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 TTN 7273 broad.mit.edu 37 2 179444088 179444088 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:179444088C>T ENST00000589042.1 - 320 67893 c.67669G>A c.(67669-67671)Gat>Aat p.D22557N TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D20916N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D13492N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13684N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13617N|TTN_ENST00000342992.6_Missense_Mutation_p.D19989N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20916 Fibronectin type-III 63. 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) TAGCACAAATCAGGTAGACCC 0.413000 5 57 0 0 1 0 0 PARP8 79668 broad.mit.edu 37 5 50091226 50091226 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr5:50091226C>G ENST00000281631.5 + 12 1561 c.1403C>G c.(1402-1404)tCt>tGt p.S468C PARP8_ENST00000503750.2_Missense_Mutation_p.S468C|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.S447C|PARP8_ENST00000514342.2_Missense_Mutation_p.S221C|PARP8_ENST00000505697.2_Missense_Mutation_p.S468C|PARP8_ENST00000514067.2_Missense_Mutation_p.S468C NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 468 Poly-Ser. intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) CTAACACCATCTTCATCTTCA 0.408000 6 70 0 0 1 0 0 TLK1 9874 broad.mit.edu 37 2 171902835 171902835 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:171902835C>T ENST00000442919.2 - 11 1489 c.874G>A c.(874-876)Gaa>Aaa p.E292K TLK1_ENST00000360843.3_Missense_Mutation_p.E361K|TLK1_ENST00000521943.1_Missense_Mutation_p.E292K|TLK1_ENST00000434911.2_Missense_Mutation_p.E244K|TLK1_ENST00000431350.2_Missense_Mutation_p.E340K NM_012290.4 NP_036422.3 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 340 cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 CTTTGCCTTTCAATATCTTCC 0.378000 7 115 0 0 1 0 0 FRMD5 84978 broad.mit.edu 37 15 44181013 44181013 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr15:44181013C>G ENST00000417257.1 - 9 962 c.786G>C c.(784-786)caG>caC p.Q262H FRMD5_ENST00000402883.1_Missense_Mutation_p.Q262H|FRMD5_ENST00000484674.1_Intron NM_032892.3 NP_116281.2 Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 262 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) TCACCTCTTTCTGACTTACGT 0.502000 17 105 0 0 1 0 0 RFX7 64864 broad.mit.edu 37 15 56387730 56387730 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr15:56387730C>T ENST00000423270.1 - 9 2195 c.2196G>A c.(2194-2196)ttG>ttA p.L732L RFX7_ENST00000317318.6_Silent_p.L732L|RFX7_ENST00000559447.2_Silent_p.L635L|RFX7_ENST00000422057.1_Silent_p.L635L NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 635 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 CAGAGGAATTCAAGGGTTGAT 0.413000 4 57 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19501762 19501762 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr16:19501762C>T ENST00000396229.2 + 18 3368 c.2619C>T c.(2617-2619)ctC>ctT p.L873L TMC5_ENST00000564959.1_Silent_p.L556L|TMC5_ENST00000561503.1_Silent_p.L514L|TMC5_ENST00000542583.2_Silent_p.L873L|TMC5_ENST00000541464.1_Silent_p.L821L|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000219821.5_Silent_p.L627L NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 873 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GTCTGCCTCTCTTCATTCACT 0.483000 4 195 0 0 1 0 0 KIT 3815 broad.mit.edu 37 4 55603419 55603419 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:55603419G>A ENST00000288135.5 + 20 2872 c.2775G>A c.(2773-2775)gaG>gaA p.E925E NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 925 Protein kinase. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) AGCTAATTGAGAAGCAGATTT 0.468000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 4 105 0 0 1 0 0 GAB4 128954 broad.mit.edu 37 22 17472947 17472947 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr22:17472947G>A ENST00000400588.1 - 2 401 c.294C>T c.(292-294)ctC>ctT p.L98L GAB4_ENST00000523144.1_5'UTR NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 98 PH. breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) GCTGCTCACAGAGGTTCAGGT 0.488000 13 343 0 0 1 0 0 COMTD1 118881 broad.mit.edu 37 10 76994481 76994481 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr10:76994481C>T ENST00000372538.3 - 6 605 c.523G>A c.(523-525)Gag>Aag p.E175K COMTD1_ENST00000460899.1_5'UTR NM_144589.2 NP_653190.2 Q86VU5 CMTD1_HUMAN catechol-O-methyltransferase domain containing 1 175 integral to membrane O-methyltransferase activity central_nervous_system(1)|large_intestine(1)|lung(1) 3 all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183) GTGCCGGCCTCGCCCGCCGCC 0.746000 5 12 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10257139 10257139 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:10257139C>G ENST00000340748.4 - 27 2969 c.2734G>C c.(2734-2736)Gag>Cag p.E912Q DNMT1_ENST00000359526.4_Missense_Mutation_p.E928Q|DNMT1_ENST00000540357.1_Missense_Mutation_p.E912Q P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 912 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TCGAGCTGCTCCAGGACCCTG 0.562000 5 101 0 0 1 0 0 PIP4K2C 79837 broad.mit.edu 37 12 57985144 57985144 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:57985144C>G ENST00000354947.5 + 1 88 c.72C>G c.(70-72)ttC>ttG p.F24L PIP4K2C_ENST00000540759.2_Missense_Mutation_p.F24L|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.F24L|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.F24L Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, gamma 24 cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Melanoma(17;0.122) GTTTCGGCTTCGCCTCCAAGA 0.652000 5 154 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64602888 64602888 + Silent SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:64602888C>G ENST00000342711.5 - 16 1883 c.1884G>C c.(1882-1884)ccG>ccC p.P628P NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 628 P -> R (in Ref. 1; AAT67172). actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 CCTTACCACTCGGCCTGGGGA 0.682000 19 225 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22837748 22837748 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:22837748C>T ENST00000404138.1 + 11 2421 c.1910C>T c.(1909-1911)tCa>tTa p.S637L ZBTB40_ENST00000374651.4_Missense_Mutation_p.S525L|ZBTB40_ENST00000375647.4_Missense_Mutation_p.S637L NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 637 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) ATGGAAAAATCAGTCCCGGCC 0.502000 5 111 0 0 1 0 0 GBP5 115362 broad.mit.edu 37 1 89730405 89730405 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:89730405G>C ENST00000343435.5 - 8 1649 c.1113C>G c.(1111-1113)ttC>ttG p.F371L GBP5_ENST00000370459.3_Missense_Mutation_p.F371L|GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 371 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) CTACATCCTTGAAAGAGTTTT 0.453000 4 88 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21104247 21104247 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr22:21104247C>T ENST00000255882.6 - 28 3275 c.3189G>A c.(3187-3189)atG>atA p.M1063I PI4KA_ENST00000572273.1_Missense_Mutation_p.M1005I NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1005 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CCTGGAGGATCATCCCACAGC 0.527000 3 30 0 0 1 0 0 GABRB3 2562 broad.mit.edu 37 15 27184489 27184489 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr15:27184489G>A ENST00000541819.2 - 1 197 c.95C>T c.(94-96)tCa>tTa p.S32L GABRA5_ENST00000335625.5_Intron|GABRA5_ENST00000355395.5_Intron|GABRA5_ENST00000400081.3_Intron P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 0 G -> R (in ECA5; the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CATCGCCAATGAAATGCCCCC 0.577000 7 93 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72215774 72215774 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:72215774C>T ENST00000340595.3 + 2 599 c.403C>T c.(403-405)Ctc>Ttc p.L135F SLC4A4_ENST00000264485.5_Missense_Mutation_p.L179F|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.L179F|SLC4A4_ENST00000512686.1_Missense_Mutation_p.L135F|SLC4A4_ENST00000351898.6_Missense_Mutation_p.L179F NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 179 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) GGCTTCTTCTCTCCCACAGTT 0.453000 21 155 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108235920 108235920 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:108235920G>A ENST00000278616.4 + 62 9347 c.8962G>A c.(8962-8964)Gac>Aac p.D2988N C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000452508.2_Missense_Mutation_p.D2988N NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2988 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) GAATGCAGATGACCAAGAATG 0.413000 """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) 8 113 0 0 1 0 0 C18orf54 162681 broad.mit.edu 37 18 51887043 51887043 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr18:51887043C>T ENST00000300091.5 + 2 433 c.101C>T c.(100-102)tCt>tTt p.S34F C18orf54_ENST00000578138.1_Intron|C18orf54_ENST00000382911.4_Missense_Mutation_p.S34F NM_173529.4 NP_775800.3 Q8IYD9 CR054_HUMAN chromosome 18 open reading frame 54 34 extracellular region breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186) TCCTCTAATTCTGATGGCTCG 0.408000 10 139 0 0 1 0 0 MARK2 2011 broad.mit.edu 37 11 63671514 63671514 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:63671514C>T ENST00000402010.2 + 15 2150 c.1571C>T c.(1570-1572)gCg>gTg p.A524V MARK2_ENST00000425897.2_Intron|MARK2_ENST00000377809.4_Missense_Mutation_p.A524V|MARK2_ENST00000350490.7_Intron|MARK2_ENST00000508192.1_Intron|MARK2_ENST00000377810.3_Intron|MARK2_ENST00000361128.5_Intron|MARK2_ENST00000513765.2_Missense_Mutation_p.A491V|MARK2_ENST00000509502.2_Missense_Mutation_p.A490V|MARK2_ENST00000408948.3_Intron|MARK2_ENST00000502399.3_Missense_Mutation_p.A523V|MARK2_ENST00000315032.8_Missense_Mutation_p.A524V|MARK2_ENST00000413835.2_Intron NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 524 cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 GCAGTCTCTGCGGCCCGGCCC 0.662000 3 14 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92380913 92380913 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr13:92380913G>A ENST00000377067.3 + 4 1520 c.1148G>A c.(1147-1149)aGa>aAa p.R383K GPC5_ENST00000483422.1_3'UTR NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 383 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CTTGCCAACAGAAGAAAGTAA 0.363000 7 84 0 0 1 0 0 ATP8A2 51761 broad.mit.edu 37 13 26127956 26127956 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr13:26127956C>T ENST00000381655.2 + 12 1225 c.1083C>T c.(1081-1083)taC>taT p.Y361Y ATP8A2_ENST00000255283.8_Silent_p.Y321Y NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 321 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) ATTTTGGATACAACCTACTGA 0.383000 9 168 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78363062 78363062 + Silent SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:78363062C>G ENST00000582970.1 + 65 15233 c.15090C>G c.(15088-15090)gtC>gtG p.V5030V RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000508628.2_Silent_p.V5079V|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.V3103V NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TCGTAGAAGTCACTCTGGGGT 0.522000 6 99 0 0 1 0 0 OTUD7B 56957 broad.mit.edu 37 1 149916876 149916876 + Nonsense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:149916876G>C ENST00000369135.3 - 12 1706 c.1412C>G c.(1411-1413)tCa>tGa p.S471* NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B 471 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) GCTGCCAACTGACTCCTTGTC 0.602000 6 103 0 0 1 0 0 C14orf39 317761 broad.mit.edu 37 14 60935201 60935201 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr14:60935201C>G ENST00000321731.3 - 9 888 c.729G>C c.(727-729)aaG>aaC p.K243N NM_174978.2 NP_777638.2 Q08AQ4 Q08AQ4_HUMAN chromosome 14 open reading frame 39 243 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) TATTTTTGTTCTTTTCTTCCA 0.289000 4 159 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25472104 25472104 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr20:25472104C>T ENST00000278886.6 - 11 1441 c.1368G>A c.(1366-1368)gcG>gcA p.A456A NINL_ENST00000422516.1_Silent_p.A456A NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 456 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 GCTCTCGCTCCGCCTCCACCT 0.652000 6 61 0 0 1 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88885506 88885506 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:88885506G>A ENST00000303236.3 - 9 1804 c.1503C>T c.(1501-1503)ctC>ctT p.L501L EIF2AK3_ENST00000419748.1_Silent_p.L350L NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 501 activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 GTGGGTTGTCGAGGAATCTGA 0.353000 13 149 0 0 1 0 0 ZNF382 84911 broad.mit.edu 37 19 37117312 37117312 + Silent SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:37117312C>G ENST00000435416.1 + 3 2005 c.510C>G c.(508-510)ctC>ctG p.L170L ZNF382_ENST00000292928.2_Silent_p.L171L|ZNF382_ENST00000439428.1_Silent_p.L170L|ZNF382_ENST00000423582.1_Silent_p.L122L Q96SR6 ZN382_HUMAN zinc finger protein 382 171 Represses transcription (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AGAAATCACTCCTCAATACCA 0.373000 12 200 0 0 1 0 0 NMD3 51068 broad.mit.edu 37 3 160960409 160960409 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:160960409C>G ENST00000460469.1 + 10 1440 c.985C>G c.(985-987)Cgt>Ggt p.R329G NMD3_ENST00000351193.2_Missense_Mutation_p.R329G|NMD3_ENST00000472947.1_Missense_Mutation_p.R329G Q96D46 NMD3_HUMAN NMD3 ribosome export adaptor 329 protein transport cytoplasm|nucleolus|nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) AGATATAAAACGTGCTGCAGG 0.408000 14 146 0 0 1 0 0 ZNF217 7764 broad.mit.edu 37 20 52199008 52199008 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr20:52199008C>T ENST00000371471.2 - 2 783 c.358G>A c.(358-360)Gaa>Aaa p.E120K ZNF217_ENST00000302342.3_Missense_Mutation_p.E120K O75362 ZN217_HUMAN zinc finger protein 217 120 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) CAATTCTTTTCCTTGGGAGGT 0.453000 9 233 0 0 1 0 0 CCDC150 284992 broad.mit.edu 37 2 197534573 197534573 + Nonsense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:197534573C>G ENST00000472405.2 + 5 563 c.353C>G c.(352-354)tCa>tGa p.S118* CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000389175.4_Silent_p.L303L Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 221 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GAGATGACCTCATTTCCAAGT 0.333000 8 129 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166210926 166210926 + Silent SNP A A G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:166210926A>G ENST00000375437.2 + 17 3434 c.3144A>G c.(3142-3144)aaA>aaG p.K1048K SCN2A_ENST00000375427.2_Silent_p.K1048K|SCN2A_ENST00000357398.3_Silent_p.K1048K|SCN2A_ENST00000283256.6_Silent_p.K1048K NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1048 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TAAATAATAAAAAAGACAGCT 0.343000 7 77 0 0 1 0 0 MASTL 84930 broad.mit.edu 37 10 27459503 27459503 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr10:27459503G>A ENST00000375946.4 + 8 2218 c.1615G>A c.(1615-1617)Gac>Aac p.D539N MASTL_ENST00000375940.4_Missense_Mutation_p.D539N|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.D539N NM_001172303.1|NM_032844.3 NP_001165774.1|NP_116233.2 Q96GX5 GWL_HUMAN microtubule associated serine/threonine kinase-like 539 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACTCGATGAAGACTGTGAAAA 0.313000 6 107 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 4 25 0.014758 0.0148404 1 1 0 RIMS2 9699 broad.mit.edu 37 8 105260960 105260960 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr8:105260960G>A ENST00000507740.1 + 19 3186 c.2950G>A c.(2950-2952)Gat>Aat p.D984N RIMS2_ENST00000406091.3_Missense_Mutation_p.D1170N|RIMS2_ENST00000436393.2_Missense_Mutation_p.D1188N|RIMS2_ENST00000262231.10_Missense_Mutation_p.D1009N|RIMS2_ENST00000339750.2_Missense_Mutation_p.D106N NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1232 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CTTGGCCTCTGATAGCCAGTT 0.463000 HNSCC(12;0.0054) 6 123 0 0 1 0 0 ZBTB9 221504 broad.mit.edu 37 6 33424102 33424102 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:33424102C>T ENST00000395064.2 + 2 1493 c.1225C>T c.(1225-1227)Cgg>Tgg p.R409W NM_152735.3 NP_689948.1 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2) 11 CTTCAGCCTTCGGCCTTTTGG 0.567000 7 41 0 0 1 0 0 ZNF429 353088 broad.mit.edu 37 19 21719223 21719223 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:21719223G>A ENST00000358491.4 + 4 576 c.368G>A c.(367-369)tGt>tAt p.C123Y ZNF429_ENST00000594022.1_3'UTR|ZNF429_ENST00000597078.1_Intron NM_001001415.2 NP_001001415.2 Q86V71 ZN429_HUMAN zinc finger protein 429 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 GTAGGTGATTGTAAGCTATAC 0.328000 7 92 0 0 1 0 0 MTBP 27085 broad.mit.edu 37 8 121500404 121500404 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr8:121500404G>A ENST00000305949.1 + 12 1216 c.1171G>A c.(1171-1173)Gat>Aat p.D391N NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 391 cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TTTAGTTCCAGATGTTGAAGT 0.328000 9 77 0 0 1 0 0 MLH3 27030 broad.mit.edu 37 14 75513215 75513215 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr14:75513215G>A ENST00000355774.2 - 2 3359 c.3144C>T c.(3142-3144)ttC>ttT p.F1048F MLH3_ENST00000556740.1_Silent_p.F1048F|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000556257.1_Silent_p.F1048F|MLH3_ENST00000544985.1_Silent_p.F43F|MLH3_ENST00000238662.7_Silent_p.F1048F|MLH3_ENST00000380968.2_5'UTR NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 1048 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) GGGCTACATCGAAATGCCGCT 0.433000 Mismatch excision repair (MMR) 11 127 0 0 1 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47571830 47571830 + Silent SNP G G A rs151236717 byFrequency TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:47571830G>A ENST00000334194.3 + 9 1101 c.1098G>A c.(1096-1098)acG>acA p.T366T CYP4A22-AS1_ENST00000444042.2_lincRNA NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 366 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding p.T366T(1) cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 CTTACACCACGATGTGCATCA 0.522000 6 150 0 0 1 0 0 HOXB3 3213 broad.mit.edu 37 17 46629701 46629701 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:46629701C>T ENST00000470495.1 - 1 1583 c.136G>A c.(136-138)Gac>Aac p.D46N HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.D46N|HOXB3_ENST00000472863.1_5'UTR|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000311626.4_Missense_Mutation_p.D46N|HOXB3_ENST00000489475.1_5'UTR|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000476342.1_Missense_Mutation_p.D46N P14651 HXB3_HUMAN homeobox B3 46 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 CGCTGGTAGTCGCCCTCCAGG 0.647000 4 51 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100551290 100551290 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:100551290C>T ENST00000319509.7 + 1 41 c.41C>T c.(40-42)tCa>tTa p.S14L mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 GCCATCACCTCACATTTTACT 0.517000 12 122 0 0 1 0 0 RPAP3 79657 broad.mit.edu 37 12 48075550 48075550 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:48075550G>A ENST00000005386.3 - 10 1158 c.1043C>T c.(1042-1044)tCa>tTa p.S348L RPAP3_ENST00000380650.4_Missense_Mutation_p.S348L|RPAP3_ENST00000432584.3_Missense_Mutation_p.S189L NM_024604.2 NP_078880.2 Q9H6T3 RPAP3_HUMAN RNA polymerase II associated protein 3 348 binding endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Lung SC(27;0.192) TTTAGAATATGAGCCATCTAA 0.363000 4 91 0 0 1 0 0 STK32A 202374 broad.mit.edu 37 5 146730662 146730662 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr5:146730662G>A ENST00000397936.3 + 7 840 c.507G>A c.(505-507)gcG>gcA p.A169A STK32A_ENST00000398523.3_Silent_p.A169A NM_001112724.1 NP_001106195.1 Q8WU08 ST32A_HUMAN serine/threonine kinase 32A 169 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACATTGCTGCGATGCTGCCCA 0.463000 5 89 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42607723 42607723 + Missense_Mutation SNP G G C rs144735319 TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr22:42607723G>C ENST00000359486.3 - 1 3725 c.3589C>G c.(3589-3591)Cca>Gca p.P1197A TCF20_ENST00000335626.4_Missense_Mutation_p.P1197A NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CTTTTGGCTGGAGAAGTTTGC 0.498000 5 84 0 0 1 0 0 ARHGAP18 93663 broad.mit.edu 37 6 129929118 129929118 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:129929118C>T ENST00000368149.2 - 9 1290 c.1202G>A c.(1201-1203)aGc>aAc p.S401N NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 401 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding p.S401N(1) NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) CTTCAGCAGGCTGGCGGCATC 0.458000 6 94 0 0 1 0 0 PCDHB15 56121 broad.mit.edu 37 5 140625549 140625549 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 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 7 157 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123267827 123267827 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:123267827C>T ENST00000264501.4 + 75 13156 c.12783C>T c.(12781-12783)ctC>ctT p.L4261L KIAA1109_ENST00000388738.3_Silent_p.L4261L Q2LD37 K1109_HUMAN KIAA1109 4261 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TGCGCCGACTCAGTGAAATTC 0.353000 6 188 0 0 1 0 0 GRIN2C 2905 broad.mit.edu 37 17 72842377 72842377 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:72842377G>A ENST00000293190.5 - 11 2324 c.2178C>T c.(2176-2178)ttC>ttT p.F726F GRIN2C_ENST00000347612.4_Silent_p.F726F NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 726 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) CATCATAGATGAAGGCATCCA 0.582000 5 79 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17057938 17057938 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:17057938C>G ENST00000443236.1 - 21 2780 c.2749G>C c.(2749-2751)Gag>Cag p.E917Q NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 870 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CAGATGGGCTCAGCCTCCCCG 0.597000 9 235 0 0 1 0 0 ZBTB6 10773 broad.mit.edu 37 9 125673418 125673418 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr9:125673418G>A ENST00000373659.3 - 2 1022 c.934C>T c.(934-936)Cat>Tat p.H312Y NM_006626.5 NP_006617.1 Q15916 ZBTB6_HUMAN zinc finger and BTB domain containing 6 312 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 11 TTTTCAACATGAAGAAAGCCT 0.418000 9 134 0 0 1 0 0 MYO1D 4642 broad.mit.edu 37 17 31082662 31082662 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:31082662G>C ENST00000318217.5 - 11 1619 c.1315C>G c.(1315-1317)Cag>Gag p.Q439E MYO1D_ENST00000579584.1_Missense_Mutation_p.Q439E|MYO1D_ENST00000394649.4_Missense_Mutation_p.Q351E|MYO1D_ENST00000584232.1_5'UTR NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 439 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) ACAATGATCTGATTGTTGAAG 0.453000 4 45 0 0 1 0 0 DFFA 1676 broad.mit.edu 37 1 10523546 10523546 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:10523546G>A ENST00000377038.3 - 4 640 c.573C>T c.(571-573)ctC>ctT p.L191L DFFA_ENST00000377036.2_Silent_p.L191L NM_004401.2 NP_004392.1 O00273 DFFA_HUMAN DNA fragmentation factor, 45kDa, alpha polypeptide 191 DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis cytosol|mitochondrion|nucleoplasm|plasma membrane deoxyribonuclease activity|identical protein binding large_intestine(3)|lung(2) 5 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) ACAGCTGCAGGAGCTGCTTGG 0.562000 7 162 0 0 1 0 0 ZNF468 90333 broad.mit.edu 37 19 53344689 53344689 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:53344689G>A ENST00000595646.1 - 4 978 c.858C>T c.(856-858)ctC>ctT p.L286L ZNF468_ENST00000396409.4_Silent_p.L233L|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Silent_p.L233L|ZNF28_ENST00000594602.1_Intron Q5VIY5 ZN468_HUMAN zinc finger protein 468 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) TGTGAATGAAGAGGGATGAAT 0.418000 14 202 0 0 1 0 0 DAXX 1616 broad.mit.edu 37 6 33286925 33286925 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:33286925G>A ENST00000374542.5 - 7 2216 c.2012C>T c.(2011-2013)tCc>tTc p.S671F DAXX_ENST00000414083.2_Missense_Mutation_p.S596F|DAXX_ENST00000266000.6_Missense_Mutation_p.S671F NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 671 Interaction with SPOP. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 AGCCAAGGGGGAAGGTGGGCT 0.542000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 7 108 0 0 1 0 0 CENPV 201161 broad.mit.edu 37 17 16247996 16247996 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:16247996G>A ENST00000476243.1 - 4 1276 c.147C>T c.(145-147)ttC>ttT p.F49F PIGL_ENST00000581006.1_Intron|CENPV_ENST00000299736.4_Silent_p.F203F Q7Z7K6 CENPV_HUMAN centromere protein V 206 cell division|centromeric heterochromatin formation|mitosis|positive regulation of cytokinesis|regulation of chromosome organization condensed chromosome kinetochore|cytoplasm|nucleus|spindle midzone carbon-sulfur lyase activity endometrium(1)|large_intestine(2) 3 TGTGAGTATTGAACGTGTAAG 0.388000 5 144 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 5 66 0 0 1 0 0 ZNF366 167465 broad.mit.edu 37 5 71756606 71756606 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr5:71756606C>G ENST00000318442.5 - 2 1208 c.718G>C c.(718-720)Gac>Cac p.D240H NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) TAGTAGCTGTCATCGATCTGC 0.632000 7 185 0 0 1 0 0 DHX16 8449 broad.mit.edu 37 6 30640519 30640519 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:30640519C>T ENST00000376442.3 - 1 295 c.100G>A c.(100-102)Gca>Aca p.A34T NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 34 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 CAGCGCTGTGCGGTACCGATC 0.662000 4 63 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43467785 43467785 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr18:43467785G>A ENST00000282041.5 - 29 5074 c.5040C>T c.(5038-5040)gtC>gtT p.V1680V EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1680 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 TCTCATCGCTGACGTAATCCA 0.458000 11 149 0 0 1 0 0 BAI2 576 broad.mit.edu 37 1 32210257 32210257 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:32210257G>A ENST00000373658.3 - 5 1255 c.914C>T c.(913-915)gCg>gTg p.A305V BAI2_ENST00000527361.1_Missense_Mutation_p.A305V|BAI2_ENST00000440175.2_Missense_Mutation_p.A2V|BAI2_ENST00000398538.1_Missense_Mutation_p.A293V|BAI2_ENST00000398542.1_Missense_Mutation_p.A293V|BAI2_ENST00000398547.1_Missense_Mutation_p.A293V|BAI2_ENST00000398556.3_Missense_Mutation_p.A308V|BAI2_ENST00000257070.4_Missense_Mutation_p.A305V|BAI2_ENST00000373655.2_Missense_Mutation_p.A305V NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 305 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) ACCTGTCTGCGCCATGTATAG 0.632000 4 26 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113697717 113697717 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:113697717C>T ENST00000295878.3 - 15 2594 c.2448G>A c.(2446-2448)caG>caA p.Q816Q KIAA1407_ENST00000545063.1_3'UTR NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 816 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 GTAGCCAGCTCTGGATGACTC 0.428000 14 202 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63174643 63174643 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr14:63174643C>T ENST00000322893.7 - 11 2818 c.2550G>A c.(2548-2550)gaG>gaA p.E850E KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 850 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TCACACTGTTCTCTGAATCAC 0.453000 5 217 0 0 1 0 0 SDPR 8436 broad.mit.edu 37 2 192701254 192701254 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:192701254C>T ENST00000304141.4 - 2 1002 c.673G>A c.(673-675)Gaa>Aaa p.E225K NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 225 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) GCCCTACTTTCTTCCACCTTT 0.488000 10 201 0 0 1 0 0 ADM 133 broad.mit.edu 37 11 10327878 10327878 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:10327878G>A ENST00000530439.1 + 2 808 c.44G>A c.(43-45)aGc>aAc p.S15N ADM_ENST00000526492.1_Silent_p.Q93Q|ADM_ENST00000528655.1_Splice_Site|ADM_ENST00000534464.1_Splice_Site|ADM_ENST00000525063.1_Splice_Site|ADM_ENST00000278175.5_Splice_Site NM_001124.1 NP_001115.1 P35318 ADML_HUMAN adrenomedullin 83 blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding cytoplasm|extracellular space|soluble fraction hormone activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1) 6 all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257) CCCGCCCGCAGCAGTCCGGAT 0.647000 7 35 0 0 1 0 0 TGM3 7053 broad.mit.edu 37 20 2321172 2321172 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr20:2321172C>T ENST00000381458.5 + 13 2090 c.2027C>T c.(2026-2028)tCc>tTc p.S676F NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 676 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) GCCGACTTCTCCTGCAACAAG 0.602000 6 93 0 0 1 0 0 PRRG1 5638 broad.mit.edu 37 X 37285197 37285197 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chrX:37285197G>A ENST00000542554.1 + 4 387 c.115G>A c.(115-117)Gaa>Aaa p.E39K PRRG1_ENST00000463135.1_Missense_Mutation_p.E39K|PRRG1_ENST00000543642.1_Missense_Mutation_p.E39K|PRRG1_ENST00000449135.2_Missense_Mutation_p.E39K|TM4SF2_ENST00000465127.1_Missense_Mutation_p.E39K|PRRG1_ENST00000378628.4_Missense_Mutation_p.E39K|PRRG1_ENST00000491253.1_Intron NM_001173489.1 NP_001166960.1 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 39 Gla. extracellular region|integral to plasma membrane calcium ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 TGAGTGCAAAGAAGAATTCTG 0.368000 7 40 0 0 1 0 0 UBA2 10054 broad.mit.edu 37 19 34929559 34929559 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:34929559G>A ENST00000439527.2 + 6 679 c.181G>A c.(181-183)Gag>Aag p.E61K UBA2_ENST00000246548.4_Missense_Mutation_p.E157K Q9UBT2 SAE2_HUMAN ubiquitin-like modifier activating enzyme 2 157 protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 20 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) GGGTGTGACCGAGTGTTATGA 0.398000 15 206 0 0 1 0 0 GAPDH 2597 broad.mit.edu 37 12 6646520 6646520 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:6646520C>T ENST00000229239.5 + 7 1155 c.489C>T c.(487-489)gtC>gtT p.V163V GAPDH_ENST00000396858.1_Silent_p.V121V|GAPDH_ENST00000396861.1_Silent_p.V163V|GAPDH_ENST00000396856.1_Silent_p.V88V|GAPDH_ENST00000396859.1_Silent_p.V163V NM_002046.4 NP_002037.2 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 163 gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4) 7 NADH(DB00157) TGGCCAAGGTCATCCATGACA 0.577000 5 56 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74360248 74360248 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr9:74360248C>G ENST00000377044.4 - 4 1259 c.720G>C c.(718-720)tgG>tgC p.W240C TMEM2_ENST00000377066.5_Missense_Mutation_p.W240C NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 240 G8. integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) CCAACAACGTCCACGATGCCT 0.507000 7 151 0 0 1 0 0 CDKL5 6792 broad.mit.edu 37 X 18626935 18626935 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chrX:18626935G>A ENST00000379989.3 + 14 2234 c.1949G>A c.(1948-1950)gGa>gAa p.G650E CDKL5_ENST00000379996.3_Missense_Mutation_p.G650E|CDKL5_ENST00000463994.1_3'UTR NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 650 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) TTCCAGCCTGGAGAACAGCTC 0.463000 5 35 0 0 1 0 0 DEPDC1B 55789 broad.mit.edu 37 5 59982922 59982922 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr5:59982922G>C ENST00000265036.5 - 2 248 c.181C>G c.(181-183)Caa>Gaa p.Q61E DEPDC1B_ENST00000545085.1_Missense_Mutation_p.Q34E|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.Q61E NM_018369.2 NP_060839.2 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B 61 DEP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.Q61K(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2) 17 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) CCGAAGTTTTGACTGCACCTC 0.488000 4 153 0 0 1 0 0 UNC45A 55898 broad.mit.edu 37 15 91478818 91478818 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr15:91478818C>G ENST00000394275.2 + 5 886 c.51C>G c.(49-51)ttC>ttG p.F17L UNC45A_ENST00000553671.2_3'UTR|UNC45A_ENST00000418476.2_Missense_Mutation_p.F32L NM_001039675.1 NP_001034764.1 Q9H3U1 UN45A_HUMAN unc-45 homolog A (C. elegans) 32 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) ATGAGCTGTTCAAATGTGGAG 0.682000 7 104 0 0 1 0 0 TUBB6 84617 broad.mit.edu 37 18 12325401 12325401 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr18:12325401G>A ENST00000317702.5 + 4 847 c.613G>A c.(613-615)Gag>Aag p.E205K TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron Q9BUF5 TBB6_HUMAN tubulin, beta 6 class V 205 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1) 14 READ - Rectum adenocarcinoma(1;0.0649) CATCGACAACGAGGCGCTCTA 0.602000 4 163 0 0 1 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42113896 42113896 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr15:42113896G>A ENST00000457542.2 + 24 3119 c.2833G>A c.(2833-2835)Gaa>Aaa p.E945K MAPKBP1_ENST00000514566.1_Missense_Mutation_p.E945K|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.E784K|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E828K|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.E951K NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 951 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) TGCACCCATTGAAGATGGTAT 0.562000 8 78 0 0 1 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51350317 51350317 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr15:51350317C>G ENST00000327536.5 - 3 739 c.640G>C c.(640-642)Gaa>Caa p.E214Q RP11-108K3.1_ENST00000559909.1_lincRNA NM_207381.2 NP_997264.2 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 8-like 3 214 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) AAGGTGTATTCCACCTCATAG 0.547000 8 112 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9254483 9254483 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr18:9254483C>T ENST00000383440.2 + 8 1406 c.1149C>T c.(1147-1149)ttC>ttT p.F383F ANKRD12_ENST00000400020.3_Silent_p.F383F|ANKRD12_ENST00000262126.3_Silent_p.F406F NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 406 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 AGAAAGCCTTCTATCCTAAAT 0.308000 8 129 0 0 1 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73091192 73091192 + Nonsense_Mutation SNP G G T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr5:73091192G>T ENST00000545377.1 + 9 1176 c.1000G>T c.(1000-1002)Gaa>Taa p.E334* ARHGEF28_ENST00000426542.2_Nonsense_Mutation_p.E334*|ARHGEF28_ENST00000437974.1_Nonsense_Mutation_p.E334*|ARHGEF28_ENST00000296794.6_Nonsense_Mutation_p.E334*|ARHGEF28_ENST00000287898.5_Nonsense_Mutation_p.E334*|ARHGEF28_ENST00000513042.2_Nonsense_Mutation_p.E334* NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 CAATGAACATGAAGACCAGCA 0.388000 10 131 3.07112e-06 3.13498e-06 1 1 0 ELP3 55140 broad.mit.edu 37 8 27987062 27987062 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr8:27987062G>C ENST00000256398.8 + 8 1038 c.661G>C c.(661-663)Gaa>Caa p.E221Q ELP3_ENST00000380353.4_Missense_Mutation_p.E129Q|ELP3_ENST00000521015.1_Missense_Mutation_p.E207Q|ELP3_ENST00000537665.1_Missense_Mutation_p.E102Q|ELP3_ENST00000542181.1_Missense_Mutation_p.E92Q|ELP3_ENST00000524103.1_Missense_Mutation_p.E149Q NM_018091.5 NP_060561.3 Q9H9T3 ELP3_HUMAN elongator acetyltransferase complex subunit 3 221 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) AATTACTATTGAAACCAGACC 0.398000 4 160 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70048882 70048882 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:70048882C>T ENST00000370598.1 + 25 4084 c.3263C>T c.(3262-3264)tCa>tTa p.S1088L BAI3_ENST00000546190.1_Missense_Mutation_p.S52L|BAI3_ENST00000238918.8_Missense_Mutation_p.S294L NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1088 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ACAGCTTTGTCAGCCACCACC 0.418000 8 200 0 0 1 0 0 SENP5 205564 broad.mit.edu 37 3 196650379 196650379 + Nonsense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:196650379C>G ENST00000323460.5 + 7 2228 c.1979C>G c.(1978-1980)tCa>tGa p.S660* SENP5_ENST00000445299.2_Intron|SENP5_ENST00000419026.1_Nonsense_Mutation_p.S150* NM_152699.4 NP_689912.2 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 660 Protease. cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1) 32 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) CGAATTATTTCATTTTATGAT 0.333000 7 156 0 0 1 0 0 IMP4 92856 broad.mit.edu 37 2 131102966 131102966 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:131102966G>C ENST00000259239.3 + 4 922 c.214G>C c.(214-216)Gat>Cat p.D72H IMP4_ENST00000409935.1_Missense_Mutation_p.D72H NM_033416.1 NP_219484.1 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) 72 rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 18 Colorectal(110;0.1) CAGCCACGTGGATGATGAATA 0.547000 6 36 0 0 1 0 0 MAP3K10 4294 broad.mit.edu 37 19 40715015 40715015 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:40715015G>C ENST00000253055.3 + 6 1729 c.1441G>C c.(1441-1443)Gag>Cag p.E481Q NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 481 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 NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 TGCAGGCTTTGAGCATAAGAT 0.502000 11 143 0 0 1 0 0 WDR5B 54554 broad.mit.edu 37 3 122134192 122134192 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:122134192C>T ENST00000330689.4 - 1 690 c.184G>A c.(184-186)Gat>Aat p.D62N NM_019069.3 NP_061942.2 Q86VZ2 WDR5B_HUMAN WD repeat domain 5B 62 kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 13 GBM - Glioblastoma multiforme(114;0.0704) ATTAGCCTATCAGCAGAAGAA 0.403000 19 312 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21147730 21147730 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr16:21147730C>T ENST00000261383.3 - 6 800 c.801G>A c.(799-801)ctG>ctA p.L267L DNAH3_ENST00000415178.1_Silent_p.L267L NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 267 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AGGGACTCGTCAGCAGCGTGT 0.498000 7 156 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73071382 73071382 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:73071382G>A ENST00000263674.3 + 11 4574 c.4224G>A c.(4222-4224)ctG>ctA p.L1408L NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1408 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 ACGATGCACTGCGGGACCTCT 0.652000 12 129 0 0 1 0 0 NEK7 140609 broad.mit.edu 37 1 198233296 198233296 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:198233296C>T ENST00000367385.4 + 5 645 c.303C>T c.(301-303)ttC>ttT p.F101F NEK7_ENST00000538004.1_Silent_p.F101F NM_133494.2 NP_598001.1 Q8TDX7 NEK7_HUMAN NIMA-related kinase 7 101 Protein kinase. cytoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 ATGCATCATTCATTGAAGATA 0.313000 10 176 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196664127 196664127 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:196664127C>G ENST00000312428.6 - 55 10346 c.10246G>C c.(10246-10248)Gat>Cat p.D3416H NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3416 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.D3416N(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTGGCTAAATCAAAGGGGGGT 0.438000 8 161 0 0 1 0 0 TMPRSS11A 339967 broad.mit.edu 37 4 68810254 68810254 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:68810254C>T ENST00000508048.1 - 3 267 c.232G>A c.(232-234)Gag>Aag p.E78K TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.E79K|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.E79K|RP11-453E17.1_ENST00000500538.2_RNA Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A 79 SEA. cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 TCGGTCGTCTCTCGTAAGTCC 0.338000 4 124 0 0 1 0 0 CSRNP2 81566 broad.mit.edu 37 12 51467818 51467818 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:51467818G>A ENST00000228515.1 - 3 496 c.199C>T c.(199-201)Cgc>Tgc p.R67C NM_030809.2 NP_110436.1 Q9H175 CSRN2_HUMAN cysteine-serine-rich nuclear protein 2 67 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 14 TGGTCAAAGCGTACATTCTTC 0.493000 12 113 0 0 1 0 0 NFE2L1 4779 broad.mit.edu 37 17 46128846 46128846 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:46128846C>T ENST00000362042.3 + 2 982 c.366C>T c.(364-366)ctC>ctT p.L122L NFE2L1_ENST00000357480.5_Silent_p.L122L|NFE2L1_ENST00000585291.1_Silent_p.L122L|NFE2L1_ENST00000361665.3_Silent_p.L122L NM_003204.2 NP_003195.1 Q14494 NF2L1_HUMAN nuclear factor, erythroid 2-like 1 122 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACTCAGGCCTCGCCCTCGAGA 0.592000 4 87 0 0 1 0 0 GALR1 2587 broad.mit.edu 37 18 74963085 74963085 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr18:74963085C>T ENST00000299727.3 + 1 581 c.581C>T c.(580-582)cCt>cTt p.P194L NM_001480.3 NP_001471.2 P47211 GALR1_HUMAN galanin receptor 1 194 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity p.P194N(2) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) TGGCCCGACCCTCGCCACAAG 0.662000 6 131 0 0 1 0 0 S1PR1 1901 broad.mit.edu 37 1 101704651 101704651 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:101704651C>T ENST00000305352.6 + 2 486 c.111C>T c.(109-111)atC>atT p.I37I S1PR1_ENST00000475821.1_3'UTR NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 37 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 AGCTGAATATCAGCGCGGACA 0.502000 OREG0013620 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 79 0 0 1 0 0 PAPD4 167153 broad.mit.edu 37 5 78936984 78936984 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr5:78936984G>A ENST00000453514.1 + 6 1330 c.637G>A c.(637-639)Gat>Aat p.D213N PAPD4_ENST00000504233.1_Missense_Mutation_p.D213N|PAPD4_ENST00000296783.3_Missense_Mutation_p.D213N|PAPD4_ENST00000423041.2_Missense_Mutation_p.D213N|PAPD4_ENST00000428308.2_Missense_Mutation_p.D213N NM_001114394.1 NP_001107866.1 Q6PIY7 GLD2_HUMAN PAP associated domain containing 4 213 histone mRNA catabolic process|mRNA processing|RNA polyadenylation cytoplasm ATP binding|metal ion binding|polynucleotide adenylyltransferase activity biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36) CCGGAGCAGTGATGGTGATTT 0.323000 11 358 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71027029 71027029 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:71027029C>T ENST00000318789.4 - 15 1823 c.1298G>A c.(1297-1299)gGa>gAa p.G433E FOXP1_ENST00000498215.1_Missense_Mutation_p.G433E|FOXP1_ENST00000491238.1_Missense_Mutation_p.G435E|FOXP1_ENST00000493089.1_Missense_Mutation_p.G433E|FOXP1_ENST00000468577.1_Missense_Mutation_p.G433E|FOXP1_ENST00000484350.1_Missense_Mutation_p.G357E|FOXP1_ENST00000475937.1_Missense_Mutation_p.G433E NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 433 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GCGGATGGGTCCCACCGTGTG 0.552000 T PAX5 ALL 12 195 0 0 1 0 0 FGL1 2267 broad.mit.edu 37 8 17722252 17722252 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr8:17722252G>C ENST00000398056.2 - 10 1603 c.788C>G c.(787-789)tCt>tGt p.S263C FGL1_ENST00000381840.2_Missense_Mutation_p.S263C|FGL1_ENST00000522444.1_Missense_Mutation_p.S263C|FGL1_ENST00000381841.2_Missense_Mutation_p.S263C|FGL1_ENST00000518650.1_Missense_Mutation_p.S263C|FGL1_ENST00000427924.1_Missense_Mutation_p.S263C|FGL1_ENST00000398054.1_Missense_Mutation_p.S263C Q08830 FGL1_HUMAN fibrinogen-like 1 263 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4) 13 Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215) CAGGTTTGCAGAGTGACACCT 0.408000 8 38 0 0 1 0 0 APOA4 337 broad.mit.edu 37 11 116692523 116692523 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:116692523G>A ENST00000357780.3 - 3 365 c.251C>T c.(250-252)gCc>gTc p.A84V NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) cagctcggtggcaaagggcac 0.602000 10 130 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34066517 34066517 + Silent SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:34066517G>C ENST00000373381.4 - 44 6980 c.6804C>G c.(6802-6804)ctC>ctG p.L2268L CSMD2_ENST00000373377.1_Silent_p.L367L|CSMD2_ENST00000373380.1_Silent_p.L1141L|CSMD2_ENST00000373388.2_Silent_p.L367L|CSMD2_ENST00000489419.1_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2270 CUB 13. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGTGGAACTTGAGCAGGACCT 0.582000 9 172 0 0 1 0 0 NEK1 4750 broad.mit.edu 37 4 170400599 170400599 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:170400599C>T ENST00000439128.2 - 22 2650 c.2010G>A c.(2008-2010)atG>atA p.M670I NEK1_ENST00000511633.1_Missense_Mutation_p.M654I|NEK1_ENST00000512193.1_Missense_Mutation_p.M601I|NEK1_ENST00000510533.1_Missense_Mutation_p.M626I|NEK1_ENST00000507142.1_Missense_Mutation_p.M698I NM_012224.2 NP_036356.1 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 670 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1) 45 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) TAACAGATCTCATCTGTTGCT 0.378000 9 110 0 0 1 0 0 DZIP1 22873 broad.mit.edu 37 13 96238340 96238340 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr13:96238340G>A ENST00000347108.3 - 19 2701 c.2269C>T c.(2269-2271)Cgc>Tgc p.R757C DZIP1_ENST00000361396.2_Missense_Mutation_p.R738C|DZIP1_ENST00000361156.3_Missense_Mutation_p.R738C|DZIP1_ENST00000376829.2_Missense_Mutation_p.R757C Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 757 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) ACATTTTTGCGATGTGGAAAC 0.318000 5 78 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179414070 179414070 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:179414070C>G ENST00000589042.1 - 339 92507 c.92283G>C c.(92281-92283)aaG>aaC p.K30761N TTN-AS1_ENST00000592750.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K29120N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K21696N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K21888N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K21821N|TTN_ENST00000342992.6_Missense_Mutation_p.K28193N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29120 Fibronectin type-III 124. 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) TTGTGCTTTTCTTTTCTCTTC 0.418000 8 103 0 0 1 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51955714 51955714 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:51955714G>C ENST00000321424.3 - 7 1485 c.1419C>G c.(1417-1419)atC>atG p.I473M SIGLEC8_ENST00000430817.1_Missense_Mutation_p.I364M|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.I380M NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 473 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TGTGGATCTTGATCTCCGAGT 0.517000 9 131 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7812249 7812249 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:7812249C>T ENST00000315599.7 - 2 71 c.49G>A c.(49-51)Gag>Aag p.E17K CD209_ENST00000315591.8_Missense_Mutation_p.E17K|CD209_ENST00000601256.1_Missense_Mutation_p.E17K|CD209_ENST00000354397.6_Missense_Mutation_p.E17K|CD209_ENST00000394161.5_Missense_Mutation_p.E17K|CD209_ENST00000593821.1_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.E17K|CD209_ENST00000394173.4_Missense_Mutation_p.E17K|CD209_ENST00000204801.8_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.E17K|CD209_ENST00000593660.1_Missense_Mutation_p.E17K NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 17 cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 AGCTGTTCCTCCTCTGAATGG 0.572000 22 366 0 0 1 0 0 GTF2H5 404672 broad.mit.edu 37 6 158613079 158613079 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:158613079C>G ENST00000607778.1 + 3 184 c.106C>G c.(106-108)Caa>Gaa p.Q36E NM_207118.2 NP_997001.1 Q6ZYL4 TF2H5_HUMAN general transcription factor IIH, polypeptide 5 36 nucleotide-excision repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;5.98e-18)|BRCA - Breast invasive adenocarcinoma(81;2.83e-05) GTTCATCATTCAAGACATTGA 0.423000 Nucleotide excision repair (NER) 11 111 0 0 1 0 0 ANLN 54443 broad.mit.edu 37 7 36455439 36455439 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:36455439G>C ENST00000265748.2 + 8 1689 c.1468G>C c.(1468-1470)Gaa>Caa p.E490Q ANLN_ENST00000495714.1_Intron|ANLN_ENST00000396068.2_Missense_Mutation_p.E490Q NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 490 Interaction with F-actin. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 TCCAGTAACAGAAAAGGTGAC 0.383000 4 172 0 0 1 0 0 ATF1 466 broad.mit.edu 37 12 51203320 51203320 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:51203320C>T ENST00000262053.3 + 4 298 c.276C>T c.(274-276)gtC>gtT p.V92V ATF1_ENST00000539132.1_Intron NM_005171.4 NP_005162.1 P18846 ATF1_HUMAN activating transcription factor 1 92 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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 EWSR1/ATF1(347)|FUS/ATF1(4) breast(1)|large_intestine(1)|ovary(2) 4 CTGCTGCTGTCACTTCTATGT 0.393000 T """EWSR1, FUS""" """malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """ 10 114 0 0 1 0 0 FIGN 55137 broad.mit.edu 37 2 164467396 164467396 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:164467396G>A ENST00000333129.3 - 3 1260 c.946C>T c.(946-948)Ctc>Ttc p.L316F FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 316 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 TTCCTTTTGAGAGAACTTGCT 0.502000 5 104 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40902682 40902682 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:40902682G>A ENST00000324001.7 - 7 1847 c.1577C>T c.(1576-1578)tCg>tTg p.S526L PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 526 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding p.S526L(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TTTCATCTCCGACACTTTCAG 0.567000 9 200 0 0 1 0 0 HNRNPA1 3178 broad.mit.edu 37 12 54678090 54678090 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:54678090G>C ENST00000546500.1 + 9 1571 c.956G>C c.(955-957)aGa>aCa p.R319T HNRNPA1_ENST00000547276.1_Missense_Mutation_p.R266T|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.R371T|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.R306T|RP11-968A15.8_ENST00000553061.1_RNA P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 371 Gly-rich. interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 AGTGGCAGAAGATTTTAATTA 0.378000 5 69 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126408688 126408688 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:126408688C>T ENST00000394329.3 + 16 13018 c.13005C>T c.(13003-13005)ttC>ttT p.F4335F FAT4_ENST00000335110.5_Silent_p.F2576F NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4335 Laminin G-like 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTCAGGACTTCGGTGGCCTTG 0.418000 8 106 0 0 1 0 0 MBD6 114785 broad.mit.edu 37 12 57921393 57921393 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:57921393C>T ENST00000355673.3 + 8 2542 c.2186C>T c.(2185-2187)tCa>tTa p.S729L MBD6_ENST00000431731.2_Missense_Mutation_p.S729L NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 729 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 CCCTCCAACTCAGGGAGACCC 0.617000 7 176 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43447198 43447198 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:43447198C>G ENST00000395891.1 + 8 1274 c.669C>G c.(667-669)ttC>ttG p.F223L HECW1_ENST00000453890.1_Missense_Mutation_p.F223L|HECW1_ENST00000471043.1_3'UTR NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 223 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GGATGTTTTTCAACCCAGACC 0.428000 3 50 0 0 1 0 0 IFNGR2 3460 broad.mit.edu 37 21 34799249 34799249 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr21:34799249C>G ENST00000290219.6 + 4 1119 c.471C>G c.(469-471)atC>atG p.I157M IFNGR2_ENST00000381995.1_Missense_Mutation_p.I176M|IFNGR2_ENST00000405436.1_Missense_Mutation_p.I78M NM_005534.3 NP_005525.2 P38484 INGR2_HUMAN interferon gamma receptor 2 (interferon gamma transducer 1) 157 Fibronectin type-III 2. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13 Interferon gamma-1b(DB00033) CCCTCATCATCAGGTTCTCCT 0.453000 15 278 0 0 1 0 0 SUFU 51684 broad.mit.edu 37 10 104359284 104359284 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr10:104359284C>T ENST00000369902.3 + 8 1171 c.1005C>T c.(1003-1005)ctC>ctT p.L335L SUFU_ENST00000423559.2_Silent_p.L335L|SUFU_ENST00000369899.2_Silent_p.L335L|SUFU_ENST00000471000.1_3'UTR NM_016169.3 NP_057253.2 Q9UMX1 SUFU_HUMAN suppressor of fused homolog (Drosophila) 335 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) AGAATGGCCTCGCCCACGACC 0.577000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation 4 66 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54327417 54327417 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:54327417G>A ENST00000324134.6 - 1 180 c.12C>T c.(10-12)acC>acT p.T4T NLRP12_ENST00000351894.4_Silent_p.T4T|NLRP12_ENST00000391775.3_Silent_p.T4T|NLRP12_ENST00000354278.3_Silent_p.T4T|NLRP12_ENST00000391772.1_Silent_p.T4T|NLRP12_ENST00000345770.5_Silent_p.T4T|NLRP12_ENST00000391773.1_Silent_p.T4T|NLRP12_ENST00000535162.1_Silent_p.T4T NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 4 DAPIN. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CCCTGCCTGCGGTTCGTAGCA 0.602000 5 46 0 0 1 0 0 SMAD2 4087 broad.mit.edu 37 18 45368239 45368239 + Nonsense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr18:45368239G>A ENST00000402690.2 - 11 1757 c.1363C>T c.(1363-1365)Cag>Tag p.Q455* SMAD2_ENST00000262160.6_Nonsense_Mutation_p.Q455*|SMAD2_ENST00000356825.4_Nonsense_Mutation_p.Q425*|SMAD2_ENST00000586040.1_Nonsense_Mutation_p.Q425* NM_001003652.3 NP_001003652.1 Q15796 SMAD2_HUMAN SMAD family member 2 455 MH2. anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1) 43 GATCCCATCTGAGTTAATACT 0.413000 6 72 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10094157 10094157 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:10094157G>C ENST00000287647.3 + 18 1725 c.1632G>C c.(1630-1632)caG>caC p.Q544H FANCD2_ENST00000383807.1_Missense_Mutation_p.Q544H|FANCD2_ENST00000419585.1_Missense_Mutation_p.Q544H|FANCD2_ENST00000383806.1_Missense_Mutation_p.Q544H NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 544 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TTAGCAAACAGAATGAAGCCA 0.408000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 5 77 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152080837 152080837 + Missense_Mutation SNP C C G rs71585886 TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:152080837C>G ENST00000368804.1 - 2 4855 c.4856G>C c.(4855-4857)aGa>aCa p.R1619T NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1619 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCGGAATTTTCTGTCGCGCTC 0.582000 15 171 0 0 1 0 0 IGKV1-5 28299 broad.mit.edu 37 2 89246896 89246896 + RNA SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:89246896C>T ENST00000496168.1 - 0 454 AGAGTGAATTCTGTCCCAGAT 0.478000 7 190 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37745714 37745714 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr9:37745714G>C ENST00000539465.1 + 16 4278 c.3685G>C c.(3685-3687)Gag>Cag p.E1229Q FRMPD1_ENST00000377765.3_Missense_Mutation_p.E1229Q|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1229 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) GATCAAGGCAGAGGCACCTAA 0.502000 5 103 0 0 1 0 0 NPM3 10360 broad.mit.edu 37 10 103542342 103542342 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr10:103542342C>T ENST00000370110.5 - 3 239 c.217G>A c.(217-219)Gag>Aag p.E73K NPM3_ENST00000474993.1_5'UTR NM_006993.2 NP_008924.1 O75607 NPM3_HUMAN nucleophosmin/nucleoplasmin 3 73 nucleic acid binding large_intestine(3)|lung(1)|skin(1) 5 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) TTGGCTCCCTCGGTGAGGCAG 0.577000 5 54 0 0 1 0 0 RNF43 54894 broad.mit.edu 37 17 56492888 56492888 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:56492888C>T ENST00000584437.1 - 1 2006 c.51G>A c.(49-51)ctG>ctA p.L17L RNF43_ENST00000583753.1_Silent_p.L17L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000577716.1_Silent_p.L17L|RNF43_ENST00000500597.2_Silent_p.L17L|RNF43_ENST00000407977.2_Silent_p.L17L Q68DV7 RNF43_HUMAN ring finger protein 43 17 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGGTAGCCATCAGCAGCCAGG 0.562000 10 73 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113395847 113395847 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr8:113395847C>T ENST00000297405.5 - 37 6224 c.5980G>A c.(5980-5982)Gac>Aac p.D1994N CSMD3_ENST00000455883.2_Missense_Mutation_p.D1890N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1924N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1954N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1994 CUB 11. 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 TCATAAAAGTCCAGAGAATCC 0.343000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 91 0 0 1 0 0 NUMA1 4926 broad.mit.edu 37 11 71724989 71724989 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:71724989G>C ENST00000393695.3 - 15 3891 c.3560C>G c.(3559-3561)tCg>tGg p.S1187W NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.S1187W NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1187 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 CCGTTGGGCCGAGGCTAAGGC 0.652000 T RARA APL 4 66 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9011002 9011002 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:9011002G>A ENST00000397910.4 - 37 39119 c.38916C>T c.(38914-38916)ttC>ttT p.F12972F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12974 cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCCGATGGGTGAAACCTGCAT 0.542000 10 164 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152083910 152083910 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:152083910C>T ENST00000368804.1 - 2 1782 c.1783G>A c.(1783-1785)Gaa>Aaa p.E595K NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 595 9 X 28 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGCCTCTCTTCCTGCTCGCGC 0.682000 6 99 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64691258 64691258 + Missense_Mutation SNP G G A rs148791608 TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr14:64691258G>A ENST00000357395.3 + 114 20692 c.9548G>A c.(9547-9549)cGa>cAa p.R3183Q SYNE2_ENST00000458046.2_Missense_Mutation_p.R469Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.R3455Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.R6714Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.R676Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.R581Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.R3183Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6821Q|SYNE2_ENST00000441438.2_Missense_Mutation_p.R343Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.R6798Q Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6798 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CCAGCTCCCCGAGCAAAGGTA 0.542000 6 74 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143806930 143806930 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:143806930G>A ENST00000408979.2 + 1 324 c.255G>A c.(253-255)atG>atA p.M85I NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) CAAACCTAATGAACCAGAAAA 0.428000 7 220 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5922222 5922222 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr9:5922222C>T ENST00000399933.3 - 8 3773 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q KIAA2026_ENST00000381461.2_Silent_p.Q1228Q NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 1258 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) AATCAGCAGTCTGTTGTGCAA 0.448000 8 82 0 0 1 0 0 MED16 10025 broad.mit.edu 37 19 880111 880111 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:880111G>A ENST00000312090.6 - 8 1329 c.1179C>T c.(1177-1179)atC>atT p.I393I MED16_ENST00000589119.1_Silent_p.I393I|MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Silent_p.I393I|MED16_ENST00000269814.4_Silent_p.I393I|MED16_ENST00000325464.1_Silent_p.I393I Q9Y2X0 MED16_HUMAN mediator complex subunit 16 393 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCGGTGCACGATGTGGACGC 0.721000 3 22 0 0 1 0 0 BZW1 9689 broad.mit.edu 37 2 201680219 201680219 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:201680219C>G ENST00000409600.1 + 3 675 c.220C>G c.(220-222)Ctg>Gtg p.L74V BZW1_ENST00000409226.1_Missense_Mutation_p.L78V|BZW1_ENST00000452790.2_Missense_Mutation_p.L106V NM_001207067.1|NM_014670.3 NP_001193996.1|NP_055485.2 Q7L1Q6 BZW1_HUMAN basic leucine zipper and W2 domains 1 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm protein binding breast(1)|kidney(2)|large_intestine(1)|lung(2) 6 CTTTGACATTCTGGTGGCTGG 0.398000 4 40 0 0 1 0 0 ATN1 1822 broad.mit.edu 37 12 7045484 7045484 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:7045484C>T ENST00000356654.4 + 5 1291 c.1054C>T c.(1054-1056)Ctg>Ttg p.L352L ATN1_ENST00000396684.2_Silent_p.L352L NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 352 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding p.L352V(1) breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 GGGCCCAACTCTGGCTCCTTC 0.612000 13 140 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 192997178 192997178 + Nonsense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:192997178G>A ENST00000342358.4 - 28 3409 c.3292C>T c.(3292-3294)Caa>Taa p.Q1098* ATP13A5_ENST00000495496.1_5'UTR NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 1098 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TATATAACTTGAAAGTCAGAA 0.358000 4 93 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283664 152283664 + Nonsense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:152283664G>C ENST00000368799.1 - 3 3733 c.3698C>G c.(3697-3699)tCa>tGa p.S1233* FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1233 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACGTGACCCTGAGTGCCTGGA 0.567000 Ichthyosis 5 458 0 0 1 0 0 CUL1 8454 broad.mit.edu 37 7 148457514 148457514 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:148457514G>A ENST00000325222.4 + 7 994 c.715G>A c.(715-717)Gac>Aac p.D239N CUL1_ENST00000409469.1_Missense_Mutation_p.D239N|CUL1_ENST00000602748.1_Missense_Mutation_p.D239N NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 239 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) ATTTTTGGCTGACACAGAGAG 0.358000 12 180 0 0 1 0 0 SOWAHB 345079 broad.mit.edu 37 4 77817787 77817787 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:77817787C>T ENST00000334306.2 - 1 1215 c.1216G>A c.(1216-1218)Gag>Aag p.E406K NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 406 CTGCTCTCCTCACTGCCATCA 0.582000 4 114 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29912276 29912276 + Splice_Site SNP G G T rs45540334 TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:29912276G>T ENST00000396634.1 + 7 1236 c.e7-1 HLA-A_ENST00000376806.5_Splice_Site|HLA-A_ENST00000376809.5_Splice_Site|HLA-A_ENST00000376802.2_Intron P30443 1A01_HUMAN major histocompatibility complex, class I, A antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.?(1) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCTTTTCCCAGAGCTGTCTTC 0.587000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 4 85 0.00909568 0.00916356 1 1 0 UBR2 23304 broad.mit.edu 37 6 42620295 42620295 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:42620295C>T ENST00000372899.1 + 25 2939 c.2681C>T c.(2680-2682)tCa>tTa p.S894L UBR2_ENST00000372901.1_Missense_Mutation_p.S894L|UBR2_ENST00000372883.3_Missense_Mutation_p.S398L NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 894 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) ATTTTGCAGTCAGATGTCATG 0.448000 16 230 0 0 1 0 0 MTMR7 9108 broad.mit.edu 37 8 17169112 17169112 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr8:17169112G>A ENST00000180173.5 - 9 1043 c.1009C>T c.(1009-1011)Cac>Tac p.H337Y MTMR7_ENST00000521857.1_Missense_Mutation_p.H337Y|MTMR7_ENST00000398099.3_5'UTR NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 337 Myotubularin phosphatase. protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) TCAGAACAGTGAACAAGCACA 0.537000 30 380 0 0 1 0 0 ZNF215 7762 broad.mit.edu 37 11 6977082 6977082 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:6977082G>C ENST00000278319.5 + 7 1462 c.874G>C c.(874-876)Gag>Cag p.E292Q ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Missense_Mutation_p.E292Q NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 292 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) TTTCATTCCTGAGACAATTTA 0.363000 10 141 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103279445 103279445 + Nonsense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr13:103279445C>T ENST00000376052.3 + 7 884 c.868C>T c.(868-870)Caa>Taa p.Q290* TPP2_ENST00000376065.4_Nonsense_Mutation_p.Q290* P29144 TPP2_HUMAN tripeptidyl peptidase II 290 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCCTGGTGCTCAAATTCTTTC 0.458000 5 111 0 0 1 0 0 ADORA3 140 broad.mit.edu 37 1 112042929 112042929 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:112042929G>A ENST00000241356.4 - 2 1005 c.600C>T c.(598-600)atC>atT p.I200I ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron NM_000677.3 NP_000668.1 P33765 AA3R_HUMAN adenosine A3 receptor 200 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) TGATGTAAAAGATGTCAAGAT 0.428000 6 111 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1903191 1903191 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr20:1903191C>T ENST00000358771.4 + 4 1139 c.987C>T c.(985-987)ctC>ctT p.L329L SIRPA_ENST00000400068.3_Silent_p.L329L|SIRPA_ENST00000356025.3_Silent_p.L329L NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 329 Ig-like C1-type 2. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) ATGTGAAGCTCACCTGCCAGG 0.572000 6 50 0 0 1 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135908057 135908057 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:135908057C>T ENST00000264158.8 + 18 2085 c.2042C>T c.(2041-2043)tCa>tTa p.S681L RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.S637L|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.S681L NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 681 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) TGTCTGCTCTCAGATATGGAG 0.468000 6 70 0 0 1 0 0 C2orf42 54980 broad.mit.edu 37 2 70406677 70406677 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:70406677C>T ENST00000264434.2 - 4 1300 c.921G>A c.(919-921)aaG>aaA p.K307K C2orf42_ENST00000420306.1_Silent_p.K307K NM_017880.1 NP_060350.1 Q9NWW7 CB042_HUMAN chromosome 2 open reading frame 42 307 endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 ATACTTCATCCTTTCTCCTCT 0.393000 8 90 0 0 1 0 0 GLS2 27165 broad.mit.edu 37 12 56865935 56865935 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:56865935G>A ENST00000311966.4 - 16 1834 c.1556C>T c.(1555-1557)tCg>tTg p.S519L NM_013267.2 NP_037399.2 Q9UI32 GLSL_HUMAN glutaminase 2 (liver, mitochondrial) 519 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AGCTGTGCGCGAGTCATAGTC 0.493000 26 150 0 0 1 0 0 SNX30 401548 broad.mit.edu 37 9 115593065 115593065 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr9:115593065G>A ENST00000374232.3 + 4 684 c.520G>A c.(520-522)Gag>Aag p.E174K NM_001012994.1 NP_001013012.1 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 174 PX. cell communication|protein transport cytoplasm phosphatidylinositol binding large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 AGAGTTTGTGGAGACCAGAAG 0.368000 8 120 0 0 1 0 0 DIP2B 57609 broad.mit.edu 37 12 51116998 51116998 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:51116998C>T ENST00000301180.5 + 27 3214 c.3180C>T c.(3178-3180)atC>atT p.I1060I NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 1060 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 TTGAGTTAATCGCCGCCTTCT 0.502000 18 138 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27209227 27209227 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr9:27209227G>A ENST00000380036.4 + 16 3126 c.2684G>A c.(2683-2685)cGa>cAa p.R895Q TEK_ENST00000406359.4_Missense_Mutation_p.R852Q|TEK_ENST00000519097.1_Missense_Mutation_p.R747Q NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 895 Protein kinase. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TGTGAACATCGAGGTAAGATG 0.383000 4 42 0 0 1 0 0 TM4SF19 116211 broad.mit.edu 37 3 196054326 196054326 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:196054326G>C ENST00000446879.1 - 2 261 c.136C>G c.(136-138)Ctg>Gtg p.L46V TM4SF19_ENST00000454715.1_Missense_Mutation_p.L46V|TM4SF19_ENST00000273695.3_Missense_Mutation_p.L46V Q96DZ7 T4S19_HUMAN transmembrane 4 L six family member 19 46 integral to membrane endometrium(2)|kidney(2)|large_intestine(3)|lung(5) 12 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) CCCCTCAACAGGTAGGTGACA 0.607000 12 129 0 0 1 0 0 CCDC63 160762 broad.mit.edu 37 12 111296483 111296483 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:111296483G>A ENST00000308208.5 + 4 515 c.273G>A c.(271-273)aaG>aaA p.K91K CCDC63_ENST00000545036.1_Silent_p.K51K|CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000552694.1_Silent_p.K12K NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 91 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 GGAGTGAGAAGAACTACATGG 0.478000 4 70 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104069774 104069774 + Missense_Mutation SNP T T A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:104069774T>A ENST00000388887.2 + 24 2825 c.2621T>A c.(2620-2622)cTa>cAa p.L874Q NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 874 EGF-like 8. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TGCACAGGACTAACTCCAGGA 0.453000 4 60 0 0 1 0 0 SLC25A25 114789 broad.mit.edu 37 9 130854214 130854214 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr9:130854214G>A ENST00000373066.5 + 1 472 c.65G>A c.(64-66)aGa>aAa p.R22K RP11-379C10.4_ENST00000453870.1_RNA|SLC25A25_ENST00000432073.2_Missense_Mutation_p.R22K|SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000373069.5_Intron NM_001265614.2 NP_001252543.1 Q6KCM7 SCMC2_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 0 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3) 10 CACGGCTCCAGAGAGGGGGAC 0.597000 9 169 0 0 1 0 0 SLC11A2 4891 broad.mit.edu 37 12 51402270 51402270 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:51402270G>C ENST00000394904.3 - 3 308 c.259C>G c.(259-261)Cct>Gct p.P87A SLC11A2_ENST00000545993.2_Missense_Mutation_p.P54A|SLC11A2_ENST00000541174.2_Missense_Mutation_p.P58A|SLC11A2_ENST00000547198.1_Missense_Mutation_p.P58A|SLC11A2_ENST00000549193.1_5'UTR|SLC11A2_ENST00000262051.7_Missense_Mutation_p.P58A|SLC11A2_ENST00000262052.5_Missense_Mutation_p.P58A|SLC11A2_ENST00000547688.1_Missense_Mutation_p.P87A|SLC11A2_ENST00000546743.1_5'UTR NM_001174125.1 NP_001167596.1 P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 58 activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1) 36 TCCTCCTCAGGAATGGAGATC 0.483000 14 178 0 0 1 0 0 HSPH1 10808 broad.mit.edu 37 13 31725112 31725112 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr13:31725112C>G ENST00000320027.5 - 7 1224 c.880G>C c.(880-882)Gat>Cat p.D294H HSPH1_ENST00000445273.2_Missense_Mutation_p.D296H|HSPH1_ENST00000380405.4_Missense_Mutation_p.D294H|HSPH1_ENST00000429785.2_Missense_Mutation_p.D113H|HSPH1_ENST00000380406.5_Missense_Mutation_p.D253H NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 294 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) ACATCTTTATCATTCATAAAG 0.388000 5 109 0 0 1 0 0 BAIAP2L1 55971 broad.mit.edu 37 7 97949564 97949564 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:97949564C>G ENST00000005260.8 - 4 476 c.261G>C c.(259-261)gaG>gaC p.E87D BAIAP2L1_ENST00000462558.1_5'UTR NM_018842.4 NP_061330.2 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 87 IMD. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1) 23 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) CATCAAGACTCTCGTTGAGTT 0.353000 4 68 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123152314 123152314 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:123152314G>A ENST00000466202.1 - 2 657 c.81C>T c.(79-81)gtC>gtT p.V27V IQUB_ENST00000434450.1_Silent_p.V27V|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Silent_p.V27V Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 27 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 CTGGAATAGTGACAGTATCAA 0.373000 7 122 0 0 1 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58187634 58187634 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:58187634G>A ENST00000318203.5 + 3 818 c.121G>A c.(121-123)Gag>Aag p.E41K NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 41 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 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;0.026) AGGGATTTCTGAGTTCTCAAG 0.398000 8 107 0 0 1 0 0 PAMR1 25891 broad.mit.edu 37 11 35456291 35456291 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:35456291C>G ENST00000378880.2 - 10 1840 c.1395G>C c.(1393-1395)caG>caC p.Q465H PAMR1_ENST00000532848.1_Missense_Mutation_p.Q425H|PAMR1_ENST00000278360.3_Missense_Mutation_p.Q482H|PAMR1_ENST00000378878.3_Missense_Mutation_p.Q354H NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 465 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 AGATGGCTGCCTGCCACGGCC 0.562000 9 99 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211421499 211421499 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:211421499G>A ENST00000233072.5 + 1 238 c.42G>A c.(40-42)ctG>ctA p.L14L CPS1_ENST00000430249.2_Silent_p.L20L NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 14 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TGAGGACACTGAAGACTGGTT 0.363000 9 125 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21904161 21904161 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:21904161G>A ENST00000328843.6 + 71 11434 c.11403G>A c.(11401-11403)ttG>ttA p.L3801L DNAH11_ENST00000409508.3_Silent_p.L3794L Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3801 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AGATTTTGTTGAGAAAGAAAG 0.378000 Kartagener syndrome 5 120 0 0 1 0 0 FCGR2A 2212 broad.mit.edu 37 1 161479635 161479635 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:161479635C>T ENST00000271450.6 + 4 428 c.390C>T c.(388-390)caC>caT p.H130H FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Silent_p.H129H NM_001136219.1|NM_021642.3 NP_001129691.1|NP_067674.2 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor (CD32) 130 Ig-like C2-type 2. integral to membrane|plasma membrane IgG binding|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1) 19 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGACCCCTCACCTGGAGTTCC 0.468000 11 130 0 0 1 0 0 GAPDH 2597 broad.mit.edu 37 12 6647075 6647075 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:6647075C>G ENST00000229239.5 + 8 1517 c.851C>G c.(850-852)tCt>tGt p.S284C GAPDH_ENST00000396858.1_Missense_Mutation_p.S242C|GAPDH_ENST00000396861.1_Missense_Mutation_p.S284C|GAPDH_ENST00000396856.1_Missense_Mutation_p.S209C|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396859.1_Missense_Mutation_p.S284C NM_002046.4 NP_002037.2 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 284 gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4) 7 NADH(DB00157) GTGGTCTCCTCTGACTTCAAC 0.567000 OREG0021628 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 60 0 0 1 0 0 VRK2 7444 broad.mit.edu 37 2 58386584 58386584 + Nonsense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:58386584C>G ENST00000435505.2 + 16 2028 c.1283C>G c.(1282-1284)tCa>tGa p.S428* FANCL_ENST00000402135.3_3'UTR|FANCL_ENST00000403295.3_3'UTR|VRK2_ENST00000440705.2_Nonsense_Mutation_p.S405*|FANCL_ENST00000233741.4_3'UTR|VRK2_ENST00000340157.4_Nonsense_Mutation_p.S428*|VRK2_ENST00000417641.2_3'UTR|VRK2_ENST00000412104.2_3'UTR Q86Y07 VRK2_HUMAN vaccinia related kinase 2 428 integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 24 TTCCCAAACTCATTTTATGAG 0.378000 7 86 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32185850 32185850 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:32185850C>G ENST00000375023.3 - 9 1684 c.1546G>C c.(1546-1548)Gag>Cag p.E516Q NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 516 EGF-like 13; calcium-binding (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GAGGCACACTCGTTGGTCTCC 0.607000 3 17 0 0 1 0 0 BRAP 8315 broad.mit.edu 37 12 112110555 112110555 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:112110555C>T ENST00000419234.4 - 5 850 c.657G>A c.(655-657)atG>atA p.M219I BRAP_ENST00000327551.6_Missense_Mutation_p.M189I|BRAP_ENST00000539060.1_Intron NM_006768.3 NP_006759.3 Q7Z569 BRAP_HUMAN BRCA1 associated protein 219 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 20 CATTGCATGTCATATAAAAAC 0.393000 6 106 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 5605718 5605718 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chrY:5605718C>T ENST00000215473.6 + 6 3758 c.3758C>T c.(3757-3759)tCt>tTt p.S1253F Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 1253 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CACAGCTCTTCTCTGCCACAG 0.547000 4 108 0 0 1 0 0 ANXA5 308 broad.mit.edu 37 4 122605900 122605900 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:122605900G>A ENST00000296511.5 - 4 406 c.121C>T c.(121-123)Ctg>Ttg p.L41L ANXA5_ENST00000501272.2_Intron|ANXA5_ENST00000515017.1_Intron|ANXA5_ENST00000509016.1_5'UTR NM_001154.3 NP_001145.1 P08758 ANXA5_HUMAN annexin A5 41 anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1) 15 GATGTCAACAGAGTCAGGATG 0.468000 8 137 0 0 1 0 0 CD38 952 broad.mit.edu 37 4 15850161 15850161 + Splice_Site SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:15850161G>C ENST00000226279.2 + 8 976 c.e8-1 NM_001775.2 NP_001766.2 P28907 CD38_HUMAN CD38 molecule B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1) 14 TCTTGTCATAGACCTGACAAG 0.448000 7 62 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33014457 33014457 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr14:33014457G>A ENST00000280979.4 + 4 768 c.598G>A c.(598-600)Gaa>Aaa p.E200K AKAP6_ENST00000557354.1_Missense_Mutation_p.E200K|AKAP6_ENST00000557272.1_Missense_Mutation_p.E200K NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 200 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TTCTCTAACAGAAGTGGATGA 0.398000 4 149 0 0 1 0 0 FAM160B1 57700 broad.mit.edu 37 10 116595331 116595331 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr10:116595331C>T ENST00000369248.4 + 4 665 c.330C>T c.(328-330)ttC>ttT p.F110F FAM160B1_ENST00000369250.3_Silent_p.F110F NM_020940.3 NP_065991.3 Q5W0V3 F16B1_HUMAN family with sequence similarity 160, member B1 110 NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 TTTTGGTTTTCTATACGAAAC 0.423000 4 64 0 0 1 0 0 MPP1 4354 broad.mit.edu 37 X 154019323 154019323 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chrX:154019323C>T ENST00000413259.3 - 5 648 c.256G>A c.(256-258)Gag>Aag p.E86K MPP1_ENST00000462825.1_Intron|MPP1_ENST00000369534.3_Missense_Mutation_p.E116K|MPP1_ENST00000393531.1_Missense_Mutation_p.E116K NM_001166462.1 NP_001159934.1 Q00013 EM55_HUMAN membrane protein, palmitoylated 1, 55kDa 116 PDZ. regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1) 21 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TCTAGGATCTCATCCCCCACG 0.418000 8 137 0 0 1 0 0 PRKAR1B 5575 broad.mit.edu 37 7 645871 645871 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:645871C>T ENST00000406797.1 - 6 682 c.508G>A c.(508-510)Gaa>Aaa p.E170K PRKAR1B_ENST00000403562.1_Missense_Mutation_p.E170K|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.E170K|AC147651.4_ENST00000429872.1_RNA|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.E170K|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.E170K NM_001164761.1 NP_001158233.1 P31321 KAP1_HUMAN protein kinase, cAMP-dependent, regulatory, type I, beta 170 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1) 17 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) TTGTCTCCTTCATTCCCTGTA 0.423000 6 163 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37027509 37027509 + Nonsense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr5:37027509C>T ENST00000282516.8 + 32 6356 c.5857C>T c.(5857-5859)Caa>Taa p.Q1953* NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Q1953* NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1953 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GCAACTGCTTCAAAACGTGAG 0.313000 19 106 0 0 1 0 0 OGFOD1 55239 broad.mit.edu 37 16 56485645 56485645 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr16:56485645G>A ENST00000566157.1 + 1 244 c.121G>A c.(121-123)Gag>Aag p.E41K OGFOD1_ENST00000568397.1_Missense_Mutation_p.E41K NM_018233.3 NP_060703.3 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase domain containing 1 41 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 Vitamin C(DB00126) GCAGGTGGCTGAGGCCTGGAG 0.612000 4 73 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48591940 48591940 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr18:48591940C>G ENST00000342988.3 + 9 1641 c.1103C>G c.(1102-1104)tCc>tGc p.S368C SMAD4_ENST00000398417.2_Missense_Mutation_p.S368C|SMAD4_ENST00000588745.1_Missense_Mutation_p.S272C NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 368 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GGTCAACTCTCCAATGTCCAC 0.403000 5 83 0 0 1 0 0 ELF1 1997 broad.mit.edu 37 13 41515396 41515396 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr13:41515396G>A ENST00000239882.3 - 8 1231 c.917C>T c.(916-918)tCc>tTc p.S306F ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.S282F NM_172373.3 NP_758961.1 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription factor) 306 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) CTCTATGCTGGAACTTGGATC 0.418000 9 194 0 0 1 0 0 SPTLC2 9517 broad.mit.edu 37 14 78028818 78028818 + Silent SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr14:78028818C>G ENST00000216484.2 - 6 964 c.771G>C c.(769-771)ctG>ctC p.L257L NM_004863.3 NP_004854.1 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base subunit 2 257 integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5) 19 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GTTCATCACTCAGAATCAGGC 0.433000 7 79 0 0 1 0 0 CASKIN2 57513 broad.mit.edu 37 17 73498870 73498870 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:73498870G>A ENST00000321617.3 - 18 2871 c.2285C>T c.(2284-2286)tCa>tTa p.S762L CASKIN2_ENST00000433559.2_Missense_Mutation_p.S680L NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 762 Pro-rich. cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GCTAGAGGGTGAGCCCTGGGG 0.657000 4 69 0 0 1 0 0 KLHL11 55175 broad.mit.edu 37 17 40010360 40010360 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:40010360C>T ENST00000319121.3 - 2 1819 c.1759G>A c.(1759-1761)Gag>Aag p.E587K NM_018143.1 NP_060613.1 Q9NVR0 KLH11_HUMAN kelch-like family member 11 587 extracellular region NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 Breast(137;0.00156) TCAAGGATCTCATCAGACACT 0.408000 8 146 0 0 1 0 0 PRIM1 5557 broad.mit.edu 37 12 57135604 57135604 + Nonsense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:57135604G>A ENST00000338193.6 - 8 802 c.766C>T c.(766-768)Caa>Taa p.Q256* NM_000946.2 NP_000937.1 P49642 PRI1_HUMAN primase, DNA, polypeptide 1 (49kDa) 256 DNA replication, synthesis of RNA primer|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm DNA primase activity|metal ion binding kidney(1)|lung(6)|prostate(1) 8 AAGCTTTGTTGAAGTTCATCA 0.383000 5 223 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140180825 140180825 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr5:140180825C>G ENST00000522353.2 + 1 43 c.43C>G c.(43-45)Ctg>Gtg p.L15V PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.L15V NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGTGCCTGCTGCTTTCTCT 0.512000 7 115 0 0 1 0 0 SCRG1 11341 broad.mit.edu 37 4 174309513 174309513 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:174309513C>T ENST00000296506.2 - 3 758 c.276G>A c.(274-276)gtG>gtA p.V92V NM_007281.2 NP_009212.1 O75711 SCRG1_HUMAN stimulator of chondrogenesis 1 92 nervous system development extracellular space large_intestine(1)|lung(4)|skin(1) 6 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919) TGCAAGGAATCACGAAAGAGA 0.353000 7 107 0 0 1 0 0 TMEM95 339168 broad.mit.edu 37 17 7259784 7259784 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:7259784G>A ENST00000389982.4 + 6 557 c.475G>A c.(475-477)Gag>Aag p.E159K TMEM95_ENST00000576060.1_Silent_p.L161L|TMEM95_ENST00000330767.4_Silent_p.L169L Q3KNT9 TMM95_HUMAN transmembrane protein 95 0 integral to membrane large_intestine(1)|lung(2) 3 Prostate(122;0.173) TGGGTGTTCTGAGCCTCCTGG 0.577000 OREG0024137 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 303 0 0 1 0 0 IFNGR2 3460 broad.mit.edu 37 21 34799243 34799243 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr21:34799243C>T ENST00000290219.6 + 4 1113 c.465C>T c.(463-465)ctC>ctT p.L155L IFNGR2_ENST00000381995.1_Silent_p.L174L|IFNGR2_ENST00000405436.1_Silent_p.L76L NM_005534.3 NP_005525.2 P38484 INGR2_HUMAN interferon gamma receptor 2 (interferon gamma transducer 1) 155 Fibronectin type-III 2. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13 Interferon gamma-1b(DB00033) AAGGCTCCCTCATCATCAGGT 0.443000 15 268 0 0 1 0 0 SMARCE1 6605 broad.mit.edu 37 17 38788614 38788614 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:38788614C>G ENST00000348513.6 - 8 1327 c.547G>C c.(547-549)Gat>Cat p.D183H SMARCE1_ENST00000431889.2_Missense_Mutation_p.D165H|SMARCE1_ENST00000544009.1_Missense_Mutation_p.D113H|SMARCE1_ENST00000580419.1_Missense_Mutation_p.D148H|SMARCE1_ENST00000377808.4_Missense_Mutation_p.D148H|SMARCE1_ENST00000400122.3_Missense_Mutation_p.D113H|SMARCE1_ENST00000578044.1_Missense_Mutation_p.D113H|KRT222_ENST00000476049.1_3'UTR NM_003079.4 NP_003070.3 Q969G3 SMCE1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 183 chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity large_intestine(1) 1 Breast(137;0.000812) AAGCCATCATCATAATCTGGA 0.438000 5 63 0 0 1 0 0 BRCA1 672 broad.mit.edu 37 17 41249303 41249303 + Translation_Start_Site SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:41249303G>C ENST00000309486.4 - 0 690 BRCA1_ENST00000354071.3_Missense_Mutation_p.S184C|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.S184C|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.S184C|BRCA1_ENST00000346315.3_Missense_Mutation_p.S184C|BRCA1_ENST00000491747.2_Missense_Mutation_p.S184C|BRCA1_ENST00000468300.1_Missense_Mutation_p.S184C|BRCA1_ENST00000471181.2_Missense_Mutation_p.S184C|BRCA1_ENST00000493795.1_Missense_Mutation_p.S137C NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) AGAAGAATCAGATCCTAAAAA 0.284000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 7 143 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38138180 38138180 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:38138180C>T ENST00000308059.6 + 15 2313 c.2292C>T c.(2290-2292)atC>atT p.I764I DLEC1_ENST00000452631.2_Silent_p.I764I|DLEC1_ENST00000346219.3_Silent_p.I764I Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 764 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) ATGCCCTCATCATCCCAGGGG 0.498000 13 191 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124257476 124257476 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:124257476C>T ENST00000409039.3 + 4 334 c.309C>T c.(307-309)ctC>ctT p.L103L NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 103 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGTTTTTCCTCAGAAATACCA 0.463000 7 87 0 0 1 0 0 GMPS 8833 broad.mit.edu 37 3 155615828 155615828 + Nonsense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:155615828C>T ENST00000496455.1 + 3 657 c.322C>T c.(322-324)Cag>Tag p.Q108* GMPS_ENST00000295920.7_Intron|GMPS_ENST00000476145.1_3'UTR NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase 108 Glutamine amidotransferase type-1. glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CTATGGTATGCAGGTATGTCA 0.363000 T MLL AML 5 243 0 0 1 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65810634 65810634 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:65810634C>G ENST00000312006.4 - 3 921 c.640G>C c.(640-642)Gag>Cag p.E214Q GAL3ST3_ENST00000527878.1_Missense_Mutation_p.E214Q NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 214 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 GGGCTGCGCTCATTGTCGCCG 0.672000 4 94 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4164326 4164326 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr16:4164326G>C ENST00000294016.3 - 2 1656 c.1118C>G c.(1117-1119)tCt>tGt p.S373C NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 373 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 plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TTGGATGGAAGACTTTTTCTT 0.453000 5 122 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166859020 166859020 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:166859020C>T ENST00000423058.2 - 21 4263 c.4246G>A c.(4246-4248)Gat>Aat p.D1416N SCN1A_ENST00000375405.3_Missense_Mutation_p.D1405N|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.D1416N|SCN1A_ENST00000409050.1_Missense_Mutation_p.D1388N|AC010127.3_ENST00000597623.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1416 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CCTACATTATCAAAGTTTACT 0.308000 4 62 0 0 1 0 0 MAEA 10296 broad.mit.edu 37 4 1316234 1316234 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:1316234G>C ENST00000303400.4 + 4 585 c.522G>C c.(520-522)gaG>gaC p.E174D MAEA_ENST00000452175.2_Missense_Mutation_p.E95D|MAEA_ENST00000505177.2_Missense_Mutation_p.E174D|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000510794.1_Missense_Mutation_p.E173D|MAEA_ENST00000264750.6_Intron|MAEA_ENST00000505839.1_Missense_Mutation_p.E126D NM_001017405.1 NP_001017405.1 Q7L5Y9 MAEA_HUMAN macrophage erythroblast attacher 174 CTLH. cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle actin binding NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(23;0.0201) AGAGGCGTGAGACGGCCACCT 0.597000 4 95 0 0 1 0 0 PLK4 10733 broad.mit.edu 37 4 128806873 128806873 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:128806873C>T ENST00000270861.5 + 5 622 c.348C>T c.(346-348)ttC>ttT p.F116F PLK4_ENST00000514379.1_Silent_p.F75F|PLK4_ENST00000515069.1_Silent_p.F116F|PLK4_ENST00000513090.1_Silent_p.F84F|PLK4_ENST00000507249.1_Silent_p.F116F NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 116 Protein kinase. G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 CTCGACACTTCATGCACCAGA 0.368000 13 173 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205027780 205027780 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:205027780C>T ENST00000331830.4 + 5 760 c.476C>T c.(475-477)gCc>gTc p.A159V NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 159 Ig-like C2-type 2. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AACCCACCTGCCCACTACCCA 0.577000 3 24 0 0 1 0 0 ARHGAP12 94134 broad.mit.edu 37 10 32128591 32128591 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr10:32128591G>A ENST00000311380.4 - 5 1222 c.1204C>T c.(1204-1206)Ccc>Tcc p.P402S ARHGAP12_ENST00000375250.5_Intron|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.P402S|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.P449S|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.P449S NM_001270697.1|NM_001270699.1 NP_001257626.1|NP_001257628.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 449 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) GGTGAGGAGGGAGAAGACTCA 0.308000 5 52 0 0 1 0 0 GPR37 2861 broad.mit.edu 37 7 124387288 124387288 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:124387288G>A ENST00000303921.2 - 2 1783 c.1133C>T c.(1132-1134)tCa>tTa p.S378L NM_005302.2 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 378 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GGCAGTTGTTGAGGAACAGTT 0.483000 6 77 0 0 1 0 0 ENPP3 5169 broad.mit.edu 37 6 132068003 132068003 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:132068003C>T ENST00000414305.1 + 26 2863 c.2535C>T c.(2533-2535)ctC>ctT p.L845L ENPP3_ENST00000357639.3_Silent_p.L845L|ENPP3_ENST00000358229.5_3'UTR O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 845 Nuclease. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) TAGAACTTCTCACTGGGCTTG 0.388000 10 164 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98522761 98522761 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:98522761G>A ENST00000359863.4 + 22 3059 c.2850G>A c.(2848-2850)ctG>ctA p.L950L TRRAP_ENST00000446306.3_Silent_p.L949L|TRRAP_ENST00000355540.3_Silent_p.L950L NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 950 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGGACTGCCTGAAAAGCGCCA 0.488000 7 51 0 0 1 0 0 DCLK1 9201 broad.mit.edu 37 13 36700207 36700207 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr13:36700207C>T ENST00000255448.4 - 2 279 c.68G>A c.(67-69)cGa>cAa p.R23Q DCLK1_ENST00000379892.4_Missense_Mutation_p.R23Q|DCLK1_ENST00000360631.3_Missense_Mutation_p.R23Q NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 23 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) CCGCGACCCTCGGCTGTATCT 0.637000 10 133 0 0 1 0 0 CKAP4 10970 broad.mit.edu 37 12 106633715 106633715 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:106633715G>A ENST00000378026.4 - 2 1032 c.896C>T c.(895-897)tCa>tTa p.S299L CKAP4_ENST00000552828.1_5'UTR NM_006825.3 NP_006816.2 Q07065 CKAP4_HUMAN cytoskeleton-associated protein 4 299 ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1) 20 GGACTTGGCTGAGGTCTGTAT 0.517000 5 161 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101190204 101190204 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:101190204C>T ENST00000294728.2 + 4 787 c.686C>T c.(685-687)tCt>tTt p.S229F VCAM1_ENST00000347652.2_Missense_Mutation_p.S229F|VCAM1_ENST00000370115.1_Missense_Mutation_p.S229F|VCAM1_ENST00000370119.4_Missense_Mutation_p.S167F NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 229 Ig-like C2-type 3. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) ACAGTTATTTCTGTGAATCCA 0.413000 10 143 0 0 1 0 0 BCL2L12 83596 broad.mit.edu 37 19 50169080 50169080 + Translation_Start_Site SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:50169080G>A ENST00000246785.3 + 0 258 BCL2L12_ENST00000441864.2_De_novo_Start_InFrame|IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000597198.1_5'UTR|BCL2L12_ENST00000246784.3_Intron|IRF3_ENST00000377139.3_5'UTR NM_001040668.1|NM_138639.1 NP_001035758.1|NP_619580.1 Q9HB09 B2L12_HUMAN BCL2-like 12 (proline rich) apoptosis central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 8 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) CCCAAAAGCCGATGGGACGGC 0.532000 4 83 0 0 1 0 0 POLR2J 5439 broad.mit.edu 37 7 102119287 102119287 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:102119287G>C ENST00000292614.5 - 1 67 c.21C>G c.(19-21)ttC>ttG p.F7L POLR2J_ENST00000393794.3_Missense_Mutation_p.F7L NM_006234.4 NP_006225.1 P52435 RPB11_HUMAN polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa 7 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|LRR domain binding|protein dimerization activity pancreas(2) 2 AGAACGACTCGAAGGCTGGAG 0.677000 OREG0018232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 44 0 0 1 0 0 AAR2 25980 broad.mit.edu 37 20 34843614 34843614 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr20:34843614G>C ENST00000373932.3 + 4 1448 c.1102G>C c.(1102-1104)Gag>Cag p.E368Q AAR2_ENST00000320849.4_Missense_Mutation_p.E368Q|AAR2_ENST00000397286.3_Intron NM_015511.3 NP_056326.2 AAR2 splicing factor homolog (S. cerevisiae) TGCGGAACCTGAGGACTGTGC 0.617000 4 81 0 0 1 0 0 NUDCD3 23386 broad.mit.edu 37 7 44524878 44524878 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:44524878G>A ENST00000355451.6 - 2 477 c.198C>T c.(196-198)ttC>ttT p.F66F NM_015332.3 NP_056147.2 Q8IVD9 NUDC3_HUMAN NudC domain containing 3 66 endometrium(2)|large_intestine(1)|lung(3)|skin(1) 7 CAAAGGTTTTGAATACCTAAA 0.418000 7 78 0 0 1 0 0 RMI1 80010 broad.mit.edu 37 9 86617353 86617353 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr9:86617353G>A ENST00000325875.3 + 3 1784 c.1452G>A c.(1450-1452)atG>atA p.M484I NM_024945.2 NP_079221.2 Q9H9A7 RMI1_HUMAN RecQ mediated genome instability 1 484 DNA replication nucleus biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 CTATTGCCATGGATTTGTATT 0.318000 5 150 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179475984 179475984 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:179475984C>G ENST00000589042.1 - 270 51096 c.50872G>C c.(50872-50874)Gac>Cac p.D16958H TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D15317H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7893H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D8085H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D8018H|TTN_ENST00000342992.6_Missense_Mutation_p.D14390H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15317 Fibronectin type-III 23. 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) GTCTCCAGGTCAATTGTTGGC 0.353000 5 36 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 9 100 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179401824 179401824 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:179401824C>T ENST00000589042.1 - 356 100236 c.100012G>A c.(100012-100014)Gaa>Aaa p.E33338K TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E31697K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24273K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E24465K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E24398K|TTN_ENST00000342992.6_Missense_Mutation_p.E30770K|TTN-AS1_ENST00000585487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31697 Ig-like 146. 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) AATTGCCATTCAGCCCCCTCC 0.507000 7 55 0 0 1 0 0 ZNF420 147923 broad.mit.edu 37 19 37619055 37619055 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:37619055G>A ENST00000337995.3 + 5 1377 c.1162G>A c.(1162-1164)Gaa>Aaa p.E388K ZNF420_ENST00000304239.7_Missense_Mutation_p.E388K|ZNF585A_ENST00000588723.1_Intron NM_144689.3 NP_653290.2 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCACACCAATGAAAAGCCCTA 0.408000 7 116 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10025043 10025043 + Splice_Site SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr20:10025043C>T ENST00000378380.3 + 4 877 c.546_splice c.e4-1 p.S183_splice SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Splice_Site_p.S183_splice|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 CATGTCCAGTCCACAGGCCGC 0.413000 6 105 0 0 1 0 0 SKI 6497 broad.mit.edu 37 1 2234792 2234792 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:2234792G>A ENST00000378536.4 + 3 1236 c.1164G>A c.(1162-1164)gcG>gcA p.A388A SKI_ENST00000478223.2_3'UTR NM_003036.3 NP_003027.1 P12755 SKI_HUMAN v-ski avian sarcoma viral oncogene homolog 388 anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|PML body|transcription factor complex|transcriptional repressor complex histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1) 10 all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207) CAGTGTCAGCGAGTGAGAAAG 0.622000 10 199 0 0 1 0 0 TTK 7272 broad.mit.edu 37 6 80718147 80718147 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:80718147G>C ENST00000509894.1 + 4 1236 c.407G>C c.(406-408)aGa>aCa p.R136T TTK_ENST00000369798.2_Missense_Mutation_p.R136T|TTK_ENST00000230510.3_Missense_Mutation_p.R136T P33981 TTK_HUMAN TTK protein kinase 136 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) CAAATGGCCAGAGCAAACTGC 0.303000 9 190 0 0 1 0 0 SERPINA6 866 broad.mit.edu 37 14 94780855 94780855 + Missense_Mutation SNP A A G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr14:94780855A>G ENST00000341584.3 - 2 277 c.131T>C c.(130-132)gTt>gCt p.V44A NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 44 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) GGCAAAGTCAACGTTGGCTGA 0.542000 18 111 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40841605 40841605 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr5:40841605G>A ENST00000254691.5 + 1 320 c.121G>A c.(121-123)Gag>Aag p.E41K CARD6_ENST00000381677.3_Missense_Mutation_p.E41K NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 41 CARD. apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 GCTGATTTCTGAGGAAGAGTA 0.408000 5 91 0 0 1 0 0 CYP27B1 1594 broad.mit.edu 37 12 58160754 58160754 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:58160754G>C ENST00000228606.4 - 1 280 c.71C>G c.(70-72)tCc>tGc p.S24C RP11-571M6.13_ENST00000546609.1_RNA NM_000785.3 NP_000776.1 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, polypeptide 1 24 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) GTAGCCTAGGGAGGCGCCCAA 0.632000 12 204 0 0 1 0 0 CAPS2 84698 broad.mit.edu 37 12 75693620 75693620 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:75693620G>A ENST00000393284.3 - 9 813 c.212C>T c.(211-213)tCa>tTa p.S71L CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409799.1_Missense_Mutation_p.S253L|CAPS2_ENST00000409445.3_Missense_Mutation_p.S303L Q9BXY5 CAYP2_HUMAN calcyphosine 2 303 calcium ion binding endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 10 CAATTACCGTGATACGATCCT 0.264000 6 189 0 0 1 0 0 HAVCR2 84868 broad.mit.edu 37 5 156533768 156533768 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr5:156533768G>A ENST00000307851.4 - 2 994 c.264C>T c.(262-264)ttC>ttT p.F88F CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Silent_p.F88F|HAVCR2_ENST00000517358.1_5'UTR NM_032782.4 NP_116171.3 Q8TDQ0 HAVR2_HUMAN hepatitis A virus cellular receptor 2 88 Ig-like V-type. 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) CTCCTTTGCGGAAATCCCCAT 0.473000 13 132 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10428364 10428364 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:10428364C>T ENST00000245503.5 - 34 5065 c.4681G>A c.(4681-4683)Gag>Aag p.E1561K CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1561K|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1561 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 ATCTTTCCCTCTTCATGTTCA 0.408000 15 215 0 0 1 0 0 ADNP2 22850 broad.mit.edu 37 18 77895633 77895633 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr18:77895633C>T ENST00000262198.4 + 4 2792 c.2337C>T c.(2335-2337)ttC>ttT p.F779F NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 779 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CATGCACCTTCCATGATATCA 0.473000 11 150 0 0 1 0 0 PFKM 5213 broad.mit.edu 37 12 48535527 48535527 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:48535527C>T ENST00000340802.6 + 18 1854 c.1630C>T c.(1630-1632)Cta>Tta p.L544L PFKM_ENST00000551804.1_Silent_p.L442L|PFKM_ENST00000547587.1_Silent_p.L473L|PFKM_ENST00000395233.2_Silent_p.L442L|PFKM_ENST00000359794.5_Silent_p.L473L|PFKM_ENST00000312352.7_Silent_p.L473L NM_001166686.1 NP_001160158.1 P08237 K6PF_HUMAN phosphofructokinase, muscle 473 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 AACTAGGACTCTACCCAAGAA 0.483000 12 185 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114196526 114196526 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:114196526G>C ENST00000369615.1 + 15 2577 c.2515G>C c.(2515-2517)Gag>Cag p.E839Q MAGI3_ENST00000369611.4_Missense_Mutation_p.E839Q|MAGI3_ENST00000307546.9_Missense_Mutation_p.E839Q|MAGI3_ENST00000369617.4_Missense_Mutation_p.E864Q NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 864 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) GAACCGGGCAGAGGTCCCAGC 0.483000 20 310 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 5 28 0 0 1 0 0 SIRT5 23408 broad.mit.edu 37 6 13584426 13584426 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:13584426G>C ENST00000606117.1 + 3 380 c.84G>C c.(82-84)caG>caC p.Q28H SIRT5_ENST00000379262.4_Missense_Mutation_p.Q28H|SIRT5_ENST00000359782.3_Missense_Mutation_p.Q28H|SIRT5_ENST00000397350.2_5'UTR NM_012241.4 NP_036373.1 Q9NXA8 SIRT5_HUMAN sirtuin 5 28 chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial intermembrane space|mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 11 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.176) Suramin(DB04786) CACGAAACCAGATTTGCCTGA 0.483000 6 89 0 0 1 0 0 GRIP1 23426 broad.mit.edu 37 12 66773095 66773095 + Silent SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:66773095C>G ENST00000359742.4 - 20 2826 c.2586G>C c.(2584-2586)ctG>ctC p.L862L GRIP1_ENST00000286445.7_Silent_p.L862L|GRIP1_ENST00000398016.3_Silent_p.L810L Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 862 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CTTCATAACTCAGCCCCACAT 0.502000 8 231 0 0 1 0 0 GALC 2581 broad.mit.edu 37 14 88429749 88429749 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr14:88429749G>A ENST00000261304.2 - 10 1246 c.1140C>T c.(1138-1140)ctC>ctT p.L380L GALC_ENST00000393569.2_Silent_p.L354L|GALC_ENST00000393568.4_Silent_p.L357L|GALC_ENST00000544807.2_Silent_p.L324L NM_000153.3|NM_001201401.1 NP_000144.2|NP_001188330.1 P54803 GALC_HUMAN galactosylceramidase 380 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TGATGATGGTGAGGTTCCCTA 0.378000 5 100 0 0 1 0 0 SMYD2 56950 broad.mit.edu 37 1 214488132 214488132 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:214488132G>A ENST00000366957.5 + 3 287 c.265G>A c.(265-267)Gaa>Aaa p.E89K SMYD2_ENST00000415093.2_Missense_Mutation_p.E89K|SMYD2_ENST00000491455.1_3'UTR NM_020197.2 NP_064582.2 Q9NRG4 SMYD2_HUMAN SET and MYND domain containing 2 89 negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent cytosol|nucleus histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144) GCACAAGCTGGAATGTTCTCC 0.423000 4 105 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48502084 48502084 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:48502084C>G ENST00000358350.4 - 63 9350 c.8746G>C c.(8746-8748)Gaa>Caa p.E2916Q FRYL_ENST00000507873.2_Missense_Mutation_p.E306Q|FRYL_ENST00000264319.7_Missense_Mutation_p.E306Q|FRYL_ENST00000537810.1_Missense_Mutation_p.E2916Q|FRYL_ENST00000503238.1_Missense_Mutation_p.E2916Q NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 2916 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding p.E2916*(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 GATATAAATTCTTTATTTTTC 0.343000 4 69 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1262490 1262490 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:1262490C>T ENST00000446702.2 + 3 802 c.175C>T c.(175-177)Cat>Tat p.H59Y CNTN6_ENST00000350110.2_Missense_Mutation_p.H59Y|CNTN6_ENST00000539053.1_5'UTR Q9UQ52 CNTN6_HUMAN contactin 6 59 Ig-like C2-type 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CCCTTCGCCTCATTATAGGTA 0.363000 8 129 0 0 1 0 0 RBAK 57786 broad.mit.edu 37 7 5104496 5104496 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:5104496C>T ENST00000396912.1 + 5 1928 c.1409C>T c.(1408-1410)tCa>tTa p.S470L RBAK_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.S470L|RBAK_ENST00000396904.2_Intron NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 470 Interaction with AR. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) AATTTAAATTCAGCCTTCATT 0.368000 8 101 0 0 1 0 0 MMP27 64066 broad.mit.edu 37 11 102564686 102564686 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:102564686C>T ENST00000260229.4 - 8 1235 c.1144G>A c.(1144-1146)Gat>Aat p.D382N NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 382 Hemopexin-like 3. 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) GTGGTCTTATCACAGACGGCT 0.393000 13 158 0 0 1 0 0 RNF168 165918 broad.mit.edu 37 3 196210708 196210708 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:196210708C>T ENST00000318037.3 - 4 1207 c.613G>A c.(613-615)Gat>Aat p.D205N NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 205 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) GTAACTGGATCAGATTTTCTG 0.348000 6 213 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9009320 9009320 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:9009320G>C ENST00000397910.4 - 40 39356 c.39153C>G c.(39151-39153)ttC>ttG p.F13051L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13053 SEA 7. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGAGTTCTTGAACAAGGGAC 0.532000 10 115 0 0 1 0 0 CHUK 1147 broad.mit.edu 37 10 101969423 101969423 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr10:101969423C>T ENST00000370397.7 - 10 1143 c.1057G>A c.(1057-1059)Gaa>Aaa p.E353K NM_001278.3 NP_001269.3 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase 353 I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|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 CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 27 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) GAAAGAAGTTCTTGAGAACCA 0.368000 5 83 0 0 1 0 0 STAG3L4 64940 broad.mit.edu 37 7 66771028 66771028 + RNA SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:66771028C>T ENST00000416602.2 + 0 320 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) TGCAGGATTTCTGGAGCTTGT 0.393000 5 193 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3424646 3424646 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:3424646C>G ENST00000336727.3 + 12 3952 c.3048C>G c.(3046-3048)caC>caG p.H1016Q RGS12_ENST00000306648.7_Missense_Mutation_p.H414Q|RGS12_ENST00000538395.1_Missense_Mutation_p.H358Q|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.H1016Q|RGS12_ENST00000344733.5_Missense_Mutation_p.H1016Q|RGS12_ENST00000338806.4_Missense_Mutation_p.H368Q NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1016 RBD 1. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGGTGCTGCACCAAGACAGTA 0.582000 9 109 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156589669 156589669 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr5:156589669G>C ENST00000302938.4 - 2 1702 c.1607C>G c.(1606-1608)tCt>tGt p.S536C NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 536 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCTTAAAAAAGAGCTGATCTT 0.463000 4 93 0 0 1 0 0 HERPUD1 9709 broad.mit.edu 37 16 56973985 56973985 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr16:56973985C>T ENST00000439977.2 + 6 930 c.733C>T c.(733-735)Cgg>Tgg p.R245W HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000300302.5_Missense_Mutation_p.R244W|HERPUD1_ENST00000379792.2_Missense_Mutation_p.R220W NM_001010989.1|NM_014685.2 NP_001010989.1|NP_055500.1 Q15011 HERP1_HUMAN homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 245 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 11 TCAAAATTTGCGGATGAATGC 0.438000 T ERG prostate 4 107 0 0 1 0 0 STK17B 9262 broad.mit.edu 37 2 197008314 197008314 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:197008314G>A ENST00000263955.4 - 5 863 c.577C>T c.(577-579)Cgg>Tgg p.R193W STK17B_ENST00000409228.1_Missense_Mutation_p.R193W NM_004226.3 NP_004217.1 O94768 ST17B_HUMAN serine/threonine kinase 17b 193 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10) 15 OV - Ovarian serous cystadenocarcinoma(117;0.141) ATGATTTCCCGAAGTTCACAC 0.338000 7 121 0 0 1 0 0 OLFML2A 169611 broad.mit.edu 37 9 127549484 127549484 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr9:127549484G>A ENST00000373580.3 + 2 321 c.321G>A c.(319-321)gaG>gaA p.E107E NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A 107 endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 GGAAGATGGAGAAACTCAAAA 0.587000 5 49 0 0 1 0 0 KIAA1432 57589 broad.mit.edu 37 9 5763450 5763450 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr9:5763450G>A ENST00000414202.2 + 19 2614 c.2423G>A c.(2422-2424)aGa>aAa p.R808K KIAA1432_ENST00000418622.3_Missense_Mutation_p.R729K|KIAA1432_ENST00000251879.6_Missense_Mutation_p.R808K|KIAA1432_ENST00000449720.2_Missense_Mutation_p.R692K|KIAA1432_ENST00000381532.2_Missense_Mutation_p.R729K NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 808 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) AACAATGCTAGAGAACAGCTG 0.448000 15 189 0 0 1 0 0 IRX6 79190 broad.mit.edu 37 16 55359008 55359008 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr16:55359008C>G ENST00000290552.7 + 1 1337 c.5C>G c.(4-6)tCc>tGc p.S2C RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 2 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 GCCACCATGTCCTTCCCACAC 0.627000 4 42 0 0 1 0 0 WDR45 11152 broad.mit.edu 37 X 48934116 48934116 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chrX:48934116C>G ENST00000356463.3 - 7 850 c.412G>C c.(412-414)Gag>Cag p.E138Q WDR45_ENST00000322995.8_Missense_Mutation_p.E137Q|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000396681.4_Missense_Mutation_p.E137Q|WDR45_ENST00000376358.3_Intron|WDR45_ENST00000376368.2_Missense_Mutation_p.E138Q|WDR45_ENST00000376372.3_Missense_Mutation_p.E137Q|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000485908.1_Missense_Mutation_p.E102Q|WDR45_ENST00000473974.1_Missense_Mutation_p.E137Q NM_007075.3 NP_009006.2 Q9Y484 WIPI4_HUMAN WD repeat domain 45 137 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 19 GTATCAAACTCAAACAGCTTT 0.537000 7 87 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182836128 182836128 + Nonsense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:182836128C>T ENST00000367549.3 + 14 1617 c.1507C>T c.(1507-1509)Cga>Tga p.R503* NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 503 Helicase ATP-binding. 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 AGCAGGCATTCGAGGAATCAG 0.308000 6 156 0 0 1 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73437692 73437692 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr14:73437692G>A ENST00000556143.1 - 12 2952 c.2232C>T c.(2230-2232)ttC>ttT p.F744F ZFYVE1_ENST00000394207.2_Silent_p.F329F|ZFYVE1_ENST00000553891.1_Silent_p.F744F|ZFYVE1_ENST00000318876.5_Silent_p.F730F|ZFYVE1_ENST00000555072.1_Silent_p.F329F NM_021260.2 NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 744 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) ACTCATCACAGAAGCCCTGTC 0.592000 11 94 0 0 1 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17139073 17139073 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:17139073C>G ENST00000265970.7 - 18 3180 c.3181G>C c.(3181-3183)Gaa>Caa p.E1061Q PIK3C2A_ENST00000540361.1_Missense_Mutation_p.E681Q|PIK3C2A_ENST00000531428.1_Intron NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 1061 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) CTTACTTTTTCTGCTACTCCT 0.408000 7 156 0 0 1 0 0 TLR2 7097 broad.mit.edu 37 4 154626061 154626061 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:154626061C>G ENST00000260010.6 + 1 3410 c.2002C>G c.(2002-2004)Ccc>Gcc p.P668A NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 668 TIR. cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) GAACTTCAATCCCCCCTTCAA 0.463000 4 139 0 0 1 0 0 RFWD2 64326 broad.mit.edu 37 1 176012350 176012350 + Silent SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:176012350G>C ENST00000367669.3 - 14 2098 c.1584C>G c.(1582-1584)ctC>ctG p.L528L RFWD2_ENST00000308769.8_Silent_p.L504L NM_022457.5 NP_071902.2 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2, E3 ubiquitin protein ligase 528 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 CTGAAGCCAAGAGTTTAGGAT 0.438000 5 172 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198260841 198260841 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:198260841C>T ENST00000335508.5 - 23 3569 c.3478G>A c.(3478-3480)Gaa>Aaa p.E1160K NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 1160 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TTTCCCATTTCACCAATATAT 0.333000 Mis myelodysplastic syndrome 12 155 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182856289 182856289 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:182856289C>G ENST00000367549.3 + 28 3643 c.3533C>G c.(3532-3534)tCt>tGt p.S1178C DHX9_ENST00000485081.1_3'UTR NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 1178 NTD. 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 p.S1178F(1) 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 AGGGGAGGTTCTAGTTACAGT 0.532000 6 131 0 0 1 0 0 ZNF441 126068 broad.mit.edu 37 19 11891591 11891591 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:11891591C>T ENST00000357901.4 + 4 1054 c.952C>T c.(952-954)Ctt>Ttt p.L318F ZNF441_ENST00000454339.2_Missense_Mutation_p.L251F NM_152355.2 NP_689568.2 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AAAAGGCTTTCTTTCTCCCAG 0.398000 6 169 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121647331 121647331 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:121647331G>A ENST00000489711.1 + 15 1658 c.1270G>A c.(1270-1272)Gat>Aat p.D424N SLC15A2_ENST00000295605.2_Missense_Mutation_p.D393N|SLC15A2_ENST00000465060.1_3'UTR NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 424 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) TCTGGCAGATGATGAGGTGAA 0.448000 13 178 0 0 1 0 0 IL17RA 23765 broad.mit.edu 37 22 17589873 17589873 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr22:17589873G>A ENST00000319363.6 + 13 1897 c.1764G>A c.(1762-1764)gaG>gaA p.E588E NM_014339.5 NP_055154.3 Q96F46 I17RA_HUMAN interleukin 17 receptor A 588 fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) TCGAATGTGAGAACCTCTACT 0.667000 4 22 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57327616 57327616 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:57327616G>C ENST00000326441.9 - 10 2557 c.2194C>G c.(2194-2196)Cag>Gag p.Q732E PEG3_ENST00000423103.2_Missense_Mutation_p.Q732E|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Q606E|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q608E NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 732 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TGACTCTTCTGAGATTCAGTG 0.418000 9 164 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41559121 41559121 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr8:41559121C>G ENST00000396942.1 - 22 2491 c.2408G>C c.(2407-2409)cGa>cCa p.R803P ANK1_ENST00000379758.2_Missense_Mutation_p.R803P|ANK1_ENST00000347528.4_Missense_Mutation_p.R803P|ANK1_ENST00000396945.1_Missense_Mutation_p.R803P|ANK1_ENST00000265709.8_Missense_Mutation_p.R836P|ANK1_ENST00000289734.7_Missense_Mutation_p.R803P|ANK1_ENST00000352337.4_Missense_Mutation_p.R803P P16157 ANK1_HUMAN ankyrin 1, erythrocytic 803 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.R803Q(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GAAACTCATTCGATGCTTATC 0.488000 OREG0018740 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 83 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72057343 72057343 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:72057343C>T ENST00000378743.3 - 1 406 c.48G>A c.(46-48)ccG>ccA p.P16P ZFC3H1_ENST00000548100.1_Silent_p.P16P|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Silent_p.P16P NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 16 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CTTCTTCCTTCGGCGAGAGGC 0.647000 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 189 0 0 1 0 0 DLL3 10683 broad.mit.edu 37 19 39998560 39998560 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:39998560G>A ENST00000205143.4 + 8 1771 c.1764G>A c.(1762-1764)gcG>gcA p.A588A DLL3_ENST00000356433.5_Intron NM_016941.3 NP_058637.1 Q9NYJ7 DLL3_HUMAN delta-like 3 (Drosophila) 588 Notch signaling pathway|skeletal system development integral to membrane Notch binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7) 19 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGGAGGTAGCGACGCCCCTTT 0.562000 4 53 0 0 1 0 0 SDAD1P1 157489 broad.mit.edu 37 8 26237440 26237440 + RNA SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr8:26237440C>T ENST00000519902.1 - 0 2508 CATTCGCCATCGGCATCCTCC 0.473000 5 125 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121881866 121881866 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:121881866C>T ENST00000377069.4 - 16 2713 c.2307G>A c.(2305-2307)ctG>ctA p.L769L KDM2B_ENST00000542973.1_Silent_p.L168L|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Silent_p.L800L NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 800 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 GCTTCTTCCTCAGGTGCACGT 0.647000 OREG0022201 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 106 0 0 1 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92647588 92647588 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr15:92647588C>T ENST00000318445.6 + 4 1039 c.825C>T c.(823-825)ctC>ctT p.L275L SLCO3A1_ENST00000424469.2_Silent_p.L275L|SLCO3A1_ENST00000555549.1_3'UTR NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 275 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) GTGCCTTACTCTTCTTCTCTT 0.577000 6 132 0 0 1 0 0 PITRM1 10531 broad.mit.edu 37 10 3180435 3180435 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr10:3180435C>T ENST00000380989.2 - 26 3053 c.3015G>A c.(3013-3015)gtG>gtA p.V1005V PITRM1_ENST00000380994.1_Silent_p.V562V|PITRM1_ENST00000451104.2_Silent_p.V906V|PITRM1_ENST00000224949.4_Silent_p.V1004V|PITRM1_ENST00000464395.1_5'UTR NM_001242307.1|NM_014889.3 NP_001229236.1|NP_055704.2 E7ES23 E7ES23_HUMAN pitrilysin metallopeptidase 1 906 proteolysis metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3) 33 ACCTATCGCTCACGGCCAGGA 0.592000 4 47 0 0 1 0 0 HIST1H2BJ 8970 broad.mit.edu 37 6 27100308 27100308 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:27100308G>C ENST00000607124.1 - 1 221 c.222C>G c.(220-222)atC>atG p.I74M HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.I74M|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.I74M P06899 H2B1J_HUMAN histone cluster 1, H2bj 74 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1) 10 CCTCACCTGCGATGCGCTCGA 0.582000 5 196 0 0 1 0 0 MMP8 4317 broad.mit.edu 37 11 102592156 102592156 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:102592156C>T ENST00000236826.3 - 4 696 c.598G>A c.(598-600)Gaa>Aaa p.E200K NM_002424.2 NP_002415.1 P22894 MMP8_HUMAN matrix metallopeptidase 8 (neutrophil collagenase) 200 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1) 32 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) GTCCATGTTTCTTCGGCATCA 0.433000 6 111 0 0 1 0 0 CUL1 8454 broad.mit.edu 37 7 148457442 148457442 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:148457442G>A ENST00000325222.4 + 7 922 c.643G>A c.(643-645)Gaa>Aaa p.E215K CUL1_ENST00000409469.1_Missense_Mutation_p.E215K|CUL1_ENST00000602748.1_Missense_Mutation_p.E215K NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 215 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) GGGGCTGAATGAAGATGATGC 0.348000 27 111 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160085351 160085351 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:160085351G>C ENST00000263635.6 + 26 4332 c.4095G>C c.(4093-4095)ttG>ttC p.L1365F TANC1_ENST00000454300.1_Missense_Mutation_p.L1259F NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1365 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 CTCTCGAATTGAAGCCCAAGT 0.468000 17 249 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120976074 120976074 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:120976074C>T ENST00000273666.6 + 17 1997 c.1726C>T c.(1726-1728)Ccg>Tcg p.P576S STXBP5L_ENST00000472879.1_Missense_Mutation_p.P576S|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P576S|STXBP5L_ENST00000471454.1_Missense_Mutation_p.P576S|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P576S NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 576 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AACAAGTCCTCCGTTTCCAGA 0.388000 7 195 0 0 1 0 0 NABP2 79035 broad.mit.edu 37 12 56619246 56619246 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:56619246G>A ENST00000380198.2 + 2 667 c.169G>A c.(169-171)Gat>Aat p.D57N NABP2_ENST00000341463.5_Missense_Mutation_p.D57N|NABP2_ENST00000267023.4_Missense_Mutation_p.D57N nucleic acid binding protein 2 TGTCTGGGACGATGTTGGCAA 0.527000 8 121 0 0 1 0 0 KRT9 3857 broad.mit.edu 37 17 39724518 39724518 + Silent SNP G G A rs145501803 byFrequency TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:39724518G>A ENST00000246662.4 - 6 1355 c.1290C>T c.(1288-1290)atC>atT p.I430I KRT9_ENST00000588431.1_Silent_p.I197I NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 430 Coil 2.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) TCTGGCACTCGATCTCTTGCC 0.542000 5 91 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91682117 91682117 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:91682117G>C ENST00000359028.2 + 23 5707 c.5482G>C c.(5482-5484)Gag>Cag p.E1828Q AKAP9_ENST00000358100.2_Missense_Mutation_p.E1828Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E1816Q Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1828 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAAAGTAACTGAGGAAGGAAC 0.393000 T BRAF papillary thyroid 4 65 0 0 1 0 0 SPATA22 84690 broad.mit.edu 37 17 3346491 3346491 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:3346491G>C ENST00000573128.1 - 8 1360 c.877C>G c.(877-879)Ctg>Gtg p.L293V SPATA22_ENST00000575375.1_Missense_Mutation_p.L293V|SPATA22_ENST00000572969.1_Missense_Mutation_p.L293V|SPATA22_ENST00000397168.3_Missense_Mutation_p.L293V|SPATA22_ENST00000268981.5_Intron|SPATA22_ENST00000355380.4_Missense_Mutation_p.L250V|SPATA22_ENST00000541913.1_Missense_Mutation_p.L277V Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 293 breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2) 19 ACACAAGGCAGAGTATTTTTC 0.358000 6 57 0 0 1 0 0 CD2BP2 10421 broad.mit.edu 37 16 30364372 30364372 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr16:30364372C>T ENST00000305596.3 - 7 1135 c.960G>A c.(958-960)cgG>cgA p.R320R CD2BP2_ENST00000569466.1_Silent_p.R320R NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 320 GYF. assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 GGTCCAGCTTCCGGCAATAAA 0.587000 4 51 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23886407 23886407 + Nonsense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:23886407G>A ENST00000264867.2 - 2 321 c.202C>T c.(202-204)Cag>Tag p.Q68* PPARGC1A_ENST00000507380.1_Nonsense_Mutation_p.Q68* NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 68 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) TTGTTGTACTGATTGGATATT 0.393000 6 91 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87072740 87072740 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:87072740C>T ENST00000265723.4 - 12 1362 c.1251G>A c.(1249-1251)ctG>ctA p.L417L ABCB4_ENST00000358400.3_Silent_p.L417L|ABCB4_ENST00000359206.3_Silent_p.L417L|ABCB4_ENST00000545634.1_Silent_p.L417L|ABCB4_ENST00000453593.1_Silent_p.L417L NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 417 ABC transporter 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TCTGCACCTTCAGGTTGAGGC 0.473000 9 157 0 0 1 0 0 JAK1 3716 broad.mit.edu 37 1 65349056 65349056 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:65349056C>T ENST00000342505.4 - 3 357 c.109G>A c.(109-111)Gaa>Aaa p.E37K NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 37 FERM. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) AAGATCACTTCCACCCCTGGC 0.547000 Mis ALL 8 79 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48578166 48578166 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:48578166G>A ENST00000358350.4 - 24 3206 c.2602C>T c.(2602-2604)Ctg>Ttg p.L868L FRYL_ENST00000507711.1_Silent_p.L868L|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Silent_p.L868L|FRYL_ENST00000503238.1_Silent_p.L868L NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 868 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 CAAAGGATCAGATAGTTTCTC 0.463000 8 94 0 0 1 0 0 BEND5 79656 broad.mit.edu 37 1 49193586 49193586 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:49193586C>T ENST00000371833.3 - 6 1324 c.1238G>A c.(1237-1239)cGa>cAa p.R413Q BEND5_ENST00000476096.1_5'UTR|AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron NM_024603.2 NP_078879.2 Q7L4P6 BEND5_HUMAN BEN domain containing 5 413 large_intestine(5)|lung(2)|skin(1) 8 TGCTTCCCTTCGTTCTTCATT 0.373000 6 84 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9052003 9052003 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr5:9052003C>G ENST00000382496.5 - 20 3492 c.2827G>C c.(2827-2829)Gac>Cac p.D943H NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 943 TSP type-1 7. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 AAATTAGAGTCAAACACACAC 0.502000 4 76 0 0 1 0 0 ADRA1D 146 broad.mit.edu 37 20 4202277 4202277 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr20:4202277C>T ENST00000379453.4 - 2 1728 c.1612G>A c.(1612-1614)Gag>Aag p.E538K NM_000678.3 NP_000669.1 P25100 ADA1D_HUMAN adrenoceptor alpha 1D 538 KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 14 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) GCCTCCACCTCTGAGCGCTGG 0.697000 4 68 0 0 1 0 0 SLC25A10 1468 broad.mit.edu 37 17 79674211 79674211 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:79674211G>A ENST00000571730.1 + 5 669 c.538G>A c.(538-540)Gag>Aag p.E180K SLC25A10_ENST00000541223.1_Missense_Mutation_p.E180K|MRPL12_ENST00000333676.3_Missense_Mutation_p.E180K Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 0 gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 14 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) CGCCAAAGCTGAGGCGGAGAA 0.642000 6 114 0 0 1 0 0 AMBRA1 55626 broad.mit.edu 37 11 46568686 46568686 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:46568686C>T ENST00000458649.2 - 4 773 c.355G>A c.(355-357)Gag>Aag p.E119K AMBRA1_ENST00000314845.3_Missense_Mutation_p.E119K|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E119K|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E119K|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E119K|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E119K|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E119K Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 119 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) ATCCTAACCTCCCCATCTAGG 0.448000 8 140 0 0 1 0 0 SAYSD1 55776 broad.mit.edu 37 6 39073331 39073331 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:39073331C>G ENST00000229903.4 - 2 528 c.429G>C c.(427-429)gaG>gaC p.E143D SAYSD1_ENST00000373249.1_Missense_Mutation_p.E76D NM_018322.1 NP_060792.1 Q9NPB0 CF064_HUMAN SAYSVFN motif domain containing 1 143 integral to membrane CCTCTTTCTTCTCTTCAGGGC 0.532000 25 164 0 0 1 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6239847 6239847 + Nonsense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr18:6239847G>A ENST00000400104.3 - 9 777 c.577C>T c.(577-579)Cag>Tag p.Q193* L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.Q193*|L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.Q193*|L3MBTL4_ENST00000284898.6_Nonsense_Mutation_p.Q193*|L3MBTL4_ENST00000535782.1_Nonsense_Mutation_p.Q6* Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 193 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) ATTCCAACCTGAAATTCTTTA 0.468000 4 65 0 0 1 0 0 PHLDB1 23187 broad.mit.edu 37 11 118516501 118516501 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:118516501G>A ENST00000361417.2 + 18 3876 c.3465G>A c.(3463-3465)ctG>ctA p.L1155L PHLDB1_ENST00000527898.1_Silent_p.L206L|PHLDB1_ENST00000524713.1_Silent_p.L298L|PHLDB1_ENST00000356063.5_Silent_p.L1108L|PHLDB1_ENST00000534672.1_3'UTR NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 1155 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) AGAAGATGCTGAAAGAGGCTC 0.587000 8 140 0 0 1 0 0 FBXO5 26271 broad.mit.edu 37 6 153293475 153293475 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:153293475G>C ENST00000367241.3 - 4 1266 c.886C>G c.(886-888)Caa>Gaa p.Q296E FBXO5_ENST00000229758.3_Missense_Mutation_p.Q342E|FBXO5_ENST00000477822.1_5'UTR NM_001142522.1 NP_001135994.1 Q9UKT4 FBX5_HUMAN F-box protein 5 342 F-box. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm|spindle metal ion binding|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1) 15 Ovarian(120;0.125) OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893) AACTTGGTTTGAGCATCTTTT 0.368000 5 105 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76237521 76237521 + Nonsense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:76237521C>T ENST00000529032.1 + 12 1837 c.1837C>T c.(1837-1839)Cag>Tag p.Q613* C11orf30_ENST00000334736.3_Nonsense_Mutation_p.Q613*|C11orf30_ENST00000343878.3_Nonsense_Mutation_p.Q613*|C11orf30_ENST00000524490.1_Nonsense_Mutation_p.Q529*|C11orf30_ENST00000533248.1_Nonsense_Mutation_p.Q627*|C11orf30_ENST00000525038.1_Nonsense_Mutation_p.Q628*|C11orf30_ENST00000524767.1_Nonsense_Mutation_p.Q628*|C11orf30_ENST00000525919.1_Nonsense_Mutation_p.Q614* Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 613 Thr-rich. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 AAAGACTATTCAGACAGTGCC 0.363000 4 73 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 78150787 78150787 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:78150787C>T ENST00000354212.4 - 4 967 c.714G>A c.(712-714)gaG>gaA p.E238E MAGI2_ENST00000536571.1_Silent_p.E70E|MAGI2_ENST00000522391.1_Silent_p.E238E|MAGI2_ENST00000535697.1_Silent_p.E75E|MAGI2_ENST00000517762.1_5'UTR|MAGI2_ENST00000419488.1_Silent_p.E238E NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 238 Guanylate kinase-like. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CCACAGGCCTCTCTTCCTCTT 0.408000 26 249 0 0 1 0 0 NUDT1 4521 broad.mit.edu 37 7 2290555 2290555 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:2290555G>C ENST00000397049.1 + 5 561 c.459G>C c.(457-459)aaG>aaC p.K153N NUDT1_ENST00000397048.1_Missense_Mutation_p.K153N|NUDT1_ENST00000343985.4_Missense_Mutation_p.K153N|NUDT1_ENST00000356714.1_Missense_Mutation_p.K130N|NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000397046.1_Missense_Mutation_p.K130N|NUDT1_ENST00000339737.2_Missense_Mutation_p.K130N NM_198948.1|NM_198949.1 NP_945186.1|NP_945187.1 P36639 8ODP_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 1 171 Nudix hydrolase. DNA protection|DNA repair|response to oxidative stress cytoplasm 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding large_intestine(3)|lung(8)|urinary_tract(1) 12 Ovarian(82;0.0253)|Melanoma(862;0.155) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15) TGCTTCAGAAGAAGAAATTCC 0.572000 Modulation of nucleotide pools 11 287 0 0 1 0 0 FAM46D 169966 broad.mit.edu 37 X 79698716 79698716 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chrX:79698716G>A ENST00000538312.1 + 5 1012 c.678G>A c.(676-678)agG>agA p.R226R FAM46D_ENST00000308293.5_Silent_p.R226R NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 226 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 TATGTACCAGGAAACCTGAAG 0.448000 10 50 0 0 1 0 0 EPS15 2060 broad.mit.edu 37 1 51930972 51930972 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:51930972G>A ENST00000371733.3 - 6 432 c.336C>T c.(334-336)atC>atT p.I112I EPS15_ENST00000371730.2_Silent_p.I112I NM_001981.2 NP_001972.1 P42566 EPS15_HUMAN epidermal growth factor receptor pathway substrate 15 112 cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding p.0?(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 AGGTTCCACTGATTAGCAAAG 0.388000 T MLL ALL 5 65 0 0 1 0 0 C1orf162 128346 broad.mit.edu 37 1 112019465 112019465 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:112019465C>T ENST00000343534.5 + 3 333 c.83C>T c.(82-84)gCa>gTa p.A28V C1orf162_ENST00000369718.3_Missense_Mutation_p.A28V|C1orf162_ENST00000464591.1_3'UTR NM_174896.2 NP_777556.1 Q8NEQ5 CA162_HUMAN chromosome 1 open reading frame 162 28 integral to membrane NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 5 all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134) ACTAGCCCTGCACCCTGTCTC 0.463000 8 131 0 0 1 0 0 ANKRD27 84079 broad.mit.edu 37 19 33108525 33108525 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:33108525C>G ENST00000306065.4 - 21 2180 c.2022G>C c.(2020-2022)ttG>ttC p.L674F NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 674 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) CAACTGCTCTCAAAAGTTTTT 0.274000 4 72 0 0 1 0 0 ATAD2B 54454 broad.mit.edu 37 2 23980425 23980425 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:23980425G>A ENST00000238789.5 - 25 4284 c.3941C>T c.(3940-3942)tCa>tTa p.S1314L ATAD2B_ENST00000474583.1_5'UTR NM_001242338.1|NM_017552.2 NP_001229267.1|NP_060022.1 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 1314 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTTTCTTTTGACTGGTCCTC 0.393000 10 200 0 0 1 0 0 PDE10A 10846 broad.mit.edu 37 6 165806202 165806202 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:165806202G>A ENST00000366882.1 - 17 1713 c.1559C>T c.(1558-1560)gCg>gTg p.A520V PDE10A_ENST00000539869.2_Missense_Mutation_p.A530V|PDE10A_ENST00000354448.4_Missense_Mutation_p.A520V Q9Y233 PDE10_HUMAN phosphodiesterase 10A 520 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding p.A520V(1) breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TACAGTGACCGCATGCTTCCA 0.438000 8 74 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106895152 106895152 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:106895152G>A ENST00000228347.4 + 26 3258 c.3036G>A c.(3034-3036)ctG>ctA p.L1012L POLR3B_ENST00000539066.1_Silent_p.L954L|RP11-144F15.1_ENST00000551505.1_Intron NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 1012 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 ATCAGAAGCTGAAACACATGG 0.438000 4 120 0 0 1 0 0 ARPC1A 10552 broad.mit.edu 37 7 98961223 98961223 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:98961223C>T ENST00000432884.2 + 11 1361 c.900C>T c.(898-900)ggC>ggT p.G300G ARPC1A_ENST00000262942.5_Silent_p.G347G Q92747 ARC1A_HUMAN actin related protein 2/3 complex, subunit 1A, 41kDa 347 actin cytoskeleton organization|regulation of actin filament polymerization actin cytoskeleton|cytoplasm actin binding endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1) 19 all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258) STAD - Stomach adenocarcinoma(171;0.215) GCACTACTGGCATCGATGGAG 0.338000 11 81 0 0 1 0 0 CYP2C18 1562 broad.mit.edu 37 10 96447916 96447916 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr10:96447916G>C ENST00000285979.6 + 3 565 c.366G>C c.(364-366)gaG>gaC p.E122D CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.E122D NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) GATGGAAGGAGATCCGGCGTT 0.517000 15 114 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 22068703 22068703 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:22068703G>A ENST00000261200.4 - 5 714 c.715C>T c.(715-717)Cac>Tac p.H239Y ABCC9_ENST00000261201.4_Missense_Mutation_p.H239Y|ABCC9_ENST00000345162.2_Missense_Mutation_p.H239Y NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 239 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GGCTTTTTGTGAGCAGATATA 0.373000 9 127 0 0 1 0 0 OR1N2 138882 broad.mit.edu 37 9 125316290 125316290 + Nonsense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr9:125316290C>G ENST00000373688.2 + 1 900 c.842C>G c.(841-843)tCa>tGa p.S281* NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 CTTCCTCCATCAACTTACTCT 0.463000 10 151 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50140149 50140149 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr20:50140149G>C ENST00000371564.3 - 2 850 c.631C>G c.(631-633)Cat>Gat p.H211D NFATC2_ENST00000414705.1_Missense_Mutation_p.H191D|NFATC2_ENST00000396009.3_Missense_Mutation_p.H211D NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 211 3 X approximate SP repeats. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GGGGAATAATGAGCAGGGATG 0.632000 7 161 0 0 1 0 0 NDNF 79625 broad.mit.edu 37 4 121958385 121958385 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:121958385G>A ENST00000379692.4 - 4 1267 c.741C>T c.(739-741)ttC>ttT p.F247F NDNF_ENST00000506900.1_5'UTR NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 247 breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 CAAAGGGGCTGAAGTCCAGAC 0.453000 5 74 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111694120 111694120 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:111694120G>A ENST00000435970.1 - 15 6020 c.5204C>T c.(5203-5205)tCa>tTa p.S1735L REV3L_ENST00000368805.1_Missense_Mutation_p.S1813L|REV3L_ENST00000368802.3_Missense_Mutation_p.S1813L|REV3L_ENST00000358835.3_Missense_Mutation_p.S1813L O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1813 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) GGTATTGGCTGAGTCAAGAGA 0.423000 DNA polymerases (catalytic subunits) 11 199 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70983815 70983815 + Missense_Mutation SNP C C A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:70983815C>A ENST00000334414.6 - 8 2023 c.1979G>T c.(1978-1980)aGa>aTa p.R660I PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000261266.5_Missense_Mutation_p.R442I|PTPRB_ENST00000538708.1_Missense_Mutation_p.R442I|PTPRB_ENST00000550358.1_Missense_Mutation_p.R660I|PTPRB_ENST00000551525.1_Missense_Mutation_p.R659I NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 442 Fibronectin type-III 8. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CTCATACTGTCTTCCCGGTAC 0.458000 OREG0021990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 117 0.00307968 0.00311428 1 1 0 UGGT2 55757 broad.mit.edu 37 13 96675963 96675963 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr13:96675963G>C ENST00000376747.3 - 3 362 c.292C>G c.(292-294)Cta>Gta p.L98V UGGT2_ENST00000397618.3_Missense_Mutation_p.L98V|UGGT2_ENST00000376712.4_Missense_Mutation_p.L98V|UGGT2_ENST00000376714.3_Missense_Mutation_p.L98V NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 98 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 AAATTGTCTAGAAACTGTCCA 0.328000 10 170 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72413727 72413727 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:72413727C>T ENST00000395270.1 + 14 3441 c.2400C>T c.(2398-2400)ttC>ttT p.F800F POM121_ENST00000257622.4_Silent_p.F800F|POM121_ENST00000358357.3_Silent_p.F800F|POM121_ENST00000434423.2_Silent_p.F1065F|POM121_ENST00000446813.1_Silent_p.F800F NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1065 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CTGTCTTCTTCGGTGCAGCCA 0.657000 4 92 0 0 1 0 0 YTHDC2 64848 broad.mit.edu 37 5 112871475 112871475 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr5:112871475G>A ENST00000161863.4 + 7 1295 c.1082G>A c.(1081-1083)gGa>gAa p.G361E YTHDC2_ENST00000515883.1_Missense_Mutation_p.G361E NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 361 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) AGATATTTTGGAAGTTGTCCA 0.299000 3 35 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166894586 166894586 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:166894586G>A ENST00000423058.2 - 15 2663 c.2646C>T c.(2644-2646)atC>atT p.I882I AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Silent_p.I871I|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.I882I|SCN1A_ENST00000409050.1_Silent_p.I854I|AC010127.3_ENST00000599041.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 882 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AATTGCCGATGATCTTTATTA 0.403000 6 118 0 0 1 0 0 CCDC54 84692 broad.mit.edu 37 3 107097120 107097120 + Nonsense_Mutation SNP C C A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:107097120C>A ENST00000261058.1 + 1 933 c.686C>A c.(685-687)tCa>tAa p.S229* NM_032600.2 NP_115989.1 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 229 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 CAAAATGCATCAAGGAGCTTT 0.368000 10 147 4.68919e-08 4.79576e-08 1 1 0 GPR179 440435 broad.mit.edu 37 17 36486420 36486420 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:36486420C>T ENST00000342292.4 - 11 3052 c.3032G>A c.(3031-3033)gGc>gAc p.G1011D NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1011 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CCCTGAGGGGCCTTCCTGGGG 0.622000 9 63 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44952515 44952515 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:44952515G>A ENST00000296125.4 + 12 1740 c.1672G>A c.(1672-1674)Gag>Aag p.E558K NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 558 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) ATTAGATGATGAGCCAGTTAT 0.458000 7 90 0 0 1 0 0 CNNM3 26505 broad.mit.edu 37 2 97490929 97490929 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:97490929G>A ENST00000305510.3 + 2 1388 c.1360G>A c.(1360-1362)Gaa>Aaa p.E454K CNNM3_ENST00000377060.3_Intron|ANKRD23_ENST00000476975.1_Intron NM_017623.4 NP_060093.3 Q8NE01 CNNM3_HUMAN cyclin M3 454 ion transport integral to membrane|plasma membrane protein binding NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2) 13 GGACGAGTCTGAAGACTACCG 0.607000 3 34 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114070460 114070460 + Silent SNP A A T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:114070460A>T ENST00000462705.1 - 11 1067 c.246T>A c.(244-246)atT>atA p.I82I ZBTB20_ENST00000393785.2_Silent_p.I82I|ZBTB20_ENST00000474710.1_Silent_p.I155I|ZBTB20_ENST00000357258.3_Silent_p.I82I|ZBTB20_ENST00000464560.1_Silent_p.I82I|ZBTB20_ENST00000481632.1_Silent_p.I82I|ZBTB20_ENST00000471418.1_Silent_p.I82I NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) ACATGAAGTCAATGAGCTTTT 0.577000 13 72 0 0 1 0 0 TLE1 7088 broad.mit.edu 37 9 84226786 84226786 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr9:84226786C>T ENST00000376499.3 - 13 2216 c.1152G>A c.(1150-1152)ctG>ctA p.L384L TLE1_ENST00000464999.1_5'UTR|TLE1_ENST00000376472.1_Silent_p.L59L|TLE1_ENST00000376484.1_Silent_p.L59L NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 384 Pro/Ser-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 CTGGGCTGGTCAGCTCGCCGT 0.672000 4 57 0 0 1 0 0 BTN2A2 10385 broad.mit.edu 37 6 26393148 26393148 + Missense_Mutation SNP G G A rs114098566 by1000genomes TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:26393148G>A ENST00000356709.4 + 8 1636 c.1525G>A c.(1525-1527)Gaa>Aaa p.E509K BTN2A2_ENST00000482536.1_Missense_Mutation_p.E299K|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.E509K|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000352867.2_Missense_Mutation_p.E393K NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 509 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 CATGGTGCCTGAAGAGGGCCT 0.552000 7 67 0 0 1 0 0 UBE3C 9690 broad.mit.edu 37 7 157046701 157046701 + Silent SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:157046701G>C ENST00000348165.5 + 20 3108 c.2748G>C c.(2746-2748)cgG>cgC p.R916R NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 916 HECT. protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) GCGCCAACCGGATTGCGTACA 0.517000 7 46 0 0 1 0 0 ENPP6 133121 broad.mit.edu 37 4 185012400 185012400 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:185012400G>A ENST00000296741.2 - 8 1394 c.1253C>T c.(1252-1254)gCc>gTc p.A418V NM_153343.3 NP_699174.1 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 6 418 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) GGCAGTGCTGGCGCGGCCCTT 0.562000 6 73 0 0 1 0 0 TRIM15 89870 broad.mit.edu 37 6 30138306 30138306 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:30138306G>C ENST00000376694.4 + 5 1229 c.760G>C c.(760-762)Gag>Cag p.E254Q TRIM15_ENST00000376688.1_Intron NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 254 mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 TGTGAGTCCTGAGGCCATTTC 0.473000 7 86 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140594698 140594698 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr5:140594698C>T ENST00000341948.4 + 1 1190 c.1003C>T c.(1003-1005)Ctg>Ttg p.L335L NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 335 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATGCACCGTTCTGATTCAAGT 0.423000 22 256 0 0 1 0 0 C12orf5 57103 broad.mit.edu 37 12 4430449 4430449 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:4430449C>T ENST00000179259.4 + 1 79 c.12C>T c.(10-12)ttC>ttT p.F4F NM_020375.2 NP_065108.1 Q9NQ88 TIGAR_HUMAN chromosome 12 open reading frame 5 4 intracellular fructose-2,6-bisphosphate 2-phosphatase activity endometrium(1)|large_intestine(1)|lung(5)|skin(3) 10 all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206) TGGCTCGCTTCGCTCTGACTG 0.647000 4 72 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31429877 31429877 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr16:31429877G>A ENST00000389202.2 + 23 2821 c.2772G>A c.(2770-2772)atG>atA p.M924I NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 924 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TCTACACCATGATCAGCAGGT 0.557000 5 92 0 0 1 0 0 TOP2A 7153 broad.mit.edu 37 17 38573102 38573102 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:38573102C>G ENST00000423485.1 - 2 225 c.67G>C c.(67-69)Gat>Cat p.D23H NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 23 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) TTCTTAGCATCTTCATTTTTC 0.318000 5 84 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71027138 71027138 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:71027138C>T ENST00000318789.4 - 15 1714 c.1189G>A c.(1189-1191)Gag>Aag p.E397K FOXP1_ENST00000498215.1_Missense_Mutation_p.E397K|FOXP1_ENST00000491238.1_Missense_Mutation_p.E399K|FOXP1_ENST00000493089.1_Missense_Mutation_p.E397K|FOXP1_ENST00000468577.1_Missense_Mutation_p.E397K|FOXP1_ENST00000484350.1_Missense_Mutation_p.E321K|FOXP1_ENST00000475937.1_Missense_Mutation_p.E397K NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 397 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GGAGAAGCCTCCGATGCGGAC 0.527000 T PAX5 ALL 5 150 0 0 1 0 0 KATNB1 10300 broad.mit.edu 37 16 57786825 57786825 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr16:57786825C>T ENST00000379661.3 + 10 1232 c.840C>T c.(838-840)atC>atT p.I280I NM_005886.2 NP_005877.2 Q9BVA0 KTNB1_HUMAN katanin p80 (WD repeat containing) subunit B 1 280 Interaction with centrosomes.|Interaction with dynein (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) ACCTGGCCATCTGCAATGACC 0.667000 3 21 0 0 1 0 0 ZNF383 163087 broad.mit.edu 37 19 37733871 37733871 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:37733871C>G ENST00000589413.1 + 8 1316 c.733C>G c.(733-735)Cag>Gag p.Q245E ZNF383_ENST00000352998.3_Missense_Mutation_p.Q245E|ZNF383_ENST00000590503.1_Missense_Mutation_p.Q245E Q8NA42 ZN383_HUMAN zinc finger protein 383 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.Q245E(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1) 15 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTCTCAACATCAGAGAATCCA 0.408000 5 80 0 0 1 0 0 CD38 952 broad.mit.edu 37 4 15850186 15850186 + Silent SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:15850186G>C ENST00000226279.2 + 8 1001 c.864G>C c.(862-864)gtG>gtC p.V288V NM_001775.2 NP_001766.2 P28907 CD38_HUMAN CD38 molecule 288 B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1) 14 TTCAGTGTGTGAAAAATCCTG 0.428000 9 86 0 0 1 0 0 ASIC1 41 broad.mit.edu 37 12 50473825 50473825 + Nonsense_Mutation SNP G G T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:50473825G>T ENST00000228468.4 + 8 1577 c.1192G>T c.(1192-1194)Gag>Tag p.E398* ASIC1_ENST00000447966.2_Nonsense_Mutation_p.E398*|ASIC1_ENST00000552438.1_Nonsense_Mutation_p.E432* NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 398 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CAACAAATCTGAGCAATACAT 0.557000 4 69 0.150653 0.150653 1 1 0 NUDT17 200035 broad.mit.edu 37 1 145586858 145586858 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:145586858C>G ENST00000334513.5 - 7 841 c.830G>C c.(829-831)aGa>aCa p.R277T NM_001012758.2 NP_001012776.1 P0C025 NUD17_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 17 277 hydrolase activity|metal ion binding endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2) 9 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AGTGCTGACTCTCTCTTTGTC 0.547000 14 210 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123275103 123275103 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:123275103G>A ENST00000264501.4 + 82 14609 c.14236G>A c.(14236-14238)Gaa>Aaa p.E4746K KIAA1109_ENST00000388738.3_Missense_Mutation_p.E4746K Q2LD37 K1109_HUMAN KIAA1109 4746 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GCGTCGCCATGAAAATCCACC 0.388000 5 68 0 0 1 0 0 SPR 6697 broad.mit.edu 37 2 73115471 73115471 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:73115471C>T ENST00000234454.5 + 2 406 c.333C>T c.(331-333)ttC>ttT p.F111F SPR_ENST00000498749.1_Intron NM_003124.4 NP_003115.1 P35270 SPRE_HUMAN sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) 111 nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process cytoplasm aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity lung(4)|ovary(2) 6 CCAAAGGCTTCGTGGACCTGA 0.552000 OREG0014704 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 119 0 0 1 0 0 DEPDC1 55635 broad.mit.edu 37 1 68948054 68948054 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:68948054G>A ENST00000456315.2 - 8 1551 c.1437C>T c.(1435-1437)ttC>ttT p.F479F RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 479 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) AACCAGCACTGAATGGCTTTT 0.373000 5 52 0 0 1 0 0 NUP133 55746 broad.mit.edu 37 1 229633923 229633923 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:229633923G>C ENST00000261396.3 - 6 870 c.779C>G c.(778-780)tCt>tGt p.S260C NUP133_ENST00000537506.1_Missense_Mutation_p.S244C|NUP133_ENST00000366679.1_Missense_Mutation_p.S260C NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 260 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding p.S260F(1) NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) AAAAAGAGAAGAAACTTTTCG 0.353000 5 88 0 0 1 0 0 RNF165 494470 broad.mit.edu 37 18 44015328 44015328 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr18:44015328C>G ENST00000269439.7 + 3 505 c.454C>G c.(454-456)Cag>Gag p.Q152E RNF165_ENST00000543885.1_Intron NM_152470.2 NP_689683.2 Q6ZSG1 RN165_HUMAN ring finger protein 165 152 zinc ion binding NS(1)|large_intestine(4)|lung(6) 11 READ - Rectum adenocarcinoma(1;0.0873) GCAGACACCTCAGCCCAGGTA 0.627000 4 58 0 0 1 0 0 MUC13 56667 broad.mit.edu 37 3 124653538 124653538 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:124653538G>C ENST00000311075.3 - 1 57 c.19C>G c.(19-21)Ctt>Gtt p.L7V MUC13_ENST00000497378.1_Intron NM_033049.3 NP_149038.3 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 7 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 AGAAGAGTAAGATGAATGATG 0.378000 4 86 0 0 1 0 0 IL17A 3605 broad.mit.edu 37 6 52053869 52053869 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:52053869G>C ENST00000340057.1 + 3 292 c.247G>C c.(247-249)Gag>Cag p.E83Q NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 83 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) TGAGGACCCTGAGAGATATCC 0.502000 4 32 0 0 1 0 0 SERPINE3 647174 broad.mit.edu 37 13 51915427 51915427 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr13:51915427G>A ENST00000524365.1 + 4 825 c.200G>A c.(199-201)gGa>gAa p.G67E SERPINE3_ENST00000400389.4_Missense_Mutation_p.G67E|SERPINE3_ENST00000521255.1_Missense_Mutation_p.G67E A8MV23 SERP3_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 67 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2) 2 CTGCAGTTTGGAGCAGAAGGG 0.572000 3 37 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22838582 22838582 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:22838582C>T ENST00000404138.1 + 12 2927 c.2416C>T c.(2416-2418)Cca>Tca p.P806S ZBTB40_ENST00000374651.4_Missense_Mutation_p.P694S|ZBTB40_ENST00000375647.4_Missense_Mutation_p.P806S NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 806 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) GAAGAGGCTTCCAGTGACATG 0.498000 4 79 0 0 1 0 0 TRPM7 54822 broad.mit.edu 37 15 50888513 50888513 + Nonsense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr15:50888513G>A ENST00000313478.7 - 23 3510 c.3229C>T c.(3229-3231)Caa>Taa p.Q1077* TRPM7_ENST00000560955.1_Nonsense_Mutation_p.Q1077* NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 1077 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TAGACTGCTTGAAGAAATGGA 0.318000 8 120 0 0 1 0 0 COLGALT2 23127 broad.mit.edu 37 1 183913451 183913451 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:183913451C>T ENST00000361927.4 - 10 1647 c.1276G>A c.(1276-1278)Gat>Aat p.D426N COLGALT2_ENST00000546159.1_Missense_Mutation_p.D426N|COLGALT2_ENST00000367520.3_Missense_Mutation_p.D163N|COLGALT2_ENST00000367521.1_Missense_Mutation_p.D34N NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 AGCTCTCGATCAATTACCTGC 0.363000 5 86 0 0 1 0 0 ITGB6 3694 broad.mit.edu 37 2 160968678 160968678 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:160968678G>C ENST00000283249.2 - 13 2251 c.2014C>G c.(2014-2016)Ctg>Gtg p.L672V ITGB6_ENST00000428609.2_Missense_Mutation_p.L630V|ITGB6_ENST00000409872.1_Missense_Mutation_p.L672V|ITGB6_ENST00000409967.2_Missense_Mutation_p.L565V P18564 ITB6_HUMAN integrin, beta 6 672 cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 TCTCCTTGCAGAGAGCAGGAA 0.348000 5 122 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62598777 62598777 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:62598777C>T ENST00000512091.1 + 7 1447 c.700C>T c.(700-702)Cgg>Tgg p.R234W LPHN3_ENST00000506700.1_Missense_Mutation_p.R234W|LPHN3_ENST00000506746.1_Missense_Mutation_p.R302W|LPHN3_ENST00000514157.1_Missense_Mutation_p.R234W|LPHN3_ENST00000508946.1_Missense_Mutation_p.R234W|LPHN3_ENST00000506720.1_Missense_Mutation_p.R302W|LPHN3_ENST00000514591.1_Missense_Mutation_p.R234W|LPHN3_ENST00000514996.1_Missense_Mutation_p.R234W|LPHN3_ENST00000511324.1_Missense_Mutation_p.R302W|LPHN3_ENST00000509896.1_Missense_Mutation_p.R302W|LPHN3_ENST00000504896.1_Missense_Mutation_p.R234W|LPHN3_ENST00000508693.1_Missense_Mutation_p.R302W|LPHN3_ENST00000545650.1_Missense_Mutation_p.R234W|LPHN3_ENST00000507625.1_Missense_Mutation_p.R302W|LPHN3_ENST00000507164.1_Missense_Mutation_p.R302W Q9HAR2 LPHN3_HUMAN latrophilin 3 234 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding p.R234W(3) 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 GTTTGATTTGCGGACTAGGAT 0.468000 5 40 0 0 1 0 0 FGF23 8074 broad.mit.edu 37 12 4479668 4479668 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:4479668C>T ENST00000237837.1 - 3 742 c.597G>A c.(595-597)atG>atA p.M199I NM_020638.2 NP_065689.1 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 199 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) GGGCCGGGGTCATCCGGGCCC 0.682000 5 49 0 0 1 0 0 TMBIM1 64114 broad.mit.edu 37 2 219144753 219144753 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:219144753C>T ENST00000444881.1 - 4 1024 c.299G>A c.(298-300)cGa>cAa p.R100Q PNKD_ENST00000472650.1_Intron|TMBIM1_ENST00000258412.3_Missense_Mutation_p.R100Q|TMBIM1_ENST00000396809.2_Missense_Mutation_p.R100Q|PNKD_ENST00000273077.4_Intron|TMBIM1_ENST00000445635.1_5'UTR Q969X1 TMBI1_HUMAN transmembrane BAX inhibitor motif containing 1 100 integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2) 9 Renal(207;0.0474) Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCTTACCTTTCGGATAAAAGT 0.587000 7 85 0 0 1 0 0 FANCI 55215 broad.mit.edu 37 15 89844556 89844556 + Splice_Site SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr15:89844556G>A ENST00000310775.7 + 27 2975 c.e27-1 FANCI_ENST00000300027.8_Splice_Site NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) TCCTTTCTCAGAGGTCCTTGT 0.443000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 7 106 0 0 1 0 0 OS9 10956 broad.mit.edu 37 12 58114262 58114262 + Missense_Mutation SNP G G T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:58114262G>T ENST00000315970.7 + 14 1880 c.1839G>T c.(1837-1839)gaG>gaT p.E613D OS9_ENST00000552285.1_Missense_Mutation_p.E558D|OS9_ENST00000439210.2_Missense_Mutation_p.E484D|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389146.6_Missense_Mutation_p.E598D|OS9_ENST00000413095.2_Missense_Mutation_p.E352D|OS9_ENST00000389142.5_Missense_Mutation_p.E543D|OS9_ENST00000435406.2_Missense_Mutation_p.E506D|OS9_ENST00000551035.1_Missense_Mutation_p.E526D|OS9_ENST00000257966.8_Missense_Mutation_p.E559D NM_001017958.2|NM_006812.3 NP_001017958.1|NP_006803.1 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum lectin 613 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 21 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) TGACTGATGAGGACACGAGAA 0.542000 6 54 0.0215528 0.0216329 1 1 0 KRT27 342574 broad.mit.edu 37 17 38936044 38936044 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:38936044C>G ENST00000301656.3 - 4 794 c.754G>C c.(754-756)Gac>Cac p.D252H NM_181537.3 NP_853515.2 Q7Z3Y8 K1C27_HUMAN keratin 27 252 Linker 12.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) ACCGTGAGGTCTACCCCGGGG 0.537000 4 60 0 0 1 0 0 MASTL 84930 broad.mit.edu 37 10 27459638 27459638 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr10:27459638G>A ENST00000375946.4 + 8 2353 c.1750G>A c.(1750-1752)Gaa>Aaa p.E584K MASTL_ENST00000375940.4_Missense_Mutation_p.E584K|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.E584K NM_001172303.1|NM_032844.3 NP_001165774.1|NP_116233.2 Q96GX5 GWL_HUMAN microtubule associated serine/threonine kinase-like 584 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AAGTCCATTAGAAAGTCAGCC 0.318000 4 97 0 0 1 0 0 NLN 57486 broad.mit.edu 37 5 65084006 65084006 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr5:65084006G>A ENST00000380985.5 + 8 1198 c.1020G>A c.(1018-1020)ttG>ttA p.L340L NLN_ENST00000502464.1_Silent_p.L236L NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) 340 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) TTTTGAATTTGAAGAAAAAGG 0.358000 11 142 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47886750 47886750 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr20:47886750C>T ENST00000396105.1 - 3 1845 c.1599G>A c.(1597-1599)caG>caA p.Q533Q ZNFX1_ENST00000371754.4_Silent_p.Q533Q|ZNFX1_ENST00000371752.1_Silent_p.Q533Q NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 533 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CGATATTCCTCTGGAAGGGAA 0.502000 11 108 0 0 1 0 0 GPR124 25960 broad.mit.edu 37 8 37691311 37691311 + Nonsense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr8:37691311C>T ENST00000315215.7 + 10 1765 c.1402C>T c.(1402-1404)Cag>Tag p.Q468* GPR124_ENST00000412232.2_Nonsense_Mutation_p.Q468* Q96PE1 GP124_HUMAN G protein-coupled receptor 124 468 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) CTATGTGGCTCAGATGATCCA 0.527000 5 73 0 0 1 0 0 GFAP 2670 broad.mit.edu 37 17 42987581 42987581 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:42987581G>C ENST00000435360.2 - 8 1226 c.1219C>G c.(1219-1221)Ctc>Gtc p.L407V GFAP_ENST00000253408.5_Intron|GFAP_ENST00000588735.1_Intron NM_001131019.2|NM_001242376.1 NP_001124491.1|NP_001229305.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 405 Tail. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) AGGCTTTTGAGATATCTTGTG 0.483000 10 178 0 0 1 0 0 GPAM 57678 broad.mit.edu 37 10 113928627 113928627 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr10:113928627C>T ENST00000348367.4 - 10 1075 c.878G>A c.(877-879)aGa>aAa p.R293K GPAM_ENST00000423155.1_Missense_Mutation_p.R293K|GPAM_ENST00000369425.1_Missense_Mutation_p.R293K Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 293 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) GAGCAAAGCTCTATAGAGAAC 0.408000 4 85 0 0 1 0 0 GTPBP1 9567 broad.mit.edu 37 22 39112877 39112877 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr22:39112877G>C ENST00000216044.5 + 4 939 c.706G>C c.(706-708)Gag>Cag p.E236Q NM_004286.4 NP_004277.2 O00178 GTPB1_HUMAN GTP binding protein 1 236 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) CGGCAGCCTGGAGTGGACCAA 0.517000 5 132 0 0 1 0 0 HOOK2 29911 broad.mit.edu 37 19 12874125 12874125 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:12874125G>A ENST00000264827.5 - 22 2295 c.2125C>T c.(2125-2127)Ctg>Ttg p.L709L HOOK2_ENST00000397668.3_Silent_p.L711L NM_001100176.1 NP_001093646.1 Q96ED9 HOOK2_HUMAN hook microtubule-tethering protein 2 711 Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1) 20 CGAAGGTTCAGAGATGCCAGG 0.647000 6 65 0 0 1 0 0 GCNT4 51301 broad.mit.edu 37 5 74325489 74325489 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr5:74325489G>A ENST00000322348.4 - 1 1235 c.374C>T c.(373-375)tCa>tTa p.S125L NM_016591.2 NP_057675.1 Q9P109 GCNT4_HUMAN glucosaminyl (N-acetyl) transferase 4, core 2 125 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) CTCCTCCTTTGAGACAAGCTT 0.403000 11 141 0 0 1 0 0 C9orf84 158401 broad.mit.edu 37 9 114538159 114538159 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr9:114538159G>A ENST00000374287.3 - 5 422 c.162C>T c.(160-162)gtC>gtT p.V54V C9orf84_ENST00000318737.4_Silent_p.V54V|C9orf84_ENST00000374283.5_Silent_p.V118V Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 54 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TGTATAAACTGACCTCCTCTA 0.373000 7 101 0 0 1 0 0 OR5A2 219981 broad.mit.edu 37 11 59190019 59190019 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:59190019G>A ENST00000302040.4 - 1 430 c.408C>T c.(406-408)ctC>ctT p.L136L NM_001001954.1 NP_001001954.1 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, member 2 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 21 TATGGGATATGAGGACTGTGT 0.458000 6 68 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123069497 123069497 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:123069497C>T ENST00000333479.7 + 36 3671 c.3494C>T c.(3493-3495)tCc>tTc p.S1165F KNTC1_ENST00000450485.2_Intron NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1165 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) GTAGAGCTTTCCAGACAATGC 0.328000 4 53 0 0 1 0 0 GOLT1A 127845 broad.mit.edu 37 1 204170841 204170841 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:204170841C>T ENST00000308302.3 - 3 401 c.216G>A c.(214-216)ctG>ctA p.L72L NM_198447.1 NP_940849.1 Q6ZVE7 GOT1A_HUMAN golgi transport 1A 72 protein transport|vesicle-mediated transport Golgi membrane|integral to membrane kidney(1)|lung(2)|urinary_tract(1) 4 all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244) CCACACCCCCCAGGAGGAAGC 0.537000 6 129 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7663189 7663189 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:7663189C>T ENST00000572933.1 + 17 4178 c.2718C>T c.(2716-2718)gtC>gtT p.V906V DNAH2_ENST00000389173.2_Silent_p.V906V Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 906 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCATCTCTGTCTTCTGCCACC 0.542000 14 256 0 0 1 0 0 POLR3E 55718 broad.mit.edu 37 16 22320778 22320778 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr16:22320778C>T ENST00000299853.5 + 6 478 c.311C>T c.(310-312)tCt>tTt p.S104F POLR3E_ENST00000359210.4_Missense_Mutation_p.S104F|POLR3E_ENST00000564209.1_Missense_Mutation_p.S104F|POLR3E_ENST00000418581.2_Missense_Mutation_p.S68F|POLR3E_ENST00000564256.1_3'UTR NM_001258033.1|NM_001258035.1|NM_018119.3 NP_001244962.1|NP_001244964.1|NP_060589.1 Q9NVU0 RPC5_HUMAN polymerase (RNA) III (DNA directed) polypeptide E (80kD) 104 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.012) ACCTTCTGCTCTTCCCAGACC 0.637000 5 381 0 0 1 0 0 CAMK2D 817 broad.mit.edu 37 4 114381309 114381309 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:114381309C>G ENST00000454265.2 - 18 2131 c.1273G>C c.(1273-1275)Gaa>Caa p.E425Q CAMK2D_ENST00000508738.1_Missense_Mutation_p.E411Q|CAMK2D_ENST00000429180.1_Missense_Mutation_p.E420Q|CAMK2D_ENST00000514328.1_Missense_Mutation_p.E399Q|CAMK2D_ENST00000394524.3_Missense_Mutation_p.E400Q|CAMK2D_ENST00000394522.3_Missense_Mutation_p.E414Q|CAMK2D_ENST00000505990.1_Missense_Mutation_p.E434Q|CAMK2D_ENST00000394526.2_Missense_Mutation_p.E411Q|CAMK2D_ENST00000515496.1_Missense_Mutation_p.E411Q|CAMK2D_ENST00000379773.2_Missense_Mutation_p.E400Q|CAMK2D_ENST00000418639.2_Missense_Mutation_p.E414Q|CAMK2D_ENST00000511664.1_Missense_Mutation_p.E434Q|CAMK2D_ENST00000296402.5_Missense_Mutation_p.E400Q|CAMK2D_ENST00000342666.5_Missense_Mutation_p.E400Q Q13557 KCC2D_HUMAN calcium/calmodulin-dependent protein kinase II delta 400 interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 13 Ovarian(17;0.00369)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000271) GTACCATTTTCAAAGTAGAAT 0.343000 5 108 0 0 1 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39912806 39912806 + Missense_Mutation SNP T T G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:39912806T>G ENST00000425673.1 + 15 1793 c.1468T>G c.(1468-1470)Tca>Gca p.S490A PLEKHG2_ENST00000409794.3_Missense_Mutation_p.S519A|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.S460A|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.S519A|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.S519A Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 519 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GCCACCAGTTTCAGGCTCTGC 0.572000 4 27 0 0 1 0 0 LMBR1L 55716 broad.mit.edu 37 12 49498291 49498291 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:49498291G>A ENST00000267102.8 - 5 717 c.375C>T c.(373-375)atC>atT p.I125I LMBR1L_ENST00000395141.4_Silent_p.I120I|LMBR1L_ENST00000547382.1_Silent_p.I125I|LMBR1L_ENST00000553204.1_Intron NM_018113.2 NP_060583.2 Q6UX01 LMBRL_HUMAN limb development membrane protein 1-like 125 endocytosis integral to membrane|plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GCATGAGGAAGATGAGGGACA 0.498000 8 120 0 0 1 0 0 MYO1H 283446 broad.mit.edu 37 12 109834318 109834318 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:109834318G>A ENST00000310903.5 + 4 478 c.372G>A c.(370-372)gtG>gtA p.V124V MYO1H_ENST00000431443.2_Silent_p.V124V B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 ATTTTGCAGTGACCTGCCCAA 0.493000 4 54 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10257201 10257201 + Splice_Site SNP C C G rs9676676 TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:10257201C>G ENST00000340748.4 - 27 2908 c.e27-1 DNMT1_ENST00000359526.4_Splice_Site|DNMT1_ENST00000540357.1_Splice_Site P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CACACAGAATCTGAAGGAAAC 0.562000 5 90 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433958 73433958 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:73433958C>G ENST00000263666.4 - 10 1873 c.1759G>C c.(1759-1761)Gag>Cag p.E587Q PDZRN3_ENST00000535920.1_Missense_Mutation_p.E309Q|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E244Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E304Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.E244Q NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 587 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CCATTGTTCTCTTGCTCCGAG 0.637000 4 63 0 0 1 0 0 HOXB1 3211 broad.mit.edu 37 17 46607143 46607143 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:46607143G>A ENST00000239174.6 - 2 764 c.672C>T c.(670-672)ttC>ttT p.F224F HOXB1_ENST00000577092.1_3'UTR NM_002144.3 NP_002135.2 P14653 HXB1_HUMAN homeobox B1 224 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GGTACTTGTTGAAATGGAACT 0.577000 11 203 0 0 1 0 0 WSCD2 9671 broad.mit.edu 37 12 108589738 108589738 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:108589738C>T ENST00000332082.4 + 3 947 c.129C>T c.(127-129)ccC>ccT p.P43P WSCD2_ENST00000261400.3_Silent_p.P43P|WSCD2_ENST00000549903.1_Silent_p.P43P|WSCD2_ENST00000547525.1_Silent_p.P43P Q2TBF2 WSCD2_HUMAN WSC domain containing 2 43 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 TGGGCCAGCCCGCTGTCTCGG 0.612000 8 137 0 0 1 0 0 ZNF214 7761 broad.mit.edu 37 11 7022032 7022032 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:7022032C>T ENST00000278314.4 - 3 1197 c.882G>A c.(880-882)caG>caA p.Q294Q ZNF214_ENST00000536068.1_Silent_p.Q294Q NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 294 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) TGTGAACTCTCTGATGAAAGT 0.433000 14 211 0 0 1 0 0 MINK1 50488 broad.mit.edu 37 17 4798511 4798511 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:4798511C>T ENST00000355280.6 + 25 3255 c.3059C>T c.(3058-3060)tCc>tTc p.S1020F MINK1_ENST00000347992.7_Missense_Mutation_p.S991F|MINK1_ENST00000453408.3_Missense_Mutation_p.S1000F NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 1020 CNH.|Mediates interaction with RAP2A. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 CGATTCAACTCCGAGATCCTC 0.597000 6 262 0 0 1 0 0 SLC25A6 293 broad.mit.edu 37 X 1508295 1508295 + Missense_Mutation SNP C C G rs143851976 TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chrX:1508295C>G ENST00000381401.5 - 2 1151 c.437G>C c.(436-438)gGa>gCa p.G146A SLC25A6_ENST00000475167.1_5'UTR NM_001636.3 NP_001627.2 P12236 ADT3_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 146 active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle integral to membrane|mitochondrial inner membrane presequence translocase complex ATP:ADP antiporter activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1) 11 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) Clodronate(DB00720) GCCTGACTTTCCCACGTCCGC 0.667000 7 218 0 0 1 0 0 OR5H1 26341 broad.mit.edu 37 3 97852033 97852033 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:97852033C>G ENST00000354565.2 + 1 492 c.492C>G c.(490-492)ttC>ttG p.F164L RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 GATTTTTATTCAGACTAACCT 0.343000 6 184 0 0 1 0 0 CXXC5 51523 broad.mit.edu 37 5 139061005 139061005 + Silent SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr5:139061005C>G ENST00000302517.3 + 2 1611 c.897C>G c.(895-897)ctC>ctG p.L299L CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Silent_p.L299L NM_016463.7 NP_057547.5 Q7LFL8 CXXC5_HUMAN CXXC finger protein 5 299 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGAGGAACTCAAAAAGAAGC 0.567000 5 156 0 0 1 0 0 MSI2 124540 broad.mit.edu 37 17 55339539 55339539 + Nonsense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:55339539C>T ENST00000284073.2 + 5 507 c.298C>T c.(298-300)Cga>Tga p.R100* MSI2_ENST00000416426.2_Nonsense_Mutation_p.R78*|MSI2_ENST00000322684.3_Nonsense_Mutation_p.R96* NM_138962.2 NP_620412.1 Q96DH6 MSI2H_HUMAN musashi RNA-binding protein 2 100 RRM 1. cytoplasm nucleotide binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1) 7 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) ATTTCCTCGTCGAGCGCAACC 0.358000 T HOXA9 CML 10 126 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6694573 6694573 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:6694573G>A ENST00000245907.6 - 24 3115 c.3023C>T c.(3022-3024)tCg>tTg p.S1008L NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1008 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CCCGCAGCCCGAGGGGGTCAC 0.607000 7 77 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74411183 74411183 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:74411183G>A ENST00000263665.6 - 10 1249 c.1222C>T c.(1222-1224)Cca>Tca p.P408S NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 408 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) GAAAAATCTGGAGCAGAAGCT 0.433000 6 60 0 0 1 0 0 GMPS 8833 broad.mit.edu 37 3 155628611 155628611 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:155628611G>A ENST00000496455.1 + 6 992 c.657G>A c.(655-657)gtG>gtA p.V219V GMPS_ENST00000295920.7_Silent_p.V120V NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase 219 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCTTCACCGTGCAGAACAGAG 0.388000 T MLL AML 11 73 0 0 1 0 0 LYZL6 57151 broad.mit.edu 37 17 34266358 34266358 + Translation_Start_Site SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:34266358C>T ENST00000585556.1 - 2 337 c.3G>A c.(1-3)atG>atA p.M1I LYZL6_ENST00000293274.4_Start_Codon_SNP_p.M1I|LYZL6_ENST00000394523.3_Start_Codon_SNP_p.M1I O75951 LYZL6_HUMAN lysozyme-like 6 1 cell wall macromolecule catabolic process extracellular region lysozyme activity breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 12 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GCGCCTTTGTCATCCTTGGAG 0.557000 6 147 0 0 1 0 0 BTN2A2 10385 broad.mit.edu 37 6 26393159 26393159 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:26393159G>A ENST00000356709.4 + 8 1647 c.1536G>A c.(1534-1536)ctG>ctA p.L512L BTN2A2_ENST00000482536.1_Silent_p.L302L|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Silent_p.L512L|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000352867.2_Silent_p.L396L NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 512 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 AAGAGGGCCTGAAACTTCACA 0.562000 5 53 0 0 1 0 0 OR4N5 390437 broad.mit.edu 37 14 20612771 20612771 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr14:20612771G>A ENST00000333629.1 + 1 877 c.877G>A c.(877-879)Gag>Aag p.E293K NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TCGCAACCAGGAGGTGAAAGC 0.413000 10 151 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248366390 248366390 + Silent SNP C C T rs139852822 byFrequency TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:248366390C>T ENST00000456743.1 + 1 59 c.21C>T c.(19-21)acC>acT p.T7T NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 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;0.0245) AGAATTCGACCTTCAACTCCG 0.448000 15 202 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151851163 151851163 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:151851163G>A ENST00000355193.2 - 49 12597 c.12379C>T c.(12379-12381)Cct>Tct p.P4127S KMT2C_ENST00000485241.1_5'UTR|KMT2C_ENST00000262189.6_Missense_Mutation_p.P4070S lysine (K)-specific methyltransferase 2C TTTGGGGAAGGACCAAAAGGT 0.368000 12 93 0 0 1 0 0 FMN1 342184 broad.mit.edu 37 15 33261005 33261005 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr15:33261005G>A ENST00000334528.9 - 4 2227 c.2228C>T c.(2227-2229)tCt>tTt p.S743F FMN1_ENST00000561249.1_Missense_Mutation_p.S868F|FMN1_ENST00000559047.1_Missense_Mutation_p.S966F NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 966 Mediates interaction with alpha-catenin (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) TTGACTGGAAGAAGAGCCAAG 0.552000 6 105 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155254071 155254071 + Missense_Mutation SNP G G A rs72966165 by1000genomes TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:155254071G>A ENST00000357232.3 - 9 1791 c.1792C>T c.(1792-1794)Ctc>Ttc p.L598F DCHS2_ENST00000339452.1_Missense_Mutation_p.L1097F NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 598 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ATCGGTGAGAGAGACTCACTG 0.562000 10 79 0 0 1 0 0 NPR3 4883 broad.mit.edu 37 5 32724823 32724823 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr5:32724823C>T ENST00000265074.8 + 2 1132 c.789C>T c.(787-789)agC>agT p.S263S NPR3_ENST00000415685.2_Silent_p.S47S|NPR3_ENST00000434067.2_Silent_p.S47S|NPR3_ENST00000415167.2_Silent_p.S263S NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 263 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) TGTGTGCGAGCAGTGACACCA 0.537000 8 53 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39264296 39264296 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr13:39264296G>A ENST00000280481.7 + 1 3031 c.2815G>A c.(2815-2817)Gaa>Aaa p.E939K NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 939 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AGTGGATGATGAAGTGCCCAT 0.493000 4 62 0 0 1 0 0 TANGO6 79613 broad.mit.edu 37 16 68909060 68909060 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr16:68909060G>A ENST00000261778.1 + 5 1010 c.998G>A c.(997-999)gGa>gAa p.G333E NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) GTGCCAGCGGGAGCAGCTGGT 0.473000 6 59 0 0 1 0 0 RSPO2 340419 broad.mit.edu 37 8 108970488 108970488 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr8:108970488C>T ENST00000276659.5 - 5 1056 c.436G>A c.(436-438)Gaa>Aaa p.E146K RSPO2_ENST00000517939.1_Missense_Mutation_p.E79K|RSPO2_ENST00000517781.1_Missense_Mutation_p.E82K|RSPO2_ENST00000378439.2_Missense_Mutation_p.E82K NM_178565.4 NP_848660.3 Q6UXX9 RSPO2_HUMAN R-spondin 2 146 TSP type-1. Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) TGACCAACTTCACATCCTTCT 0.358000 5 102 0 0 1 0 0 GCLC 2729 broad.mit.edu 37 6 53370645 53370645 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:53370645G>A ENST00000229416.6 - 11 1729 c.1246C>T c.(1246-1248)Cca>Tca p.P416S RP1-27K12.4_ENST00000508884.1_RNA NM_001197115.1|NM_001498.3 NP_001184044.1|NP_001489.1 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 416 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) TCTGAGTTTGGAGGAGGGGGC 0.423000 6 126 0 0 1 0 0 DDX26B 203522 broad.mit.edu 37 X 134706908 134706908 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chrX:134706908G>C ENST00000370752.4 + 11 1790 c.1456G>C c.(1456-1458)Gaa>Caa p.E486Q DDX26B_ENST00000493637.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 486 large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) TAGACTGACAGAATTGAACAC 0.343000 4 50 0 0 1 0 0 CLIC1 1192 broad.mit.edu 37 6 31701363 31701363 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:31701363G>A ENST00000375780.2 - 5 934 c.362C>T c.(361-363)tCa>tTa p.S121L CLIC1_ENST00000375779.2_Missense_Mutation_p.S121L|CLIC1_ENST00000395892.1_Missense_Mutation_p.S121L|CLIC1_ENST00000375784.3_Missense_Mutation_p.S121L O00299 CLIC1_HUMAN chloride intracellular channel 1 121 GST C-terminal. signal transduction brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction protein binding|voltage-gated chloride channel activity central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1) 7 TGCTGGGTTTGAATTCTTGAT 0.537000 5 51 0 0 1 0 0 PEX5 5830 broad.mit.edu 37 12 7344263 7344263 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:7344263G>A ENST00000266563.5 + 5 598 c.415G>A c.(415-417)Gac>Aac p.D139N PEX5_ENST00000266564.3_Missense_Mutation_p.D139N|PEX5_ENST00000412720.2_Missense_Mutation_p.D160N|PEX5_ENST00000545220.1_3'UTR|PEX5_ENST00000420616.2_Missense_Mutation_p.D139N|PEX5_ENST00000434354.2_Missense_Mutation_p.D154N|PEX5_ENST00000455147.2_Missense_Mutation_p.D139N NM_001131024.1 NP_001124496.1 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 139 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 TAATGAGACTGACTGGTCCCA 0.463000 10 88 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78359574 78359574 + Nonsense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr5:78359574C>T ENST00000255189.3 - 2 166 c.138G>A c.(136-138)tgG>tgA p.W46* DMGDH_ENST00000520388.1_Intron|DMGDH_ENST00000380311.4_Missense_Mutation_p.E2K|DMGDH_ENST00000540686.1_5'UTR NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 46 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) CTCTGTCTTTCCATTGTGTTT 0.463000 7 133 0 0 1 0 0 TTC17 55761 broad.mit.edu 37 11 43436179 43436179 + Missense_Mutation SNP C C G rs112155488 TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:43436179C>G ENST00000039989.4 + 16 2118 c.2104C>G c.(2104-2106)Ctg>Gtg p.L702V TTC17_ENST00000299240.6_Missense_Mutation_p.L702V|TTC17_ENST00000526774.1_3'UTR NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 702 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 TTACCTTGCTCTGAAGAATAT 0.403000 13 221 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133894785 133894785 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr8:133894785G>A ENST00000220616.4 + 7 857 c.817G>A c.(817-819)Gaa>Aaa p.E273K TG_ENST00000377869.1_Missense_Mutation_p.E273K NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 273 Thyroglobulin type-1 3. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity p.E273*(1) NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CACCTTCACTGAAACCACCCT 0.463000 8 210 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32376538 32376538 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr13:32376538C>T ENST00000298386.2 + 18 2332 c.2261C>T c.(2260-2262)tCc>tTc p.S754F RXFP2_ENST00000380314.1_Missense_Mutation_p.S730F NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 754 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) AAACCAGTTTCCTAGCAATCA 0.403000 7 398 0 0 1 0 0 CEBPA 1050 broad.mit.edu 37 19 33792385 33792385 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:33792385C>T ENST00000498907.2 - 1 1085 c.936G>A c.(934-936)caG>caA p.Q312Q CTD-2540B15.7_ENST00000587312.1_RNA NM_004364.3 NP_004355.2 P49715 CEBPA_HUMAN CCAAT/enhancer binding protein (C/EBP), alpha 312 cytokine-mediated signaling pathway|generation of precursor metabolites and energy|interspecies interaction between organisms|positive regulation of transcription from RNA polymerase III promoter sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding p.Q312_K313insQ(19)|p.Q312del(3)|p.H200_K352>Q(1)|p.?(1)|p.K313fs*6(1)|p.N307_Q312del(1)|p.Q312_K313insQRNVETQQ(1)|p.Q312_K313insQQ(1)|p.K313del(1) cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1) 920 Esophageal squamous(110;0.137) CCAGCACCTTCTGCTGCGTCT 0.647000 """Mis, N, F""" """AML, MDS""" Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation 6 81 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7808456 7808456 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:7808456G>C ENST00000380358.4 + 26 4289 c.4288G>C c.(4288-4290)Gat>Cat p.D1430H CHD3_ENST00000358181.4_Missense_Mutation_p.D1371H|CHD3_ENST00000330494.7_Missense_Mutation_p.D1371H NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1371 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) AGAGGAGGAGGATGAAGACTT 0.537000 4 93 0 0 1 0 0 PROX2 283571 broad.mit.edu 37 14 75323591 75323591 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr14:75323591G>A ENST00000556084.2 - 2 839 c.840C>T c.(838-840)gtC>gtT p.V280V PROX2_ENST00000556489.2_Silent_p.V507V|PROX2_ENST00000445876.1_Silent_p.V507V NM_001080408.2 NP_001073877.2 Q3B8N5 PROX2_HUMAN prospero homeobox 2 507 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) TGGGATTTGTGACACCATCTG 0.418000 8 144 0 0 1 0 0 HAVCR2 84868 broad.mit.edu 37 5 156533909 156533909 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr5:156533909G>A ENST00000307851.4 - 2 853 c.123C>T c.(121-123)acC>acT p.T41T CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Silent_p.T41T|HAVCR2_ENST00000517358.1_5'UTR NM_032782.4 NP_116171.3 Q8TDQ0 HAVR2_HUMAN hepatitis A virus cellular receptor 2 41 Ig-like V-type. 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) GGGCGGCTGGGGTGTAGAAGC 0.577000 5 130 0 0 1 0 0 DCLK1 9201 broad.mit.edu 37 13 36384994 36384994 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr13:36384994G>C ENST00000255448.4 - 12 1877 c.1666C>G c.(1666-1668)Cca>Gca p.P556A DCLK1_ENST00000379893.1_Missense_Mutation_p.P249A|DCLK1_ENST00000360631.3_Missense_Mutation_p.P556A NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 556 Protein kinase. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) ATGATTTCTGGAGCCACGTAT 0.483000 15 223 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433207 55433207 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:55433207G>A ENST00000314259.3 + 1 594 c.565G>A c.(565-567)Gac>Aac p.D189N NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TGCCTGCACGGACACCCACAT 0.433000 31 182 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51791702 51791702 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr15:51791702G>C ENST00000251076.5 - 18 4006 c.3719C>G c.(3718-3720)tCt>tGt p.S1240C DMXL2_ENST00000543779.2_Missense_Mutation_p.S1240C|DMXL2_ENST00000449909.3_Intron NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1240 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) ATCAACAGAAGATACCAAGTC 0.418000 9 134 0 0 1 0 0 EXOC2 55770 broad.mit.edu 37 6 549252 549252 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:549252G>C ENST00000230449.4 - 22 2296 c.2161C>G c.(2161-2163)Cta>Gta p.L721V EXOC2_ENST00000448181.3_Missense_Mutation_p.L316V NM_018303.4 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 721 exocytosis|protein transport breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) TGACGTTCTAGATAGCAGCAA 0.378000 13 155 0 0 1 0 0 C22orf43 51233 broad.mit.edu 37 22 23974145 23974145 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr22:23974145G>A ENST00000317749.5 - 1 363 c.66C>T c.(64-66)ccC>ccT p.P22P AP000346.2_ENST00000390329.2_RNA NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 22 endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 ATTCATAACAGGGTGCGTCCT 0.547000 5 120 0 0 1 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88913261 88913261 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:88913261G>A ENST00000303236.3 - 2 720 c.419C>T c.(418-420)tCc>tTc p.S140F EIF2AK3_ENST00000419748.1_5'UTR NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 140 activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 GCTAAGGCTGGATGACACCAA 0.398000 5 125 0 0 1 0 0 CYP27B1 1594 broad.mit.edu 37 12 58160810 58160810 + Silent SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:58160810G>C ENST00000228606.4 - 1 224 c.15C>G c.(13-15)ctC>ctG p.L5L RP11-571M6.13_ENST00000546609.1_RNA NM_000785.3 NP_000776.1 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, polypeptide 1 5 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) AGGCGTACTTGAGGGTCTGGG 0.587000 7 163 0 0 1 0 0 RIF1 55183 broad.mit.edu 37 2 152301876 152301876 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:152301876G>A ENST00000243326.4 + 18 2494 c.2011G>A c.(2011-2013)Gcc>Acc p.A671T RIF1_ENST00000444746.2_Missense_Mutation_p.A671T|RIF1_ENST00000430328.2_Missense_Mutation_p.A671T|RIF1_ENST00000428287.2_Missense_Mutation_p.A671T|RIF1_ENST00000453091.2_Missense_Mutation_p.A671T Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 671 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) TCAAGGTGATGCCTTAGAACA 0.313000 6 63 0 0 1 0 0 ZNF528 84436 broad.mit.edu 37 19 52918855 52918855 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:52918855C>T ENST00000360465.3 + 7 1176 c.750C>T c.(748-750)ttC>ttT p.F250F ZNF528_ENST00000391788.2_3'UTR NM_032423.2 NP_115799.2 Q3MIS6 ZN528_HUMAN zinc finger protein 528 250 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) GCAAGCTCTTCAGTAGCAATT 0.398000 6 129 0 0 1 0 0 SPATC1 375686 broad.mit.edu 37 8 145094865 145094865 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr8:145094865G>A ENST00000377470.3 + 2 369 c.267G>A c.(265-267)gtG>gtA p.V89V SPATC1_ENST00000447830.2_Silent_p.V89V NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 89 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCGAAGAAGTGGGGATCATGG 0.637000 11 108 0 0 1 0 0 NXF5 55998 broad.mit.edu 37 X 101092466 101092466 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chrX:101092466C>G ENST00000537026.1 - 15 1439 c.1080G>C c.(1078-1080)caG>caC p.Q360H NXF5_ENST00000473265.2_Missense_Mutation_p.Q360H|NXF5_ENST00000361708.2_Missense_Mutation_p.Q360H NM_032946.2 NP_116564.2 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 360 NTF2; truncated. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 CTACCCACCTCTGGCTCTCTG 0.547000 18 134 0 0 1 0 0 LRRC37BP1 147172 broad.mit.edu 37 17 28961071 28961071 + RNA SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:28961071G>C ENST00000417404.1 + 0 1329 LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA CAATATCTGTGACTGTCATAC 0.254000 4 56 0 0 1 0 0 GALNT7 51809 broad.mit.edu 37 4 174242759 174242759 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:174242759C>T ENST00000265000.4 + 12 1948 c.1865C>T c.(1864-1866)tCa>tTa p.S622L NM_017423.2 NP_059119.2 Q86SF2 GALT7_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) 622 Ricin B-type lectin. protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9) 19 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199) CATATTCCTTCAGGAAAGTGT 0.373000 6 93 0 0 1 0 0 USP8 9101 broad.mit.edu 37 15 50790857 50790857 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr15:50790857C>G ENST00000433963.1 + 20 3603 c.3103C>G c.(3103-3105)Ctt>Gtt p.L1035V USP8_ENST00000307179.4_Missense_Mutation_p.L1035V|RP11-562A8.4_ENST00000560380.1_RNA|USP8_ENST00000396444.3_Missense_Mutation_p.L1035V|USP8_ENST00000425032.3_Missense_Mutation_p.L929V NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 1035 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) GTTAGAAAATCTTGACTTGTC 0.343000 4 134 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152277637 152277637 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:152277637G>A ENST00000368799.1 - 3 9760 c.9725C>T c.(9724-9726)tCt>tTt p.S3242F FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3242 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCCTGAACAGATCCACGATG 0.592000 Ichthyosis 24 428 0 0 1 0 0 GPR113 165082 broad.mit.edu 37 2 26533860 26533860 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:26533860C>T ENST00000333478.6 - 8 2721 c.2139G>A c.(2137-2139)ctG>ctA p.L713L GPR113_ENST00000421160.2_Silent_p.L843L|GPR113_ENST00000311519.1_Silent_p.L912L|GPR113_ENST00000541401.1_Silent_p.L515L|GPR113_ENST00000459892.1_5'UTR NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 912 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCCCTCCCTCAGGTATTGCC 0.612000 3 28 0 0 1 0 0 BMPR2 659 broad.mit.edu 37 2 203383743 203383743 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:203383743G>C ENST00000374580.4 + 6 1359 c.820G>C c.(820-822)Gaa>Caa p.E274Q BMPR2_ENST00000374574.2_Missense_Mutation_p.E274Q NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 274 Protein kinase. anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 TGGACGCATGGAATATTTGCT 0.418000 9 141 0 0 1 0 0 IGSF22 283284 broad.mit.edu 37 11 18731033 18731033 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:18731033C>G ENST00000513874.1 - 18 3038 c.2899G>C c.(2899-2901)Gag>Cag p.E967Q RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 866 NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 TTCTGCCTCTCGATGAGTCCT 0.567000 5 95 0 0 1 0 0 DDTL 100037417 broad.mit.edu 37 22 24313562 24313562 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr22:24313562G>C ENST00000215770.5 + 3 386 c.372G>C c.(370-372)ttG>ttC p.L124F DDT_ENST00000398344.4_3'UTR|DDT_ENST00000350608.3_3'UTR NM_001084393.1 NP_001077862.1 A6NHG4 DDTL_HUMAN D-dopachrome tautomerase-like 124 cytoplasm lyase activity kidney(1)|urinary_tract(1) 2 AGTCATGTTTGAATGAGGAAG 0.473000 4 60 0 0 1 0 0 CCT7 10574 broad.mit.edu 37 2 73476281 73476281 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:73476281G>A ENST00000539919.1 + 9 1185 c.814G>A c.(814-816)Gag>Aag p.E272K CCT7_ENST00000398422.2_Missense_Mutation_p.E112K|CCT7_ENST00000258091.5_Missense_Mutation_p.E316K|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000540468.1_Missense_Mutation_p.E229K|CCT7_ENST00000538797.1_Missense_Mutation_p.E188K|CCT7_ENST00000537131.1_Missense_Mutation_p.E216K NM_001166285.1 NP_001159757.1 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 (eta) 316 'de novo' posttranslational protein folding ATP binding|unfolded protein binding breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1) 7 CCGAGTACCTGAGGAGGATCT 0.517000 4 65 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57194303 57194303 + Silent SNP G G T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr7:57194303G>T ENST00000331162.4 - 3 432 c.162C>A c.(160-162)tcC>tcA p.S54S NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 54 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) CCTCACCCAGGGAGACCAGGT 0.363000 5 211 0.00116845 0.00118379 1 1 0 SPTAN1 6709 broad.mit.edu 37 9 131348158 131348158 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr9:131348158G>A ENST00000372739.3 + 19 2802 c.2692G>A c.(2692-2694)Gat>Aat p.D898N SPTAN1_ENST00000372731.4_Missense_Mutation_p.D898N|SPTAN1_ENST00000358161.5_Missense_Mutation_p.D898N NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 898 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GTACTTTGCTGATGCTAACGA 0.572000 11 82 0 0 1 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166889325 166889325 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:166889325C>G ENST00000366863.2 - 11 1127 c.448G>C c.(448-450)Gag>Cag p.E150Q RPS6KA2_ENST00000405189.3_Intron|RPS6KA2_ENST00000265678.4_Intron|RPS6KA2_ENST00000510118.1_Intron|RPS6KA2_ENST00000503859.1_Intron|RPS6KA2_ENST00000481261.2_Intron Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 2 0 Protein kinase 1. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) GCCGTTTTCTCACCTGCAGAG 0.483000 5 76 0 0 1 0 0 TMPRSS11A 339967 broad.mit.edu 37 4 68812202 68812202 + Silent SNP C C A rs147036994 TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:68812202C>A ENST00000508048.1 - 2 131 c.96G>T c.(94-96)gtG>gtT p.V32V TMPRSS11A_ENST00000334830.7_Silent_p.V33V|TMPRSS11A_ENST00000396188.2_Silent_p.V33V|RP11-453E17.1_ENST00000500538.2_RNA Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A 33 cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 GACCTATGGTCACTGCCACCA 0.408000 7 79 5.4927e-09 5.6282e-09 1 1 0 NPTX1 4884 broad.mit.edu 37 17 78447056 78447056 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:78447056C>G ENST00000306773.4 - 3 998 c.841G>C c.(841-843)Gag>Cag p.E281Q NM_002522.3 NP_002513.2 Q15818 NPTX1_HUMAN neuronal pentraxin I 281 Pentaxin. central nervous system development|synaptic transmission|transport transport vesicle metal ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1) 11 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487) AGGACCAGCTCGTTGGCCTGG 0.642000 8 115 0 0 1 0 0 FANCI 55215 broad.mit.edu 37 15 89843085 89843085 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr15:89843085G>A ENST00000310775.7 + 25 2777 c.2691G>A c.(2689-2691)aaG>aaA p.K897K FANCI_ENST00000300027.8_Silent_p.K837K NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 897 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) AGTCGGGAAAGAAAGAGAAAG 0.428000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 9 79 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1649519 1649519 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr8:1649519G>A ENST00000421627.2 + 12 3009 c.2875G>A c.(2875-2877)Gag>Aag p.E959K NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 1038 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) TTCCGCCTCCGAGCGCGCGGA 0.687000 3 13 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74631794 74631794 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr18:74631794G>A ENST00000253159.8 + 20 3529 c.3331G>A c.(3331-3333)Gag>Aag p.E1111K ZNF236_ENST00000320610.9_Missense_Mutation_p.E1113K NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 1111 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GTCTCGTCCTGAGGTCATCAC 0.517000 11 163 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29220954 29220954 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:29220954G>C ENST00000321990.4 + 21 5461 c.5083G>C c.(5083-5085)Gag>Cag p.E1695Q NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1695 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GTTTAGTCTTGAGAGTAATGA 0.368000 5 111 0 0 1 0 0 TCFL5 10732 broad.mit.edu 37 20 61492825 61492825 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr20:61492825C>T ENST00000335351.3 - 1 290 c.198G>A c.(196-198)gaG>gaA p.E66E TCFL5_ENST00000217162.5_Silent_p.E18E NM_006602.2 NP_006593.2 Q9UL49 TCFL5_HUMAN transcription factor-like 5 (basic helix-loop-helix) 66 cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1) 9 Breast(26;5.68e-08) CAGCCGCCGCCTCCATGTGCG 0.736000 4 26 0 0 1 0 0 GBE1 2632 broad.mit.edu 37 3 81695605 81695605 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:81695605G>A ENST00000429644.2 - 6 1363 c.720C>T c.(718-720)atC>atT p.I240I GBE1_ENST00000489715.1_Silent_p.I199I NM_000158.3 NP_000149.3 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 240 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) CATGCTCCATGATTGCCATCA 0.348000 Glycogen Storage Disease, type IV 11 120 0 0 1 0 0 TRPC4AP 26133 broad.mit.edu 37 20 33632354 33632354 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr20:33632354C>T ENST00000252015.2 - 7 908 c.819G>A c.(817-819)caG>caA p.Q273Q TRPC4AP_ENST00000451813.1_Silent_p.Q273Q|TRPC4AP_ENST00000432634.2_Silent_p.Q234Q Q8TEL6 TP4AP_HUMAN transient receptor potential cation channel, subfamily C, member 4 associated protein 273 Interaction with TNFRSF1A (By similarity). protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(18;0.00936) AGCTCTTCTTCTGTTGAGCAT 0.448000 14 130 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37732103 37732103 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr8:37732103C>G ENST00000330843.4 - 3 1564 c.1552G>C c.(1552-1554)Gag>Cag p.E518Q RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.E370Q|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.E370Q|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.E518Q NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 518 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) GACTTGGACTCTGGCTCAGCT 0.542000 6 88 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185984368 185984368 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:185984368G>A ENST00000271588.4 + 31 4937 c.4708G>A c.(4708-4710)Gaa>Aaa p.E1570K HMCN1_ENST00000367492.2_Missense_Mutation_p.E1570K NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1570 Ig-like C2-type 13. E -> K (in Ref. 1). response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ACTGGAATGTGAAACACGGGG 0.398000 5 85 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27057874 27057874 + Nonsense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:27057874C>T ENST00000324856.7 + 3 1953 c.1582C>T c.(1582-1584)Cag>Tag p.Q528* ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q528*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q145* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 528 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) GCCTCCACATCAGCAGTCCCC 0.617000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 15 258 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64602837 64602837 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:64602837C>T ENST00000342711.5 - 16 1934 c.1935G>A c.(1933-1935)ctG>ctA p.L645L NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 645 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 GCTCCCGGCTCAGCCTCCGGT 0.657000 24 380 0 0 1 0 0 FAM57A 79850 broad.mit.edu 37 17 644738 644738 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:644738C>T ENST00000308278.8 + 5 938 c.702C>T c.(700-702)atC>atT p.I234I FAM57A_ENST00000301324.8_Silent_p.I202I NM_024792.1 NP_079068.1 Q8TBR7 FA57A_HUMAN family with sequence similarity 57, member A 234 TLC. integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2) 10 UCEC - Uterine corpus endometrioid carcinoma (25;0.0217) CTCCTCAGATCTACTGGTTCT 0.567000 6 85 0 0 1 0 0 GPR123 84435 broad.mit.edu 37 10 134896174 134896174 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr10:134896174G>A ENST00000607359.1 + 6 1260 c.1260G>A c.(1258-1260)ctG>ctA p.L420L Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) GCCTTGGCCTGAGGTGGGCAT 0.622000 4 27 0 0 1 0 0 RPL32P3 132241 broad.mit.edu 37 3 129116038 129116038 + RNA SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:129116038C>T ENST00000514355.1 - 0 412 lung(1) 1 GAGGCTTTCCCGCCCAGGGAC 0.567000 6 166 0 0 1 0 0 HMGCL 3155 broad.mit.edu 37 1 24129001 24129001 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:24129001C>T ENST00000374483.4 - 10 1526 c.855G>A c.(853-855)ctG>ctA p.L285L HMGCL_ENST00000374490.3_Silent_p.L310L|HMGCL_ENST00000436439.2_Silent_p.L239L P35914 HMGCL_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase 310 acetoacetic acid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA lyase activity|metal ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188) TTTTTCTGTTCAGGGCTTGAC 0.498000 7 124 0 0 1 0 0 GLDC 2731 broad.mit.edu 37 9 6606647 6606647 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr9:6606647G>C ENST00000321612.6 - 5 808 c.658C>G c.(658-660)Ctc>Gtc p.L220V NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 220 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) GGATCAACGAGAAATTTCCTC 0.373000 5 152 0 0 1 0 0 DIXDC1 85458 broad.mit.edu 37 11 111887438 111887438 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:111887438C>G ENST00000440460.2 + 19 2074 c.1777C>G c.(1777-1779)Cca>Gca p.P593A DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Missense_Mutation_p.P382A NM_001037954.2 NP_001033043.1 Q155Q3 DIXC1_HUMAN DIX domain containing 1 594 multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 17 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) ACAGAGCTCTCCAACTGTCAG 0.453000 3 27 0 0 1 0 0 GPM6B 2824 broad.mit.edu 37 X 13794420 13794420 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chrX:13794420G>C ENST00000454189.2 - 6 724 c.597C>G c.(595-597)ttC>ttG p.F199L GPM6B_ENST00000356942.5_Missense_Mutation_p.F218L|GPM6B_ENST00000493677.1_Missense_Mutation_p.F232L|GPM6B_ENST00000398361.3_Missense_Mutation_p.F132L|GPM6B_ENST00000316715.4_Missense_Mutation_p.F258L|GPM6B_ENST00000355135.2_Missense_Mutation_p.F258L NM_001001994.1 NP_001001994.1 Q13491 GPM6B_HUMAN glycoprotein M6B 218 cell differentiation|nervous system development integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1) 6 AGGACATGTAGAACTACAAAA 0.493000 6 61 0 0 1 0 0 LBH 81606 broad.mit.edu 37 2 30457343 30457343 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:30457343C>T ENST00000395323.3 + 2 307 c.99C>T c.(97-99)ctC>ctT p.L33L LBH_ENST00000467242.1_3'UTR|LBH_ENST00000401506.1_Silent_p.L39L|LBH_ENST00000404397.1_Silent_p.L33L|LBH_ENST00000407930.2_Silent_p.L16L|LBH_ENST00000406087.1_Silent_p.L33L NM_030915.3 NP_112177.2 Q53QV2 LBH_HUMAN limb bud and heart development 33 multicellular organismal development|transcription, DNA-dependent cytoplasm|nucleolus endometrium(2)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(172;0.155) AGATCGGCCTCAGCCCCCGCA 0.557000 6 76 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129070703 129070703 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr5:129070703G>A ENST00000274487.4 + 22 3518 c.3373G>A c.(3373-3375)Gaa>Aaa p.E1125K CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 1125 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) ACATGGAAATGAATGTTTTTC 0.418000 6 97 0 0 1 0 0 TMEM108 66000 broad.mit.edu 37 3 133099627 133099627 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:133099627G>A ENST00000515826.1 + 3 1195 c.1072G>A c.(1072-1074)Ggg>Agg p.G358R TMEM108_ENST00000393130.3_Missense_Mutation_p.G358R|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Missense_Mutation_p.G358R Q6UXF1 TM108_HUMAN transmembrane protein 108 358 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GGCTGCCACGGGGCCCACCCC 0.622000 5 84 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61502369 61502369 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:61502369C>T ENST00000257215.5 + 10 1139 c.1023C>T c.(1021-1023)atC>atT p.I341I NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 341 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) GAGTCACCATCGAGGAAGACA 0.602000 27 230 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49754123 49754123 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:49754123C>T ENST00000304801.3 - 1 930 c.778G>A c.(778-780)Gaa>Aaa p.E260K NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 260 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) GCTCCCTCTTCATCAAACAGG 0.403000 5 211 0 0 1 0 0 TLR3 7098 broad.mit.edu 37 4 187004931 187004931 + Silent SNP A A G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:187004931A>G ENST00000296795.2 + 4 2195 c.2091A>G c.(2089-2091)aaA>aaG p.K697K TLR3_ENST00000504367.1_Silent_p.K420K NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 697 LRRCT. activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) CATCTTGCAAAGACAGTGCCC 0.428000 43 318 0 0 1 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49320677 49320677 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr15:49320677C>T ENST00000559471.1 - 5 1130 c.867G>A c.(865-867)ttG>ttA p.L289L SECISBP2L_ENST00000261847.3_Silent_p.L289L NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 289 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 CAGGATTTCTCAAAGCCCCTG 0.438000 6 91 0 0 1 0 0 KRT18 3875 broad.mit.edu 37 12 53346617 53346617 + Silent SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr12:53346617G>C ENST00000388835.3 + 7 1494 c.1284G>C c.(1282-1284)ctG>ctC p.L428L KRT18_ENST00000388837.2_Silent_p.L428L NM_000224.2 NP_000215.1 P05783 K1C18_HUMAN keratin 18 428 Tail. anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 11 CCAAAGTTCTGAGGCATTAAG 0.493000 7 73 0 0 1 0 0 FANCI 55215 broad.mit.edu 37 15 89843089 89843089 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr15:89843089G>A ENST00000310775.7 + 25 2781 c.2695G>A c.(2695-2697)Gag>Aag p.E899K FANCI_ENST00000300027.8_Missense_Mutation_p.E839K NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 899 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) GGGAAAGAAAGAGAAAGGAAA 0.423000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 10 84 0 0 1 0 0 GALNT15 117248 broad.mit.edu 37 3 16254169 16254169 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:16254169G>A ENST00000339732.5 + 6 1794 c.1291G>A c.(1291-1293)Gag>Aag p.E431K GALNT15_ENST00000437509.1_Missense_Mutation_p.E431K NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 CCTCGACCAGGAGGCCACCCT 0.557000 7 101 0 0 1 0 0 MAP3K3 4215 broad.mit.edu 37 17 61767679 61767679 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:61767679C>T ENST00000361357.3 + 13 1530 c.1212C>T c.(1210-1212)ttC>ttT p.F404F MAP3K3_ENST00000577395.1_Silent_p.F369F|MAP3K3_ENST00000361733.3_Silent_p.F373F|MAP3K3_ENST00000579585.1_Silent_p.F404F|MAP3K3_ENST00000584573.1_Silent_p.F400F NM_203351.1 NP_976226.1 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 373 Protein kinase. MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 AGGGTGCCTTCGGCAGGGTCT 0.527000 11 117 0 0 1 0 0 ATF6B 1388 broad.mit.edu 37 6 32085106 32085106 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:32085106C>T ENST00000375201.4 - 14 1644 c.1599G>A c.(1597-1599)gaG>gaA p.E533E ATF6B_ENST00000375203.3_Silent_p.E536E Q99941 ATF6B_HUMAN activating transcription factor 6 beta 536 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 CTACCTGTCTCTCCTGGGCCC 0.597000 5 36 0 0 1 0 0 PFKP 5214 broad.mit.edu 37 10 3154456 3154456 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr10:3154456G>C ENST00000381075.2 + 13 1332 c.1108G>C c.(1108-1110)Gat>Cat p.D370H PFKP_ENST00000381125.4_Missense_Mutation_p.D378H NM_001242339.1 NP_001229268.1 Q01813 K6PP_HUMAN phosphofructokinase, platelet 378 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) GAGATTTCAAGATGCGGTTCG 0.512000 5 73 0 0 1 0 0 TRIM27 5987 broad.mit.edu 37 6 28872323 28872323 + Missense_Mutation SNP G G T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:28872323G>T ENST00000377199.3 - 8 1422 c.1066C>A c.(1066-1068)Ctg>Atg p.L356M TRIM27_ENST00000377194.3_Intron NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 356 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 CAGGGAAACAGATTGAACCTC 0.542000 T RET papillary thyroid 10 45 0.00621372 0.00627179 1 1 0 OR4K1 79544 broad.mit.edu 37 14 20404108 20404108 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr14:20404108G>C ENST00000285600.4 + 1 342 c.283G>C c.(283-285)Gag>Cag p.E95Q NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TATCTCCTTTGAGGGTTGCAT 0.403000 5 442 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66951592 66951592 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr16:66951592C>T ENST00000299752.4 - 3 275 c.82G>A c.(82-84)Gaa>Aaa p.E28K CDH16_ENST00000565796.1_Missense_Mutation_p.E28K|CDH16_ENST00000568632.1_Missense_Mutation_p.E28K|CDH16_ENST00000570262.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.E28K NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 28 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TCTGGAACTTCCACAGACAGC 0.582000 4 22 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119133435 119133435 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:119133435G>C ENST00000264245.4 + 12 3191 c.2659G>C c.(2659-2661)Gac>Cac p.D887H NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 887 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 GGAGCCTTCAGACTGTGACGA 0.552000 4 106 0 0 1 0 0 CAPN2 824 broad.mit.edu 37 1 223943283 223943283 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:223943283C>G ENST00000295006.5 + 10 1546 c.1237C>G c.(1237-1239)Cag>Gag p.Q413E CAPN2_ENST00000433674.2_Missense_Mutation_p.Q335E NM_001748.4 NP_001739.2 P17655 CAN2_HUMAN calpain 2, (m/II) large subunit 413 Domain III. proteolysis cytoplasm|plasma membrane breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) GGGGCTCATTCAGAAGCACCG 0.607000 4 35 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4937178 4937178 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr16:4937178C>G ENST00000345988.2 - 21 2654 c.2565G>C c.(2563-2565)caG>caC p.Q855H PPL_ENST00000590782.2_Missense_Mutation_p.Q853H NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 855 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TCTGCAGCCTCTGTCTGTTGA 0.463000 17 275 0 0 1 0 0 SEC31A 22872 broad.mit.edu 37 4 83784530 83784530 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:83784530C>T ENST00000432794.1 - 12 1613 c.1450G>A c.(1450-1452)Gat>Aat p.D484N SEC31A_ENST00000508479.1_Missense_Mutation_p.D484N|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000326950.5_Missense_Mutation_p.D484N|SEC31A_ENST00000505472.1_Missense_Mutation_p.D484N|SEC31A_ENST00000448323.1_Missense_Mutation_p.D484N|SEC31A_ENST00000505984.1_Missense_Mutation_p.D484N|SEC31A_ENST00000508502.1_Missense_Mutation_p.D484N|SEC31A_ENST00000395310.2_Missense_Mutation_p.D484N|SEC31A_ENST00000355196.2_Missense_Mutation_p.D484N|SEC31A_ENST00000264405.5_Missense_Mutation_p.D256N|SEC31A_ENST00000443462.2_Missense_Mutation_p.D479N|SEC31A_ENST00000348405.4_Missense_Mutation_p.D484N|SEC31A_ENST00000500777.2_Missense_Mutation_p.D484N|SEC31A_ENST00000311785.7_Missense_Mutation_p.D484N|SEC31A_ENST00000513858.1_Missense_Mutation_p.D484N|SEC31A_ENST00000509142.1_Missense_Mutation_p.D484N O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 484 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) CCACGAGAATCATCCTCAAAG 0.308000 7 138 0 0 1 0 0 FAM13B 51306 broad.mit.edu 37 5 137342716 137342716 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr5:137342716C>T ENST00000033079.3 - 7 1262 c.811G>A c.(811-813)Gaa>Aaa p.E271K FAM13B_ENST00000420893.2_Missense_Mutation_p.E271K|FAM13B_ENST00000425075.2_Missense_Mutation_p.E153K NM_016603.2 NP_057687.2 Q9NYF5 FA13B_HUMAN family with sequence similarity 13, member B 271 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(4)|kidney(2)|lung(5) 11 AGGATGTTTTCAGTCATCCTT 0.378000 7 136 0 0 1 0 0 ARMC7 79637 broad.mit.edu 37 17 73106605 73106605 + Missense_Mutation SNP C C A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr17:73106605C>A ENST00000245543.1 + 2 441 c.139C>A c.(139-141)Ccc>Acc p.P47T ARMC7_ENST00000582136.1_Missense_Mutation_p.P47T|ARMC7_ENST00000581078.1_Missense_Mutation_p.P47T|ARMC7_ENST00000584947.1_Missense_Mutation_p.P47T NM_024585.2 NP_078861.1 Q9H6L4 ARMC7_HUMAN armadillo repeat containing 7 47 binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3) 9 all_lung(278;0.14)|Lung NSC(278;0.168) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) CGCTTATGACCCCAGCAACTA 0.577000 7 96 0.000157383 0.000160051 1 1 0 WHAMMP3 339005 broad.mit.edu 37 15 23205193 23205193 + RNA SNP A A G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr15:23205193A>G ENST00000400153.2 - 0 661 NR_003521.1 GGTGTCCTTGAATAACCTAGA 0.398000 3 28 0 0 1 0 0 ECD 11319 broad.mit.edu 37 10 74914175 74914175 + Nonsense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr10:74914175G>A ENST00000372979.4 - 6 828 c.622C>T c.(622-624)Cga>Tga p.R208* ECD_ENST00000430082.1_Nonsense_Mutation_p.R208*|ECD_ENST00000454759.1_Nonsense_Mutation_p.R208* NM_007265.2 NP_009196.1 O95905 SGT1_HUMAN ecdysoneless homolog (Drosophila) 208 regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus transcription coactivator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(51;0.0119) CAGTGTGCTCGATGAAGTGAG 0.443000 5 63 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8656945 8656945 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:8656945C>T ENST00000270328.4 - 13 1896 c.1630G>A c.(1630-1632)Gag>Aag p.E544K ADAMTS10_ENST00000595838.1_Silent_p.Q34Q|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E544K Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 544 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 TCCACACCCTCTGGGCGCGAC 0.687000 4 56 0 0 1 0 0 SLC39A10 57181 broad.mit.edu 37 2 196571476 196571476 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:196571476G>A ENST00000409086.3 + 4 1628 c.1353G>A c.(1351-1353)atG>atA p.M451I SLC39A10_ENST00000541054.1_Start_Codon_SNP_p.M1I|SLC39A10_ENST00000359634.5_Missense_Mutation_p.M451I NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 451 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) TAGGAACAATGAGTGGAGACG 0.368000 15 157 0 0 1 0 0 EPB41L5 57669 broad.mit.edu 37 2 120885271 120885271 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:120885271C>T ENST00000263713.5 + 17 1559 c.1345C>T c.(1345-1347)Ctg>Ttg p.L449L EPB41L5_ENST00000452780.1_Silent_p.L449L|EPB41L5_ENST00000443902.2_Silent_p.L449L NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 449 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 CAGCATTCCTCTGAATATTGA 0.373000 8 189 0 0 1 0 0 ZNF660 285349 broad.mit.edu 37 3 44635767 44635767 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:44635767G>A ENST00000322734.2 + 3 415 c.82G>A c.(82-84)Gaa>Aaa p.E28K RP11-944L7.4_ENST00000457331.1_RNA NM_173658.2 NP_775929.2 Q6AZW8 ZN660_HUMAN zinc finger protein 660 28 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) CCAAGAATCTGAAAAAGACAA 0.393000 6 88 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114276810 114276810 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr4:114276810G>C ENST00000357077.4 + 38 7089 c.7036G>C c.(7036-7038)Gag>Cag p.E2346Q ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E2313Q|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2313 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ACTGACTGAGGAGGCAGCCTG 0.488000 4 47 0 0 1 0 0 IQGAP3 128239 broad.mit.edu 37 1 156502888 156502888 + Silent SNP G G A rs139057334 TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:156502888G>A ENST00000361170.2 - 32 3997 c.3987C>T c.(3985-3987)atC>atT p.I1329I NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1329 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CATCTGCAGCGATGCTCTCAC 0.547000 17 148 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216274733 216274733 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:216274733G>A ENST00000354785.4 - 14 2415 c.2046C>T c.(2044-2046)atC>atT p.I682I FN1_ENST00000323926.6_Silent_p.I682I|FN1_ENST00000345488.5_Silent_p.I682I|FN1_ENST00000336916.4_Silent_p.I682I|FN1_ENST00000357009.2_Silent_p.I682I|FN1_ENST00000446046.1_Silent_p.I682I|FN1_ENST00000432072.2_Silent_p.I682I|FN1_ENST00000443816.1_Silent_p.I682I|FN1_ENST00000346544.3_Silent_p.I682I|FN1_ENST00000359671.1_Silent_p.I682I|FN1_ENST00000357867.4_Silent_p.I682I|FN1_ENST00000421182.1_Silent_p.I682I|FN1_ENST00000356005.4_Silent_p.I682I P02751 FINC_HUMAN fibronectin 1 682 Fibronectin type-III 1. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTGGATGCTGATGAGCTGGC 0.537000 7 140 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23543349 23543349 + Nonsense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:23543349G>C ENST00000300619.7 - 4 2637 c.2432C>G c.(2431-2433)tCa>tGa p.S811* ZNF91_ENST00000397082.2_Nonsense_Mutation_p.S779*|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 811 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) AGTAAGGGTTGAGGAACGGCT 0.408000 4 128 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118344632 118344632 + Missense_Mutation SNP G G C TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:118344632G>C ENST00000534358.1 + 3 2781 c.2758G>C c.(2758-2760)Gat>Cat p.D920H KMT2A_ENST00000389506.5_Missense_Mutation_p.D920H|KMT2A_ENST00000354520.4_Missense_Mutation_p.D920H NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A p.D920Y(2) TGTTGGTGAAGATGTTGCCAC 0.433000 7 104 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890051 55890051 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:55890051C>T ENST00000313472.3 + 1 203 c.203C>T c.(202-204)tCa>tTa p.S68L NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S68*(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) ACTCACCTGTCATTTATTGAC 0.438000 18 391 0 0 1 0 0 ARFGAP3 26286 broad.mit.edu 37 22 43230262 43230262 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr22:43230262G>A ENST00000263245.5 - 5 682 c.463C>T c.(463-465)Cac>Tac p.H155Y ARFGAP3_ENST00000437119.2_Missense_Mutation_p.H111Y|ARFGAP3_ENST00000429508.2_Intron NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 155 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 GGAGAAACGTGAGAGGCAAAA 0.408000 8 195 0 0 1 0 0 DAXX 1616 broad.mit.edu 37 6 33287244 33287244 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:33287244G>A ENST00000374542.5 - 6 2057 c.1853C>T c.(1852-1854)tCt>tTt p.S618F DAXX_ENST00000414083.2_Missense_Mutation_p.S543F|DAXX_ENST00000266000.6_Missense_Mutation_p.S618F NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 618 Interaction with MAP3K5. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 GTTGTGAGGAGAGACGCCTCC 0.493000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 4 145 0 0 1 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62648292 62648292 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr10:62648292G>A ENST00000337910.5 - 6 1471 c.1134C>T c.(1132-1134)ttC>ttT p.F378F RHOBTB1_ENST00000357917.4_Silent_p.F378F NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 378 BTB 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) GCATGCCAATGAACCCCTTAC 0.557000 6 110 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7812273 7812273 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:7812273C>T ENST00000593660.1 - 1 124 c.25G>A c.(25-27)Gat>Aat p.D9N CD209_ENST00000315591.8_Intron|CD209_ENST00000315599.7_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.D9N|CD209_ENST00000354397.6_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.D9N|CD209_ENST00000394173.4_Intron|CD209_ENST00000204801.8_Intron|CD209_ENST00000602261.1_Intron Q9NNX6 CD209_HUMAN CD209 molecule 0 cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GACGTGAAATCAGAGCCTGGG 0.587000 19 333 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913882 77913882 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chrX:77913882C>T ENST00000321110.1 - 2 331 c.36G>A c.(34-36)ctG>ctA p.L12L NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 12 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 TCTCCAATTTCAGAACAATAT 0.473000 3 23 0 0 1 0 0 SERPINA5 5104 broad.mit.edu 37 14 95058471 95058471 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr14:95058471C>T ENST00000329597.7 + 6 1326 c.1116C>T c.(1114-1116)ttC>ttT p.F372F SERPINA5_ENST00000554276.1_Silent_p.F372F|SERPINA5_ENST00000554866.1_Silent_p.F372F|SERPINA5_ENST00000553780.1_Silent_p.F372F|SERPINA3_ENST00000553947.1_5'UTR NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 372 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) TATTCACTTTCAGGTCGGCCC 0.557000 20 405 0 0 1 0 0 BCO2 83875 broad.mit.edu 37 11 112065459 112065459 + Silent SNP G G T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:112065459G>T ENST00000357685.5 + 5 852 c.717G>T c.(715-717)ggG>ggT p.G239G BCO2_ENST00000532593.1_Silent_p.G134G|BCO2_ENST00000438022.1_Silent_p.G205G|BCO2_ENST00000361053.4_Intron|SDHD_ENST00000532612.1_Intron|BCO2_ENST00000393032.2_Silent_p.G205G|BCO2_ENST00000531169.1_Silent_p.G205G|BCO2_ENST00000526088.1_Silent_p.G205G Q9BYV7 BCDO2_HUMAN beta-carotene oxygenase 2 239 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 ACAATATGGGGAACTCCTTTG 0.393000 7 138 1.12685e-05 1.14811e-05 1 1 0 DLGAP1 9229 broad.mit.edu 37 18 3879988 3879988 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr18:3879988G>A ENST00000315677.3 - 4 676 c.81C>T c.(79-81)tcC>tcT p.S27S DLGAP1_ENST00000581527.1_Silent_p.S27S|DLGAP1_ENST00000584874.1_Silent_p.S27S|DLGAP1_ENST00000515196.2_Silent_p.S27S|DLGAP1-AS3_ENST00000577649.1_RNA NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 27 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) GCTTGCGGTCGGAGTGGTGCG 0.667000 10 70 0 0 1 0 0 C15orf39 56905 broad.mit.edu 37 15 75498768 75498768 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr15:75498768C>G ENST00000360639.2 + 2 699 c.379C>G c.(379-381)Ctg>Gtg p.L127V C15orf39_ENST00000394987.4_Missense_Mutation_p.L127V|C15orf39_ENST00000567617.1_Missense_Mutation_p.L127V Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 127 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 AGGCCCACCACTGGCAGCACC 0.607000 4 41 0 0 1 0 0 MECR 51102 broad.mit.edu 37 1 29542604 29542604 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:29542604C>T ENST00000373791.3 - 3 463 c.91G>A c.(91-93)Gaa>Aaa p.E31K MECR_ENST00000489248.1_5'UTR|MECR_ENST00000263702.6_Missense_Mutation_p.E107K NM_001024732.1|NM_016011.2 NP_001019903.1|NP_057095.2 Q9BV79 MECR_HUMAN mitochondrial trans-2-enoyl-CoA reductase 107 fatty acid biosynthetic process mitochondrion trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1) 11 Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137) GCAACACCTTCGTTCCCTCCA 0.527000 6 103 0 0 1 0 0 PYCR2 29920 broad.mit.edu 37 1 226108948 226108948 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:226108948G>A ENST00000343818.6 - 6 905 c.757C>T c.(757-759)Ctg>Ttg p.L253L RP4-559A3.7_ENST00000432920.2_Silent_p.L179L|PYCR2_ENST00000478402.1_5'UTR NM_013328.2 NP_037460.2 Q96C36 P5CR2_HUMAN pyrroline-5-carboxylate reductase family, member 2 253 proline biosynthetic process cytoplasm binding|pyrroline-5-carboxylate reductase activity kidney(1)|lung(3) 4 Breast(184;0.197) L-Proline(DB00172)|NADH(DB00157) TTGATGAGCAGAGAGCGGAAG 0.602000 5 41 0 0 1 0 0 OR2B6 26212 broad.mit.edu 37 6 27925696 27925696 + Silent SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:27925696G>A ENST00000244623.1 + 1 678 c.678G>A c.(676-678)ttG>ttA p.L226L NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GAGCAGTATTGAGGATACAGT 0.428000 8 234 0 0 1 0 0 ZNF112 7665 broad.mit.edu 37 19 44833880 44833880 + Nonsense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr19:44833880G>A ENST00000354340.4 - 4 481 c.430C>T c.(430-432)Cag>Tag p.Q144* ZNF112_ENST00000337401.4_Nonsense_Mutation_p.Q150*|CTC-512J12.6_ENST00000588212.1_Nonsense_Mutation_p.Q149*|ZNF112_ENST00000536500.1_Nonsense_Mutation_p.Q167* NM_013380.3 NP_037512.3 zinc finger protein 112 TCAGAAATCTGAACTGGTATT 0.393000 5 103 0 0 1 0 0 OR4C12 283093 broad.mit.edu 37 11 50003584 50003584 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:50003584G>A ENST00000335238.4 - 1 487 c.454C>T c.(454-456)Ctt>Ttt p.L152F NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 GTTGCATGAAGAAATCCTCCC 0.483000 11 239 0 0 1 0 0 SMAD3 4088 broad.mit.edu 37 15 67477138 67477138 + Silent SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr15:67477138C>G ENST00000327367.4 + 7 1255 c.945C>G c.(943-945)gtC>gtG p.V315V SMAD3_ENST00000540846.2_Silent_p.V210V|SMAD3_ENST00000439724.3_Silent_p.V271V|SMAD3_ENST00000537194.2_Silent_p.V120V NM_005902.3 NP_005893.1 P84022 SMAD3_HUMAN SMAD family member 3 315 MH2.|Sufficient for interaction with XPO4. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) CTATTTTTGTCCAGTCTCCCA 0.582000 6 81 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916854 178916854 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr3:178916854G>A ENST00000263967.3 + 2 398 c.241G>A c.(241-243)Gaa>Aaa p.E81K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 81 PI3K-ABD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E81K(8) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AGAAAGGGAAGAATTTTTTGA 0.358000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 8 135 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43815760 43815760 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr15:43815760G>A ENST00000382031.1 + 5 2834 c.2803G>A c.(2803-2805)Gag>Aag p.E935K MAP1A_ENST00000300231.5_Missense_Mutation_p.E697K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E697K P78559 MAP1A_HUMAN microtubule-associated protein 1A 697 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AAGGAGCCGGGAGGCTTTTGG 0.547000 4 38 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179611824 179611824 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:179611824C>T ENST00000360870.5 - 46 15525 c.15303G>A c.(15301-15303)gaG>gaA p.E5101E TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1209 Ig-like 31. 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) GCTCTAGAGTCTCTCCTGGGG 0.502000 12 129 0 0 1 0 0 PTER 9317 broad.mit.edu 37 10 16528557 16528557 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr10:16528557C>T ENST00000378000.1 + 4 885 c.639C>T c.(637-639)atC>atT p.I213I PTER_ENST00000298942.3_Silent_p.I213I|PTER_ENST00000535784.2_Silent_p.I213I|PTER_ENST00000423462.2_Silent_p.I213I|PTER_ENST00000485788.1_3'UTR NM_001001484.2|NM_001261838.1|NM_030664.4 NP_001001484.1|NP_001248767.1|NP_109589.2 Q96BW5 PTER_HUMAN phosphotriesterase related 213 catabolic process hydrolase activity, acting on ester bonds|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2) 15 TTCAGATTATCCGAATATTGC 0.478000 6 98 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100623823 100623823 + Missense_Mutation SNP G G A TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:100623823G>A ENST00000317233.4 - 5 509 c.274C>T c.(274-276)Ctc>Ttc p.L92F AFF3_ENST00000409236.1_Missense_Mutation_p.L92F|AFF3_ENST00000409579.1_Missense_Mutation_p.L117F|AFF3_ENST00000356421.2_Missense_Mutation_p.L117F NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 92 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 ACTCCAACGAGATGACTCTGA 0.443000 4 101 0 0 1 0 0 LOXL2 4017 broad.mit.edu 37 8 23160816 23160816 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr8:23160816C>G ENST00000389131.3 - 11 2344 c.1975G>C c.(1975-1977)Gag>Cag p.E659Q NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 659 Lysyl-oxidase like. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) TCTGTGTCCTCCAAGCAGAAG 0.597000 4 68 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155885709 155885710 + Frame_Shift_Ins INS - - T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr1:155885709_155885710insT ENST00000368320.3 - 13 1624_1625 c.1599_1600insA c.(1597-1602)acagtcfs p.V534fs KIAA0907_ENST00000368321.3_Frame_Shift_Ins_p.V534fs Q7Z7F0 K0907_HUMAN KIAA0907 534 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TCATCGGACTCTGTTTTTATTC 0.426 56 428 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 3 5 --- --- --- --- STRADB 55437 broad.mit.edu 37 2 202343234 202343234 + Frame_Shift_Del DEL G G - TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr2:202343234delG ENST00000194530.3 + 10 1345 c.980delG c.(979-981)atfs p.S327fs STRADB_ENST00000392249.2_Frame_Shift_Del_p.S327fs NM_001206864.1|NM_018571.5 NP_001193793.1|NP_061041.2 Q9C0K7 STRAB_HUMAN STE20-related kinase adaptor beta 327 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 breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1) 13 ACAGTAAATAGTGACCGATTA 0.423 10 77 --- --- --- --- HLA-V 352962 broad.mit.edu 37 6 29760353 29760373 + RNA DEL GCGGGCGCCGTGGATGGAGCA GCGGGCGCCGTGGATGGAGCA - rs74661005 by1000genomes TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA ENST00000457107.1 + 0 223_243 GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG 0.674 3 4 --- --- --- --- ADCK5 203054 broad.mit.edu 37 8 145617535 145617549 + Splice_Site DEL GGGGGTGCAAGGTGA GGGGGTGCAAGGTGA - rs11270020 TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr8:145617535_145617549delGGGGGTGCAAGGTGA ENST00000308860.6 + 12 1301_1311 c.1267_splice c.e12+1 p.L419_splice NM_174922.3 NP_777582.3 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 419 Protein kinase. integral to membrane protein serine/threonine kinase activity p.?(2) endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA 0.730 3 3 --- --- --- --- LOC101928823 101928823 broad.mit.edu 37 11 112332121 112332121 + RNA DEL T T - TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:112332121delT ENST00000528496.1 + 0 231 TGATTTTATGTTTTTTTTTTT 0.378 2 4 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124750448 124750453 + In_Frame_Del DEL CGGAGT CGGAGT - rs55725290 TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr11:124750448_124750453delCGGAGT ENST00000397801.1 + 27 4285_4290 c.4093_4098delCGGAGT c.(4093-4098)del p.RS1367del ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 1367 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGgccggagccggagtcggagtcaga 0.660 3 6 --- --- --- --- LRRC63 220416 broad.mit.edu 37 13 46844505 46844505 + Splice_Site DEL C C - TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr13:46844505delC ENST00000446175.1 + 10 1932 c.1588_splice c.e10+1 p.L529_splice LRRC63_ENST00000595396.1_Intron leucine rich repeat containing 63 lung(1)|ovary(1) 2 TTGCACCTCTCTGTAAGATTT 0.428 8 163 --- --- --- --- SNAI3-AS1 197187 broad.mit.edu 37 16 88734767 88734769 + RNA DEL CCC CCC - TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79e65f7b-baad-443a-9b93-8d7aab74f090 1de93cac-f6b5-4c6d-b5c1-176fbd48c647 g.chr16:88734767_88734769delCCC ENST00000563475.1 + 0 21 SNAI3-AS1_ENST00000563261.1_RNA|SNAI3-AS1_ENST00000565633.1_RNA|SNAI3-AS1_ENST00000569786.1_RNA NR_024402.1 ctcctgccctccccccatctttt 0.571 2 4 --- --- --- ---