 41 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12903775 12903775 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chrX:12903775G>T ENST00000380659.3 + 3 287 c.148G>T c.(148-150)Gac>Tac p.D50Y NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 50 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) TGTGATCGTGGACTGCACAGA 0.468000 46 22 6.21074e-16 6.80771e-16 1 1 0 DICER1 23405 broad.mit.edu 37 14 95556946 95556946 + Silent SNP T T A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr14:95556946T>A ENST00000526495.1 - 29 5949 c.5658A>T c.(5656-5658)ggA>ggT p.G1886G DICER1_ENST00000541352.1_3'UTR|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000393063.1_Silent_p.G1886G|DICER1_ENST00000527414.1_Silent_p.G1886G|DICER1_ENST00000343455.3_Silent_p.G1886G|DICER1_ENST00000556045.1_Silent_p.G784G Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1886 DRBM. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) ATTTCCCCTTTCCTACTACTT 0.448000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 228 53 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52564861 52564861 + Silent SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr15:52564861T>C ENST00000261839.7 - 6 827 c.666A>G c.(664-666)acA>acG p.T222T MYO5C_ENST00000541028.1_5'UTR|MYO5C_ENST00000443683.2_Silent_p.T165T NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 222 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) AACTGATTTCTGTGTATTTCC 0.353000 24 37 0 0 1 0 0 WNT9B 7484 broad.mit.edu 37 17 44953616 44953616 + Silent SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:44953616G>A ENST00000393461.2 + 4 659 c.606G>A c.(604-606)gtG>gtA p.V202V WNT9B_ENST00000290015.2_Silent_p.V202V O14905 WNT9B_HUMAN wingless-type MMTV integration site family, member 9B 202 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding large_intestine(2)|lung(8) 10 BRCA - Breast invasive adenocarcinoma(9;0.0257) CACAGGCTGTGAAGAGTGGCC 0.672000 11 14 0 0 1 0 0 PARD6B 84612 broad.mit.edu 37 20 49366789 49366789 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr20:49366789G>T ENST00000371610.2 + 3 1126 c.883G>T c.(883-885)Gac>Tac p.D295Y PARD6B_ENST00000396039.1_Intron NM_032521.2 NP_115910.1 Q9BYG5 PAR6B_HUMAN par-6 family cell polarity regulator beta 295 axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly cytosol|tight junction protein binding NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1) 11 CGAAGAAGATGACATTATCAT 0.453000 16 173 2.62699e-14 2.83753e-14 1 1 0 CALB1 793 broad.mit.edu 37 8 91072500 91072500 + Silent SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:91072500A>G ENST00000265431.3 - 11 868 c.687T>C c.(685-687)aaT>aaC p.N229N CALB1_ENST00000518457.1_Silent_p.N172N NM_004929.2 NP_004920.1 P05937 CALB1_HUMAN calbindin 1, 28kDa 229 nucleus calcium ion binding|vitamin D binding breast(1)|kidney(1)|lung(8)|pancreas(1) 11 BRCA - Breast invasive adenocarcinoma(11;0.00953) TTGTAATATTATTAATATCCA 0.358000 54 43 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48794547 48794547 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:48794547C>T ENST00000314191.2 - 38 4941 c.4885G>A c.(4885-4887)Gat>Aat p.D1629N PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.D1629N NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1630 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CACCATGAATCACACTTCTTC 0.443000 Non-homologous end-joining 31 29 0 0 1 0 0 MMP2 4313 broad.mit.edu 37 16 55516927 55516927 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr16:55516927G>T ENST00000219070.4 + 2 769 c.260G>T c.(259-261)gGt>gTt p.G87V MMP2_ENST00000437642.2_Missense_Mutation_p.G37V|MMP2_ENST00000543485.1_Missense_Mutation_p.G11V|MMP2_ENST00000570308.1_Missense_Mutation_p.G11V NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 87 angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) CCCCAGACAGGTGATCTTGAC 0.537000 7 106 0.0293803 0.0295297 1 1 0 IGDCC4 57722 broad.mit.edu 37 15 65677378 65677378 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr15:65677378G>A ENST00000352385.2 - 19 3465 c.3256C>T c.(3256-3258)Cgg>Tgg p.R1086W IGDCC4_ENST00000558048.1_5'UTR NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1086 integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 AGAGCCGGCCGGGGGCCTGCC 0.677000 OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 41 0 0 1 0 0 CASP7 840 broad.mit.edu 37 10 115480800 115480800 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:115480800G>C ENST00000369321.2 + 4 539 c.219G>C c.(217-219)aaG>aaC p.K73N CASP7_ENST00000369315.1_Missense_Mutation_p.K40N|CASP7_ENST00000369318.3_Missense_Mutation_p.K40N|CASP7_ENST00000369331.4_Missense_Mutation_p.K40N|CASP7_ENST00000468790.1_3'UTR|CASP7_ENST00000452490.2_Missense_Mutation_p.K15N|CASP7_ENST00000345633.4_Missense_Mutation_p.K40N NM_033338.5 NP_203124.1 P55210 CASP7_HUMAN caspase 7, apoptosis-related cysteine peptidase 40 activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm cysteine-type endopeptidase activity|protein binding kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Colorectal(252;0.0946)|Breast(234;0.188) Epithelial(162;0.012)|all cancers(201;0.014) GTAAGAAGAAGAAAAATGTCA 0.423000 61 67 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75704264 75704264 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:75704264C>G ENST00000370855.5 - 10 703 c.590G>C c.(589-591)aGt>aCt p.S197T SLC44A5_ENST00000535611.1_Missense_Mutation_p.S67T|SLC44A5_ENST00000370859.3_Missense_Mutation_p.S197T NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 197 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 CATCATCTTACTTCCTATTGT 0.328000 16 33 0 0 1 0 0 COX7B 1349 broad.mit.edu 37 X 77160727 77160727 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chrX:77160727G>A ENST00000481445.1 + 3 328 c.212G>A c.(211-213)aGa>aAa p.R71K NM_001866.2 NP_001857.1 P24311 COX7B_HUMAN cytochrome c oxidase subunit VIIb 71 respiratory electron transport chain integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity endometrium(2) 2 CCTGTTGGCAGAGTTACCCCA 0.398000 41 15 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147336399 147336399 + Splice_Site SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:147336399G>A ENST00000361727.3 + 13 2614 c.e13+1 NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AACACCCCAGGTAGGCTGAGA 0.438000 HNSCC(39;0.1) 16 33 0 0 1 0 0 ARL13A 392509 broad.mit.edu 37 X 100240783 100240783 + Silent SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chrX:100240783T>C ENST00000450049.2 + 4 371 c.258T>C c.(256-258)taT>taC p.Y86Y NM_001162491.1 NP_001155963.1 Q5H913 AR13A_HUMAN ADP-ribosylation factor-like 13A 86 GTP binding endometrium(1)|ovary(1) 2 CAAACTACTATGCACAGGCCC 0.458000 12 3 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56405207 56405207 + Silent SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:56405207A>G ENST00000355701.3 - 1 945 c.75T>C c.(73-75)caT>caC p.H25H BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1_ENST00000268893.6_Silent_p.H25H|BZRAP1_ENST00000343736.4_Silent_p.H25H NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 25 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GAGTCCAGCTATGCCAGGTGG 0.632000 8 32 0 0 1 0 0 STAMBPL1 57559 broad.mit.edu 37 10 90682973 90682973 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:90682973C>A ENST00000371926.3 + 11 2261 c.1303C>A c.(1303-1305)Ctg>Atg p.L435M STAMBPL1_ENST00000371922.1_Missense_Mutation_p.L269M|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.L435M|STAMBPL1_ENST00000371927.3_Intron NM_020799.3 NP_065850.1 Q96FJ0 STALP_HUMAN STAM binding protein-like 1 435 metal ion binding|metallopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1) 11 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) TGTGTTGGATCTGAGGTGATA 0.348000 7 35 8.12818e-05 8.29606e-05 1 1 0 FCHO1 23149 broad.mit.edu 37 19 17881377 17881377 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:17881377G>C ENST00000594202.1 + 8 759 c.480G>C c.(478-480)gaG>gaC p.E160D FCHO1_ENST00000596536.1_Missense_Mutation_p.E160D|FCHO1_ENST00000595033.1_Missense_Mutation_p.E110D|FCHO1_ENST00000596951.1_Missense_Mutation_p.E160D|FCHO1_ENST00000600676.1_Missense_Mutation_p.E160D|FCHO1_ENST00000539407.1_Missense_Mutation_p.E160D|FCHO1_ENST00000252771.7_Missense_Mutation_p.E160D|FCHO1_ENST00000597512.1_Missense_Mutation_p.E167D|FCHO1_ENST00000389133.4_Missense_Mutation_p.E160D NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 160 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 GCCAGAAGGAGATGGACAAGG 0.632000 8 27 0 0 1 0 0 FAM3C 10447 broad.mit.edu 37 7 120991195 120991195 + Splice_Site SNP A A T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:120991195A>T ENST00000359943.3 - 9 808 c.e9+1 NM_001040020.1|NM_014888.2 NP_001035109.1|NP_055703.1 Q92520 FAM3C_HUMAN family with sequence similarity 3, member C multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity kidney(1)|lung(8) 9 all_neural(327;0.117) TATGACACTAACCTGTTCAAA 0.388000 25 73 0 0 1 0 0 TUBB 203068 broad.mit.edu 37 6 30691666 30691666 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:30691666G>A ENST00000396389.1 + 4 1366 c.773G>A c.(772-774)cGt>cAt p.R258H TUBB_ENST00000327892.8_Missense_Mutation_p.R276H|TUBB_ENST00000396384.1_Missense_Mutation_p.R204H|TUBB_ENST00000330914.3_Missense_Mutation_p.R204H|TUBB_ENST00000435534.1_Intron P07437 TBB5_HUMAN tubulin, beta class I 276 cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1) 16 Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361) CTCACCAGCCGTGGAAGCCAG 0.597000 10 90 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 94120437 94120437 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:94120437C>A ENST00000369303.4 - 3 798 c.614G>T c.(613-615)tGc>tTc p.C205F EPHA7_ENST00000369297.1_Missense_Mutation_p.C205F NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 205 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) AATGGACCAGCACTTCTTGTA 0.433000 18 21 8.00594e-06 8.25656e-06 1 1 0 CDK6 1021 broad.mit.edu 37 7 92462443 92462443 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:92462443C>T ENST00000265734.4 - 2 606 c.195G>A c.(193-195)ctG>ctA p.L65L CDK6_ENST00000424848.2_Silent_p.L65L NM_001259.6 NP_001250.1 Q00534 CDK6_HUMAN cyclin-dependent kinase 6 65 Protein kinase. cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle ATP binding|cyclin binding|cyclin-dependent protein kinase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 11 all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CCAGGTGCCTCAGCACCGCCA 0.706000 T MLLT10 ALL OREG0018165 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 5 0 0 1 0 0 FANCA 2175 broad.mit.edu 37 16 89816263 89816263 + Silent SNP G G A rs55758861 by1000genomes TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr16:89816263G>A ENST00000389301.3 - 32 3144 c.3114C>T c.(3112-3114)ctC>ctT p.L1038L FANCA_ENST00000568369.1_Silent_p.L1038L NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 1038 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) GGGTGTGGCCGAGAGGCACTA 0.602000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 63 9 0 0 1 0 0 KRTAP3-2 83897 broad.mit.edu 37 17 39155922 39155922 + Missense_Mutation SNP C C T rs147430362 TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:39155922C>T ENST00000391587.1 - 1 216 c.184G>A c.(184-186)Gtg>Atg p.V62M NM_031959.2 NP_114165.1 Q9BYR7 KRA32_HUMAN keratin associated protein 3-2 62 keratin filament structural molecule activity endometrium(1)|large_intestine(1)|lung(1) 3 Breast(137;0.00043) CAGGTGGGCACGCAGGGCTGA 0.632000 9 26 0 0 1 0 0 CNGA2 1260 broad.mit.edu 37 X 150912130 150912130 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chrX:150912130C>A ENST00000329903.4 + 6 1188 c.1155C>A c.(1153-1155)ttC>ttA p.F385L NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 385 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) GGGCAGAGTTCCAGGCTAAGA 0.507000 27 81 1.5548e-18 1.73308e-18 1 1 0 CTTNBP2 83992 broad.mit.edu 37 7 117359624 117359624 + Missense_Mutation SNP G G C rs142195236 TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:117359624G>C ENST00000160373.3 - 21 4669 c.4578C>G c.(4576-4578)gaC>gaG p.D1526E NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1526 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GATCTGCTTCGTCATCTGAAC 0.433000 22 68 0 0 1 0 0 NSMF 26012 broad.mit.edu 37 9 140344413 140344413 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr9:140344413T>C ENST00000371475.3 - 14 1612 c.1381A>G c.(1381-1383)Atg>Gtg p.M461V NSMF_ENST00000339554.3_Missense_Mutation_p.M258V|NSMF_ENST00000371472.2_Missense_Mutation_p.M459V|NSMF_ENST00000371482.1_Missense_Mutation_p.M125V|NSMF_ENST00000541195.1_Missense_Mutation_p.M258V|NSMF_ENST00000437259.1_Missense_Mutation_p.M438V|NSMF_ENST00000371473.3_Missense_Mutation_p.M431V|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000371474.3_Missense_Mutation_p.M436V|NSMF_ENST00000392812.4_Missense_Mutation_p.M438V|NSMF_ENST00000265663.7_Missense_Mutation_p.M459V NM_001130969.1 NP_001124441.1 NMDA receptor synaptonuclear signaling and neuronal migration factor TAGCAGCCCATGATGTGGATG 0.617000 6 118 0 0 1 0 0 CDK13 8621 broad.mit.edu 37 7 40027399 40027399 + Silent SNP G G A rs144712960 TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:40027399G>A ENST00000181839.4 + 2 2018 c.1413G>A c.(1411-1413)gcG>gcA p.A471A CDK13_ENST00000340829.5_Silent_p.A471A NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 471 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 cagaagcagcgaaagctgcag 0.502000 15 33 0 0 1 0 0 U2AF1 7307 broad.mit.edu 37 21 44527576 44527576 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr21:44527576C>G ENST00000291552.4 - 1 121 c.29G>C c.(28-30)gGc>gCc p.G10A U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.G10A|U2AF1_ENST00000398137.1_5'UTR NM_006758.2 NP_006749.1 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxiliary factor 1 10 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 126 TTTCTCGGTGCCGAAGATGGA 0.731000 Mis """CLL, MDS""" 10 13 0 0 1 0 0 NANOGP1 404635 broad.mit.edu 37 12 8050941 8050941 + RNA SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:8050941G>C ENST00000607111.1 + 0 344 kidney(1)|lung(4)|prostate(1) 6 gcaatggtgtgacgcaggtaa 0.433000 7 11 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55142521 55142521 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:55142521C>T ENST00000427581.2 + 1 438 c.105C>T c.(103-105)gaC>gaT p.D35D LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396331.1_5'UTR|LILRB1_ENST00000396327.3_5'UTR|LILRB1_ENST00000324602.7_5'UTR|LILRB1_ENST00000396332.4_5'UTR|LILRB1_ENST00000434867.2_5'UTR|LILRB1_ENST00000396321.2_Intron Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 0 Ig-like C2-type 1. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) TGGGAGGAGACGCCATGACCC 0.582000 HNSCC(37;0.09) 11 74 0 0 1 0 0 SP1 6667 broad.mit.edu 37 12 53776268 53776268 + Missense_Mutation SNP C C A rs137863838 TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:53776268C>A ENST00000426431.2 + 3 576 c.516C>A c.(514-516)ttC>ttA p.F172L SP1_ENST00000327443.4_Missense_Mutation_p.F179L NM_003109.1 NP_003100.1 P08047 SP1_HUMAN Sp1 transcription factor 179 Transactivation domain A (Gln-rich). positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.00527) TCCCACAGTTCCAGACCGTTG 0.502000 50 109 3.19069e-20 3.5767e-20 1 1 0 LRP1 4035 broad.mit.edu 37 12 57589711 57589711 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:57589711T>C ENST00000243077.3 + 54 9092 c.8626T>C c.(8626-8628)Tgg>Cgg p.W2876R NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2876 LDL-receptor class A 19. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTCCCGCCAGTGGGAGTGTGA 0.647000 24 34 0 0 1 0 0 SIDT1 54847 broad.mit.edu 37 3 113252066 113252066 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:113252066C>A ENST00000264852.4 + 1 924 c.198C>A c.(196-198)ttC>ttA p.F66L SIDT1_ENST00000393830.3_Missense_Mutation_p.F66L NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 66 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 TCTACTCTTTCAACTACACCA 0.622000 3 22 0.00909568 0.00915745 1 1 0 MORC3 23515 broad.mit.edu 37 21 37741563 37741563 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr21:37741563G>T ENST00000400485.1 + 15 1973 c.1897G>T c.(1897-1899)Gac>Tac p.D633Y MORC3_ENST00000487909.1_3'UTR NM_015358.2 NP_056173.1 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 633 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 ATCCCGATGCGACCAGGGAAA 0.458000 23 90 8.04996e-18 8.93937e-18 1 1 0 MAP4K2 5871 broad.mit.edu 37 11 64564142 64564142 + Silent SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:64564142G>A ENST00000294066.2 - 22 1627 c.1536C>T c.(1534-1536)ctC>ctT p.L512L MAP4K2_ENST00000377350.3_Silent_p.L504L NM_004579.3 NP_004570.2 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase kinase 2 512 CNH. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2) 8 CATGCAGGTTGAGTGTGTAGA 0.632000 45 45 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39500223 39500223 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:39500223C>T ENST00000518318.2 + 9 1522 c.1480C>T c.(1480-1482)Cgg>Tgg p.R494W POU6F2_ENST00000403058.1_Missense_Mutation_p.R494W|POU6F2_ENST00000559001.1_Missense_Mutation_p.R439W P78424 PO6F2_HUMAN POU class 6 homeobox 2 494 POU-specific. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 TTTTAAAATCCGGCGCCTGTC 0.552000 5 12 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10465361 10465361 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:10465361C>T ENST00000382483.3 - 4 6470 c.6247G>A c.(6247-6249)Gaa>Aaa p.E2083K NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 2083 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TCTACATCTTCTGACTCTGGG 0.627000 45 125 0 0 1 0 0 SLC2A6 11182 broad.mit.edu 37 9 136341446 136341446 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr9:136341446C>T ENST00000371899.4 - 4 552 c.475G>A c.(475-477)Gag>Aag p.E159K SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.E159K NM_017585.3 NP_060055.2 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose transporter), member 6 159 integral to membrane|plasma membrane D-glucose transmembrane transporter activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) GGAGCAATCTCAGACACGTAC 0.622000 23 10 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182850748 182850748 + Silent SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:182850748C>G ENST00000367549.3 + 24 2990 c.2880C>G c.(2878-2880)ctC>ctG p.L960L DHX9_ENST00000485081.1_3'UTR NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 960 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 AAGTTCAGCTCAAAGAGATTT 0.348000 32 106 0 0 1 0 0 STAP1 26228 broad.mit.edu 37 4 68436864 68436864 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr4:68436864G>T ENST00000265404.2 + 2 265 c.183G>T c.(181-183)aaG>aaT p.K61N STAP1_ENST00000396225.1_Missense_Mutation_p.K61N NM_012108.2 NP_036240.1 Q9ULZ2 STAP1_HUMAN signal transducing adaptor family member 1 61 PH. cellular membrane fusion|intracellular protein transport cytoplasm NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 12 CCGACAAAAAGAGTATAATAG 0.338000 41 172 2.45108e-15 2.66695e-15 1 1 0 PCDHB15 56121 broad.mit.edu 37 5 140625549 140625549 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:140625549G>A ENST00000231173.3 + 1 403 c.403G>A c.(403-405)Gaa>Aaa p.E135K NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 135 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGAGTTTCCTGAAAGAGAAAT 0.418000 38 131 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150900942 150900942 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:150900942G>A ENST00000261800.5 - 18 11224 c.11212C>T c.(11212-11214)Cat>Tat p.H3738Y NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3738 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACTGTGTTATGGCAGATTTGA 0.617000 7 81 0 0 1 0 0 WSB1 26118 broad.mit.edu 37 17 25637097 25637097 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:25637097C>T ENST00000262394.2 + 7 1211 c.895C>T c.(895-897)Ccc>Tcc p.P299S WSB1_ENST00000348811.2_Missense_Mutation_p.P153S NM_015626.8 NP_056441.6 Q9Y6I7 WSB1_HUMAN WD repeat and SOCS box containing 1 299 intracellular signal transduction intracellular protein binding lung(3) 3 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) GCACCTGTTTCCCCCACCTAC 0.428000 22 200 0 0 1 0 0 TENC1 23371 broad.mit.edu 37 12 53452110 53452110 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:53452110A>G ENST00000314250.6 + 15 1396 c.1106A>G c.(1105-1107)tAt>tGt p.Y369C TENC1_ENST00000546602.1_Missense_Mutation_p.Y369C|TENC1_ENST00000552570.1_Missense_Mutation_p.Y369C|TENC1_ENST00000451358.1_Missense_Mutation_p.Y369C|TENC1_ENST00000549700.1_Missense_Mutation_p.Y369C|TENC1_ENST00000314276.3_Missense_Mutation_p.Y379C|TENC1_ENST00000379902.3_Missense_Mutation_p.Y245C NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 369 C2 tensin-type. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 GTAACATGTTATCACAAGGGT 0.612000 45 57 0 0 1 0 0 SF3B2 10992 broad.mit.edu 37 11 65820496 65820496 + Splice_Site SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:65820496A>G ENST00000528302.1 + 3 234 c.e3-1 SF3B2_ENST00000322535.6_Splice_Site Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 TCTCTTTTGCAGACTGGCATC 0.507000 120 130 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 53 0 0 1 0 0 NUDCD1 84955 broad.mit.edu 37 8 110346145 110346145 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:110346145C>T ENST00000239690.4 - 1 469 c.95G>A c.(94-96)tGt>tAt p.C32Y NM_032869.3 NP_116258.2 Q96RS6 NUDC1_HUMAN NudC domain containing 1 32 breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1) 25 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;1.56e-12) CAGCTGGTAACAAGGCAGCGG 0.602000 19 50 0 0 1 0 0 STAG3L4 64940 broad.mit.edu 37 7 66774703 66774703 + RNA SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:66774703G>A ENST00000416602.2 + 0 719 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) ACACAAAGAGGTGAGGAGTGT 0.537000 29 206 0 0 1 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25251166 25251166 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr16:25251166T>C ENST00000328086.7 - 7 3678 c.2875A>G c.(2875-2877)Aag>Gag p.K959E NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 959 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) TCATCAGTCTTTCCCTTATGT 0.413000 33 77 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262659 140262659 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:140262659C>G ENST00000289272.2 + 1 806 c.806C>G c.(805-807)cCt>cGt p.P269R PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P269R NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCACAGATCCTGATGATGGT 0.398000 74 95 0 0 1 0 0 VTA1 51534 broad.mit.edu 37 6 142539746 142539746 + Missense_Mutation SNP A A C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:142539746A>C ENST00000367630.4 + 8 948 c.890A>C c.(889-891)aAg>aCg p.K297T VTA1_ENST00000452973.2_Missense_Mutation_p.K212T|VTA1_ENST00000367621.1_Missense_Mutation_p.K239T NM_016485.3 NP_057569.2 Q9NP79 VTA1_HUMAN vesicle (multivesicular body) trafficking 1 297 Interaction with VPS4B (By similarity). cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) AATCTACAAAAGGCTCTCAAG 0.433000 82 53 0 0 1 0 0 MCM5 4174 broad.mit.edu 37 22 35796450 35796450 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr22:35796450C>G ENST00000216122.4 + 2 173 c.19C>G c.(19-21)Cct>Gct p.P7A MCM5_ENST00000382011.5_Missense_Mutation_p.P7A NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 7 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 ATTCGACGATCCTGGCATTTT 0.672000 34 107 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159443179 159443179 + Splice_Site SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr4:159443179T>C ENST00000307765.5 + 1 300 c.e1+2 RXFP1_ENST00000470033.1_Splice_Site|RXFP1_ENST00000448688.2_Splice_Site|RXFP1_ENST00000472969.1_Splice_Site|RXFP1_ENST00000460056.2_Intron|RXFP1_ENST00000423548.1_Splice_Site|RXFP1_ENST00000343542.5_Splice_Site NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) GAAAATATTGTAAGTATGCTC 0.299000 4 18 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544282 82544282 + Silent SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:82544282G>T ENST00000333891.9 - 7 13357 c.13020C>A c.(13018-13020)acC>acA p.T4340T PCLO_ENST00000437081.1_Silent_p.T1060T|PCLO_ENST00000423517.2_Silent_p.T4340T NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTGGCAAACTGGTCGGCTTAG 0.468000 16 48 6.31663e-08 6.62966e-08 1 1 0 GIPC1 10755 broad.mit.edu 37 19 14589328 14589328 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:14589328G>T ENST00000393033.4 - 9 1171 c.902C>A c.(901-903)gCc>gAc p.A301D GIPC1_ENST00000591349.1_Missense_Mutation_p.A204D|GIPC1_ENST00000586027.1_Missense_Mutation_p.A301D|GIPC1_ENST00000393029.3_Missense_Mutation_p.A204D|GIPC1_ENST00000345425.2_Missense_Mutation_p.A301D|GIPC1_ENST00000393028.1_Missense_Mutation_p.A204D NM_005716.3 NP_005707.1 O14908 GIPC1_HUMAN GIPC PDZ domain containing family, member 1 301 endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 CAGGGCCTCGGCCAGCTCATC 0.617000 6 17 0.217242 0.217609 1 1 0 GLRA1 2741 broad.mit.edu 37 5 151208511 151208511 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:151208511G>C ENST00000274576.4 - 8 1322 c.1030C>G c.(1030-1032)Cga>Gga p.R344G GLRA1_ENST00000455880.2_Missense_Mutation_p.R344G|GLRA1_ENST00000545569.1_Missense_Mutation_p.R261G NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 344 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CTCCTGAATCGGAGCAGCTCC 0.468000 46 208 0 0 1 0 0 ZC3HC1 51530 broad.mit.edu 37 7 129666041 129666041 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:129666041G>C ENST00000358303.4 - 6 817 c.733C>G c.(733-735)Cac>Gac p.H245D RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.H245D|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.H245D|RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.H224D NM_016478.3 NP_057562.3 Q86WB0 NIPA_HUMAN zinc finger, C3HC-type containing 1 245 cell division|mitosis nucleus protein kinase binding|zinc ion binding endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1) 22 Melanoma(18;0.0435) GCAGTGACGTGGACTTGGATG 0.453000 17 52 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 861048 861048 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr4:861048C>T ENST00000314167.4 - 21 2678 c.2568G>A c.(2566-2568)ctG>ctA p.L856L GAK_ENST00000511163.1_Silent_p.L777L|GAK_ENST00000509566.1_5'UTR NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 856 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) CCTGCTGCACCAGCCCTGCTG 0.667000 38 45 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179588822 179588822 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:179588822C>T ENST00000589042.1 - 73 21388 c.21164G>A c.(21163-21165)gGg>gAg p.G7055E TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G5811E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G6738E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6738 Ig-like 52. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACCTAACACCCCACCAGTATT 0.438000 9 23 0 0 1 0 0 GUCY1B3 2983 broad.mit.edu 37 4 156725835 156725835 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr4:156725835C>T ENST00000264424.8 + 12 1727 c.1645C>T c.(1645-1647)Ctc>Ttc p.L549F GUCY1B3_ENST00000507146.1_Missense_Mutation_p.L524F|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.L571F|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.L529F|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.L481F|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.L516F|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.L481F NM_000857.2 NP_000848.1 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 549 Guanylate cyclase. blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) TACTGTCAACCTCACAAGCCG 0.398000 5 44 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47787024 47787024 + Silent SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr21:47787024C>G ENST00000359568.5 + 15 3242 c.3135C>G c.(3133-3135)acC>acG p.T1045T PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1045 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TCGCCGGAACCGTGGCTCACG 0.637000 13 80 0 0 1 0 0 TPTE2P2 644623 broad.mit.edu 37 13 52865664 52865664 + RNA SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr13:52865664T>C ENST00000451298.1 - 0 28 GATGACACAATTGAATGAACA 0.299000 7 9 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200877971 200877971 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:200877971G>A ENST00000367342.4 + 7 1143 c.943G>A c.(943-945)Gaa>Aaa p.E315K C1orf106_ENST00000413687.2_Missense_Mutation_p.E230K NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 315 Pro-rich. endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 TGGGAGCCCAGAACGGGCTCC 0.627000 26 33 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 11000780 11000780 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr16:11000780C>T ENST00000324288.8 + 11 1564 c.1431C>T c.(1429-1431)ctC>ctT p.L477L CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron NM_000246.3 NP_000237 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 477 NACHT. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 CACAGCCACTCGTGGCGGCCG 0.587000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 23 109 0 0 1 0 0 GFM2 84340 broad.mit.edu 37 5 74035894 74035894 + Silent SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:74035894C>G ENST00000296805.3 - 12 1456 c.999G>C c.(997-999)ctG>ctC p.L333L GFM2_ENST00000509430.1_Silent_p.L333L|GFM2_ENST00000427854.2_Silent_p.L333L|GFM2_ENST00000345239.2_Silent_p.L333L NM_032380.3 NP_115756.2 Q969S9 RRF2M_HUMAN G elongation factor, mitochondrial 2 333 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) CTTTGTTTTTCAGGGCACTTC 0.408000 17 90 0 0 1 0 0 CD160 11126 broad.mit.edu 37 1 145704284 145704284 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:145704284T>C ENST00000235933.6 - 2 235 c.133A>G c.(133-135)Act>Gct p.T45A CD160_ENST00000401557.3_Missense_Mutation_p.T45A|CD160_ENST00000369288.2_Missense_Mutation_p.T45A|CD160_ENST00000369290.1_Intron O95971 BY55_HUMAN CD160 molecule 45 Ig-like V-type. cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response anchored to plasma membrane MHC class I receptor activity|receptor binding endometrium(3)|large_intestine(2)|lung(2) 7 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) TGCCATACAGTACAGATTAAG 0.463000 36 39 0 0 1 0 0 SMC2 10592 broad.mit.edu 37 9 106880632 106880632 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr9:106880632G>C ENST00000286398.7 + 15 2260 c.1972G>C c.(1972-1974)Gat>Cat p.D658H SMC2_ENST00000374793.3_Missense_Mutation_p.D658H|SMC2_ENST00000303219.8_Missense_Mutation_p.D658H|SMC2_ENST00000374787.3_Missense_Mutation_p.D658H NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 658 Flexible hinge. cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 TGATGTGTTTGATCCTCATGG 0.363000 6 114 0 0 1 0 0 ALDOA 226 broad.mit.edu 37 16 30080205 30080205 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr16:30080205G>A ENST00000566897.1 + 8 1598 c.446G>A c.(445-447)cGt>cAt p.R149H ALDOA_ENST00000412304.2_Missense_Mutation_p.R149H|ALDOA_ENST00000569545.1_Missense_Mutation_p.R149H|ALDOA_ENST00000563060.2_Missense_Mutation_p.R149H|ALDOA_ENST00000395248.1_Missense_Mutation_p.R203H|ALDOA_ENST00000569798.1_Missense_Mutation_p.R149H|ALDOA_ENST00000395240.3_Missense_Mutation_p.R149H|ALDOA_ENST00000564546.1_Missense_Mutation_p.R149H|ALDOA_ENST00000564595.2_Missense_Mutation_p.R203H|ALDOA_ENST00000338110.5_Missense_Mutation_p.R149H P04075 ALDOA_HUMAN aldolase A, fructose-bisphosphate 149 actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 17 GCCAAGTGGCGTTGTGTGCTG 0.582000 OREG0023729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 88 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155448912 155448912 + Missense_Mutation SNP T T A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:155448912T>A ENST00000368346.3 - 3 4388 c.3749A>T c.(3748-3750)cAc>cTc p.H1250L ASH1L_ENST00000392403.3_Missense_Mutation_p.H1250L Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1250 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CTTACATTTGTGTTTATGTTT 0.393000 311 115 0 0 1 0 0 IPO11 51194 broad.mit.edu 37 5 61802167 61802167 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:61802167G>C ENST00000325324.6 + 19 1934 c.1765G>C c.(1765-1767)Gaa>Caa p.E589Q KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.E629Q NM_016338.4 NP_057422.3 Q9UI26 IPO11_HUMAN importin 11 589 cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) TTGTGTGATCGAAAGAGTCAA 0.348000 15 80 0 0 1 0 0 PLA2G15 23659 broad.mit.edu 37 16 68279380 68279380 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr16:68279380C>T ENST00000219345.5 + 1 134 c.51C>T c.(49-51)ctC>ctT p.L17L PLA2G15_ENST00000413021.2_Silent_p.L17L|PLA2G15_ENST00000566188.1_Silent_p.L17L|PLA2G15_ENST00000444212.2_Silent_p.L17L NM_012320.3 NP_036452.1 Q8NCC3 PAG15_HUMAN phospholipase A2, group XV 17 fatty acid catabolic process extracellular region|lysosome lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 12 CGGATGGCCTCCTGTTCCTCT 0.692000 6 2 0 0 1 0 0 ADAM32 203102 broad.mit.edu 37 8 39128403 39128403 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:39128403C>T ENST00000379907.4 + 20 2298 c.2171C>T c.(2170-2172)tCg>tTg p.S724L ADAM32_ENST00000519315.1_Intron|ADAM32_ENST00000524303.1_3'UTR|ADAM32_ENST00000437682.2_Missense_Mutation_p.S625L NM_145004.5 NP_659441 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 724 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) AGATCTAAATCGGAAGGTAGC 0.289000 16 76 0 0 1 0 0 SIRT7 51547 broad.mit.edu 37 17 79871995 79871995 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:79871995G>A ENST00000328666.6 - 8 927 c.865C>T c.(865-867)Cgg>Tgg p.R289W NM_016538.2 NP_057622.1 Q9NRC8 SIRT7_HUMAN sirtuin 7 289 Deacetylase sirtuin-type. chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription cytoplasm|nucleolus organizer region hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) TTCGGCCGCCGGCTAGGGGGC 0.567000 22 35 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42530858 42530858 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr18:42530858T>C ENST00000282030.5 + 4 1849 c.1553T>C c.(1552-1554)cTg>cCg p.L518P NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 518 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TCCAGAAAGCTGCCAGAAATC 0.507000 Schinzel-Giedion syndrome 17 54 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5804606 5804606 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:5804606A>G ENST00000328090.5 + 20 7911 c.7286A>G c.(7285-7287)tAt>tGt p.Y2429C NM_017782.4 NP_060252 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 2429 AGGAGTAGCTATTGGTAAGAA 0.348000 68 92 0 0 1 0 0 AMIGO3 386724 broad.mit.edu 37 3 49756197 49756197 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:49756197C>A ENST00000535833.1 - 10 4152 c.702G>T c.(700-702)tgG>tgT p.W234C RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.W234C|RNF123_ENST00000497099.1_Intron|GMPPB_ENST00000480687.1_3'UTR Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 234 LRRCT. heterophilic cell-cell adhesion integral to membrane endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCCGCTGGTGCCAGCGCTGTA 0.657000 15 5 4.7546e-09 5.03479e-09 1 1 0 DAK 26007 broad.mit.edu 37 11 61106844 61106844 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:61106844C>T ENST00000394900.3 + 5 652 c.423C>T c.(421-423)agC>agT p.S141S NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 141 DhaK. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 GGGACGACAGCGCCTTCACTG 0.657000 75 41 0 0 1 0 0 SEPN1 57190 broad.mit.edu 37 1 26135257 26135257 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:26135257C>G ENST00000361547.2 + 5 779 c.724C>G c.(724-726)Cca>Gca p.P242A SEPN1_ENST00000374315.1_Missense_Mutation_p.P208A|SEPN1_ENST00000354177.4_Missense_Mutation_p.P208A NM_020451.2 NP_065184.2 Q9NZV5 SELN_HUMAN selenoprotein N, 1 242 endoplasmic reticulum membrane|extracellular region protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) CCGCTTCTATCCACCGCCGCC 0.672000 18 65 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45396625 45396625 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:45396625A>G ENST00000303230.4 - 4 1256 c.1199T>C c.(1198-1200)cTg>cCg p.L400P NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 400 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CGAAGAATCCAGAGACTGGAT 0.463000 13 22 0 0 1 0 0 NAMPT 10135 broad.mit.edu 37 7 105909004 105909004 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:105909004C>T ENST00000222553.3 - 6 956 c.649G>A c.(649-651)Gga>Aga p.G217R NAMPT_ENST00000354289.4_Missense_Mutation_p.G217R NM_005746.2 NP_005737.1 P43490 NAMPT_HUMAN nicotinamide phosphoribosyltransferase 217 cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process cytosol cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 GTATCTGTTCCTTTGAAGTTA 0.378000 64 41 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13776783 13776783 + Missense_Mutation SNP A A T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:13776783A>T ENST00000265104.4 - 55 9242 c.9138T>A c.(9136-9138)gaT>gaA p.D3046E NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3046 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.D3046D(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TATTAATTTCATCAATTTCAT 0.408000 Kartagener syndrome 18 82 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181754944 181754944 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:181754944C>T ENST00000526775.1 + 42 5883 c.5718C>T c.(5716-5718)ccC>ccT p.P1906P CACNA1E_ENST00000367570.1_Silent_p.P1925P|CACNA1E_ENST00000358338.5_Silent_p.P1857P|CACNA1E_ENST00000367573.2_Silent_p.P1925P|CACNA1E_ENST00000360108.3_Silent_p.P1906P|CACNA1E_ENST00000357570.5_Silent_p.P1876P|CACNA1E_ENST00000367567.4_Silent_p.P1532P NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1925 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AGCAGGACCCCGTTTCAGGCC 0.542000 86 151 0 0 1 0 0 SLC13A4 26266 broad.mit.edu 37 7 135384182 135384182 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:135384182C>G ENST00000354042.4 - 8 1515 c.826G>C c.(826-828)Gct>Cct p.A276P NM_012450.2 NP_036582.2 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 4 276 integral to plasma membrane sodium:sulfate symporter activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 CCAATGGTAGCGGAGTAGGAT 0.522000 10 45 0 0 1 0 0 TDP2 51567 broad.mit.edu 37 6 24651138 24651138 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:24651138C>A ENST00000341060.3 - 6 1188 c.793G>T c.(793-795)Gca>Tca p.A265S TDP2_ENST00000545995.1_Missense_Mutation_p.A353S|TDP2_ENST00000378198.4_Missense_Mutation_p.A323S O95551 TYDP2_HUMAN tyrosyl-DNA phosphodiesterase 2 323 cell surface receptor linked signaling pathway|double-strand break repair PML body 5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity kidney(2)|large_intestine(1)|lung(5)|ovary(1) 9 TCTTCTGCTGCTGCTCTGAAA 0.408000 Direct reversal of damage 26 176 3.6726e-16 4.03306e-16 1 1 0 C10orf71 118461 broad.mit.edu 37 10 50530704 50530704 + Silent SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:50530704G>A ENST00000374144.3 + 3 402 c.114G>A c.(112-114)cgG>cgA p.R38R C10orf71_ENST00000323868.4_Silent_p.R38R Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 38 endometrium(1) 1 GGGCATTCCGGAGTTTGTGCA 0.552000 8 13 0 0 1 0 0 RAI14 26064 broad.mit.edu 37 5 34824208 34824208 + Missense_Mutation SNP T T A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:34824208T>A ENST00000265109.3 + 15 2548 c.2261T>A c.(2260-2262)cTt>cAt p.L754H RAI14_ENST00000512629.1_Missense_Mutation_p.L725H|RAI14_ENST00000397449.1_Missense_Mutation_p.L747H|RAI14_ENST00000506376.1_Missense_Mutation_p.L746H|RAI14_ENST00000515799.1_Missense_Mutation_p.L757H|RAI14_ENST00000428746.2_Missense_Mutation_p.L754H|RAI14_ENST00000503673.1_Missense_Mutation_p.L754H NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 754 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) ATAAGCAATCTTAAGGAACAC 0.428000 25 53 0 0 1 0 0 FAM105A 54491 broad.mit.edu 37 5 14602375 14602375 + Silent SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:14602375G>T ENST00000274217.3 + 5 552 c.432G>T c.(430-432)gtG>gtT p.V144V NM_019018.2 NP_061891.1 Q9NUU6 F105A_HUMAN family with sequence similarity 105, member A 144 large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Lung NSC(4;0.00592) TCAGATCAGTGTTATTTCAGA 0.383000 23 58 5.35356e-11 5.72011e-11 1 1 0 TRIM62 55223 broad.mit.edu 37 1 33613158 33613158 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:33613158C>T ENST00000291416.5 - 5 1281 c.1048G>A c.(1048-1050)Gtc>Atc p.V350I TRIM62_ENST00000543586.1_Missense_Mutation_p.V229I NM_018207.2 NP_060677.2 Q9BVG3 TRI62_HUMAN tripartite motif containing 62 350 B30.2/SPRY. intracellular zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393) CAGTAGTGGACGCCACTACTG 0.622000 10 34 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134670357 134670357 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:134670357C>T ENST00000398015.3 + 3 638 c.268C>T c.(268-270)Cgc>Tgc p.R90C EPHB1_ENST00000488154.1_3'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 90 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CACAGAGATGCGCTTCACTGT 0.537000 10 60 0 0 1 0 0 THAP1 55145 broad.mit.edu 37 8 42694417 42694417 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:42694417G>A ENST00000254250.3 - 2 409 c.179C>T c.(178-180)cCa>cTa p.P60L THAP1_ENST00000532093.1_5'UTR|THAP1_ENST00000345117.2_Intron NM_018105.2 NP_060575.1 Q9NVV9 THAP1_HUMAN THAP domain containing, apoptosis associated protein 1 60 cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body sequence-specific DNA binding|zinc ion binding NS(1)|lung(4)|prostate(1)|skin(1) 7 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869) AAAGCAGTCTGGAGTAAAGTG 0.403000 76 207 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114165617 114165617 + Splice_Site SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:114165617G>T ENST00000369615.1 + 9 1422 c.e9+1 MAGI3_ENST00000369611.4_Splice_Site|MAGI3_ENST00000369617.4_Splice_Site|MAGI3_ENST00000307546.9_Splice_Site NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATTGCACCAGGTAAGAAATTT 0.313000 14 20 1.5842e-08 1.67159e-08 1 1 0 ATG4B 23192 broad.mit.edu 37 2 242598542 242598542 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:242598542A>G ENST00000405546.3 + 7 980 c.478A>G c.(478-480)Acg>Gcg p.T160A ATG4B_ENST00000404914.3_Missense_Mutation_p.T160A|ATG4B_ENST00000474739.2_Missense_Mutation_p.T146A|ATG4B_ENST00000396411.3_Missense_Mutation_p.T86A|ATG4B_ENST00000402096.1_Missense_Mutation_p.T86A Q9Y4P1 ATG4B_HUMAN autophagy related 4B, cysteine peptidase 160 autophagic vacuole assembly|protein transport|proteolysis cytoplasm cysteine-type peptidase activity|protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848) TGTCTTCGATACGTGGAGCTC 0.453000 6 24 0 0 1 0 0 POLR2B 5431 broad.mit.edu 37 4 57871779 57871779 + Missense_Mutation SNP A A T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr4:57871779A>T ENST00000381227.1 + 10 1524 c.1111A>T c.(1111-1113)Agg>Tgg p.R371W POLR2B_ENST00000314595.5_Missense_Mutation_p.R371W|POLR2B_ENST00000441246.2_Missense_Mutation_p.R364W|POLR2B_ENST00000431623.2_Missense_Mutation_p.R296W P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 371 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) CATGGTTCATAGGTTACTTCT 0.333000 16 13 0 0 1 0 0 STIM2 57620 broad.mit.edu 37 4 27009301 27009301 + Silent SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr4:27009301G>A ENST00000382009.3 + 8 1656 c.1389G>A c.(1387-1389)caG>caA p.Q463Q STIM2_ENST00000467011.1_Silent_p.Q376Q|STIM2_ENST00000412829.2_Silent_p.Q463Q|STIM2_ENST00000465503.1_Silent_p.Q376Q|STIM2_ENST00000237364.5_Silent_p.Q463Q|STIM2_ENST00000467087.1_Silent_p.Q376Q NM_001169118.1 NP_001162589.1 Q9P246 STIM2_HUMAN stromal interaction molecule 2 376 activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 25 Breast(46;0.0503) CTGAAATGCAGCTAGCTATTG 0.373000 23 36 0 0 1 0 0 CMAS 55907 broad.mit.edu 37 12 22215238 22215238 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:22215238C>T ENST00000229329.2 + 7 1114 c.984C>T c.(982-984)gcC>gcT p.A328A NM_018686.4 NP_061156.1 Q8NFW8 NEUA_HUMAN cytidine monophosphate N-acetylneuraminic acid synthetase 328 lipopolysaccharide biosynthetic process nucleus N-acylneuraminate cytidylyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 CAGAAAGGGCCTGTTCAAAGC 0.348000 12 20 0 0 1 0 0 GNG3 2785 broad.mit.edu 37 11 62476267 62476267 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:62476267G>A ENST00000294117.5 + 3 476 c.217G>A c.(217-219)Gct>Act p.A73T HNRNPUL2-BSCL2_ENST00000403734.2_Intron|BSCL2_ENST00000433053.1_Intron|BSCL2_ENST00000405837.1_Intron NM_012202.4 NP_036334.1 P63215 GBG3_HUMAN guanine nucleotide binding protein (G protein), gamma 3 73 activation of MAPK activity|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission GTPase activity|signal transducer activity kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 5 GTTCTTCTGTGCTCTCCTCTG 0.562000 82 51 0 0 1 0 0 NOXA1 10811 broad.mit.edu 37 9 140327507 140327507 + Silent SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr9:140327507A>G ENST00000341349.2 + 9 1011 c.831A>G c.(829-831)aaA>aaG p.K277K NOXA1_ENST00000392815.2_Silent_p.K221K NM_001256067.1|NM_006647.1 NP_001242996.1|NP_006638.1 Q86UR1 NOXA1_HUMAN NADPH oxidase activator 1 277 Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate). K -> E (in Ref. 3; AAY16126). regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process cytoplasm|NADPH oxidase complex Rac GTPase binding|superoxide-generating NADPH oxidase activator activity cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1) 9 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982) AAGTTGGCAAACAGGCTCCTC 0.677000 11 48 0 0 1 0 0 AS3MT 57412 broad.mit.edu 37 10 104634401 104634401 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:104634401G>A ENST00000369880.3 + 6 588 c.511G>A c.(511-513)Gca>Aca p.A171T C10orf32-ASMT_ENST00000299353.6_3'UTR NM_020682.3 NP_065733.2 Q9HBK9 AS3MT_HUMAN arsenic (+3 oxidation state) methyltransferase 171 arsonoacetate metabolic process|toxin metabolic process cytosol arsenite methyltransferase activity|methylarsonite methyltransferase activity large_intestine(1)|lung(6) 7 Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223) GCTTCAGGAGGCATATCGGGT 0.403000 11 10 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30374866 30374866 + Missense_Mutation SNP A A C rs140028629 byFrequency TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:30374866A>C ENST00000327564.7 + 9 2471 c.2410A>C c.(2410-2412)Att>Ctt p.I804L LRRC37B_ENST00000394713.3_Missense_Mutation_p.I726L|LRRC37B_ENST00000341671.7_Missense_Mutation_p.I777L|LRRC37B_ENST00000543378.2_Missense_Mutation_p.I695L|LRRC37B_ENST00000584368.1_Missense_Mutation_p.I738L Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 777 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) TCAGCTGACTATTGAGTCGGA 0.512000 152 123 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115420783 115420783 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:115420783G>T ENST00000369522.3 + 12 1110 c.870G>T c.(868-870)gaG>gaT p.E290D SYCP1_ENST00000369518.1_Missense_Mutation_p.E290D NM_001282541.1|NM_003176.2 NP_001269470.1|NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 290 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCTGCTAGAGGAATCCAGAG 0.254000 24 58 2.44723e-14 2.64819e-14 1 1 0 ZNF550 162972 broad.mit.edu 37 19 58058965 58058965 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:58058965C>A ENST00000325134.5 - 3 707 c.551G>T c.(550-552)tGg>tTg p.W184L ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000457177.1_Missense_Mutation_p.W216L|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.W175L Q7Z398 ZN550_HUMAN zinc finger protein 550 216 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 7 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AACGAGATACCACTTCCTGTT 0.478000 93 68 1.63847e-34 1.86132e-34 1 1 0 LRRC8E 80131 broad.mit.edu 37 19 7964184 7964184 + Silent SNP G G A rs149579283 byFrequency TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:7964184G>A ENST00000306708.6 + 3 878 c.777G>A c.(775-777)acG>acA p.T259T AC010336.1_ENST00000539278.1_3'UTR NM_001268284.1|NM_001268285.1|NM_025061.4 NP_001255213.1|NP_001255214.1|NP_079337.2 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member E 259 integral to membrane breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10) 35 TCCGACAGACGGTGCTGAAAG 0.537000 23 16 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1270324 1270324 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:1270324A>G ENST00000447027.1 + 31 12281 c.12223A>G c.(12223-12225)Agc>Ggc p.S4075G MUC5B_ENST00000529681.1_Missense_Mutation_p.S4072G|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4072 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCCTCACCCTAGCAGCAGGAC 0.682000 62 28 0 0 1 0 0 SEMA3C 10512 broad.mit.edu 37 7 80418628 80418628 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:80418628C>G ENST00000265361.3 - 12 1909 c.1348G>C c.(1348-1350)Gga>Cga p.G450R SEMA3C_ENST00000544525.1_Missense_Mutation_p.G468R|SEMA3C_ENST00000419255.2_Missense_Mutation_p.G450R NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 450 Sema. immune response|response to drug membrane receptor activity p.G450*(1)|p.G450R(1) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TTACCTGTTCCGAGAAACAGG 0.393000 32 82 0 0 1 0 0 TRAPPC2L 51693 broad.mit.edu 37 16 88923573 88923573 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr16:88923573C>T ENST00000565504.1 + 1 39 c.15C>T c.(13-15)atC>atT p.I5I TRAPPC2L_ENST00000567895.1_5'UTR|TRAPPC2L_ENST00000564365.1_Intron|TRAPPC2L_ENST00000568583.1_Silent_p.I5I|TRAPPC2L_ENST00000567312.1_Silent_p.I5I|TRAPPC2L_ENST00000301021.3_Silent_p.I5I Q9UL33 TPC2L_HUMAN trafficking protein particle complex 2-like 5 ER to Golgi vesicle-mediated transport endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm p.I5I(1) lung(4)|pancreas(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(80;0.0477) CGGTGTGCATCGCGGTGATTG 0.682000 8 0 0 0 1 0 0 KRT16 3868 broad.mit.edu 37 17 39768679 39768679 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:39768679C>T ENST00000301653.4 - 1 326 c.262G>A c.(262-264)Ggt>Agt p.G88S NM_005557.3 NP_005548.2 P08779 K1C16_HUMAN keratin 16 88 Head. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) ccaaggccaccaccatatcct 0.632000 17 48 0 0 1 0 0 MAP3K7CL 56911 broad.mit.edu 37 21 30547040 30547040 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr21:30547040C>T ENST00000399935.2 + 10 923 c.256C>T c.(256-258)Ctc>Ttc p.L86F MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.L186F|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.L86F|MAP3K7CL_ENST00000399947.2_Missense_Mutation_p.L186F|MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.L86F|MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.L86F|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.L80F|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.L86F|MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.L86F|MAP3K7CL_ENST00000286791.5_3'UTR MAP3K7 C-terminal like CAGGAAGGAGCTCATTGCCAA 0.453000 31 25 0 0 1 0 0 ZFAT 57623 broad.mit.edu 37 8 135669838 135669838 + Silent SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:135669838T>C ENST00000520727.1 - 3 425 c.126A>G c.(124-126)acA>acG p.T42T ZFAT_ENST00000429442.2_Silent_p.T42T|ZFAT_ENST00000520214.1_Silent_p.T42T|ZFAT_ENST00000520356.1_Silent_p.T42T|ZFAT_ENST00000377838.3_Silent_p.T54T|ZFAT_ENST00000523399.1_Silent_p.T54T NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 54 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding p.T54T(1)|p.T42T(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GGGGTTCAGGTGTACTCAGAG 0.512000 16 52 0 0 1 0 0 PCF11 51585 broad.mit.edu 37 11 82872452 82872452 + Missense_Mutation SNP T T G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:82872452T>G ENST00000298281.4 + 2 728 c.276T>G c.(274-276)ttT>ttG p.F92L NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 92 CID. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 TCACTGCCTTTACTAAAAATC 0.318000 8 15 0 0 1 0 0 ANXA6 309 broad.mit.edu 37 5 150527458 150527458 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:150527458G>A ENST00000354546.5 - 2 232 c.5C>T c.(4-6)gCc>gTc p.A2V ANXA6_ENST00000521512.1_Missense_Mutation_p.A2V|ANXA6_ENST00000356496.5_Missense_Mutation_p.A2V|ANXA6_ENST00000377751.5_Missense_Mutation_p.A2V NM_001155.4 NP_001146.2 P08133 ANXA6_HUMAN annexin A6 2 melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding endometrium(2)|kidney(1)|lung(9) 12 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCTGGTTTGGCCATGGTCTC 0.542000 3 14 0 0 1 0 0 SMIM19 114926 broad.mit.edu 37 8 42403804 42403804 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:42403804A>G ENST00000438528.3 + 3 189 c.140A>G c.(139-141)aAa>aGa p.K47R SMIM19_ENST00000414154.2_Missense_Mutation_p.K47R|SMIM19_ENST00000416469.2_Missense_Mutation_p.K47R|SMIM19_ENST00000490331.2_Missense_Mutation_p.K47R|SMIM19_ENST00000417410.2_Missense_Mutation_p.K47R NM_001135676.1 NP_001129148.1 small integral membrane protein 19 TTTAGGAACAAAAGGAGAATT 0.373000 15 135 0 0 1 0 0 AARS 16 broad.mit.edu 37 16 70301635 70301635 + Silent SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr16:70301635G>C ENST00000261772.8 - 9 1292 c.1149C>G c.(1147-1149)ctC>ctG p.L383L NM_001605.2 NP_001596.2 P49588 SYAC_HUMAN alanyl-tRNA synthetase 383 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) TGAGAGTCTTGAGAAACTGCA 0.502000 OREG0023913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 28 0 0 1 0 0 CASP7 840 broad.mit.edu 37 10 115480794 115480794 + Silent SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:115480794G>A ENST00000369321.2 + 4 533 c.213G>A c.(211-213)aaG>aaA p.K71K CASP7_ENST00000369315.1_Silent_p.K38K|CASP7_ENST00000369318.3_Silent_p.K38K|CASP7_ENST00000369331.4_Silent_p.K38K|CASP7_ENST00000468790.1_3'UTR|CASP7_ENST00000452490.2_Silent_p.K13K|CASP7_ENST00000345633.4_Silent_p.K38K NM_033338.5 NP_203124.1 P55210 CASP7_HUMAN caspase 7, apoptosis-related cysteine peptidase 38 activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm cysteine-type endopeptidase activity|protein binding kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Colorectal(252;0.0946)|Breast(234;0.188) Epithelial(162;0.012)|all cancers(201;0.014) TCACCAGTAAGAAGAAGAAAA 0.438000 63 69 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42856569 42856569 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:42856569G>C ENST00000334370.4 + 18 3745 c.3110G>C c.(3109-3111)cGg>cCg p.R1037P MEGF8_ENST00000251268.6_Missense_Mutation_p.R1104P NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1104 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) CACTGCCAGCGGGGCTACCAG 0.667000 3 12 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29599609 29599609 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr13:29599609G>C ENST00000431530.3 + 1 862 c.804G>C c.(802-804)gaG>gaC p.E268D NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 258 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CTCCCTCAGAGACCCAAACAG 0.537000 9 29 0 0 1 0 0 SCAF4 57466 broad.mit.edu 37 21 33044006 33044006 + Silent SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr21:33044006A>G ENST00000286835.7 - 20 3532 c.3150T>C c.(3148-3150)aaT>aaC p.N1050N SCAF4_ENST00000399804.1_Silent_p.N1028N|SCAF4_ENST00000434667.3_Silent_p.N1035N NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 1050 nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 TAGAGCGTCTATTTCTCTCTT 0.502000 31 75 0 0 1 0 0 HIPK2 28996 broad.mit.edu 37 7 139257719 139257719 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:139257719C>G ENST00000406875.3 - 15 3645 c.3551G>C c.(3550-3552)gGa>gCa p.G1184A HIPK2_ENST00000428878.2_Missense_Mutation_p.G1157A NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 1184 Autoinhibitory domain (AID). apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) CAGTGGGTATCCAGTGTAGAC 0.622000 5 37 0 0 1 0 0 FAM98A 25940 broad.mit.edu 37 2 33817204 33817204 + Missense_Mutation SNP T T G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:33817204T>G ENST00000403368.1 - 3 349 c.280A>C c.(280-282)Aca>Cca p.T94P FAM98A_ENST00000238823.8_Missense_Mutation_p.T94P|FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000441530.2_5'UTR NM_015475.3 NP_056290.3 Q8NCA5 FA98A_HUMAN family with sequence similarity 98, member A 94 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1) 24 all_hematologic(175;0.115) TCCCCAGATGTCAGTGAAAGA 0.428000 45 118 0 0 1 0 0 SSH3 54961 broad.mit.edu 37 11 67077389 67077389 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:67077389C>A ENST00000308127.4 + 12 1537 c.1359C>A c.(1357-1359)aaC>aaA p.N453K SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_Missense_Mutation_p.N453K NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 453 Tyrosine-protein phosphatase. regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CCCGCCCCAACCCTGGCTTCC 0.667000 35 16 4.65686e-17 5.1425e-17 1 1 0 MOV10L1 54456 broad.mit.edu 37 22 50596529 50596529 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr22:50596529C>G ENST00000262794.5 + 23 3193 c.3110C>G c.(3109-3111)cCg>cGg p.P1037R MOV10L1_ENST00000540615.1_Missense_Mutation_p.P1017R|MOV10L1_ENST00000395852.1_Missense_Mutation_p.P164R|MOV10L1_ENST00000545383.1_Missense_Mutation_p.P1037R|MOV10L1_ENST00000354853.2_Missense_Mutation_p.P80R|MOV10L1_ENST00000395843.1_Missense_Mutation_p.P80R|MOV10L1_ENST00000395858.3_Missense_Mutation_p.P1037R NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 1037 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding p.P1037Q(1)|p.P1017Q(1) breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) TGGTTCAACCCGGCCGAGGCC 0.587000 14 16 0 0 1 0 0 DCBLD1 285761 broad.mit.edu 37 6 117859920 117859920 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:117859920G>C ENST00000338728.5 + 8 1018 c.898G>C c.(898-900)Gct>Cct p.A300P DCBLD1_ENST00000296955.8_Missense_Mutation_p.A300P|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000368503.4_Intron Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 300 F5/8 type C. cell adhesion integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) CCCATCATGGGCTTCGGGCGA 0.512000 32 26 0 0 1 0 0 NDUFAB1 4706 broad.mit.edu 37 16 23598613 23598613 + Missense_Mutation SNP G G A rs151010809 byFrequency TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr16:23598613G>A ENST00000570319.1 - 2 196 c.196C>T c.(196-198)Cgc>Tgc p.R66C NDUFAB1_ENST00000007516.3_Missense_Mutation_p.R66C O14561 ACPM_HUMAN NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa 66 fatty acid biosynthetic process|mitochondrial electron transport, NADH to ubiquinone mitochondrial matrix|mitochondrial respiratory chain complex I acyl carrier activity|calcium ion binding|cofactor binding|fatty acid binding|NADH dehydrogenase (ubiquinone) activity|phosphopantetheine binding endometrium(1)|large_intestine(1)|lung(1) 3 GBM - Glioblastoma multiforme(48;0.0339) NADH(DB00157) CTATACTGGCGGCACAACTGT 0.463000 6 69 0 0 1 0 0 GIT1 28964 broad.mit.edu 37 17 27903237 27903237 + Splice_Site SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:27903237C>T ENST00000225394.3 - 14 1860 c.e14+1 RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Splice_Site|GIT1_ENST00000581348.1_Splice_Site|GIT1_ENST00000579937.1_Splice_Site NM_014030.3 NP_054749.2 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interacting ArfGAP 1 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) AGGTGACTCACAGTGCTGTGG 0.627000 51 52 0 0 1 0 0 IGF1 3479 broad.mit.edu 37 12 102869534 102869534 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:102869534G>A ENST00000456098.1 - 2 325 c.107C>T c.(106-108)gCg>gTg p.A36V IGF1_ENST00000337514.6_Missense_Mutation_p.A36V|IGF1_ENST00000392904.1_Missense_Mutation_p.A36V|IGF1_ENST00000424202.2_Missense_Mutation_p.A20V|IGF1_ENST00000307046.8_Missense_Mutation_p.A36V NM_001111283.1 NP_001104753.1 P05019 IGF1_HUMAN insulin-like growth factor 1 (somatomedin C) 36 anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration platelet alpha granule lumen growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1) 11 CAGGCACAGCGCCAGGTAGAA 0.597000 13 9 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107302154 107302154 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:107302154C>T ENST00000265715.3 + 2 292 c.68C>T c.(67-69)tCg>tTg p.S23L SLC26A4-AS1_ENST00000440512.1_RNA|SLC26A4-AS1_ENST00000449741.1_RNA|SLC26A4-AS1_ENST00000591896.1_RNA|SLC26A4-AS1_ENST00000587899.1_RNA NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 23 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 TACATGGTGTCGCGGCCGGTC 0.687000 Pendred syndrome 3 3 0 0 1 0 0 C21orf59 56683 broad.mit.edu 37 21 33976445 33976445 + Missense_Mutation SNP G G A rs146867345 TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr21:33976445G>A ENST00000382549.4 - 4 866 c.524C>T c.(523-525)tCg>tTg p.S175L C21orf59_ENST00000290155.3_Missense_Mutation_p.S175L|C21orf59_ENST00000540881.1_Missense_Mutation_p.S119L|AP000275.65_ENST00000553001.1_Missense_Mutation_p.S175L P57076 CU059_HUMAN chromosome 21 open reading frame 59 175 cytosol|nucleus endometrium(2)|large_intestine(1)|prostate(1)|skin(1) 5 CTGTGTTCCCGACAAGTCTTC 0.517000 14 51 0 0 1 0 0 ZNF587 84914 broad.mit.edu 37 19 58370973 58370973 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:58370973A>G ENST00000339656.5 + 3 1375 c.1193A>G c.(1192-1194)cAt>cGt p.H398R ZNF587_ENST00000423137.1_Missense_Mutation_p.H397R|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.H355R|ZNF814_ENST00000597832.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 398 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) CTCGTTCACCATCAGCGAGGT 0.463000 106 138 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124357303 124357303 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:124357303G>C ENST00000287394.5 - 19 2646 c.2539C>G c.(2539-2541)Cgt>Ggt p.R847G ATAD2_ENST00000521903.1_Missense_Mutation_p.R165G NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 847 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TTAGCTTCACGAATCACCTAG 0.398000 48 84 0 0 1 0 0 RETN 56729 broad.mit.edu 37 19 7734266 7734266 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:7734266C>T ENST00000221515.2 + 2 142 c.54C>T c.(52-54)agC>agT p.S18S RETN_ENST00000381324.2_Silent_p.S18S NM_001193374.1|NM_020415.3 NP_001180303.1|NP_065148.1 Q9HD89 RETN_HUMAN resistin 18 hormone activity ovary(1) 1 TGGTGTCTAGCAAGACCCTGT 0.592000 48 130 0 0 1 0 0 HSPA6 3310 broad.mit.edu 37 1 161494666 161494666 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:161494666A>G ENST00000309758.4 + 1 631 c.218A>G c.(217-219)aAg>aGg p.K73R RP11-25K21.6_ENST00000537821.2_RNA NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 73 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) TTCGATGCCAAGCGGCTGATC 0.687000 10 112 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108186754 108186754 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:108186754C>A ENST00000278616.4 + 42 6497 c.6112C>A c.(6112-6114)Cac>Aac p.H2038N C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.H2038N NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2038 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) AACATATGAACACGAAGCAAT 0.398000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 20 4 8.28177e-16 9.06105e-16 1 1 0 UROC1 131669 broad.mit.edu 37 3 126229577 126229577 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:126229577C>G ENST00000290868.2 - 2 240 c.187G>C c.(187-189)Gag>Cag p.E63Q UROC1_ENST00000383579.3_Missense_Mutation_p.E63Q NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 63 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) TGGGCAAACTCTGGGGCCAGC 0.607000 7 74 0 0 1 0 0 METTL3 56339 broad.mit.edu 37 14 21969218 21969218 + Missense_Mutation SNP T T A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr14:21969218T>A ENST00000298717.4 - 5 1104 c.953A>T c.(952-954)aAt>aTt p.N318I METTL3_ENST00000538267.1_3'UTR NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 318 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) GAAACATGTATTAAGGAAAGA 0.428000 14 40 0 0 1 0 0 CPSF2 53981 broad.mit.edu 37 14 92600430 92600430 + Silent SNP C C A rs150522138 TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr14:92600430C>A ENST00000298875.4 + 4 510 c.225C>A c.(223-225)gtC>gtA p.V75V NM_017437.2 NP_059133.1 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2, 100kDa 75 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 24 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) CGTATGCTGTCGGAAAGTTGG 0.433000 125 64 4.3601e-43 4.99138e-43 1 1 0 HAVCR2 84868 broad.mit.edu 37 5 156522343 156522343 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:156522343A>G ENST00000307851.4 - 5 1380 c.650T>C c.(649-651)cTt>cCt p.L217P HAVCR2_ENST00000522593.1_Missense_Mutation_p.L189P NM_032782.4 NP_116171.3 Q8TDQ0 HAVR2_HUMAN hepatitis A virus cellular receptor 2 217 integral to membrane cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCCGAAGATAAGAGCCAGAGC 0.443000 57 38 0 0 1 0 0 PAPLN 89932 broad.mit.edu 37 14 73721273 73721273 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr14:73721273G>A ENST00000427855.1 + 13 1457 c.1355G>A c.(1354-1356)gGt>gAt p.G452D PAPLN_ENST00000381166.3_Missense_Mutation_p.G452D|PAPLN_ENST00000554301.1_Missense_Mutation_p.G452D|PAPLN_ENST00000340738.5_Missense_Mutation_p.G425D|PAPLN_ENST00000555445.1_Missense_Mutation_p.G452D O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 452 TSP type-1 4. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) ACTTGCCGGGGTGAAAGGGGT 0.617000 67 25 0 0 1 0 0 PALMD 54873 broad.mit.edu 37 1 100154383 100154383 + Missense_Mutation SNP T T A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:100154383T>A ENST00000263174.4 + 7 942 c.567T>A c.(565-567)agT>agA p.S189R PALMD_ENST00000605497.1_Missense_Mutation_p.S189R NM_017734.4 NP_060204.1 Q9NP74 PALMD_HUMAN palmdelphin 189 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) CTGGAGAAAGTACAGTTCTGT 0.323000 32 109 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20388941 20388941 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr14:20388941T>C ENST00000315915.4 + 1 201 c.176T>C c.(175-177)aTg>aCg p.M59T NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CACTCCCCTATGTACTTTCTC 0.408000 53 174 0 0 1 0 0 EIF4H 7458 broad.mit.edu 37 7 73602031 73602031 + Silent SNP T T G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:73602031T>G ENST00000265753.8 + 2 289 c.150T>G c.(148-150)ccT>ccG p.P50P EIF4H_ENST00000353999.6_Silent_p.P50P|EIF4H_ENST00000495187.1_3'UTR NM_022170.1 NP_071496.1 Q15056 IF4H_HUMAN eukaryotic translation initiation factor 4H 50 RRM. interspecies interaction between organisms|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity endometrium(1)|lung(2)|prostate(1) 4 GAAATCTACCTTTCAATACGG 0.512000 50 122 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76901828 76901828 + Silent SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:76901828G>T ENST00000409709.3 + 30 4109 c.3837G>T c.(3835-3837)acG>acT p.T1279T MYO7A_ENST00000409619.2_Silent_p.T1268T|MYO7A_ENST00000458637.2_Silent_p.T1279T NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1279 FERM 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CGGCAACCACGGCCAAGGAGC 0.592000 5 6 5.9392e-07 6.20061e-07 1 1 0 GRIK4 2900 broad.mit.edu 37 11 120856901 120856901 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:120856901C>T ENST00000527524.2 + 21 3090 c.2803C>T c.(2803-2805)Ccg>Tcg p.P935S GRIK4_ENST00000438375.2_Missense_Mutation_p.P935S NM_001282470.1 NP_001269399.1 Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 935 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) GCGGGCACGGCCGTCGCCCGC 0.746000 7 3 0 0 1 0 0 WIBG 84305 broad.mit.edu 37 12 56295691 56295691 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:56295691C>G ENST00000408946.2 - 3 731 c.580G>C c.(580-582)Gaa>Caa p.E194Q WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000398213.4_Missense_Mutation_p.E193Q NM_032345.2 NP_115721.1 Q9BRP8 WIBG_HUMAN within bgcn homolog (Drosophila) 194 eIF2A-like. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm protein binding|ribosome binding|RNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 AACTCCTCTTCTAGCGCCCTC 0.577000 47 289 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74005452 74005452 + Missense_Mutation SNP G G C rs138831181 TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:74005452G>C ENST00000301607.3 - 22 4087 c.3834C>G c.(3832-3834)aaC>aaG p.N1278K EVPL_ENST00000586740.1_Missense_Mutation_p.N1300K NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1278 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity p.N1278N(1) breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TGACGAGCTCGTTGAGCTGAG 0.662000 24 67 0 0 1 0 0 HSPA6 3310 broad.mit.edu 37 1 161494982 161494982 + Silent SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:161494982C>A ENST00000309758.4 + 1 947 c.534C>A c.(532-534)ccC>ccA p.P178P RP11-25K21.6_ENST00000537821.2_RNA NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 178 P -> A (in dbSNP:rs41297710). response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCAATGAGCCCACGGCAGCTG 0.647000 14 83 3.27435e-08 3.44271e-08 1 1 0 MAP2 4133 broad.mit.edu 37 2 210559922 210559922 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:210559922G>T ENST00000360351.4 + 7 3534 c.3028G>T c.(3028-3030)Gca>Tca p.A1010S MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.A1006S|MAP2_ENST00000199940.6_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1010 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) ACCAACAGATGCATCCTCTGA 0.438000 43 49 1.03325e-14 1.12219e-14 1 1 0 TLE2 7089 broad.mit.edu 37 19 3009614 3009614 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:3009614C>T ENST00000262953.6 - 13 1361 c.1099G>A c.(1099-1101)Gtg>Atg p.V367M TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Missense_Mutation_p.V245M|TLE2_ENST00000590536.1_Missense_Mutation_p.V368M|TLE2_ENST00000591529.1_Missense_Mutation_p.V381M|TLE2_ENST00000447365.2_Intron|TLE2_ENST00000426948.2_Missense_Mutation_p.V381M|TLE2_ENST00000443826.3_Missense_Mutation_p.V245M NM_003260.4 NP_003251.2 Q04725 TLE2_HUMAN transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) 367 Pro/Ser-rich. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 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) GAGCTGGGCACGGAGAGGTCT 0.657000 17 12 0 0 1 0 0 ZNF529 57711 broad.mit.edu 37 19 37038021 37038021 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:37038021C>A ENST00000334116.7 - 6 1734 c.1124G>T c.(1123-1125)tGt>tTt p.C375F ZNF529_ENST00000591340.1_Missense_Mutation_p.C480F NM_001145650.1 NP_001139122.1 Q6P280 ZN529_HUMAN zinc finger protein 529 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) ACATACCTTACATTCATAAGG 0.393000 35 32 4.3181e-19 4.82228e-19 1 1 0 NDNL2 56160 broad.mit.edu 37 15 29561810 29561810 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr15:29561810C>T ENST00000332303.4 - 1 223 c.100G>A c.(100-102)Gaa>Aaa p.E34K FAM189A1_ENST00000261275.4_Intron NM_138704.3 NP_619649.1 Q96MG7 MAGG1_HUMAN necdin-like 2 34 regulation of growth cytoplasm|nucleus breast(3)|large_intestine(2)|lung(3) 8 all_lung(180;4.69e-11)|Breast(32;0.0013) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CGGGCGTCTTCCCCGGCCCGC 0.726000 7 3 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77661644 77661644 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr4:77661644A>G ENST00000296043.6 + 5 3271 c.2318A>G c.(2317-2319)cAg>cGg p.Q773R NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 773 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) CAGGGCTTTCAGTACGGGAAG 0.672000 16 25 0 0 1 0 0 STMN3 50861 broad.mit.edu 37 20 62273518 62273518 + Silent SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr20:62273518G>C ENST00000370053.1 - 4 507 c.426C>G c.(424-426)ctC>ctG p.L142L STMN3_ENST00000540534.1_Silent_p.L131L NM_001276310.1|NM_015894.2 NP_001263239.1|NP_056978.2 Q9NZ72 STMN3_HUMAN stathmin-like 3 142 cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity cytoplasm protein domain specific binding kidney(1)|large_intestine(1)|lung(5)|prostate(1) 8 all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13) Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559) TCTCCTTGCTGAGCTCCATCT 0.697000 7 20 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74272446 74272446 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr4:74272446G>T ENST00000295897.4 + 3 327 c.238G>T c.(238-240)Gat>Tat p.D80Y ALB_ENST00000509063.1_Missense_Mutation_p.D80Y|ALB_ENST00000415165.2_Intron|ALB_ENST00000401494.3_Intron|ALB_ENST00000503124.1_5'UTR NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 80 Albumin 1. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) ATGTGTTGCTGATGAGTCAGC 0.348000 8 40 0.000157383 0.000159809 1 1 0 MTUS2 23281 broad.mit.edu 37 13 29599201 29599201 + Silent SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr13:29599201G>A ENST00000431530.3 + 1 454 c.396G>A c.(394-396)caG>caA p.Q132Q NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 122 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 ATAGCCTGCAGACCACGCGGA 0.502000 42 113 0 0 1 0 0 LRIT1 26103 broad.mit.edu 37 10 85992584 85992584 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:85992584C>T ENST00000372105.3 - 4 992 c.971G>A c.(970-972)gGa>gAa p.G324E NM_015613.2 NP_056428.1 Q9P2V4 LRIT1_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 324 Ig-like C2-type. integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 GATGTAGTCTCCGGAGTCAAG 0.562000 30 25 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65888045 65888045 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:65888045C>T ENST00000321892.4 + 7 2389 c.2328C>T c.(2326-2328)atC>atT p.I776I BPTF_ENST00000306378.6_Silent_p.I650I|BPTF_ENST00000424123.3_Silent_p.I637I|BPTF_ENST00000335221.5_Silent_p.I776I Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 776 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CAACTCGAATCATCACCAGAT 0.468000 23 16 0 0 1 0 0 MARCH10 162333 broad.mit.edu 37 17 60782869 60782869 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:60782869C>T ENST00000544856.2 - 11 2777 c.2399G>A c.(2398-2400)tGa>tAa p.*800* MARCH10_ENST00000456609.2_Intron|MARCH10_ENST00000583600.1_Intron|MARCH10_ENST00000311269.5_Intron|RP11-156L14.1_ENST00000584597.1_RNA Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 0 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 CAAACACCCTCAAAATGGCAG 0.433000 29 33 0 0 1 0 0 DDX46 9879 broad.mit.edu 37 5 134143524 134143524 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:134143524C>G ENST00000452510.2 + 16 2199 c.2041C>G c.(2041-2043)Cga>Gga p.R681G DDX46_ENST00000354283.4_Missense_Mutation_p.R681G NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 681 Helicase C-terminal. mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGTTGCTGCCCGAGGTCTAGA 0.428000 25 71 0 0 1 0 0 C12orf50 160419 broad.mit.edu 37 12 88383143 88383143 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:88383143C>T ENST00000298699.2 - 8 778 c.598G>A c.(598-600)Gac>Aac p.D200N C12orf50_ENST00000550553.1_Missense_Mutation_p.D200N NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 200 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 ACATAACAGTCACCTCCTATG 0.363000 16 61 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12542444 12542444 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:12542444A>G ENST00000301547.5 - 4 739 c.542T>C c.(541-543)tTg>tCg p.L181S CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 181 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 AAGGTTTCCCAAAGAACTGAA 0.408000 85 94 0 0 1 0 0 CDK5RAP3 80279 broad.mit.edu 37 17 46054136 46054136 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:46054136C>T ENST00000536708.2 + 9 1041 c.932C>T c.(931-933)tCt>tTt p.S311F CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.S286F NM_001278197.1 NP_001265126.1 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 286 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18 TCTGGCATCTCTGCCGAGGCT 0.522000 24 40 0 0 1 0 0 SEC13 6396 broad.mit.edu 37 3 10353718 10353718 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:10353718C>T ENST00000397117.1 - 5 930 c.339G>A c.(337-339)ggG>ggA p.G113G SEC13_ENST00000350697.3_Silent_p.G127G|SEC13_ENST00000383801.2_Silent_p.G173G|SEC13_ENST00000337354.4_Silent_p.G130G|SEC13_ENST00000397109.3_Silent_p.G113G P55735 SEC13_HUMAN SEC13 homolog (S. cerevisiae) 127 COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex protein binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 17 GGGAGATGGCCCCATCCGAGC 0.597000 28 15 0 0 1 0 0 CD9 928 broad.mit.edu 37 12 6344731 6344731 + Splice_Site SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:6344731G>A ENST00000382518.1 + 7 973 c.537G>A c.(535-537)aaG>aaA p.K179K CD9_ENST00000009180.4_Splice_Site_p.K179K|CD9_ENST00000382515.2_Splice_Site_p.K110K|CD9_ENST00000481267.1_3'UTR P21926 CD9_HUMAN CD9 molecule 179 cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation integral to plasma membrane|platelet alpha granule membrane endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 8 TCACCGTGAAGGTAAACTCAG 0.537000 25 7 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24583390 24583390 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr16:24583390A>G ENST00000319715.4 + 18 5435 c.5003A>G c.(5002-5004)aAa>aGa p.K1668R RBBP6_ENST00000348022.2_Missense_Mutation_p.K1634R|RBBP6_ENST00000381039.3_Missense_Mutation_p.K828R NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 1668 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) CTGAAAGATAAAATAGTGGAG 0.458000 58 46 0 0 1 0 0 ZW10 9183 broad.mit.edu 37 11 113618421 113618421 + Silent SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:113618421A>G ENST00000200135.3 - 9 1248 c.1104T>C c.(1102-1104)acT>acC p.T368T NM_004724.3 NP_004715.1 O43264 ZW10_HUMAN zw10 kinetochore protein 368 cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) CAAATTCTTCAGTGGACTGTA 0.274000 69 105 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23803352 23803352 + Splice_Site SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr4:23803352C>A ENST00000264867.2 - 12 2413 c.e12+1 PPARGC1A_ENST00000509702.1_Splice_Site NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) AAAATCCATACCTAGGTCTGC 0.403000 15 36 2.48551e-13 2.67983e-13 1 1 0 ACTR3 10096 broad.mit.edu 37 2 114674550 114674550 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:114674550G>T ENST00000263238.2 + 3 510 c.190G>T c.(190-192)Gat>Tat p.D64Y ACTR3_ENST00000535589.2_Missense_Mutation_p.D13Y|ACTR3_ENST00000536059.1_Intron NM_001277140.1|NM_005721.3 NP_001264069.1|NP_005712.1 P61158 ARP3_HUMAN ARP3 actin-related protein 3 homolog (yeast) 64 cellular component movement|cilium morphogenesis Arp2/3 protein complex actin binding|ATP binding autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2) 15 CTTCATTGGTGATGAAGCAAT 0.343000 24 9 6.32553e-13 6.79536e-13 1 1 0 ACSS3 79611 broad.mit.edu 37 12 81536974 81536974 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:81536974C>T ENST00000548058.1 + 5 1779 c.869C>T c.(868-870)tCa>tTa p.S290L ACSS3_ENST00000261206.3_Missense_Mutation_p.S289L Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 290 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 CCTGTTCTTTCAGAACACCCA 0.453000 36 61 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3968022 3968022 + Missense_Mutation SNP T T A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:3968022T>A ENST00000381638.2 - 29 4475 c.4351A>T c.(4351-4353)Agt>Tgt p.S1451C NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1451 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 TGGAGATGACTGGTTTCATCA 0.483000 4 89 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9334658 9334658 + Silent SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:9334658T>C ENST00000261336.2 - 14 1630 c.1602A>G c.(1600-1602)gcA>gcG p.A534A PZP_ENST00000381997.2_Silent_p.A403A NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TGAACATTCGTGCAATGGGGG 0.428000 21 30 0 0 1 0 0 KAAG1 353219 broad.mit.edu 37 6 24358114 24358114 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:24358114G>A ENST00000274766.1 + 1 984 c.247G>A c.(247-249)Gag>Aag p.E83K DCDC2_ENST00000378454.3_5'UTR NM_181337.3 NP_851854.1 Q9UBP8 KAAG1_HUMAN kidney associated antigen 1 83 immune response central_nervous_system(1)|lung(1)|prostate(1) 3 ACAGGTGAAAGAGAAGTAACG 0.622000 17 48 0 0 1 0 0 IL22RA1 58985 broad.mit.edu 37 1 24447703 24447703 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:24447703G>T ENST00000270800.1 - 7 1355 c.1317C>A c.(1315-1317)agC>agA p.S439R NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 439 integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) CTAACATGCAGCTTCCAGCTG 0.527000 31 28 7.16026e-08 7.50183e-08 1 1 0 NACC1 112939 broad.mit.edu 37 19 13246121 13246121 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:13246121G>A ENST00000292431.4 + 2 226 c.100G>A c.(100-102)Gtg>Atg p.V34M NM_052876.3 NP_443108.1 Q96RE7 NACC1_HUMAN nucleus accumbens associated 1, BEN and BTB (POZ) domain containing 34 BTB. negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent cytoplasm|nuclear body endometrium(3)|large_intestine(2)|lung(3)|skin(1) 9 TGACGTGTCAGTGGTGGTCAA 0.617000 16 48 0 0 1 0 0 PALMD 54873 broad.mit.edu 37 1 100127921 100127921 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:100127921T>C ENST00000263174.4 + 2 467 c.92T>C c.(91-93)aTa>aCa p.I31T PALMD_ENST00000605497.1_Missense_Mutation_p.I31T NM_017734.4 NP_060204.1 Q9NP74 PALMD_HUMAN palmdelphin 31 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) CGTCTGAAAATAGAGGAAGAC 0.259000 32 66 0 0 1 0 0 CLIP4 79745 broad.mit.edu 37 2 29386804 29386804 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:29386804C>T ENST00000320081.5 + 13 1897 c.1642C>T c.(1642-1644)Cca>Tca p.P548S CLIP4_ENST00000404424.1_Missense_Mutation_p.P548S|CLIP4_ENST00000401605.1_Missense_Mutation_p.P548S|CLIP4_ENST00000401617.2_Missense_Mutation_p.P441S NM_024692.4 NP_078968.3 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, member 4 548 endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) ATTTGCTCCCCCATCCAGGGT 0.363000 15 49 0 0 1 0 0 ARSD 414 broad.mit.edu 37 X 2826824 2826824 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chrX:2826824T>C ENST00000381154.1 - 9 1433 c.1358A>G c.(1357-1359)cAt>cGt p.H453R NM_001669.3 NP_001660.2 P51689 ARSD_HUMAN arylsulfatase D 453 lysosome arylsulfatase activity|metal ion binding large_intestine(3)|lung(3) 6 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CAGGAACTCATGTGCCGAGCG 0.567000 10 3 0 0 1 0 0 ZNF812 729648 broad.mit.edu 37 19 9801852 9801852 + Silent SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:9801852A>G ENST00000457674.2 - 5 845 c.327T>C c.(325-327)aaT>aaC p.N109N ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 109 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGTTCCCTCCATTCTGAGCTC 0.423000 51 46 0 0 1 0 0 RRH 10692 broad.mit.edu 37 4 110758661 110758661 + Missense_Mutation SNP A A T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr4:110758661A>T ENST00000317735.4 + 5 654 c.620A>T c.(619-621)tAc>tTc p.Y207F NM_006583.2 NP_006574.1 O14718 OPSX_HUMAN retinal pigment epithelium-derived rhodopsin homolog 207 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 12 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) GTGATGTTTTACTGCTATTAC 0.388000 21 32 0 0 1 0 0 FAM206A 54942 broad.mit.edu 37 9 111701853 111701853 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr9:111701853G>A ENST00000322940.6 + 6 739 c.433G>A c.(433-435)Gtt>Att p.V145I FAM206A_ENST00000374624.3_Intron NM_017832.3 NP_060302.1 Q9NX38 CI006_HUMAN family with sequence similarity 206, member A 145 glycine catabolic process glycine cleavage complex CTACATTGCAGTTGTGTTACC 0.353000 47 21 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11666910 11666910 + Silent SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:11666910C>G ENST00000262442.4 + 36 7217 c.7149C>G c.(7147-7149)ggC>ggG p.G2383G DNAH9_ENST00000454412.2_Silent_p.G2383G NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 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) GGGCTTTCGGCGGAGCAATGG 0.463000 9 22 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72130928 72130928 + Splice_Site SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr9:72130928T>C ENST00000265381.4 - 2 1421 c.1199A>G c.(1198-1200)gAt>gGt p.D400G NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 400 LIN-2/CASK binding.|Pro-rich. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 CCTACTTACATCTCCGTCCAT 0.627000 38 30 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 71175752 71175752 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:71175752C>G ENST00000333538.5 + 10 2141 c.1507C>G c.(1507-1509)Cgc>Ggc p.R503G WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 503 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) ACAGCTTGCCCGCTACACCAA 0.622000 11 24 0 0 1 0 0 DDAH1 23576 broad.mit.edu 37 1 85930490 85930490 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:85930490A>G ENST00000284031.8 - 1 333 c.239T>C c.(238-240)gTg>gCg p.V80A DDAH1_ENST00000535924.2_Intron|DDAH1_ENST00000539042.1_Missense_Mutation_p.V80A|DDAH1_ENST00000483110.1_Intron NM_012137.3 NP_036269.1 O94760 DDAH1_HUMAN dimethylarginine dimethylaminohydrolase 1 80 arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction dimethylargininase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1) 5 all cancers(265;0.0318)|Epithelial(280;0.0657) L-Citrulline(DB00155) CACCACGGCCACGTCCTCCAC 0.726000 7 6 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53958725 53958725 + RNA SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:53958725G>A ENST00000454407.1 + 0 1417 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) AATTCATACTGAAGAGAAACC 0.373000 38 154 0 0 1 0 0 ZFP57 346171 broad.mit.edu 37 6 29640703 29640703 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:29640703C>G ENST00000376883.1 - 6 1536 c.1125G>C c.(1123-1125)aaG>aaC p.K375N ZFP57_ENST00000376881.3_Missense_Mutation_p.K375N|ZFP57_ENST00000488757.1_Missense_Mutation_p.K395N Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 311 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 GATAGGATTTCTTGCTAAAAG 0.502000 124 154 0 0 1 0 0 FAM13B 51306 broad.mit.edu 37 5 137278656 137278656 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:137278656C>T ENST00000033079.3 - 21 2881 c.2430G>A c.(2428-2430)caG>caA p.Q810Q FAM13B_ENST00000420893.2_Silent_p.Q782Q|FAM13B_ENST00000425075.2_Silent_p.Q686Q NM_016603.2 NP_057687.2 Q9NYF5 FA13B_HUMAN family with sequence similarity 13, member B 810 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(4)|kidney(2)|lung(5) 11 CTAATGAAGACTGTACCTGTA 0.373000 61 42 0 0 1 0 0 OR52E8 390079 broad.mit.edu 37 11 5878254 5878254 + Silent SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:5878254G>A ENST00000537935.1 - 1 710 c.679C>T c.(679-681)Ctg>Ttg p.L227L TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACAGCATACAGGATCCTGACA 0.458000 5 70 0 0 1 0 0 UTP6 55813 broad.mit.edu 37 17 30190507 30190507 + Missense_Mutation SNP T T A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:30190507T>A ENST00000261708.4 - 19 1802 c.1665A>T c.(1663-1665)gaA>gaT p.E555D NM_018428.2 NP_060898.2 Q9NYH9 UTP6_HUMAN UTP6, small subunit (SSU) processome component, homolog (yeast) 555 rRNA processing nucleolus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1) 21 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) GGTGGTTCAATTCTTCTTTCA 0.368000 28 80 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35614625 35614625 + Splice_Site SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:35614625G>A ENST00000353139.5 - 14 2307 c.1826C>T c.(1825-1827)tCa>tTa p.S609L ACACA_ENST00000335166.5_Splice_Site_p.S494L|ACACA_ENST00000360679.3_Splice_Site_p.S514L|ACACA_ENST00000394406.2_Splice_Site_p.S572L NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 572 Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TTATACTCACGAAATTGCCTC 0.388000 12 41 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138602347 138602347 + Silent SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:138602347A>G ENST00000440172.1 - 2 2073 c.2025T>C c.(2023-2025)tcT>tcC p.S675S KIAA1549_ENST00000422774.1_Silent_p.S675S|KIAA1549_ENST00000242365.4_Silent_p.S625S NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 675 Ser-rich. integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 GCAGATCACTAGAGTCAAACA 0.483000 O BRAF pilocytic astrocytoma 20 33 0 0 1 0 0 PHTF1 10745 broad.mit.edu 37 1 114243458 114243458 + Silent SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:114243458G>A ENST00000369604.1 - 16 2487 c.2004C>T c.(2002-2004)acC>acT p.T668T PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369596.2_Silent_p.T615T|PHTF1_ENST00000369600.1_Silent_p.T615T|PHTF1_ENST00000393357.2_Silent_p.T668T|PHTF1_ENST00000369598.1_Silent_p.T623T Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 668 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATTTCTTATTGGTTTCAGACC 0.378000 39 77 0 0 1 0 0 OSBPL6 114880 broad.mit.edu 37 2 179257144 179257144 + Missense_Mutation SNP A A T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:179257144A>T ENST00000190611.4 + 23 2828 c.2452A>T c.(2452-2454)Atg>Ttg p.M818L OSBPL6_ENST00000315022.2_Missense_Mutation_p.M822L|OSBPL6_ENST00000409045.3_Missense_Mutation_p.M787L|OSBPL6_ENST00000359685.3_Missense_Mutation_p.M782L|OSBPL6_ENST00000409631.1_Missense_Mutation_p.M782L|OSBPL6_ENST00000392505.2_Missense_Mutation_p.M843L NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 818 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) TCCAGGTTCCATGCCAACAAA 0.448000 39 28 0 0 1 0 0 TRIM56 81844 broad.mit.edu 37 7 100732141 100732141 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:100732141C>T ENST00000306085.6 + 3 1845 c.1548C>T c.(1546-1548)ttC>ttT p.F516F NM_030961.1 NP_112223.1 Q9BRZ2 TRI56_HUMAN tripartite motif containing 56 516 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(181;0.136)|all_lung(186;0.182) TCTGTCCCTTCGGTCCCCGGG 0.652000 83 41 0 0 1 0 0 VTA1 51534 broad.mit.edu 37 6 142487421 142487421 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:142487421C>G ENST00000367630.4 + 2 227 c.169C>G c.(169-171)Cgc>Ggc p.R57G VTA1_ENST00000452973.2_Intron|VTA1_ENST00000367621.1_Intron NM_016485.3 NP_057569.2 Q9NP79 VTA1_HUMAN vesicle (multivesicular body) trafficking 1 57 Interaction with CHMP5.|Interaction with IST1. cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) TCCTGAATGTCGCAAATTTTT 0.299000 6 133 0 0 1 0 0 PQBP1 10084 broad.mit.edu 37 X 48759277 48759277 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chrX:48759277G>C ENST00000218224.4 + 3 504 c.250G>C c.(250-252)Gtg>Ctg p.V84L PQBP1_ENST00000376563.1_Missense_Mutation_p.V84L|PQBP1_ENST00000247140.4_Missense_Mutation_p.V84L|PQBP1_ENST00000396763.1_Missense_Mutation_p.V84L|PQBP1_ENST00000447146.2_Missense_Mutation_p.V84L|PQBP1_ENST00000376566.4_Missense_Mutation_p.V84L|PQBP1_ENST00000473764.1_3'UTR NM_005710.2 NP_005701.1 O60828 PQBP1_HUMAN polyglutamine binding protein 1 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|transcription coactivator activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2) 11 CCCCAACTCCGTGGTTACCAA 0.552000 23 30 0 0 1 0 0 WDR65 149465 broad.mit.edu 37 1 43664309 43664309 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:43664309T>C ENST00000372492.4 + 8 1744 c.1420T>C c.(1420-1422)Tgc>Cgc p.C474R WDR65_ENST00000528956.1_Missense_Mutation_p.C474R NM_001195831.2 NP_001182760.2 Q96MR6 WDR65_HUMAN WD repeat domain 65 474 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGTTAGAGGATGCGGAGAGGT 0.413000 19 50 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10413597 10413597 + Missense_Mutation SNP C C T rs144118750 byFrequency TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:10413597C>T ENST00000397077.1 - 11 1995 c.1420G>A c.(1420-1422)Gtc>Atc p.V474I ATP2B2_ENST00000360273.2_Missense_Mutation_p.V519I|ATP2B2_ENST00000343816.4_Missense_Mutation_p.V505I|ATP2B2_ENST00000352432.4_Missense_Mutation_p.V519I|ATP2B2_ENST00000383800.4_Missense_Mutation_p.V474I Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 519 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 TTATAGTGGACGTCGCCGACA 0.557000 95 80 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204926826 204926826 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:204926826A>G ENST00000367172.4 + 8 906 c.578A>G c.(577-579)cAt>cGt p.H193R NFASC_ENST00000404076.1_Missense_Mutation_p.H187R|NFASC_ENST00000401399.1_Missense_Mutation_p.H193R|NFASC_ENST00000404907.1_Missense_Mutation_p.H187R|NFASC_ENST00000339876.6_Missense_Mutation_p.H193R|NFASC_ENST00000403080.1_Missense_Mutation_p.H193R|NFASC_ENST00000367170.4_Missense_Mutation_p.H193R|NFASC_ENST00000338586.6_Missense_Mutation_p.H193R|NFASC_ENST00000338515.6_Missense_Mutation_p.H193R|NFASC_ENST00000539706.1_Missense_Mutation_p.H187R|NFASC_ENST00000513543.1_Missense_Mutation_p.H187R|NFASC_ENST00000367169.4_Missense_Mutation_p.H193R|NFASC_ENST00000367171.4_Missense_Mutation_p.H193R|NFASC_ENST00000360049.4_Missense_Mutation_p.H187R O94856 NFASC_HUMAN neurofascin 193 Ig-like C2-type 2. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TCTCAGGGCCATAACGGAGAC 0.507000 44 41 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56826168 56826168 + Silent SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:56826168A>G ENST00000229201.4 - 7 823 c.669T>C c.(667-669)ctT>ctC p.L223L TIMELESS_ENST00000554616.1_Silent_p.L224L|TIMELESS_ENST00000553532.1_Silent_p.L224L NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 224 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 CACGAAACATAAGGGAGACAA 0.552000 41 74 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147475458 147475458 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:147475458G>C ENST00000359874.3 + 10 945 c.872G>C c.(871-873)aGa>aCa p.R291T SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000256084.7_Missense_Mutation_p.R291T|SPINK5_ENST00000398454.1_Missense_Mutation_p.R291T NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 291 Kazal-like 5. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAGTTAAAAGAGAAATTGTG 0.363000 4 107 0 0 1 0 0 SLC25A46 91137 broad.mit.edu 37 5 110097363 110097363 + Nonsense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:110097363G>T ENST00000355943.3 + 8 1264 c.1138G>T c.(1138-1140)Gaa>Taa p.E380* SLC25A46_ENST00000509432.1_Nonsense_Mutation_p.E167*|SLC25A46_ENST00000447245.2_Nonsense_Mutation_p.E299*|SLC25A46_ENST00000509442.2_Nonsense_Mutation_p.E289*|SLC25A46_ENST00000513807.1_Nonsense_Mutation_p.E218*|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000504098.1_Nonsense_Mutation_p.E234* NM_138773.1 NP_620128.1 Q96AG3 S2546_HUMAN solute carrier family 25, member 46 380 transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211) AAGGCAGGAGGAAGGAGTGTT 0.368000 35 34 1.22384e-17 1.35651e-17 1 1 0 EZH1 2145 broad.mit.edu 37 17 40870491 40870491 + Silent SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:40870491T>C ENST00000428826.2 - 9 1033 c.912A>G c.(910-912)aaA>aaG p.K304K EZH1_ENST00000585893.1_Silent_p.K264K|EZH1_ENST00000415827.2_Silent_p.K295K|EZH1_ENST00000590078.1_Silent_p.K234K|EZH1_ENST00000435174.1_Silent_p.K165K|EZH1_ENST00000592743.1_Silent_p.K304K Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 304 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) AGCAGTCGTATTTAAAGCAGC 0.522000 27 24 0 0 1 0 0 ARHGEF3 50650 broad.mit.edu 37 3 56779360 56779360 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:56779360C>T ENST00000413728.2 - 7 1304 c.761G>A c.(760-762)cGc>cAc p.R254H ARHGEF3_ENST00000496106.1_Missense_Mutation_p.R254H|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.R280H|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.R248H|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.R248H|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.R219H NM_001128616.1 NP_001122088.1 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor (GEF) 3 248 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) ATCTAGTTTGCGGCTAAAGGG 0.468000 5 277 0 0 1 0 0 AGAP3 116988 broad.mit.edu 37 7 150784083 150784083 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:150784083C>T ENST00000397238.2 + 1 255 c.255C>T c.(253-255)gcC>gcT p.A85A AGAP3_ENST00000479901.1_Silent_p.A85A|AGAP3_ENST00000463381.1_Intron|AGAP3_ENST00000473312.1_Silent_p.A85A NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 49 Small GTPase-like. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 ATATCTACGCCATCTACGACC 0.667000 10 23 0 0 1 0 0 SLC5A10 125206 broad.mit.edu 37 17 18872411 18872411 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:18872411G>T ENST00000317977.6 + 6 903 c.332G>T c.(331-333)tGg>tTg p.W111L SLC5A10_ENST00000395647.2_Missense_Mutation_p.W167L|SLC5A10_ENST00000417251.2_Missense_Mutation_p.W167L|SLC5A10_ENST00000395642.1_Missense_Mutation_p.W111L|SLC5A10_ENST00000395645.3_Missense_Mutation_p.W167L|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395643.2_Missense_Mutation_p.W167L NM_001282417.1 NP_001269346.1 A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 10 167 sodium ion transport|transmembrane transport integral to membrane transporter activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3) 24 TGCCTGGGCTGGAACTTCTAC 0.617000 18 21 1.55795e-14 1.68896e-14 1 1 0 ELF4 2000 broad.mit.edu 37 X 129203614 129203614 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chrX:129203614C>G ENST00000308167.5 - 8 1227 c.848G>C c.(847-849)gGg>gCg p.G283A ELF4_ENST00000335997.7_Missense_Mutation_p.G283A NM_001421.3 NP_001412.1 Q99607 ELF4_HUMAN E74-like factor 4 (ets domain transcription factor) 283 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 22 CAGCCTCTGCCCTTCCACTTT 0.567000 T ERG AML 77 10 0 0 1 0 0 ADCY6 112 broad.mit.edu 37 12 49169754 49169754 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:49169754G>A ENST00000307885.4 - 8 2492 c.1798C>T c.(1798-1800)Cgc>Tgc p.R600C ADCY6_ENST00000357869.3_Missense_Mutation_p.R600C|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Missense_Mutation_p.R600C NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 600 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 ACCATCTGGCGGAAGGCCTTG 0.607000 3 19 0 0 1 0 0 RAB39A 54734 broad.mit.edu 37 11 107799330 107799330 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:107799330C>G ENST00000320578.2 + 1 102 c.36C>G c.(34-36)atC>atG p.I12M NM_017516.1 NP_059986.1 Q14964 RB39A_HUMAN RAB39A, member RAS oncogene family 12 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding TCCGCCTCATCGTGATCGGGG 0.716000 8 16 0 0 1 0 0 CLSPN 63967 broad.mit.edu 37 1 36228911 36228911 + Silent SNP T T A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:36228911T>A ENST00000251195.5 - 4 690 c.594A>T c.(592-594)gtA>gtT p.V198V CLSPN_ENST00000318121.3_Silent_p.V198V|CLSPN_ENST00000520551.1_Silent_p.V198V|CLSPN_ENST00000373220.3_Silent_p.V198V Q9HAW4 CLSPN_HUMAN claspin 198 activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ATGGCTGTTCTACATCATCTT 0.353000 53 143 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29599285 29599285 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr13:29599285G>T ENST00000431530.3 + 1 538 c.480G>T c.(478-480)agG>agT p.R160S NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 150 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 TGGCTAAAAGGGATGCTGAAA 0.507000 43 126 5.20006e-24 5.86243e-24 1 1 0 TCF25 22980 broad.mit.edu 37 16 89973698 89973698 + Silent SNP G G C rs144798392 TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr16:89973698G>C ENST00000263346.8 + 16 1823 c.1767G>C c.(1765-1767)tcG>tcC p.S589S TCF25_ENST00000263347.7_Silent_p.S354S|RP11-566K11.7_ENST00000570217.1_RNA NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 589 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TGCCTCCTTCGGACACAATCT 0.582000 76 297 0 0 1 0 0 RASSF6 166824 broad.mit.edu 37 4 74447995 74447995 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr4:74447995T>C ENST00000307439.5 - 7 874 c.580A>G c.(580-582)Att>Gtt p.I194V RASSF6_ENST00000395777.2_Intron|RASSF6_ENST00000342081.3_Missense_Mutation_p.I226V|RASSF6_ENST00000335049.5_Missense_Mutation_p.I182V NM_001270391.1|NM_177532.4 NP_001257320.1|NP_803876.1 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family member 6 226 apoptosis|signal transduction protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) AAGGCTGGAATGAAAATTGAT 0.284000 14 41 0 0 1 0 0 TSSK3 81629 broad.mit.edu 37 1 32829610 32829610 + Missense_Mutation SNP A A T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:32829610A>T ENST00000373534.3 + 2 1065 c.560A>T c.(559-561)gAt>gTt p.D187V FAM229A_ENST00000415596.1_Intron NM_052841.3 NP_443073.1 Q96PN8 TSSK3_HUMAN testis-specific serine kinase 3 187 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212) ATTCCCCACGATAGCAAAAAA 0.567000 14 79 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38211630 38211630 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr13:38211630C>T ENST00000379705.3 - 11 3201 c.2344G>A c.(2344-2346)Gat>Aat p.D782N TRPC4_ENST00000379681.3_Missense_Mutation_p.D787N|TRPC4_ENST00000379679.1_Missense_Mutation_p.D609N|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379673.2_Missense_Mutation_p.D717N|TRPC4_ENST00000338947.5_Missense_Mutation_p.D609N|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000358477.2_Missense_Mutation_p.D782N Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 782 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CCTTCGCTATCACTCTTTTCA 0.418000 22 120 0 0 1 0 0 PDIA2 64714 broad.mit.edu 37 16 334498 334498 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr16:334498C>T ENST00000219406.6 + 2 329 c.311C>T c.(310-312)gCg>gTg p.A104V PDIA2_ENST00000404312.1_Missense_Mutation_p.A104V NM_006849.2 NP_006840.2 Q13087 PDIA2_HUMAN protein disulfide isomerase family A, member 2 104 Thioredoxin 1. apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 17 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) GATGGGCCCGCGCAGCGCGAG 0.657000 5 6 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167674846 167674846 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:167674846G>A ENST00000519204.1 + 26 6657 c.6539G>A c.(6538-6540)cGc>cAc p.R2180H TENM2_ENST00000518659.1_Missense_Mutation_p.R2301H|TENM2_ENST00000520394.1_Missense_Mutation_p.R2062H|TENM2_ENST00000545108.1_Missense_Mutation_p.R2300H|TENM2_ENST00000403607.2_Missense_Mutation_p.R2125H teneurin transmembrane protein 2 GTCCAGTACCGCTATGATGGC 0.567000 85 20 0 0 1 0 0 ACOT11 26027 broad.mit.edu 37 1 55072931 55072931 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:55072931G>A ENST00000371316.3 + 14 1577 c.1495G>A c.(1495-1497)Gac>Aac p.D499N ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.D499N NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 499 START. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 GAAGCCTTGTGACAATGGGTG 0.632000 5 31 0 0 1 0 0 TMEM123 114908 broad.mit.edu 37 11 102319577 102319577 + Silent SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:102319577A>G ENST00000398136.2 - 2 543 c.123T>C c.(121-123)tcT>tcC p.S41S TMEM123_ENST00000361236.3_Intron|TMEM123_ENST00000532161.1_5'UTR|TMEM123_ENST00000525577.1_5'UTR NM_052932.2 NP_443164.2 Q8N131 PORIM_HUMAN transmembrane protein 123 41 oncosis external side of plasma membrane|integral to membrane receptor activity breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 9 all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0149) GTGGAAGCCCAGAATTCTCTA 0.343000 94 143 0 0 1 0 0 TPX2 22974 broad.mit.edu 37 20 30363766 30363766 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr20:30363766C>G ENST00000340513.4 + 8 1233 c.705C>G c.(703-705)ttC>ttG p.F235L TPX2_ENST00000300403.6_Missense_Mutation_p.F235L Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated 235 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) ATGAAGAATTCAAGAAACTTG 0.418000 8 92 0 0 1 0 0 COL4A3BP 10087 broad.mit.edu 37 5 74677903 74677903 + Splice_Site SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:74677903C>T ENST00000380494.5 - 16 2166 c.e16-1 COL4A3BP_ENST00000508692.1_Splice_Site|COL4A3BP_ENST00000405807.4_Splice_Site|COL4A3BP_ENST00000261415.7_Splice_Site NM_001130105.1 NP_001123577.1 Q9Y5P4 C43BP_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) binding protein ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1) 16 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) GCCACACCCTCTGTGGAGAAG 0.368000 13 61 0 0 1 0 0 TTPAL 79183 broad.mit.edu 37 20 43118020 43118020 + Silent SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr20:43118020A>G ENST00000372904.3 + 6 1010 c.867A>G c.(865-867)gtA>gtG p.V289V TTPAL_ENST00000262605.4_Silent_p.V289V|TTPAL_ENST00000372906.2_3'UTR NM_024331.4 NP_077307.2 Q9BTX7 TTPAL_HUMAN tocopherol (alpha) transfer protein-like 289 intracellular transporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5) 18 GGAACGCGGTACTGCTGGCTT 0.582000 18 78 0 0 1 0 0 WBP4 11193 broad.mit.edu 37 13 41639164 41639164 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr13:41639164C>G ENST00000379487.3 + 3 488 c.88C>G c.(88-90)Cat>Gat p.H30D WBP4_ENST00000542082.1_Intron NM_007187.3 NP_009118.1 O75554 WBP4_HUMAN WW domain binding protein 4 30 nuclear mRNA cis splicing, via spliceosome nuclear speck|spliceosomal complex nucleic acid binding|proline-rich region binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1) 12 Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07) TGTTGAATTTCATGAAAGAGG 0.269000 24 68 0 0 1 0 0 GOLGA6L17P 642402 broad.mit.edu 37 15 85053142 85053142 + RNA SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr15:85053142C>T ENST00000414190.2 - 0 310 NR_003246.2 TTTTTCAATTCCTTGACCCGC 0.413000 4 21 0 0 1 0 0 SLC35B1 10237 broad.mit.edu 37 17 47782502 47782502 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:47782502T>C ENST00000240333.6 - 5 633 c.512A>G c.(511-513)tAt>tGt p.Y171C SLC35B1_ENST00000415270.2_Missense_Mutation_p.Y208C P78383 S35B1_HUMAN solute carrier family 35, member B1 171 endoplasmic reticulum membrane|integral to membrane|microsome UDP-galactose transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1) 7 TAGCTCTCCATAGCCGACTGT 0.478000 24 82 0 0 1 0 0 TMEM179B 374395 broad.mit.edu 37 11 62557484 62557484 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:62557484G>A ENST00000333449.4 + 5 630 c.625G>A c.(625-627)Gat>Aat p.D209N TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000307366.7_3'UTR|TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron NM_199337.2 NP_955369.1 Q7Z7N9 T179B_HUMAN transmembrane protein 179B 209 integral to membrane kidney(1)|large_intestine(1)|liver(1)|lung(1) 4 CTCTGAGACAGATGCTCTCGT 0.592000 13 94 0 0 1 0 0 STEAP1B 256227 broad.mit.edu 37 7 22532994 22532994 + Nonsense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:22532994G>C ENST00000404369.4 - 3 961 c.546C>G c.(544-546)taC>taG p.Y182* STEAP1B_ENST00000406890.2_Nonsense_Mutation_p.Y163* NM_001164460.1 NP_001157932.1 Q6NZ63 STEAL_HUMAN STEAP family member 1B 163 integral to membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity endometrium(1)|kidney(1)|lung(2) 4 GCCTCATTGCGTAAGACAGAG 0.388000 14 44 0 0 1 0 0 IDH2 3418 broad.mit.edu 37 15 90628086 90628086 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr15:90628086C>A ENST00000330062.3 - 10 1346 c.1233G>T c.(1231-1233)atG>atT p.M411I IDH2_ENST00000539790.1_Missense_Mutation_p.M281I|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.M359I NM_002168.2 NP_002159.2 P48735 IDHP_HUMAN isocitrate dehydrogenase 2 (NADP+), mitochondrial 411 2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5) 1109 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106) GGTCCTTGGTCATGGCTCCAC 0.637000 M GBM 23 141 6.32553e-13 6.79536e-13 1 1 0 PCDHGB2 56103 broad.mit.edu 37 5 140740854 140740854 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:140740854C>T ENST00000522605.1 + 1 1152 c.1152C>T c.(1150-1152)tgC>tgT p.C384C PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGTTTACTGCCAAGTGTTGG 0.463000 24 71 0 0 1 0 0 CSNK2A3 283106 broad.mit.edu 37 11 11373838 11373838 + Missense_Mutation SNP A A T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:11373838A>T ENST00000528848.2 - 1 1066 c.829T>A c.(829-831)Tct>Act p.S277T GALNT18_ENST00000227756.4_Intron NM_001256686.1 NP_001243615.1 casein kinase 2, alpha 3 polypeptide CGCTTTCGAGAGTGTCTGCCC 0.448000 29 53 0 0 1 0 0 RBM44 375316 broad.mit.edu 37 2 238725972 238725972 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:238725972T>C ENST00000316997.4 + 3 545 c.413T>C c.(412-414)gTg>gCg p.V138A RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.V138A NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 137 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) GATCCTGAAGTGCAGAAAAAA 0.303000 14 8 0 0 1 0 0 ITGA10 8515 broad.mit.edu 37 1 145536044 145536044 + Silent SNP T T G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:145536044T>G ENST00000369304.3 + 17 2311 c.2136T>G c.(2134-2136)cgT>cgG p.R712R ITGA10_ENST00000539363.1_Silent_p.R569R|ITGA10_ENST00000538811.1_Silent_p.R581R NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 712 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTGGGGCACGTGCAGCATTTG 0.557000 31 165 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105965786 105965786 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:105965786T>C ENST00000357060.3 - 7 1013 c.898A>G c.(898-900)Aga>Gga p.R300G WDR96_ENST00000278064.2_Missense_Mutation_p.R231G|WDR96_ENST00000369720.1_Missense_Mutation_p.R231G|WDR96_ENST00000369719.1_Missense_Mutation_p.R231G|WDR96_ENST00000428666.1_Missense_Mutation_p.R301G NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 300 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 AAATTTCTTCTGTCTTCTGGA 0.308000 47 30 0 0 1 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209954732 209954732 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:209954732T>C ENST00000367024.1 + 16 2008 c.1492T>C c.(1492-1494)Tat>Cat p.Y498H TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.Y478H|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.Y478H|TRAF3IP3_ENST00000467830.1_3'UTR|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.Y498H Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 498 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) CAGTGACGAGTATCTCTCCTG 0.532000 73 16 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167655096 167655096 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:167655096G>C ENST00000519204.1 + 24 5236 c.5118G>C c.(5116-5118)caG>caC p.Q1706H TENM2_ENST00000518659.1_Missense_Mutation_p.Q1827H|TENM2_ENST00000520394.1_Missense_Mutation_p.Q1588H|TENM2_ENST00000545108.1_Missense_Mutation_p.Q1826H|TENM2_ENST00000403607.2_Missense_Mutation_p.Q1651H teneurin transmembrane protein 2 GAAAGGAACAGATTAAAGGCA 0.517000 6 33 0 0 1 0 0 C8orf86 389649 broad.mit.edu 37 8 38369918 38369918 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:38369918C>G ENST00000358138.1 - 3 683 c.659G>C c.(658-660)tGt>tCt p.C220S C8orf86_ENST00000437935.2_3'UTR NM_207412.1 NP_997295.1 Q6ZUL3 CH086_HUMAN chromosome 8 open reading frame 86 220 breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 5 aacttcagcacacaccagaat 0.537000 15 287 0 0 1 0 0 FAM160B1 57700 broad.mit.edu 37 10 116621286 116621286 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:116621286C>G ENST00000369248.4 + 17 2620 c.2285C>G c.(2284-2286)tCc>tGc p.S762C FAM160B1_ENST00000369250.3_Intron NM_020940.3 NP_065991.3 Q5W0V3 F16B1_HUMAN family with sequence similarity 160, member B1 762 NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 TATCATGCTTCCTCCACACCA 0.428000 15 43 0 0 1 0 0 GGCX 2677 broad.mit.edu 37 2 85779682 85779682 + Silent SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:85779682T>C ENST00000233838.4 - 10 1376 c.1296A>G c.(1294-1296)acA>acG p.T432T GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Silent_p.T375T NM_000821.5 NP_000812.2 P38435 VKGC_HUMAN gamma-glutamyl carboxylase blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) GCCGACTCTGTGTAAATACCT 0.507000 OREG0014747 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 124 0 0 1 0 0 ATP6V1B1 525 broad.mit.edu 37 2 71185528 71185528 + Silent SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:71185528A>G ENST00000234396.4 + 4 412 c.339A>G c.(337-339)ctA>ctG p.L113L AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Silent_p.L113L NM_001692.3 NP_001683.2 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 113 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1) 19 GGGACATCCTACGAACTCCGG 0.587000 35 53 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170201151 170201151 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:170201151G>A ENST00000231706.5 - 6 1382 c.1067C>T c.(1066-1068)cCg>cTg p.P356L CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CCTCGGCATCGGGAAGAGGGA 0.542000 OREG0015917 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 95 0 0 1 0 0 ITGB7 3695 broad.mit.edu 37 12 53586686 53586686 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:53586686G>T ENST00000267082.5 - 13 1966 c.1735C>A c.(1735-1737)Cgc>Agc p.R579S ITGB7_ENST00000550743.2_Intron|ITGB7_ENST00000338737.4_Intron|ITGB7_ENST00000422257.3_Missense_Mutation_p.R579S NM_000889.1 NP_000880.1 P26010 ITB7_HUMAN integrin, beta 7 579 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CATTGGCAGCGACCAAAGCCT 0.562000 19 17 3.51602e-12 3.77034e-12 1 1 0 GPSM1 26086 broad.mit.edu 37 9 139232303 139232303 + Splice_Site SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr9:139232303C>T ENST00000440944.1 + 6 923 c.703C>T c.(703-705)Cgc>Tgc p.R235C GPSM1_ENST00000392945.3_Splice_Site_p.R235C NM_001145638.1 NP_001139110 Q86YR5 GPSM1_HUMAN G-protein signaling modulator 1 235 Mediates association with membranes (By similarity). cell differentiation|nervous system development|signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane binding|GTPase activator activity biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06) GTCTCCGCAGCGCCTGGCCAT 0.687000 9 16 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112403814 112403814 + Silent SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:112403814C>G ENST00000302475.4 - 11 1985 c.1422G>C c.(1420-1422)ctG>ctC p.L474L MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.L664L|MCC_ENST00000515367.2_Silent_p.L411L NM_002387.2 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers 474 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) GGAACTGCCCCAGGATGAGGC 0.622000 4 40 0 0 1 0 0 DCLK2 166614 broad.mit.edu 37 4 151142828 151142828 + Splice_Site SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr4:151142828G>T ENST00000296550.7 + 7 1886 c.e7-1 DCLK2_ENST00000506325.1_Splice_Site|DCLK2_ENST00000302176.8_Splice_Site NM_001040260.3 NP_001035350.2 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) CCTTTTTGCAGGTGTGAATGG 0.323000 29 24 7.68411e-24 8.64645e-24 1 1 0 ZMIZ2 83637 broad.mit.edu 37 7 44799028 44799028 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:44799028C>G ENST00000309315.4 + 7 1085 c.962C>G c.(961-963)tCc>tGc p.S321C ZMIZ2_ENST00000413916.1_Missense_Mutation_p.S289C|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.S289C|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S321C|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S321C NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 321 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CAGTCCCTGTCCGTGCCTGGC 0.701000 18 39 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186971030 186971030 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:186971030T>C ENST00000337774.5 - 6 1207 c.818A>G c.(817-819)cAc>cGc p.H273R MASP1_ENST00000169293.6_Missense_Mutation_p.H273R|MASP1_ENST00000296280.6_Missense_Mutation_p.H273R|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.H247R|MASP1_ENST00000392472.2_Missense_Mutation_p.H160R NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 273 CUB 2.|Interaction with FCN2. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CAGGACACTGTGGCTCTGGGT 0.532000 111 224 0 0 1 0 0 VILL 50853 broad.mit.edu 37 3 38048127 38048127 + Missense_Mutation SNP G G A rs147292695 TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:38048127G>A ENST00000283713.6 + 19 2659 c.2393G>A c.(2392-2394)cGg>cAg p.R798Q VILL_ENST00000383759.2_Missense_Mutation_p.R798Q|VILL_ENST00000465644.1_Missense_Mutation_p.R516Q O15195 VILL_HUMAN villin-like 798 HP. actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GGCCTGCGCCGGGAACAACTG 0.657000 4 62 0 0 1 0 0 FAM50B 26240 broad.mit.edu 37 6 3850869 3850869 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:3850869G>A ENST00000380274.1 + 1 1250 c.824G>A c.(823-825)cGc>cAc p.R275H FAM50B_ENST00000380272.3_Missense_Mutation_p.R275H Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 275 nucleus cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3) 17 Ovarian(93;0.0925) all_hematologic(90;0.108) GATGACGTGCGCCTGCTCAGC 0.627000 21 47 0 0 1 0 0 CEP55 55165 broad.mit.edu 37 10 95278646 95278646 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:95278646T>C ENST00000371485.3 + 7 1310 c.1006T>C c.(1006-1008)Tac>Cac p.Y336H CEP55_ENST00000496302.1_3'UTR NM_001127182.1|NM_018131.4 NP_001120654|NP_060601 Q53EZ4 CEP55_HUMAN centrosomal protein 55kDa 336 cell division|mitosis centriole|cleavage furrow|midbody kidney(1)|large_intestine(5)|lung(6)|stomach(1) 13 Colorectal(252;0.207) CCAGTTTCTTTACACATCTCT 0.448000 44 25 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 4 79 0 0 1 0 0 GUCY1B3 2983 broad.mit.edu 37 4 156725845 156725845 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr4:156725845G>A ENST00000264424.8 + 12 1737 c.1655G>A c.(1654-1656)cGa>cAa p.R552Q GUCY1B3_ENST00000507146.1_Missense_Mutation_p.R527Q|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.R574Q|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.R532Q|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.R484Q|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.R519Q|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.R484Q NM_000857.2 NP_000848.1 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 552 Guanylate cyclase. blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) CTCACAAGCCGAACAGAAACC 0.398000 14 34 0 0 1 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50191118 50191118 + Silent SNP T T A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:50191118T>A ENST00000335999.6 - 8 726 c.525A>T c.(523-525)ccA>ccT p.P175P NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 171 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 CATCCAGCGCTGGGGGTGGGG 0.627000 19 11 0 0 1 0 0 ATXN3L 92552 broad.mit.edu 37 X 13337355 13337355 + Silent SNP A A C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chrX:13337355A>C ENST00000380622.2 - 1 1163 c.699T>G c.(697-699)ctT>ctG p.L233L GS1-600G8.3_ENST00000431486.1_RNA NM_001135995.1 NP_001129467.1 Q9H3M9 ATX3L_HUMAN ataxin 3-like 233 protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 GGCTTAGTTCAAGGGCCCTCT 0.423000 30 99 0 0 1 0 0 ZUFSP 221302 broad.mit.edu 37 6 116980037 116980037 + Nonsense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:116980037G>A ENST00000368576.3 - 4 964 c.721C>T c.(721-723)Cag>Tag p.Q241* ZUFSP_ENST00000471919.1_5'UTR|ZUFSP_ENST00000368573.1_Nonsense_Mutation_p.Q241* NM_145062.2 NP_659499.2 Q96AP4 ZUFSP_HUMAN zinc finger with UFM1-specific peptidase domain 241 intracellular zinc ion binding NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186) TCTTCTTGCTGAAGCTGGTGA 0.348000 25 20 0 0 1 0 0 TM9SF2 9375 broad.mit.edu 37 13 100153956 100153956 + Silent SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr13:100153956G>A ENST00000376387.4 + 1 286 c.96G>A c.(94-96)cgG>cgA p.R32R NM_004800.1 NP_004791.1 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 32 transport endosome membrane|integral to plasma membrane p.R32R(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) GCCCGCGCCGGAGCGGCGCTT 0.667000 62 21 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30732137 30732137 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr16:30732137G>C ENST00000262518.4 + 20 3476 c.3091G>C c.(3091-3093)Gag>Cag p.E1031Q SRCAP_ENST00000395059.2_Missense_Mutation_p.E1031Q|SRCAP_ENST00000344771.4_Missense_Mutation_p.E1031Q NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1031 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TCCAGGTCCTGAGCTCTCAGC 0.652000 22 98 0 0 1 0 0 EML2 24139 broad.mit.edu 37 19 46141790 46141790 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:46141790G>A ENST00000536630.1 - 6 731 c.593C>T c.(592-594)cCt>cTt p.P198L EML2_ENST00000587152.1_Missense_Mutation_p.P252L|EML2_ENST00000589876.1_Missense_Mutation_p.P51L|EML2_ENST00000245925.3_Missense_Mutation_p.P51L NM_001193269.1 NP_001180198.1 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 2 51 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) CCGGCAAGAAGGCAGCTCCGA 0.597000 25 61 0 0 1 0 0 IPO9 55705 broad.mit.edu 37 1 201824305 201824305 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:201824305C>A ENST00000361565.4 + 9 1034 c.965C>A c.(964-966)tCt>tAt p.S322Y NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 322 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 CCTGTGGATTCTGATGGTATG 0.363000 35 21 4.14481e-20 4.63749e-20 1 1 0 KIAA0355 9710 broad.mit.edu 37 19 34818935 34818935 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:34818935G>A ENST00000299505.6 + 6 1856 c.983G>A c.(982-984)aGg>aAg p.R328K NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 328 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) ACGGGGCGGAGGCAGACACCC 0.617000 59 84 0 0 1 0 0 GOLGA2 2801 broad.mit.edu 37 9 131019756 131019756 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr9:131019756G>A ENST00000421699.2 - 25 2698 c.2686C>T c.(2686-2688)Cgc>Tgc p.R896C GOLGA2_ENST00000609374.1_Missense_Mutation_p.R884C NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 896 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 CACTCGTTGCGGTCGCCCACA 0.657000 14 32 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27255210 27255210 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:27255210G>T ENST00000397501.1 + 7 917 c.109G>T c.(109-111)Gac>Tac p.D37Y PTK2B_ENST00000338238.4_Missense_Mutation_p.D37Y|PTK2B_ENST00000544172.1_Missense_Mutation_p.D37Y|PTK2B_ENST00000517339.1_Missense_Mutation_p.D37Y|PTK2B_ENST00000420218.2_Missense_Mutation_p.D37Y|PTK2B_ENST00000346049.5_Missense_Mutation_p.D37Y NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 37 apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) GGAAAAGGAGGACGTGCGTAT 0.542000 26 24 1.42536e-11 1.5257e-11 1 1 0 RBBP6 5930 broad.mit.edu 37 16 24581389 24581389 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr16:24581389G>C ENST00000319715.4 + 17 3810 c.3378G>C c.(3376-3378)aaG>aaC p.K1126N RBBP6_ENST00000348022.2_Missense_Mutation_p.K1092N|RBBP6_ENST00000381039.3_Intron NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 1126 Interaction with RB1 (By similarity). protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) TAACAACTAAGGAAGAAAAGG 0.333000 29 24 0 0 1 0 0 ZNF528 84436 broad.mit.edu 37 19 52919027 52919027 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:52919027C>G ENST00000360465.3 + 7 1348 c.922C>G c.(922-924)Caa>Gaa p.Q308E ZNF528_ENST00000391788.2_3'UTR NM_032423.2 NP_115799.2 Q3MIS6 ZN528_HUMAN zinc finger protein 528 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) GGTCTTCAATCAAATTGCACA 0.383000 20 87 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152328889 152328889 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:152328889G>A ENST00000388718.5 - 3 1445 c.1373C>T c.(1372-1374)tCt>tTt p.S458F FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 458 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTTGATGTAGACTCATGCTG 0.502000 165 96 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70505475 70505475 + Splice_Site SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:70505475G>C ENST00000310961.5 + 22 4287 c.3869G>C c.(3868-3870)aGg>aCg p.R1290T LRRC7_ENST00000415775.2_Splice_Site_p.R569T|LRRC7_ENST00000035383.5_Splice_Site_p.R1285T Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1285 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CGGTTAGACAGGGTATGTCTG 0.448000 22 70 0 0 1 0 0 PIGS 94005 broad.mit.edu 37 17 26888488 26888488 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:26888488C>T ENST00000308360.7 - 6 1003 c.628G>A c.(628-630)Gag>Aag p.E210K PIGS_ENST00000395346.2_Missense_Mutation_p.E202K|PIGS_ENST00000543734.1_Missense_Mutation_p.E149K|PIGS_ENST00000465444.1_5'UTR NM_033198.3 NP_149975.1 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, class S 210 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) CACTTGTCCTCTGGAAGGTGG 0.577000 12 45 0 0 1 0 0 KRT33B 3884 broad.mit.edu 37 17 39521058 39521058 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:39521058C>A ENST00000251646.3 - 6 1119 c.1070G>T c.(1069-1071)cGg>cTg p.R357L NM_002279.4 NP_002270.1 Q14525 KT33B_HUMAN keratin 33B 357 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000496) CAGCAGGCTCCGGTATGTGTT 0.597000 9 231 1.12685e-05 1.1581e-05 1 1 0 PWWP2B 170394 broad.mit.edu 37 10 134219392 134219392 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:134219392A>G ENST00000305233.5 + 2 1447 c.1388A>G c.(1387-1389)cAa>cGa p.Q463R PWWP2B_ENST00000368609.4_Missense_Mutation_p.Q463R NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 463 central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) GAGGCTCGCCAAACGGTGCCG 0.697000 6 29 0 0 1 0 0 SPHK2 56848 broad.mit.edu 37 19 49132318 49132318 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:49132318G>A ENST00000443164.1 + 5 2144 c.1439G>A c.(1438-1440)cGt>cAt p.R480H SPHK2_ENST00000598088.1_Missense_Mutation_p.R418H|SPHK2_ENST00000599029.1_Missense_Mutation_p.R382H|SPHK2_ENST00000340932.3_Missense_Mutation_p.R380H|SPHK2_ENST00000245222.4_Missense_Mutation_p.R418H|SPHK2_ENST00000599748.1_Missense_Mutation_p.R382H|SPHK2_ENST00000600537.1_Missense_Mutation_p.R359H Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 418 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) cccctgcatcgttctgtgtct 0.692000 9 17 0 0 1 0 0 CREB3L2 64764 broad.mit.edu 37 7 137570248 137570248 + Splice_Site SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:137570248C>T ENST00000330387.6 - 9 1395 c.1044G>A c.(1042-1044)agG>agA p.R348R CREB3L2_ENST00000456390.1_Splice_Site_p.R348R NM_194071.3 NP_919047.2 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 2 348 Leucine-zipper. chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 GAAGGAGAGTCCTGCCAATGA 0.537000 T FUS fibromyxoid sarcoma 25 43 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752626 62752626 + RNA SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:62752626C>G ENST00000331425.6 - 0 809 NR_003952.1 TGCTGAGGAGCGCCTAAAGGC 0.463000 5 68 0 0 1 0 0 ADAM9 8754 broad.mit.edu 37 8 38959385 38959385 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:38959385A>G ENST00000487273.2 + 21 2380 c.2302A>G c.(2302-2304)Ata>Gta p.I768V NM_003816.2 NP_003807.1 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 768 Missing (in Ref. 2; no nucleotide entry). activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) TTTTTAGCCTATATATGCAAA 0.318000 9 201 0 0 1 0 0 NOC2L 26155 broad.mit.edu 37 1 880117 880117 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:880117G>C ENST00000327044.6 - 19 2256 c.2207C>G c.(2206-2208)cCg>cGg p.P736R NM_015658.3 NP_056473 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) 736 Asp/Glu-rich (acidic). nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) CTCGTCCTCCGGCCCCTGGGC 0.657000 4 18 0 0 1 0 0 BEND3 57673 broad.mit.edu 37 6 107390776 107390776 + Missense_Mutation SNP T T G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:107390776T>G ENST00000429433.2 - 5 2268 c.1619A>C c.(1618-1620)gAg>gCg p.E540A BEND3_ENST00000369042.1_Missense_Mutation_p.E540A NM_001080450.2 NP_001073919.1 Q5T5X7 BEND3_HUMAN BEN domain containing 3 540 central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 CTGGGGGATCTCTAACTTGTC 0.617000 11 24 0 0 1 0 0 C18orf25 147339 broad.mit.edu 37 18 43842929 43842929 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr18:43842929T>C ENST00000282059.6 + 5 1434 c.1060T>C c.(1060-1062)Tct>Cct p.S354P C18orf25_ENST00000321319.6_Missense_Mutation_p.S293P NM_145055.3 NP_659492 Q96B23 CR025_HUMAN chromosome 18 open reading frame 25 354 central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 11 TCAGAGTGTTTCTTCATGGAA 0.483000 25 29 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12337514 12337514 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:12337514C>G ENST00000358136.3 + 19 3999 c.3869C>G c.(3868-3870)tCt>tGt p.S1290C VPS13D_ENST00000356315.4_Missense_Mutation_p.S1290C NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1290 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AAGATGGCTTCTTTACATTAT 0.418000 12 226 0 0 1 0 0 NCDN 23154 broad.mit.edu 37 1 36025984 36025984 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:36025984G>C ENST00000373243.2 + 3 615 c.232G>C c.(232-234)Gat>Cat p.D78H NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000356090.4_Missense_Mutation_p.D78H|NCDN_ENST00000373253.3_Missense_Mutation_p.D61H NM_014284.2 NP_055099.1 Q9UBB6 NCDN_HUMAN neurochondrin 78 neuron projection development cytosol|dendrite|neuronal cell body breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GCGGATCTTCGATGCTGTCGG 0.567000 14 230 0 0 1 0 0 TCERG1 10915 broad.mit.edu 37 5 145883513 145883513 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:145883513G>A ENST00000296702.5 + 18 2712 c.2674G>A c.(2674-2676)Gag>Aag p.E892K TCERG1_ENST00000394421.2_Missense_Mutation_p.E871K|TCERG1_ENST00000509787.1_3'UTR NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 892 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCGAGAGAGAGAGCAGCACAA 0.418000 69 40 0 0 1 0 0 NOP9 161424 broad.mit.edu 37 14 24771251 24771251 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr14:24771251G>T ENST00000267425.3 + 4 982 c.889G>T c.(889-891)Gct>Tct p.A297S NOP9_ENST00000396802.3_Missense_Mutation_p.A297S NM_174913.1 NP_777573.1 NOP9 nucleolar protein CCAGTTTTGCGCTCATCTCTG 0.512000 13 286 0.00010058 0.000102481 1 1 0 MYOM1 8736 broad.mit.edu 37 18 3089557 3089557 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr18:3089557C>T ENST00000356443.4 - 28 4380 c.4047G>A c.(4045-4047)cgG>cgA p.R1349R MYOM1_ENST00000261606.7_Silent_p.R1253R|MYOM1_ENST00000400569.3_Silent_p.R1349R NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 1349 striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TCCATTCTTGCCGCTGGAATT 0.343000 3 45 0 0 1 0 0 HEMGN 55363 broad.mit.edu 37 9 100693374 100693374 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr9:100693374C>T ENST00000259456.3 - 4 446 c.303G>A c.(301-303)ctG>ctA p.L101L NM_018437.3|NM_197978.2 NP_060907.2|NP_932095.1 Q9BXL5 HEMGN_HUMAN hemogen 101 cell differentiation|multicellular organismal development NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(62;0.0559) CTATAGGTGCCAGTGCTTTCT 0.448000 29 83 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38572484 38572484 + Silent SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:38572484G>A ENST00000222345.6 + 3 788 c.279G>A c.(277-279)ctG>ctA p.L93L NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 93 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GGGAGGCCCTGAGAGAGCACA 0.677000 21 59 0 0 1 0 0 MINPP1 9562 broad.mit.edu 37 10 89311874 89311874 + Missense_Mutation SNP T T G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:89311874T>G ENST00000371996.4 + 5 1144 c.1103T>G c.(1102-1104)tTt>tGt p.F368C MINPP1_ENST00000536010.1_Missense_Mutation_p.F167C|MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000371994.4_Missense_Mutation_p.L291V NM_004897.4 NP_004888.2 Q9UNW1 MINP1_HUMAN multiple inositol-polyphosphate phosphatase 1 368 bone mineralization|polyphosphate metabolic process endoplasmic reticulum lumen acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2) 5 Colorectal(252;0.122) UCEC - Uterine corpus endometrioid carcinoma (6;0.00123) ATCCTCCAGTTTGGTCATGCA 0.373000 8 109 0 0 1 0 0 RPF2 84154 broad.mit.edu 37 6 111345493 111345493 + Missense_Mutation SNP T T A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:111345493T>A ENST00000441448.2 + 9 796 c.704T>A c.(703-705)cTt>cAt p.L235H NM_032194.1 NP_115570.1 Q9H7B2 RPF2_HUMAN ribosome production factor 2 homolog (S. cerevisiae) 235 nucleolus protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2) 7 TCGGATGACCTTTATAAATTA 0.383000 47 38 0 0 1 0 0 GPR161 23432 broad.mit.edu 37 1 168059825 168059825 + Missense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:168059825C>A ENST00000367838.1 - 6 1494 c.1181G>T c.(1180-1182)gGc>gTc p.G394V GPR161_ENST00000546300.1_Missense_Mutation_p.G280V|GPR161_ENST00000367835.1_Missense_Mutation_p.G394V|GPR161_ENST00000539777.1_Missense_Mutation_p.G316V|GPR161_ENST00000271357.5_Missense_Mutation_p.G394V|GPR161_ENST00000367836.1_Missense_Mutation_p.G262V|GPR161_ENST00000361697.2_Missense_Mutation_p.G394V|GPR161_ENST00000537209.1_Missense_Mutation_p.G414V NM_001267611.1|NM_153832.2 NP_001254540.1|NP_722561.1 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 394 multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) GCAGCTGAAGCCAGTGTCCCC 0.602000 6 49 2.0095e-06 2.08692e-06 1 1 0 FUCA2 2519 broad.mit.edu 37 6 143825324 143825324 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:143825324C>T ENST00000002165.6 - 3 533 c.478G>A c.(478-480)Gac>Aac p.D160N FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA NM_032020.4 NP_114409.2 Q9BTY2 FUCO2_HUMAN fucosidase, alpha-L- 2, plasma fucose metabolic process extracellular region alpha-L-fucosidase activity|cation binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142) TTGACAATGTCCCTCTTGGGC 0.443000 40 41 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109577567 109577567 + Silent SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:109577567G>T ENST00000338432.7 + 2 476 c.357G>T c.(355-357)ggG>ggT p.G119G ACACB_ENST00000377854.5_Silent_p.G119G|ACACB_ENST00000377848.3_Silent_p.G119G O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 119 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) AAGCCAACGGGACTGGGACAC 0.617000 92 90 3.3819e-59 3.88656e-59 1 1 0 PITX2 5308 broad.mit.edu 37 4 111539531 111539531 + Missense_Mutation SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr4:111539531G>C ENST00000354925.2 - 7 2409 c.704C>G c.(703-705)cCg>cGg p.P235R PITX2_ENST00000355080.5_Missense_Mutation_p.P189R|PITX2_ENST00000394595.3_Silent_p.P166P|PITX2_ENST00000306732.3_Missense_Mutation_p.P242R|PITX2_ENST00000394598.2_Missense_Mutation_p.P235R NM_001204397.1 NP_001191326.1 Q99697 PITX2_HUMAN paired-like homeodomain 2 235 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) ACTGGAGCCCGGGACGCCTGT 0.592000 15 30 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124392875 124392875 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:124392875G>T ENST00000287394.5 - 2 321 c.214C>A c.(214-216)Cgt>Agt p.R72S ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 72 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CTTAAAGCACGTGTCCGGTGG 0.353000 25 91 2.36697e-06 2.45387e-06 1 1 0 CD96 10225 broad.mit.edu 37 3 111263997 111263997 + Missense_Mutation SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:111263997A>G ENST00000352690.4 + 2 406 c.166A>G c.(166-168)Atg>Gtg p.M56V CD96_ENST00000283285.5_Missense_Mutation_p.M56V|CD96_ENST00000438817.2_Missense_Mutation_p.M56V NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 56 Ig-like V-type 1. cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 CTTCGTGCAGATGCAATGGTC 0.458000 Opitz Trigonocephaly syndrome 77 157 0 0 1 0 0 ITGB7 3695 broad.mit.edu 37 12 53586117 53586117 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:53586117C>T ENST00000267082.5 - 14 2383 c.2152G>A c.(2152-2154)Gaa>Aaa p.E718K ITGB7_ENST00000550743.2_Missense_Mutation_p.E570K|ITGB7_ENST00000338737.4_Missense_Mutation_p.E570K|ITGB7_ENST00000422257.3_Missense_Mutation_p.E718K NM_000889.1 NP_000880.1 P26010 ITB7_HUMAN integrin, beta 7 718 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CACTTACTTTCTTGGGGTCTC 0.562000 4 95 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 6 198 0 0 1 0 0 CLDN22 53842 broad.mit.edu 37 4 184240734 184240734 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr4:184240734G>T ENST00000323319.5 - 1 1193 c.638C>A c.(637-639)aCg>aAg p.T213K WWC2_ENST00000403733.3_3'UTR NM_001111319.1 NP_001104789.1 Q8N7P3 CLD22_HUMAN claudin 22 213 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1) 7 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176) all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) GGTGTTTCTCGTCTCCAGTTC 0.542000 17 245 3.41278e-10 3.62685e-10 1 1 0 SPTB 6710 broad.mit.edu 37 14 65249256 65249256 + Missense_Mutation SNP T T A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr14:65249256T>A ENST00000389722.3 - 19 4071 c.4018A>T c.(4018-4020)Atg>Ttg p.M1340L SPTB_ENST00000389721.5_Missense_Mutation_p.M1340L|SPTB_ENST00000556626.1_Missense_Mutation_p.M1340L|SPTB_ENST00000389720.3_Missense_Mutation_p.M1340L|SPTB_ENST00000542895.1_Missense_Mutation_p.M1340L NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1340 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TTCTCATCCATCAGCTGCTTT 0.587000 72 31 0 0 1 0 0 TLE1 7088 broad.mit.edu 37 9 84248994 84248994 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr9:84248994G>T ENST00000376463.1 - 6 504 c.427C>A c.(427-429)Cca>Aca p.P143T TLE1_ENST00000376499.3_Intron|TLE1_ENST00000376472.1_Intron Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 0 Gly/Pro-rich. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 TCCTAATCTGGCTTGCCCGGC 0.493000 12 7 7.03913e-09 7.44065e-09 1 1 0 OR52E6 390078 broad.mit.edu 37 11 5862665 5862665 + Silent SNP A A G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:5862665A>G ENST00000329322.5 - 1 462 c.463T>C c.(463-465)Ttg>Ctg p.L155L OR52E6_ENST00000379946.2_Silent_p.L159L|TRIM5_ENST00000380027.1_Intron NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCATGTACAAGCTCCTCAGG 0.488000 6 109 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23526878 23526878 + Missense_Mutation SNP T T C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:23526878T>C ENST00000296682.3 + 11 1863 c.1681T>C c.(1681-1683)Ttt>Ctt p.F561L NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 561 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TGGGCGGGGCTTTAGCTGGAA 0.527000 HNSCC(3;0.000094) 43 87 0 0 1 0 0 CUEDC1 404093 broad.mit.edu 37 17 55950147 55950147 + Nonsense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:55950147C>A ENST00000577830.1 - 5 1074 c.661G>T c.(661-663)Gga>Tga p.G221* CUEDC1_ENST00000360238.2_Nonsense_Mutation_p.G221*|CUEDC1_ENST00000577840.1_Nonsense_Mutation_p.G84*|CUEDC1_ENST00000407144.2_Nonsense_Mutation_p.G221* NM_001271875.1 NP_001258804.1 Q9NWM3 CUED1_HUMAN CUE domain containing 1 221 endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 TCCTGGTCTCCGGGCCCTGGC 0.622000 8 65 0.27861 0.27861 1 1 0 ZNF620 253639 broad.mit.edu 37 3 40557563 40557563 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:40557563G>A ENST00000314529.6 + 5 627 c.478G>A c.(478-480)Gag>Aag p.E160K ZNF620_ENST00000418905.1_Missense_Mutation_p.E46K NM_175888.3 NP_787084.1 Q6ZNG0 ZN620_HUMAN zinc finger protein 620 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) CAGGCACCATGAGGCCTATGA 0.433000 13 33 0 0 1 0 0 TSPAN14 81619 broad.mit.edu 37 10 82269181 82269181 + Missense_Mutation SNP G G T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:82269181G>T ENST00000429989.3 + 5 627 c.404G>T c.(403-405)cGg>cTg p.R135L TSPAN14_ENST00000372156.1_Missense_Mutation_p.R135L|TSPAN14_ENST00000372164.3_Missense_Mutation_p.R118L|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372158.1_Missense_Mutation_p.R135L|TSPAN14_ENST00000341863.6_Intron NM_030927.2 NP_112189.2 Q8NG11 TSN14_HUMAN tetraspanin 14 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 Colorectal(32;0.229) AAGTCCTACCGGGACGATATC 0.592000 8 59 1.76689e-08 1.86104e-08 1 1 0 IGF2R 3482 broad.mit.edu 37 6 160510169 160510169 + Silent SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:160510169C>T ENST00000356956.1 + 43 6499 c.6351C>T c.(6349-6351)ttC>ttT p.F2117F NM_000876.2 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 2117 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CTTACTACTTCAGCTGGGACT 0.542000 OREG0017769 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 24 0 0 1 0 0 KRT3 3850 broad.mit.edu 37 12 53184086 53184086 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr12:53184086C>G ENST00000417996.2 - 9 1701 c.1627G>C c.(1627-1629)Ggc>Cgc p.G543R KRT3_ENST00000309505.3_Missense_Mutation_p.G544R NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 543 Gly-rich.|Tail. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 atgcctccgccgtaacctcct 0.687000 3 6 0 0 1 0 0 FERMT3 83706 broad.mit.edu 37 11 63988079 63988079 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:63988079G>A ENST00000279227.5 + 12 1590 c.1495G>A c.(1495-1497)Gag>Aag p.E499K FERMT3_ENST00000345728.5_Missense_Mutation_p.E495K NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 499 FERM. integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 TGCCTCTGCCGAGGGCCTCAA 0.657000 7 29 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38768192 38768192 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:38768192G>A ENST00000449082.2 - 16 2991 c.2992C>T c.(2992-2994)Ccc>Tcc p.P998S NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 998 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCAGCAATGGGCACAGAGACC 0.562000 44 32 0 0 1 0 0 NEUROD1 4760 broad.mit.edu 37 2 182543081 182543081 + Silent SNP A A T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:182543081A>T ENST00000295108.3 - 2 964 c.507T>A c.(505-507)gtT>gtA p.V169V CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 169 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) AAAGCGTCTGAACGAAGGAGA 0.562000 38 47 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73849846 73849846 + Nonsense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:73849846G>A ENST00000334126.7 - 5 1100 c.874C>T c.(874-876)Caa>Taa p.Q292* C2CD3_ENST00000313663.7_Nonsense_Mutation_p.Q292*|C2CD3_ENST00000539061.1_Nonsense_Mutation_p.Q292* Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 292 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) GTTCTAATTTGAGGCTGGAAT 0.428000 48 34 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55946203 55946203 + Missense_Mutation SNP G G A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr4:55946203G>A ENST00000263923.4 - 30 4271 c.3976C>T c.(3976-3978)Ctt>Ttt p.L1326F RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1326 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AGCTTTAAAAGTTCTGCTTCC 0.522000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 52 248 0 0 1 0 0 DBR1 51163 broad.mit.edu 37 3 137893537 137893537 + Nonsense_Mutation SNP A A T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:137893537A>T ENST00000260803.4 - 1 254 c.101T>A c.(100-102)tTg>tAg p.L34* DBR1_ENST00000505015.2_Intron|DBR1_ENST00000463982.2_5'UTR NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 34 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 GCAGCACAGCAAGAGGTCGAC 0.652000 13 13 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15820841 15820841 + Missense_Mutation SNP C C G TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr16:15820841C>G ENST00000452625.2 - 29 3830 c.3743G>C c.(3742-3744)cGg>cCg p.R1248P MYH11_ENST00000396324.3_Missense_Mutation_p.R1248P|MYH11_ENST00000576790.2_Missense_Mutation_p.R1241P|MYH11_ENST00000300036.5_Missense_Mutation_p.R1241P|AF001548.5_ENST00000574212.1_RNA NM_001040113.1 NP_001035202.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1241 Missing (in AAT4). axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GCCCAGGACCCGCAGCTCCCC 0.617000 T CBFB AML 73 156 0 0 1 0 0 TRABD 80305 broad.mit.edu 37 22 50635684 50635684 + Silent SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr22:50635684G>C ENST00000303434.4 + 6 554 c.435G>C c.(433-435)tcG>tcC p.S145S TRABD_ENST00000380909.4_Silent_p.S145S|TRABD_ENST00000395829.1_Silent_p.S145S|TRABD_ENST00000395827.1_Silent_p.S145S NM_025204.2 NP_079480.2 Q9H4I3 TRABD_HUMAN TraB domain containing 145 breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1) 7 all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) LUAD - Lung adenocarcinoma(64;0.105) GGCTCATGTCGGGGCTGATGC 0.652000 7 37 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48277267 48277267 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:48277267C>T ENST00000225964.5 - 2 263 c.145G>A c.(145-147)Gac>Aac p.D49N NM_000088.3 NP_000079 P02452 CO1A1_HUMAN collagen, type I, alpha 1 49 VWFC. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding p.D49H(1) COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) ACGTCTCGGTCATGGTACCTG 0.597000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 93 110 0 0 1 0 0 OLFM3 118427 broad.mit.edu 37 1 102269866 102269866 + Silent SNP G G C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:102269866G>C ENST00000370103.4 - 6 1518 c.1305C>G c.(1303-1305)gcC>gcG p.A435A OLFM3_ENST00000338858.5_Silent_p.A455A|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 455 Olfactomedin-like. extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) CATTGTTCCAGGCATAGAGAG 0.418000 16 74 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32194595 32194595 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr22:32194595C>T ENST00000400246.1 + 14 1041 c.899C>T c.(898-900)aCc>aTc p.T300I DEPDC5_ENST00000536766.1_Missense_Mutation_p.T272I|DEPDC5_ENST00000535622.1_Missense_Mutation_p.T300I|DEPDC5_ENST00000382111.2_Missense_Mutation_p.T300I|DEPDC5_ENST00000400248.2_Missense_Mutation_p.T300I|DEPDC5_ENST00000382105.2_Missense_Mutation_p.T300I|DEPDC5_ENST00000400242.3_Missense_Mutation_p.T300I|DEPDC5_ENST00000266091.3_Missense_Mutation_p.T300I|DEPDC5_ENST00000400249.2_Missense_Mutation_p.T300I|DEPDC5_ENST00000382112.3_Missense_Mutation_p.T300I O75140 DEPD5_HUMAN DEP domain containing 5 300 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 GATAATTCTACCTCAGCACAA 0.408000 43 156 0 0 1 0 0 CYP3A43 64816 broad.mit.edu 37 7 99425711 99425711 + Translation_Start_Site SNP A A T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:99425711A>T ENST00000354829.2 + 0 76 CYP3A43_ENST00000421837.2_De_novo_Start_OutOfFrame|CYP3A43_ENST00000415413.1_De_novo_Start_OutOfFrame|CYP3A43_ENST00000444905.1_De_novo_Start_InFrame|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000417625.1_De_novo_Start_OutOfFrame|CYP3A43_ENST00000342499.4_De_novo_Start_OutOfFrame NM_022820.3|NM_057095.1 NP_073731.1|NP_476436.1 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 43 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) AAAAACTCAGAAGACAGAGCT 0.433000 22 72 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37769782 37769782 + Missense_Mutation SNP C C T TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr22:37769782C>T ENST00000402918.2 - 3 2578 c.1793G>A c.(1792-1794)cGg>cAg p.R598Q RP1-63G5.5_ENST00000430883.1_RNA NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) GAAGCTGGGCCGCTCCAGGGC 0.716000 18 13 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 67 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27101128 27101129 + Frame_Shift_Ins INS - - A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:27101128_27101129insA ENST00000324856.7 + 18 4781_4782 c.4410_4411insA c.(4411-4413)aatfs p.N1471fs ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.N1088fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1471 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCCCTGGCACCAATGCCCAGCA 0.599 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 44 32 --- --- --- --- KIAA1522 57648 broad.mit.edu 37 1 33237370 33237371 + Frame_Shift_Ins INS - - GC TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:33237370_33237371insGC ENST00000401073.2 + 6 2660_2661 c.2590_2591insGC c.(2590-2592)agcfs p.S864fs KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.S805fs|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.S816fs NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 805 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) GGTGGGCTGTAGCAAGGGTGGT 0.698 11 20 --- --- --- --- ELAVL4 1996 broad.mit.edu 37 1 50663104 50663105 + Frame_Shift_Ins INS - - GACAATTT TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:50663104_50663105insGACAATTT ENST00000371824.1 + 6 995_996 c.738_739insGACAATTT c.(739-741)gacfs p.-249fs ELAVL4_ENST00000371823.4_Frame_Shift_Ins_p.-249fs|ELAVL4_ENST00000357083.4_Frame_Shift_Ins_p.-266fs|ELAVL4_ENST00000371821.1_Frame_Shift_Ins_p.-254fs|ELAVL4_ENST00000448907.2_Frame_Shift_Ins_p.-252fs|ELAVL4_ENST00000371819.1_Frame_Shift_Ins_p.-254fs|ELAVL4_ENST00000371827.1_Frame_Shift_Ins_p.-249fs P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 TTTGCAGGCTGGACAATTTGCT 0.411 15 172 --- --- --- --- DENND4B 9909 broad.mit.edu 37 1 153906758 153906758 + Frame_Shift_Del DEL A A - TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:153906758delA ENST00000361217.4 - 19 3212 c.2794delT c.(2794-2796)tccfs p.S932fs NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 932 NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CGAGTAGGGGAAGGGCGCTCC 0.587 2 4 --- --- --- --- DSTYK 25778 broad.mit.edu 37 1 205180419 205180424 + In_Frame_Del DEL GCGACA GCGACA - TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr1:205180419_205180424delGCGACA ENST00000367162.3 - 1 270_275 c.240_245delTGTCGC c.(238-246)gatgtcgcc>gac p.VA81del DSTYK_ENST00000367160.4_In_Frame_Del_p.VA81del|DSTYK_ENST00000367161.3_In_Frame_Del_p.VA81del NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 81 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 CCCGGTTTCGGCGACATCGCCTGCAg 0.670 9 12 --- --- --- --- ANKMY1 51281 broad.mit.edu 37 2 241468694 241468702 + In_Frame_Del DEL TCCTGTCCC TCCTGTCCC - TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr2:241468694_241468702delTCCTGTCCC ENST00000391987.1 - 5 804_812 c.438_446delGGGACAGGA c.(436-447)gagggacaggat>gat p.EGQ146del ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000272972.3_In_Frame_Del_p.EGQ146del|ANKMY1_ENST00000401804.1_In_Frame_Del_p.EGQ235del|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000406958.1_Intron NM_001282771.1 NP_001269700.1 Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 146 zinc ion binding p.Q148H(1) central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) GAAAAAGGGATCCTGTCCCTCCTGCAGTC 0.522 12 25 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 4 8 --- --- --- --- MAPKAPK3 7867 broad.mit.edu 37 3 50655026 50655032 + Frame_Shift_Del DEL GGGCCCT GGGCCCT - rs147044454 byFrequency TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:50655026_50655032delGGGCCCT ENST00000446044.1 + 4 626_632 c.30_36delGGGCCCT c.(28-36)gggggccctfs p.GGP10fs MAPKAPK3_ENST00000357955.2_Frame_Shift_Del_p.GGP10fs NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 10 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) AGGAGCAGGGGGGCCCTGTGCCCCCGC 0.710 14 9 --- --- --- --- SEMA5B 54437 broad.mit.edu 37 3 122662289 122662289 + Frame_Shift_Del DEL C C - TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:122662289delC ENST00000195173.4 - 4 725 c.422delG c.(421-423)ggafs p.G141fs SEMA5B_ENST00000357599.3_Frame_Shift_Del_p.G141fs|SEMA5B_ENST00000451055.2_Frame_Shift_Del_p.G195fs|SEMA5B_ENST00000465147.1_5'UTR Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 141 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) TTACCTGGCTCCCACGATGAG 0.612 2 4 --- --- --- --- CLCN2 1181 broad.mit.edu 37 3 184076836 184076836 + Frame_Shift_Del DEL C C - TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr3:184076836delC ENST00000265593.4 - 2 318 c.147delG c.(145-147)tggfs p.W49fs CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000434054.2_Frame_Shift_Del_p.W49fs|CLCN2_ENST00000344937.7_Frame_Shift_Del_p.W49fs|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Frame_Shift_Del_p.W49fs NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 49 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) GGGGACCTTTCCAGGGTTCAG 0.642 28 64 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134071974 134071975 + Frame_Shift_Ins INS - - A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr4:134071974_134071975insA ENST00000264360.5 + 1 1505_1506 c.679_680insA c.(679-681)cagfs p.Q227fs NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CCTGCCCCCCCAGCAGCAGCGC 0.668 22 23 --- --- --- --- TRIO 7204 broad.mit.edu 37 5 14293231 14293232 + Frame_Shift_Ins INS - - ATGA TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:14293231_14293232insATGA ENST00000344204.4 + 6 1188_1189 c.1164_1165insATGA c.(1165-1167)atgfs p.-390fs TRIO_ENST00000509967.2_Frame_Shift_Ins_p.-341fs|TRIO_ENST00000537187.1_Frame_Shift_Ins_p.-390fs NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) ATCACTTTGCCATGAACTGTAT 0.485 7 92 --- --- --- --- ANKRD55 79722 broad.mit.edu 37 5 55407589 55407589 + Frame_Shift_Del DEL G G - TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:55407589delG ENST00000341048.4 - 10 1137 c.986delC c.(985-987)cctfs p.P330fs ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000434982.2_Frame_Shift_Del_p.P42fs|ANKRD55_ENST00000504958.2_Frame_Shift_Del_p.P287fs NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 329 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) CTGGGAGGGAGGGGGTCGAGT 0.493 44 199 --- --- --- --- SEPT8 23176 broad.mit.edu 37 5 132096493 132096495 + Splice_Site DEL CTT CTT - TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr5:132096493_132096495delCTT ENST00000296873.7 - 9 1568_1570 c.1285_1287delAAG c.(1285-1287)aagdel p.K429del SEPT8_ENST00000378706.1_Splice_Site_p.K429del|SEPT8_ENST00000378721.4_Splice_Site_p.K427del|SEPT8_ENST00000448933.1_Splice_Site_p.K369del|SEPT8_ENST00000458488.2_Splice_Site_p.K429del|SEPT8_ENST00000378699.2_Splice_Site_p.K369del|SEPT8_ENST00000481030.1_5'UTR|SEPT8_ENST00000378701.1_Splice_Site_p.K427del|SEPT8_ENST00000378719.2_Splice_Site_p.K429del NM_001098812.1|NM_015146.1 NP_001092282.1|NP_055961.1 Q92599 SEPT8_HUMAN septin 8 429 cell cycle septin complex GTP binding|protein binding SEPT8/AFF4(2) kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTGCCACCTACTTCTTCTTGTCC 0.635 10 94 --- --- --- --- HIST1H4A 8359 broad.mit.edu 37 6 26022120 26022125 + In_Frame_Del DEL ACCTAT ACCTAT - TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:26022120_26022125delACCTAT ENST00000359907.3 + 1 214_219 c.214_219delACCTAT c.(214-219)acctatdel p.TY72del NM_003538.3 NP_003529.1 P62805 H4_HUMAN histone cluster 1, H4a 72 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(1)|skin(1) 2 TGACGCTGTCACCTATACGGAGCACG 0.592 39 150 --- --- --- --- ZFP57 346171 broad.mit.edu 37 6 29640709 29640709 + Frame_Shift_Del DEL A A - TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:29640709delA ENST00000376883.1 - 6 1530 c.1119delT c.(1117-1119)tttfs p.F373fs ZFP57_ENST00000488757.1_Frame_Shift_Del_p.F393fs|ZFP57_ENST00000376881.3_Frame_Shift_Del_p.F373fs Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 309 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding p.F373F(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 ATTTCTTGCTAAAAGTCAAAG 0.502 129 201 --- --- --- --- HLA-DQB1 3119 broad.mit.edu 37 6 32629870 32629870 + Frame_Shift_Del DEL G G - rs9273971 TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr6:32629870delG ENST00000399084.1 - 4 713 c.535delC c.(535-537)cttfs p.L179fs HLA-DQB1_ENST00000374943.4_Frame_Shift_Del_p.L179fs|HLA-DQB1_ENST00000399079.3_Frame_Shift_Del_p.L179fs|HLA-DQB1_ENST00000399082.3_Frame_Shift_Del_p.L89fs|HLA-DQB1_ENST00000434651.2_Frame_Shift_Del_p.L179fs|XXbac-BPG254F23.6_ENST00000443574.1_RNA P01920 DQB1_HUMAN major histocompatibility complex, class II, DQ beta 1 179 Beta-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity p.I180fs*12(1) breast(1)|large_intestine(1)|lung(1)|pancreas(1) 4 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTCCTAATAAGGGGGGTGGAC 0.562 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjögren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 13 41 --- --- --- --- GNA12 2768 broad.mit.edu 37 7 2770942 2770953 + In_Frame_Del DEL CGTCTCTTCCTG CGTCTCTTCCTG - TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr7:2770942_2770953delCGTCTCTTCCTG ENST00000275364.3 - 4 1170_1181 c.1008_1019delCAGGAAGAGACG c.(1006-1020)gacaggaagagacgg>gag p.336_340DRKRR>E GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000407904.3_In_Frame_Del_p.277_281DRKRR>E|GNA12_ENST00000407653.1_In_Frame_Del_p.260_264DRKRR>E|GNA12_ENST00000396960.3_In_Frame_Del_p.188_192DRKRR>E|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000544127.1_In_Frame_Del_p.243_247DRKRR>E NM_007353.2 NP_031379.2 Q03113 GNA12_HUMAN guanine nucleotide binding protein (G protein) alpha 12 336 G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.02e-13) GCTGCGGTTCCGTCTCTTCCTGTCGAAGCACT 0.594 14 24 --- --- --- --- FGFR1 2260 broad.mit.edu 37 8 38285914 38285916 + In_Frame_Del DEL TCA TCA - TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr8:38285914_38285916delTCA ENST00000341462.5 - 4 1346_1348 c.405_407delTGA c.(403-408)gatgac>gac p.135_136DD>D FGFR1_ENST00000335922.5_In_Frame_Del_p.124_125DD>D|FGFR1_ENST00000397103.1_In_Frame_Del_p.43_44DD>D|FGFR1_ENST00000397113.2_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000532791.1_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000397108.4_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000425967.3_In_Frame_Del_p.165_166DD>D|FGFR1_ENST00000326324.6_In_Frame_Del_p.43_44DD>D|FGFR1_ENST00000447712.2_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000397091.5_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000356207.5_In_Frame_Del_p.43_44DD>D P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 132 axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity p.D133N(3)|p.D44N(1) FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) TGAAGAGGAGtcatcatcatcat 0.498 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 9 292 --- --- --- --- C10orf90 118611 broad.mit.edu 37 10 128193397 128193398 + In_Frame_Ins INS - - GGC TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr10:128193397_128193398insGGC ENST00000284694.7 - 3 491_492 c.371_372insGCC c.(370-372)ccc>ccGCCc p.124_124P>PP C10orf90_ENST00000392694.1_In_Frame_Ins_p.77_77P>PP|C10orf90_ENST00000454341.1_In_Frame_Ins_p.124_124P>PP|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000544758.1_In_Frame_Ins_p.221_221P>PP|C10orf90_ENST00000356858.3_In_Frame_Ins_p.77_77P>PP NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 124 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) TCTCCTCTTTGGGCGGCAGCTC 0.649 OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 85 --- --- --- --- MMP27 64066 broad.mit.edu 37 11 102573753 102573753 + Frame_Shift_Del DEL G G - TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:102573753delG ENST00000260229.4 - 3 529 c.438delC c.(436-438)ttcfs p.F146fs NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 146 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) AAATCTTGGTGAATTTTAGTG 0.408 46 74 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 2 4 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23299147 23299147 + RNA DEL A A - TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr15:23299147delA ENST00000560464.1 - 0 4510 ACATTCAAAGAAAAAAAAAAA 0.313 3 5 --- --- --- --- ZNF598 90850 broad.mit.edu 37 16 2048239 2048263 + Frame_Shift_Del DEL GATGATCCTGGCGATGGCTTGCAGG GATGATCCTGGCGATGGCTTGCAGG - TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr16:2048239_2048263delGATGATCCTGGCGATGGCTTGCAGG ENST00000563630.1 - 12 2762_2786 c.2520_2544delCCTGCAAGCCATCGCCAGGATCATC c.(2518-2544)tccctgcaagccatcgccaggatcatcfs p.SLQAIARII840fs ZNF598_ENST00000431526.1_Frame_Shift_Del_p.SLQAIARII895fs|ZNF598_ENST00000562103.1_Frame_Shift_Del_p.SLQAIARII840fs|AC005606.15_ENST00000567515.1_lincRNA Q86UK7 ZN598_HUMAN zinc finger protein 598 895 intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 GGAGCTACGTGATGATCCTGGCGATGGCTTGCAGGGAGGGGAAGT 0.680 8 123 --- --- --- --- TOX3 27324 broad.mit.edu 37 16 52473239 52473239 + Frame_Shift_Del DEL G G - TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr16:52473239delG ENST00000219746.9 - 7 1913 c.1629delC c.(1627-1629)cccfs p.P543fs TOX3_ENST00000407228.3_Frame_Shift_Del_p.P538fs NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 543 Gln-rich. apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 TGGCAGGGATGGGGGATGTTA 0.577 15 12 --- --- --- --- FAM104A 84923 broad.mit.edu 37 17 71228421 71228431 + Frame_Shift_Del DEL CGGCGTCTGCT CGGCGTCTGCT - TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:71228421_71228431delCGGCGTCTGCT ENST00000405159.3 - 1 79_89 c.15_25delAGCAGACGCCG c.(13-27)ggagcagacgccggafs p.GADAG5fs FAM104A_ENST00000403627.3_Frame_Shift_Del_p.GADAG5fs|FAM104A_ENST00000583178.1_Intron|FAM104A_ENST00000581110.1_Frame_Shift_Del_p.GADAG5fs|C17orf80_ENST00000255557.4_5'UTR|FAM104A_ENST00000583024.1_Frame_Shift_Del_p.GADAG5fs NM_001098832.1 NP_001092302.1 Q969W3 F104A_HUMAN family with sequence similarity 104, member A 5 endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 LUSC - Lung squamous cell carcinoma(166;0.197) CCACTACTTCCGGCGTCTGCTCCGCGCCCCC 0.730 9 46 --- --- --- --- BAHCC1 57597 broad.mit.edu 37 17 79428907 79428909 + In_Frame_Del DEL CAG CAG - TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr17:79428907_79428909delCAG ENST00000307745.7 + 30 7218_7220 c.7218_7220delCAG c.(7216-7221)cccagc>ccc p.S2410del RP11-1055B8.8_ENST00000572590.1_RNA GCTCAGGCCCCAGCAGCAGCAGC 0.690 2 4 --- --- --- --- CCDC102B 79839 broad.mit.edu 37 18 66721355 66721356 + Frame_Shift_Ins INS - - TTTTT TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr18:66721355_66721356insTTTTT ENST00000360242.5 + 8 1640_1641 c.1523_1524insTTTTT c.(1522-1527)aggcacfs p.RH508fs CCDC102B_ENST00000319445.6_Frame_Shift_Ins_p.RH508fs NM_024781.2 NP_079057 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 508 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) ACTGAACTCAGGCACTTGCAAA 0.356 10 76 --- --- --- --- NACC1 112939 broad.mit.edu 37 19 13246210 13246229 + Frame_Shift_Del DEL CAGCGCCGTGGTGGAGCTGC CAGCGCCGTGGTGGAGCTGC - rs149110290 byFrequency TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:13246210_13246229delCAGCGCCGTGGTGGAGCTGC ENST00000292431.4 + 2 315_334 c.189_208delCAGCGCCGTGGTGGAGCTGC c.(187-210)cgcagcgccgtggtggagctgccgfs p.SAVVELP64fs NM_052876.3 NP_443108.1 Q96RE7 NACC1_HUMAN nucleus accumbens associated 1, BEN and BTB (POZ) domain containing 64 BTB. negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent cytoplasm|nuclear body endometrium(3)|large_intestine(2)|lung(3)|skin(1) 9 ACAACAGCCGCAGCGCCGTGGTGGAGCTGCCGGCGGCTGT 0.636 32 22 --- --- --- --- EPS15L1 58513 broad.mit.edu 37 19 16514635 16514648 + Frame_Shift_Del DEL TCCTCCTGCTGCAA TCCTCCTGCTGCAA - TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:16514635_16514648delTCCTCCTGCTGCAA ENST00000602009.1 - 9 1955_1968 c.1060_1073delTTGCAGCAGGAGGA c.(1060-1074)ttgcagcaggaggaafs p.LQQEE354fs EPS15L1_ENST00000455140.2_Frame_Shift_Del_p.LQQEE508fs|EPS15L1_ENST00000248070.6_Frame_Shift_Del_p.LQQEE508fs|EPS15L1_ENST00000597937.1_Frame_Shift_Del_p.LQQEE508fs|EPS15L1_ENST00000594975.1_Frame_Shift_Del_p.LQQEE508fs|EPS15L1_ENST00000535753.2_Frame_Shift_Del_p.LQQEE508fs Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 508 EH 3. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding p.Q510Q(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 CAGCTGGGTTTCCTCCTGCTGCAATCGGTTCAGC 0.500 8 76 --- --- --- --- CYP2B7P 1556 broad.mit.edu 37 19 41450314 41450336 + RNA DEL ACACAGAGGCAGTCATCCGTGAG ACACAGAGGCAGTCATCCGTGAG - TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr19:41450314_41450336delACACAGAGGCAGTCATCCGTGAG ENST00000599198.1 + 0 1097_1119 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 AAAATGCCATACACAGAGGCAGTCATCCGTGAGATTCAGAGAT 0.529 7 15 --- --- --- --- ASCC2 84164 broad.mit.edu 37 22 30200632 30200633 + Frame_Shift_Ins INS - - TTCCTCCGAG TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chr22:30200632_30200633insTTCCTCCGAG ENST00000397771.2 - 14 1524_1525 c.1347_1348insCTCGGAGGAA c.(1345-1350)gaagagfs p.E450fs ASCC2_ENST00000542393.1_Frame_Shift_Ins_p.E374fs|ASCC2_ENST00000307790.3_Frame_Shift_Ins_p.E450fs Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 2 450 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) CATACCTCCTCTTCCTCCGAGT 0.559 8 267 --- --- --- --- ASMTL 8623 broad.mit.edu 37 X 1546829 1546830 + Frame_Shift_Ins INS - - A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chrX:1546829_1546830insA ENST00000534940.1 - 7 745_746 c.520_521insT c.(520-522)gcgfs p.A174fs ASMTL_ENST00000381333.4_Frame_Shift_Ins_p.A216fs|ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000416733.2_Frame_Shift_Ins_p.A156fs|ASMTL_ENST00000381317.3_Frame_Shift_Ins_p.A232fs NM_001173473.1 NP_001166944.1 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 232 MAF-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GAAGGTGTCCGCGGCCGGGATG 0.678 11 30 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44969390 44969400 + Frame_Shift_Del DEL TGCCAAGATTG TGCCAAGATTG - TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6d1c49e9-4375-432a-9f2c-cfee91783fdc 368dbeb0-d638-4045-8935-8fa9e7ca852c g.chrX:44969390_44969400delTGCCAAGATTG ENST00000377967.4 + 28 4113_4123 c.4072_4082delTGCCAAGATTG c.(4072-4083)tgccaagattgtfs p.CQDC1358fs KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.CQDC1313fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.CQDC1279fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.CQDC1365fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1358 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 CATAGTACATTGCCAAGATTGTGCACGAAAA 0.365 """D, N, F, S""" """renal, oesophageal SCC, MM""" 31 17 --- --- --- ---