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 MEGF6 1953 broad.mit.edu 37 1 3427388 3427388 + Missense_Mutation SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:3427388T>C ENST00000356575.4 - 10 1419 c.1193A>G c.(1192-1194)tAc>tGc p.Y398C MEGF6_ENST00000294599.4_Missense_Mutation_p.Y293C NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 398 EGF-like 7. extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GTAGCCGGCGTAGCAGCCGCA 0.682 4 28 --- --- --- --- TAS1R1 80835 broad.mit.edu 37 1 6634741 6634741 + Silent SNP C C A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:6634741C>A ENST00000333172.6 + 3 742 c.549C>A c.(547-549)ccC>ccA p.P183P TAS1R1_ENST00000328191.4_Silent_p.P183P|TAS1R1_ENST00000351136.3_Intron NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 183 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) GGCAGTATCCCTCTTTCCTGC 0.587 23 34 --- --- --- --- ARHGEF19 128272 broad.mit.edu 37 1 16534048 16534048 + Silent SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:16534048G>A ENST00000270747.3 - 5 979 c.843C>T c.(841-843)aaC>aaT p.N281N NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 281 regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) GGCGCCGCTCGTTGGTGCTCC 0.622 7 20 --- --- --- --- CROCCP2 84809 broad.mit.edu 37 1 16956572 16956572 + RNA SNP G G A rs112034187 TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:16956572G>A ENST00000412962.1 - 0 294 CACTCTCGCTGTCGCTAAGCT 0.642 5 33 --- --- --- --- TRIM62 55223 broad.mit.edu 37 1 33612961 33612961 + Missense_Mutation SNP C C A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:33612961C>A ENST00000291416.5 - 5 1478 c.1245G>T c.(1243-1245)aaG>aaT p.K415N TRIM62_ENST00000543586.1_Missense_Mutation_p.K294N NM_018207.2 NP_060677.2 Q9BVG3 TRI62_HUMAN tripartite motif containing 62 415 B30.2/SPRY. intracellular zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393) AGACACCCACCTTGTCAAGCT 0.577 12 50 --- --- --- --- NASP 4678 broad.mit.edu 37 1 46073658 46073658 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:46073658G>A ENST00000350030.3 + 6 1162 c.1075G>A c.(1075-1077)Gct>Act p.A359T NASP_ENST00000402363.3_Missense_Mutation_p.A361T|NASP_ENST00000351223.3_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.A295T|NASP_ENST00000372052.4_Intron NM_002482.3 NP_002473.2 P49321 NASP_HUMAN nuclear autoantigenic sperm protein (histone-binding) 359 Glu-rich (acidic). blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 17 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) AGCTGTAGAGGCTGGATCAGA 0.527 28 81 --- --- --- --- FAM73A 374986 broad.mit.edu 37 1 78338708 78338708 + Missense_Mutation SNP C C T rs149790967 TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:78338708C>T ENST00000370791.3 + 15 1615 c.1583C>T c.(1582-1584)gCc>gTc p.A528V FAM73A_ENST00000443751.2_Missense_Mutation_p.A491V NM_001270384.1|NM_198549.3 NP_001257313.1|NP_940951.1 Q8NAN2 FA73A_HUMAN family with sequence similarity 73, member A 528 integral to membrane breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) GGATTTTTTGCCCATTTTTAT 0.388 23 90 --- --- --- --- CLCA1 1179 broad.mit.edu 37 1 86942145 86942145 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:86942145C>T ENST00000234701.3 + 5 817 c.466C>T c.(466-468)Cat>Tat p.H156Y CLCA1_ENST00000394711.1_Missense_Mutation_p.H156Y A8K7I4 CLCA1_HUMAN chloride channel accessory 1 156 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) GGCATTTGTCCATGAGTGGGC 0.353 9 28 --- --- --- --- AMPD2 271 broad.mit.edu 37 1 110171762 110171762 + Missense_Mutation SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:110171762A>G ENST00000256578.3 + 13 2125 c.1765A>G c.(1765-1767)Aac>Gac p.N589D RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528454.1_Missense_Mutation_p.N471D|AMPD2_ENST00000342115.4_Missense_Mutation_p.N508D|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528667.1_Missense_Mutation_p.N589D|AMPD2_ENST00000358729.4_Missense_Mutation_p.N514D|AMPD2_ENST00000393688.3_Missense_Mutation_p.N470D NM_004037.7 NP_004028.3 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 589 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) CCAGCTGGCCAACTTCCAGGA 0.577 13 21 --- --- --- --- ALX3 257 broad.mit.edu 37 1 110603475 110603475 + Silent SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:110603475G>A ENST00000369792.4 - 4 999 c.912C>T c.(910-912)ccC>ccT p.P304P RP4-773N10.4_ENST00000554749.1_RNA NM_006492.2 NP_006483.2 O95076 ALX3_HUMAN ALX homeobox 3 304 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135) CCAGGGTGGGGGGAAAGCCAT 0.617 6 31 --- --- --- --- CAPZA1 829 broad.mit.edu 37 1 113197226 113197226 + Missense_Mutation SNP G G T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:113197226G>T ENST00000263168.3 + 5 1031 c.359G>T c.(358-360)tGg>tTg p.W120L CAPZA1_ENST00000476936.1_Intron NM_006135.2 NP_006126.1 P52907 CAZA1_HUMAN capping protein (actin filament) muscle Z-line, alpha 1 120 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly cytosol|extracellular region|F-actin capping protein complex|WASH complex actin binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1) 9 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGAAGTCTTGGAGAGAATCC 0.413 9 91 --- --- --- --- PTGFRN 5738 broad.mit.edu 37 1 117516856 117516856 + Missense_Mutation SNP C C A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:117516856C>A ENST00000393203.2 + 7 2225 c.2078C>A c.(2077-2079)tCt>tAt p.S693Y PTGFRN_ENST00000496699.1_3'UTR NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 693 Ig-like C2-type 6. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) TTTAATGCTTCTGTGCATTCA 0.423 32 61 --- --- --- --- S100A4 6275 broad.mit.edu 37 1 153516337 153516337 + Silent SNP G G A rs111468775 byFrequency TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:153516337G>A ENST00000368716.4 - 3 351 c.204C>T c.(202-204)aaC>aaT p.N68N S100A4_ENST00000368715.1_Silent_p.N68N|S100A4_ENST00000354332.4_Silent_p.N68N|S100A4_ENST00000368714.1_Silent_p.N68N|S100A4_ENST00000481009.1_5'UTR NM_002961.2 NP_002952.1 P26447 S10A4_HUMAN S100 calcium binding protein A4 68 EF-hand 2. epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus|perinuclear region of cytoplasm calcium ion binding|RAGE receptor binding large_intestine(2)|lung(1)|prostate(1) 4 all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) AGTCCACCTCGTTGTCCCTGT 0.483 14 128 --- --- --- --- C1orf43 25912 broad.mit.edu 37 1 154179947 154179947 + Silent SNP T T A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:154179947T>A ENST00000368521.5 - 7 942 c.744A>T c.(742-744)acA>acT p.T248T C1orf43_ENST00000350592.3_Silent_p.T214T|C1orf43_ENST00000368519.1_Silent_p.T230T|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000362076.4_Silent_p.T196T NM_001098616.1 NP_001092086.1 Q9BWL3 CA043_HUMAN chromosome 1 open reading frame 43 248 integral to membrane coenzyme binding|oxidoreductase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 10 all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877) TACTCTCCAATGTGTTATAGT 0.507 29 61 --- --- --- --- CCDC19 25790 broad.mit.edu 37 1 159860404 159860404 + Silent SNP G G C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:159860404G>C ENST00000368099.4 - 3 202 c.138C>G c.(136-138)gcC>gcG p.A46A CCDC19_ENST00000426543.2_5'UTR|CCDC19_ENST00000476696.1_5'UTR NM_012337.2 NP_036469.2 Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 46 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) TCTGGCCCTGGGCTGGGGACT 0.532 4 55 --- --- --- --- NCSTN 23385 broad.mit.edu 37 1 160314573 160314573 + Silent SNP C C A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:160314573C>A ENST00000368063.1 + 3 367 c.87C>A c.(85-87)ccC>ccA p.P29P NCSTN_ENST00000535857.1_Silent_p.P49P|NCSTN_ENST00000392212.4_Silent_p.P29P|NCSTN_ENST00000294785.5_Silent_p.P49P Q92542 NICA_HUMAN nicastrin 49 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2) 34 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AAACAGCTCCCTGTGTTCGCC 0.428 4 23 --- --- --- --- SWT1 54823 broad.mit.edu 37 1 185259915 185259915 + Missense_Mutation SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:185259915A>G ENST00000367500.4 + 19 2848 c.2683A>G c.(2683-2685)Atg>Gtg p.M895V SWT1_ENST00000367501.3_Missense_Mutation_p.M895V NM_017673.6 NP_060143.4 Q5T5J6 SWT1_HUMAN SWT1 RNA endoribonuclease homolog (S. cerevisiae) 895 breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1) 41 GTGTGAAGACATGCTCAACTA 0.403 11 16 --- --- --- --- HMCN1 83872 broad.mit.edu 37 1 186009011 186009011 + Splice_Site SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:186009011G>A ENST00000271588.4 + 39 6409 c.6180G>A c.(6178-6180)caG>caA p.Q2060Q HMCN1_ENST00000367492.2_Splice_Site_p.Q2060Q NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2060 Ig-like C2-type 18. 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 ATGGATTACAGGTACCTTCAT 0.413 10 31 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186280171 186280171 + Missense_Mutation SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:186280171T>C ENST00000445192.2 + 9 3550 c.3505T>C c.(3505-3507)Tat>Cat p.Y1169H PRG4_ENST00000367486.3_Missense_Mutation_p.Y1126H|PRG4_ENST00000367484.3_Missense_Mutation_p.Y698H|PRG4_ENST00000367483.4_Missense_Mutation_p.Y1128H|PRG4_ENST00000367485.4_Missense_Mutation_p.Y1076H NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 1169 Hemopexin-like 1. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 TTTAGGTCATTATTTCTGGAT 0.368 15 40 --- --- --- --- EPHX1 2052 broad.mit.edu 37 1 226016443 226016443 + Missense_Mutation SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:226016443A>G ENST00000366837.4 + 2 209 c.13A>G c.(13-15)Atc>Gtc p.I5V EPHX1_ENST00000272167.5_Missense_Mutation_p.I5V NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 5 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) GTGGCTAGAAATCCTCCTCAC 0.587 4 19 --- --- --- --- TTC13 79573 broad.mit.edu 37 1 231057237 231057237 + Missense_Mutation SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:231057237T>C ENST00000366661.4 - 16 1835 c.1828A>G c.(1828-1830)Aac>Gac p.N610D TTC13_ENST00000366662.4_Missense_Mutation_p.N557D|TTC13_ENST00000414259.1_Missense_Mutation_p.N557D NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 610 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) TATCTCATGTTGATCACCTGA 0.259 6 47 --- --- --- --- C1orf101 257044 broad.mit.edu 37 1 244724125 244724125 + Silent SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:244724125G>A ENST00000366534.4 + 10 1239 c.1185G>A c.(1183-1185)gaG>gaA p.E395E C1orf101_ENST00000366531.3_Silent_p.E244E|C1orf101_ENST00000366533.4_Silent_p.E395E|C1orf101_ENST00000473875.1_3'UTR NM_001130957.1 NP_001124429.1 Q5SY80 CA101_HUMAN chromosome 1 open reading frame 101 395 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 36 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) ACAGGGTTGAGTATACAGGAC 0.368 25 51 --- --- --- --- OR2M2 391194 broad.mit.edu 37 1 248343968 248343968 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:248343968C>T ENST00000359682.2 + 1 681 c.681C>T c.(679-681)caC>caT p.H227H NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 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) CTGTCATTCACATGGGATCTG 0.433 9 167 --- --- --- --- OR2T27 403239 broad.mit.edu 37 1 248813806 248813806 + Missense_Mutation SNP C C A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:248813806C>A ENST00000344889.3 - 1 379 c.380G>T c.(379-381)tGc>tTc p.C127F NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CAGAGGGTTGCAGATGGCTAC 0.542 14 117 --- --- --- --- APLF 200558 broad.mit.edu 37 2 68717386 68717386 + Missense_Mutation SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr2:68717386T>C ENST00000303795.4 + 2 332 c.161T>C c.(160-162)aTc>aCc p.I54T NM_173545.2 NP_775816.1 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 54 FHA-like. double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 CAGCTGCGAATCAAACCGGTA 0.368 3 8 --- --- --- --- DNAH6 1768 broad.mit.edu 37 2 84800604 84800604 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr2:84800604C>T ENST00000389394.3 + 12 1954 c.1817C>T c.(1816-1818)gCc>gTc p.A606V DNAH6_ENST00000237449.6_Missense_Mutation_p.A606V|DNAH6_ENST00000398278.2_Missense_Mutation_p.A606V NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 606 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 ACCATTCAGGCCGCATTTGAA 0.328 8 54 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98418415 98418415 + Missense_Mutation SNP C C G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr2:98418415C>G ENST00000186436.5 - 25 2889 c.2661G>C c.(2659-2661)ttG>ttC p.L887F NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 887 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 CCACCTTACTCAAGTTAAACC 0.299 10 15 --- --- --- --- EPB41L5 57669 broad.mit.edu 37 2 120776691 120776691 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr2:120776691C>T ENST00000263713.5 + 2 245 c.31C>T c.(31-33)Cgt>Tgt p.R11C EPB41L5_ENST00000452780.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000443902.2_Missense_Mutation_p.R11C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.R11C NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 11 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 AACACTAGGGCGTCGGTCTAT 0.453 10 124 --- --- --- --- GLI2 2736 broad.mit.edu 37 2 121708835 121708835 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr2:121708835G>A ENST00000452319.1 + 4 331 c.271G>A c.(271-273)Ggc>Agc p.G91S GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.G91S P10070 GLI2_HUMAN GLI family zinc finger 2 91 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TGCCCTCAGCGGCAGCCCTGT 0.632 7 115 --- --- --- --- ACVR2A 92 broad.mit.edu 37 2 148602758 148602758 + Missense_Mutation SNP C C G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr2:148602758C>G ENST00000241416.7 + 1 673 c.37C>G c.(37-39)Ctt>Gtt p.L13V ACVR2A_ENST00000535787.1_Intron|ACVR2A_ENST00000404590.1_Missense_Mutation_p.L13V NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 13 L -> V (in Ref. 4; BAA06548). activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) TGCCGTCTTTCTTATCTCCTG 0.647 14 23 --- --- --- --- SLC38A11 151258 broad.mit.edu 37 2 165809221 165809221 + Silent SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr2:165809221A>G ENST00000303735.4 - 2 387 c.57T>C c.(55-57)gtT>gtC p.V19V SLC38A11_ENST00000409149.3_Silent_p.V19V|SLC38A11_ENST00000409058.1_Intron|SLC38A11_ENST00000409662.1_Silent_p.V19V NM_173512.2 NP_775783.1 Q08AI6 S38AB_HUMAN solute carrier family 38, member 11 19 amino acid transport|sodium ion transport integral to membrane endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 TTTTACCTGTAACATATGAAA 0.363 5 29 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179440959 179440959 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr2:179440959C>T ENST00000589042.1 - 326 70124 c.69900G>A c.(69898-69900)caG>caA p.Q23300Q TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.Q20732Q|TTN_ENST00000342175.6_Silent_p.Q14427Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.Q14360Q|TTN_ENST00000460472.2_Silent_p.Q14235Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Silent_p.Q21659Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21659 Fibronectin type-III 69. 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) GAACAACGAACTGAGTGATTC 0.468 5 32 --- --- --- --- PARD3B 117583 broad.mit.edu 37 2 206480515 206480515 + Missense_Mutation SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr2:206480515A>G ENST00000406610.2 + 23 3803 c.3596A>G c.(3595-3597)aAc>aGc p.N1199S PARD3B_ENST00000349953.3_Missense_Mutation_p.N1098S|PARD3B_ENST00000351153.1_Missense_Mutation_p.N1130S|PARD3B_ENST00000358768.2_Missense_Mutation_p.N1137S|PARD3B_ENST00000488622.1_3'UTR NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 1199 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CGGCAGAAGAACCCCATGACT 0.582 10 41 --- --- --- --- INHA 3623 broad.mit.edu 37 2 220439863 220439863 + Nonsense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr2:220439863G>A ENST00000243786.2 + 2 896 c.716G>A c.(715-717)tGg>tAg p.W239* NM_002191.3 NP_002182.1 P05111 INHA_HUMAN inhibin, alpha 239 cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development inhibin A complex|inhibin-betaglycan-ActRII complex cytokine activity|growth factor activity|hormone activity|signal transducer activity large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 Renal(207;0.0183) Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) CTGATGTCCTGGCCTTGGTCT 0.657 18 45 --- --- --- --- SAG 6295 broad.mit.edu 37 2 234237188 234237188 + Nonsense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr2:234237188C>T ENST00000409110.1 + 8 807 c.577C>T c.(577-579)Cga>Tga p.R193* SAG_ENST00000449594.2_Nonsense_Mutation_p.R59* NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 193 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) TCCCCAGCCCCGAGCTGAGGC 0.582 15 45 --- --- --- --- DGKD 8527 broad.mit.edu 37 2 234371288 234371288 + Splice_Site SNP G G T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr2:234371288G>T ENST00000264057.2 + 26 3105 c.e26-1 DGKD_ENST00000409813.3_Splice_Site NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) GTTTCTTCTAGGGGCTCAACT 0.592 8 113 --- --- --- --- KLHL30 377007 broad.mit.edu 37 2 239049574 239049574 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr2:239049574C>T ENST00000409223.1 + 2 286 c.179C>T c.(178-180)gCc>gTc p.A60V KLHL30_ENST00000305959.4_Missense_Mutation_p.A42V Q0D2K2 KLH30_HUMAN kelch-like family member 30 60 BTB. lung(4) 4 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) TACTTCCATGCCATGTTTGCG 0.677 22 47 --- --- --- --- ITPR1 3708 broad.mit.edu 37 3 4847908 4847908 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr3:4847908G>A ENST00000302640.8 + 54 7534 c.7184G>A c.(7183-7185)tGt>tAt p.C2395Y ITPR1_ENST00000456211.2_Missense_Mutation_p.C2347Y|ITPR1_ENST00000544951.1_Missense_Mutation_p.C373Y|ITPR1_ENST00000443694.2_Missense_Mutation_p.C2395Y|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000423119.2_Missense_Mutation_p.C2362Y|ITPR1_ENST00000357086.4_Missense_Mutation_p.C2362Y|ITPR1_ENST00000354582.6_Missense_Mutation_p.C2395Y NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 2410 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) CTGGTGATCTGTGCCATGGGG 0.463 12 37 --- --- --- --- TADA3 10474 broad.mit.edu 37 3 9825746 9825746 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr3:9825746C>T ENST00000343450.2 - 8 1619 c.1072G>A c.(1072-1074)Gcc>Acc p.A358T TADA3_ENST00000440161.1_Missense_Mutation_p.A358T|TADA3_ENST00000301964.2_Missense_Mutation_p.A358T NM_133480.1 NP_597814.1 O75528 TADA3_HUMAN transcriptional adaptor 3 358 estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 16 CGGTTGTGGGCACTAAGTGCC 0.627 5 20 --- --- --- --- OSBPL10 114884 broad.mit.edu 37 3 31705656 31705656 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr3:31705656C>T ENST00000396556.2 - 11 2287 c.2165G>A c.(2164-2166)cGg>cAg p.R722Q OSBPL10_ENST00000438237.2_Missense_Mutation_p.R658Q NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 722 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) CTCCAGGTGCCGCTTCTGCTC 0.602 6 66 --- --- --- --- VILL 50853 broad.mit.edu 37 3 38038579 38038579 + Silent SNP C C A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr3:38038579C>A ENST00000283713.6 + 6 728 c.462C>A c.(460-462)tcC>tcA p.S154S VILL_ENST00000383759.2_Silent_p.S154S|VILL_ENST00000465644.1_Intron O15195 VILL_HUMAN villin-like 154 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TGGAGCTCTCCTGGAACAGCT 0.542 OREG0015474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 71 --- --- --- --- LARS2 23395 broad.mit.edu 37 3 45559536 45559536 + Missense_Mutation SNP G G T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr3:45559536G>T ENST00000415258.1 + 17 2327 c.2186G>T c.(2185-2187)tGg>tTg p.W729L LARS2_ENST00000467936.1_3'UTR|LARS2_ENST00000414984.1_Missense_Mutation_p.W686L|LARS2_ENST00000265537.3_Missense_Mutation_p.W729L Q15031 SYLM_HUMAN leucyl-tRNA synthetase 2, mitochondrial 729 leucyl-tRNA aminoacylation mitochondrial matrix ATP binding|leucine-tRNA ligase activity endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372) L-Leucine(DB00149) AGGAAGCTCTGGGAGTACAAG 0.517 7 22 --- --- --- --- GMPPB 29925 broad.mit.edu 37 3 49759676 49759676 + Silent SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr3:49759676G>A ENST00000480687.1 - 8 872 c.756C>T c.(754-756)ggC>ggT p.G252G GMPPB_ENST00000308375.6_Silent_p.G252G|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308388.6_Silent_p.G252G Q9Y5P6 GMPPB_HUMAN GDP-mannose pyrophosphorylase B 252 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCAGCACGTTGCCCACAATGC 0.602 6 46 --- --- --- --- NISCH 11188 broad.mit.edu 37 3 52526219 52526219 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr3:52526219C>T ENST00000345716.4 + 21 4370 c.4236C>T c.(4234-4236)cgC>cgT p.R1412R NISCH_ENST00000479054.1_Silent_p.R1412R NM_007184.3 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 1412 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) ATGGCCGCCGCGTCCGGGACC 0.627 18 62 --- --- --- --- FAM208A 23272 broad.mit.edu 37 3 56682861 56682861 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr3:56682861C>T ENST00000431842.2 - 6 1238 c.314G>A c.(313-315)aGc>aAc p.S105N FAM208A_ENST00000355628.5_Missense_Mutation_p.S501N|FAM208A_ENST00000493960.2_Missense_Mutation_p.S501N NM_015224.3 NP_056039.2 Q9UK61 CC063_HUMAN family with sequence similarity 208, member A 501 NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1) 32 AGTAACTATGCTTCTAGGTTC 0.308 4 32 --- --- --- --- ALCAM 214 broad.mit.edu 37 3 105260577 105260577 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr3:105260577G>A ENST00000306107.5 + 8 1459 c.959G>A c.(958-960)aGc>aAc p.S320N ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000486979.2_Missense_Mutation_p.S269N|ALCAM_ENST00000472644.2_Missense_Mutation_p.S320N|ALCAM_ENST00000481337.1_3'UTR NM_001627.3 NP_001618.2 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 320 Ig-like C2-type 1. cell adhesion|signal transduction integral to membrane receptor binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 GACAAAAAAAGCATGATTGCT 0.428 9 74 --- --- --- --- SNX4 8723 broad.mit.edu 37 3 125170172 125170172 + Missense_Mutation SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr3:125170172T>C ENST00000251775.4 - 13 1306 c.1282A>G c.(1282-1284)Atg>Gtg p.M428V SNX4_ENST00000536067.1_Missense_Mutation_p.M283V NM_003794.2 NP_003785.1 O95219 SNX4_HUMAN sorting nexin 4 428 cell communication|endocytic recycling|endocytosis|protein transport cytoplasmic dynein complex|early endosome membrane phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1) 11 CTGATCTGCATGACTGCATAG 0.363 19 138 --- --- --- --- COL6A6 131873 broad.mit.edu 37 3 130286065 130286065 + Missense_Mutation SNP A A T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr3:130286065A>T ENST00000358511.6 + 4 1833 c.1802A>T c.(1801-1803)gAc>gTc p.D601V COL6A6_ENST00000453409.2_Missense_Mutation_p.D601V NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 601 Nonhelical region.|VWFA 3. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GCATTGAAAGACATAAGAAAC 0.418 12 36 --- --- --- --- CP 1356 broad.mit.edu 37 3 148924002 148924002 + Silent SNP G G T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr3:148924002G>T ENST00000264613.6 - 6 1423 c.1161C>A c.(1159-1161)ccC>ccA p.P387P NM_000096.3 NP_000087 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 387 F5/8 type A 2.|Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity p.P387P(1) breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) CTATACCAGAGGGAGCATAGT 0.403 27 67 --- --- --- --- PFN2 5217 broad.mit.edu 37 3 149684332 149684332 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr3:149684332C>T ENST00000239940.7 - 3 619 c.367G>A c.(367-369)Gga>Aga p.G123R PFN2_ENST00000498307.1_Missense_Mutation_p.G74R|PFN2_ENST00000481275.1_Missense_Mutation_p.G74R|PFN2_ENST00000489155.1_Missense_Mutation_p.G74R|PFN2_ENST00000494827.1_Intron|PFN2_ENST00000497148.1_Missense_Mutation_p.G74R|PFN2_ENST00000452853.2_Intron|PFN2_ENST00000475518.1_Missense_Mutation_p.G74R|PFN2_ENST00000490975.1_Missense_Mutation_p.G108R|PFN2_ENST00000481767.1_Intron|PFN2_ENST00000423691.2_Intron P35080 PROF2_HUMAN profilin 2 123 actin cytoskeleton organization|regulation of actin polymerization or depolymerization actin cytoskeleton|cytoplasm actin binding|phosphatidylinositol-4,5-bisphosphate binding p.G123R(1) large_intestine(1)|lung(4)|ovary(1)|prostate(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TTATTCAATCCGCCTCCATGG 0.388 30 377 --- --- --- --- TIPARP 25976 broad.mit.edu 37 3 156411927 156411927 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr3:156411927G>A ENST00000461166.1 + 3 1624 c.1036G>A c.(1036-1038)Gtc>Atc p.V346I TIPARP_ENST00000295924.7_Missense_Mutation_p.V346I|TIPARP_ENST00000486483.1_Missense_Mutation_p.V346I|TIPARP_ENST00000542783.1_Missense_Mutation_p.V346I NM_001184717.1 NP_001171646.1 Q7Z3E1 PARPT_HUMAN TCDD-inducible poly(ADP-ribose) polymerase 346 WWE. NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TTACCACACAGTCTGGAAATT 0.383 24 46 --- --- --- --- IL12A 3592 broad.mit.edu 37 3 159711354 159711354 + Splice_Site SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr3:159711354G>A ENST00000305579.2 + 5 727 c.e5-1 IL12A_ENST00000466512.1_Splice_Site|IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Splice_Site NM_000882.3 NP_000873.2 P29459 IL12A_HUMAN interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus interleukin-12 complex cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity endometrium(3)|kidney(1)|large_intestine(1)|lung(4) 9 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TTTTCCTCTAGAATGGGAGTT 0.388 8 84 --- --- --- --- NAALADL2 254827 broad.mit.edu 37 3 175520891 175520891 + Missense_Mutation SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr3:175520891A>G ENST00000454872.1 + 14 2416 c.2288A>G c.(2287-2289)cAa>cGa p.Q763R NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 763 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) GAGACCCTTCAAGAAGCCCTG 0.433 5 36 --- --- --- --- PIK3CA 5290 broad.mit.edu 37 3 178952026 178952026 + Silent SNP C C A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr3:178952026C>A ENST00000263967.3 + 21 3238 c.3081C>A c.(3079-3081)gcC>gcA p.A1027A NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1027 PI3K/PI4K. 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.A1027V(2) 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) AGACCCTAGCCTTAGATAAAA 0.388 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 14 75 --- --- --- --- TMEM128 85013 broad.mit.edu 37 4 4239662 4239662 + Splice_Site SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr4:4239662G>A ENST00000254742.2 - 4 913 c.327C>T c.(325-327)tgC>tgT p.C109C TMEM128_ENST00000538516.1_Intron|TMEM128_ENST00000540397.1_Splice_Site_p.C133C|TMEM128_ENST00000382753.4_Splice_Site_p.C133C NM_032927.2 NP_116316.1 Q5BJH2 TM128_HUMAN transmembrane protein 128 133 integral to membrane endometrium(1)|kidney(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.166) CAATGTTGAAGCTGAAAAGAA 0.343 8 33 --- --- --- --- MAN2B2 23324 broad.mit.edu 37 4 6610853 6610853 + Missense_Mutation SNP C C T rs151180999 TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr4:6610853C>T ENST00000285599.3 + 12 1870 c.1834C>T c.(1834-1836)Cgc>Tgc p.R612C MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Missense_Mutation_p.R561C NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 612 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 CCGAACGGTGCGCGTGACCCA 0.572 8 17 --- --- --- --- S100P 6286 broad.mit.edu 37 4 6695686 6695686 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr4:6695686C>T ENST00000296370.3 + 1 891 c.27C>T c.(25-27)ggC>ggT p.G9G S100P_ENST00000513778.1_Intron NM_005980.2 NP_005971.1 P25815 S100P_HUMAN S100 calcium binding protein P 9 endothelial cell migration cytoplasm|nucleus calcium ion binding|calcium-dependent protein binding|magnesium ion binding prostate(1) 1 Myeloproliferative disorder(84;0.0255) Colorectal(103;0.011) Cromoglicate(DB01003) CAGCCATGGGCATGATCATAG 0.587 15 32 --- --- --- --- KCTD8 386617 broad.mit.edu 37 4 44450453 44450453 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr4:44450453C>T ENST00000360029.3 - 1 371 c.88G>A c.(88-90)Gcc>Acc p.A30T NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 30 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 gcggcggcggccgacgcgccg 0.687 HNSCC(17;0.042) 4 4 --- --- --- --- POLR2B 5431 broad.mit.edu 37 4 57876617 57876617 + Silent SNP A A C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr4:57876617A>C ENST00000381227.1 + 12 1908 c.1495A>C c.(1495-1497)Aga>Cga p.R499R POLR2B_ENST00000441246.2_Silent_p.R492R|POLR2B_ENST00000431623.2_Silent_p.R424R|POLR2B_ENST00000314595.5_Silent_p.R499R|POLR2B_ENST00000510355.1_3'UTR P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 499 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) AGCAAAACCAAGACAGTTGCA 0.428 32 58 --- --- --- --- TMPRSS11B 132724 broad.mit.edu 37 4 69101871 69101871 + Missense_Mutation SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr4:69101871T>C ENST00000332644.5 - 3 399 c.238A>G c.(238-240)Aag>Gag p.K80E NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 80 SEA. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 TGATTTACCTTAGTCTCAATA 0.284 11 20 --- --- --- --- FGF5 2250 broad.mit.edu 37 4 81207548 81207548 + Missense_Mutation SNP G G T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr4:81207548G>T ENST00000312465.7 + 3 755 c.529G>T c.(529-531)Gca>Tca p.A177S FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR NM_004464.3 NP_004455.2 P12034 FGF5_HUMAN fibroblast growth factor 5 177 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 CTATGCCTCAGCAATACATAG 0.453 6 91 --- --- --- --- GPRIN3 285513 broad.mit.edu 37 4 90169157 90169157 + Missense_Mutation SNP G G C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr4:90169157G>C ENST00000609438.1 - 2 2623 c.2105C>G c.(2104-2106)gCa>gGa p.A702G GPRIN3_ENST00000333209.4_Missense_Mutation_p.A702G NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) CAGGGACTCTGCGTCCAAGGA 0.502 6 35 --- --- --- --- STPG2 285555 broad.mit.edu 37 4 98633951 98633951 + Missense_Mutation SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr4:98633951T>C ENST00000295268.3 - 10 1308 c.1219A>G c.(1219-1221)Aat>Gat p.N407D STPG2_ENST00000506482.1_5'UTR NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 AAAACAGGATTGTATGCTGCA 0.348 17 13 --- --- --- --- HHIP 64399 broad.mit.edu 37 4 145580838 145580838 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr4:145580838C>T ENST00000296575.3 + 4 1334 c.679C>T c.(679-681)Cgg>Tgg p.R227W HHIP_ENST00000434550.2_Missense_Mutation_p.R227W|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 227 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) GAGTGGGCTGCGGCAGCCCGT 0.448 12 132 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146058591 146058591 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr4:146058591C>T ENST00000454497.2 - 21 3278 c.3141G>A c.(3139-3141)caG>caA p.Q1047Q OTUD4_ENST00000447906.2_Silent_p.Q1112Q|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 1111 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) ATCAAGTGTGCTGTCCCCTAT 0.433 14 138 --- --- --- --- NR3C2 4306 broad.mit.edu 37 4 149002640 149002640 + Missense_Mutation SNP T T A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr4:149002640T>A ENST00000355292.3 - 9 3184 c.2822A>T c.(2821-2823)gAc>gTc p.D941V NR3C2_ENST00000344721.4_Missense_Mutation_p.D937V|NR3C2_ENST00000358102.3_Missense_Mutation_p.D937V|NR3C2_ENST00000511528.1_Missense_Mutation_p.D941V|NR3C2_ENST00000512865.1_Missense_Mutation_p.D820V P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 937 Steroid-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) TTCCAGCAGGTCGCTCACCAG 0.572 17 29 --- --- --- --- SH3D19 152503 broad.mit.edu 37 4 152053535 152053535 + Splice_Site SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr4:152053535C>T ENST00000409598.4 - 17 3017 c.1850G>A c.(1849-1851)aGc>aAc p.S617N SH3D19_ENST00000304527.4_Splice_Site_p.S640N|SH3D19_ENST00000424281.1_Splice_Site_p.S581N|SH3D19_ENST00000409252.2_Splice_Site_p.S640N|SH3D19_ENST00000455740.1_Splice_Site_p.S617N|SH3D19_ENST00000514152.1_Splice_Site_p.S617N|SH3D19_ENST00000427414.2_Splice_Site_p.S581N Q5HYK7 SH319_HUMAN SH3 domain containing 19 640 SH3 3. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) TACCTTTGTGCCTACATTAAA 0.408 3 25 --- --- --- --- SLC6A3 6531 broad.mit.edu 37 5 1422012 1422012 + Missense_Mutation SNP C C A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr5:1422012C>A ENST00000270349.9 - 5 898 c.771G>T c.(769-771)aaG>aaT p.K257N SLC6A3_ENST00000453492.2_Missense_Mutation_p.K257N NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 257 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) TCTTCACGCCCTTCCAGAGGC 0.637 15 56 --- --- --- --- ADAMTS6 11174 broad.mit.edu 37 5 64629882 64629882 + Silent SNP G G T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr5:64629882G>T ENST00000536360.1 - 8 1917 c.1104C>A c.(1102-1104)ccC>ccA p.P368P Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 6 368 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) GTGTTCCACAGGGCTTATTTT 0.264 10 26 --- --- --- --- ENC1 8507 broad.mit.edu 37 5 73931034 73931034 + Missense_Mutation SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr5:73931034A>G ENST00000302351.4 - 2 2407 c.1277T>C c.(1276-1278)aTg>aCg p.M426T ENC1_ENST00000537006.1_Missense_Mutation_p.M426T|ENC1_ENST00000510316.1_Missense_Mutation_p.M353T NM_003633.3 NP_003624.1 O14682 ENC1_HUMAN ectodermal-neural cortex 1 (with BTB domain) 426 nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) TGGGGCCACCATGGTCCATTT 0.552 20 45 --- --- --- --- P4HA2 8974 broad.mit.edu 37 5 131544898 131544898 + Missense_Mutation SNP C C A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr5:131544898C>A ENST00000401867.1 - 8 1404 c.836G>T c.(835-837)aGg>aTg p.R279M P4HA2_ENST00000379100.2_Missense_Mutation_p.R279M|P4HA2_ENST00000379104.2_Missense_Mutation_p.R279M|P4HA2_ENST00000379086.1_Missense_Mutation_p.R279M|P4HA2_ENST00000166534.4_Missense_Mutation_p.R279M|P4HA2_ENST00000360568.3_Missense_Mutation_p.R279M O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha polypeptide II 279 endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) GTCCACAGGCCTCTCATAGAT 0.512 7 127 --- --- --- --- PCDHA2 56146 broad.mit.edu 37 5 140176038 140176038 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr5:140176038C>T ENST00000526136.1 + 1 1489 c.1489C>T c.(1489-1491)Cgg>Tgg p.R497W PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGTGGAGCGGCGGGTGGG 0.672 7 62 --- --- --- --- PCDHA12 56137 broad.mit.edu 37 5 140256668 140256668 + Silent SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr5:140256668G>A ENST00000398631.2 + 1 1611 c.1611G>A c.(1609-1611)gcG>gcA p.A537A PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron NM_018903.2|NM_031864.2 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTGAGCGCGCGCGACGCCG 0.687 50 97 --- --- --- --- DUSP1 1843 broad.mit.edu 37 5 172195842 172195842 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr5:172195842C>T ENST00000239223.3 - 4 1269 c.1027G>A c.(1027-1029)Gtc>Atc p.V343I RP11-779O18.3_ENST00000523005.1_RNA NM_004417.3 NP_004408.1 P28562 DUS1_HUMAN dual specificity phosphatase 1 343 Tyrosine-protein phosphatase. cell cycle|endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 10 Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729) all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GBM - Glioblastoma multiforme(465;0.0103) GGGATGGAGACGGGGAAGTTG 0.642 7 60 --- --- --- --- DHX16 8449 broad.mit.edu 37 6 30630690 30630690 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr6:30630690C>T ENST00000376442.3 - 8 1621 c.1426G>A c.(1426-1428)Gag>Aag p.E476K NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 476 Helicase ATP-binding. mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 AATCTCACCTCATTCCCAAGC 0.587 10 34 --- --- --- --- USP45 85015 broad.mit.edu 37 6 99885247 99885247 + Missense_Mutation SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr6:99885247T>C ENST00000327681.6 - 17 2721 c.2189A>G c.(2188-2190)tAc>tGc p.Y730C USP45_ENST00000369233.2_Missense_Mutation_p.Y682C|USP45_ENST00000539675.1_Missense_Mutation_p.Y23C|USP45_ENST00000392738.2_Missense_Mutation_p.Y410C|USP45_ENST00000500704.2_Missense_Mutation_p.Y730C NM_001080481.1 NP_001073950.1 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 730 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 22 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) ATAGAGACCGTAGAGAACTTT 0.363 15 19 --- --- --- --- LAMA4 3910 broad.mit.edu 37 6 112463376 112463376 + Missense_Mutation SNP C C A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr6:112463376C>A ENST00000230538.7 - 20 3009 c.2612G>T c.(2611-2613)cGg>cTg p.R871L LAMA4_ENST00000389463.4_Missense_Mutation_p.R864L|LAMA4_ENST00000424408.2_Missense_Mutation_p.R864L|LAMA4_ENST00000522006.1_Missense_Mutation_p.R864L NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 871 Laminin G-like 1. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CAGTTCCGGCCGCTTCACAGG 0.473 17 38 --- --- --- --- SOGA3 387104 broad.mit.edu 37 6 127796901 127796901 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr6:127796901G>A ENST00000556132.1 - 6 3134 c.2270C>T c.(2269-2271)gCg>gTg p.A757V SOGA3_ENST00000525778.1_Missense_Mutation_p.A757V|SOGA3_ENST00000465909.2_Missense_Mutation_p.A757V|SOGA3_ENST00000481848.2_Missense_Mutation_p.A757V|SOGA3_ENST00000368268.2_Missense_Mutation_p.A757V NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 757 integral to membrane CTTCTTGCCCGCGTCGCTCTC 0.697 7 40 --- --- --- --- CNKSR3 154043 broad.mit.edu 37 6 154727613 154727613 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr6:154727613C>T ENST00000607772.1 - 13 2087 c.1543G>A c.(1543-1545)Gcc>Acc p.A515T CNKSR3_ENST00000479339.1_Missense_Mutation_p.A435T|CNKSR3_ENST00000433165.2_Missense_Mutation_p.A340T NM_173515.2 NP_775786.2 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 515 DUF1170. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 15 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) GGAATCGTGGCGCTGCTGTGG 0.572 4 60 --- --- --- --- C6orf118 168090 broad.mit.edu 37 6 165715064 165715064 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr6:165715064C>T ENST00000543069.1 - 2 1016 c.435G>A c.(433-435)ctG>ctA p.L145L C6orf118_ENST00000230301.8_Silent_p.L249L Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 249 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) TCACCTGCTGCAGCTTTCTCT 0.607 7 83 --- --- --- --- MIOS 54468 broad.mit.edu 37 7 7645694 7645694 + Silent SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr7:7645694T>C ENST00000340080.4 + 12 2944 c.2523T>C c.(2521-2523)agT>agC p.S841S MIOS_ENST00000405785.1_Silent_p.S841S NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 841 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ATATGCTTAGTTGGTTCAGGT 0.388 47 89 --- --- --- --- PRPS1L1 221823 broad.mit.edu 37 7 18066568 18066568 + Missense_Mutation SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr7:18066568T>C ENST00000506618.2 - 1 918 c.838A>G c.(838-840)Aag>Gag p.K280E NM_175886.2 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 280 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) TGCTTCATCTTCTCATCTTGA 0.428 46 79 --- --- --- --- STK31 56164 broad.mit.edu 37 7 23826531 23826531 + Silent SNP T T A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr7:23826531T>A ENST00000354639.3 + 20 2870 c.2406T>A c.(2404-2406)ccT>ccA p.P802P STK31_ENST00000355870.3_Silent_p.P825P|STK31_ENST00000433467.2_Silent_p.P825P|STK31_ENST00000428484.1_Silent_p.P802P|STK31_ENST00000405627.3_3'UTR NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 825 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CCAACATGCCTTTAAATTCAG 0.363 7 89 --- --- --- --- C7orf57 136288 broad.mit.edu 37 7 48081003 48081003 + Missense_Mutation SNP G G T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr7:48081003G>T ENST00000348904.3 + 3 340 c.128G>T c.(127-129)gGt>gTt p.G43V C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000430738.1_Missense_Mutation_p.G88V|C7orf57_ENST00000420324.1_Missense_Mutation_p.G88V|C7orf57_ENST00000539619.1_Missense_Mutation_p.G43V NM_001100159.2 NP_001093629.1 Q8NEG2 CG057_HUMAN chromosome 7 open reading frame 57 43 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 CAGATCCCAGGTCTCAGCAAT 0.537 10 27 --- --- --- --- FZD9 8326 broad.mit.edu 37 7 72849235 72849235 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr7:72849235G>A ENST00000344575.3 + 1 1127 c.898G>A c.(898-900)Gcg>Acg p.A300T NM_003508.2 NP_003499.1 O00144 FZD9_HUMAN frizzled family receptor 9 300 B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 14 Lung NSC(55;0.0659)|all_lung(88;0.152) GGAGGCGGGCGCGCTCTACGT 0.632 27 43 --- --- --- --- TFR2 7036 broad.mit.edu 37 7 100218565 100218565 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr7:100218565C>T ENST00000462107.1 - 19 2608 c.2321G>A c.(2320-2322)cGt>cAt p.R774H TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.R774H|TFR2_ENST00000544242.1_Missense_Mutation_p.R315H Q9UP52 TFR2_HUMAN transferrin receptor 2 774 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GGCTAGCTGACGCCGGAAACG 0.657 10 16 --- --- --- --- MUC3A 4584 broad.mit.edu 37 7 100607859 100607859 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr7:100607859C>T ENST00000319509.7 + 5 2006 c.2006C>T c.(2005-2007)gCc>gTc p.A669V RP11-395B7.2_ENST00000420080.1_RNA mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 CTCCAGAACGCCAGCCAGGAT 0.662 9 21 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100685313 100685313 + Missense_Mutation SNP C C T rs138135476 TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr7:100685313C>T ENST00000306151.4 + 3 10680 c.10616C>T c.(10615-10617)aCa>aTa p.T3539I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3539 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACCCTTTCAACAACTCCTGTT 0.483 19 386 --- --- --- --- C7orf60 154743 broad.mit.edu 37 7 112579785 112579785 + Silent SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr7:112579785G>A ENST00000297145.4 - 1 186 c.21C>T c.(19-21)ggC>ggT p.G7G NM_152556.2 NP_689769.2 Q1RMZ1 CG060_HUMAN chromosome 7 open reading frame 60 7 breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 17 CAGTATTTCGGCCGCCGGCCC 0.726 6 9 --- --- --- --- GCC1 79571 broad.mit.edu 37 7 127223060 127223060 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr7:127223060C>T ENST00000321407.2 - 2 1760 c.1336G>A c.(1336-1338)Gcg>Acg p.A446T GCC1_ENST00000497650.1_5'UTR NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 446 Golgi membrane|plasma membrane protein binding breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TTCCTGGCCGCAACCTGCAGC 0.557 20 64 --- --- --- --- ZNF777 27153 broad.mit.edu 37 7 149133690 149133690 + Silent SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr7:149133690G>A ENST00000247930.4 - 5 1638 c.1315C>T c.(1315-1317)Ctg>Ttg p.L439L NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 439 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TGCTGCACCAGCATCTGCTTC 0.657 24 51 --- --- --- --- GIMAP8 155038 broad.mit.edu 37 7 150174667 150174667 + Missense_Mutation SNP T T G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr7:150174667T>G ENST00000307271.3 + 5 2371 c.1797T>G c.(1795-1797)tgT>tgG p.C599W NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 599 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GGCGAGTTTGTGCTTTTAACA 0.473 27 55 --- --- --- --- SLC7A2 6542 broad.mit.edu 37 8 17400870 17400870 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr8:17400870C>T ENST00000470360.1 + 4 259 c.142C>T c.(142-144)Ctg>Ttg p.L48L SLC7A2_ENST00000004531.10_Silent_p.L48L|SLC7A2_ENST00000494857.1_Silent_p.L8L|SLC7A2_ENST00000398090.3_Silent_p.L48L|SLC7A2_ENST00000522656.1_Silent_p.L8L P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 8 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) CAGAGCCGCGCTGACCTTTGC 0.522 14 13 --- --- --- --- UNC5D 137970 broad.mit.edu 37 8 35425622 35425622 + Missense_Mutation SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr8:35425622A>G ENST00000287272.2 + 3 349 c.329A>G c.(328-330)aAg>aGg p.K110R UNC5D_ENST00000420357.1_Missense_Mutation_p.K110R|UNC5D_ENST00000404895.2_Missense_Mutation_p.K110R|UNC5D_ENST00000453357.2_Missense_Mutation_p.K105R|UNC5D_ENST00000416672.1_Missense_Mutation_p.K110R Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 110 Ig-like. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TCAGGTTTGAAGGTCCGCGAA 0.463 11 131 --- --- --- --- POTEA 340441 broad.mit.edu 37 8 43147834 43147834 + RNA SNP C C G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr8:43147834C>G ENST00000522175.2 + 0 209 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGGGCAAGCTCCACAGAGCTG 0.582 17 40 --- --- --- --- SPIDR 23514 broad.mit.edu 37 8 48625401 48625401 + Missense_Mutation SNP A A C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr8:48625401A>C ENST00000297423.4 + 15 2539 c.2155A>C c.(2155-2157)Agc>Cgc p.S719R SPIDR_ENST00000518074.1_Missense_Mutation_p.S659R|SPIDR_ENST00000517693.1_Missense_Mutation_p.S194R|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.S649R NM_001080394.2|NM_001282916.1 NP_001073863.1|NP_001269845.1 scaffolding protein involved in DNA repair TGCCCCTCACAGCCTCTTCTT 0.607 17 46 --- --- --- --- VCPIP1 80124 broad.mit.edu 37 8 67577666 67577666 + Missense_Mutation SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr8:67577666A>G ENST00000310421.4 - 1 1786 c.1528T>C c.(1528-1530)Ttt>Ctt p.F510L NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 510 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) TTCAAGGGAAAGCTGTAATTT 0.423 65 147 --- --- --- --- DCSTAMP 81501 broad.mit.edu 37 8 105367308 105367308 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr8:105367308C>T ENST00000297581.2 + 3 1282 c.1233C>T c.(1231-1233)agC>agT p.S411S DCSTAMP_ENST00000517991.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR|DPYS_ENST00000521601.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 411 osteoclast differentiation cell surface|integral to membrane|plasma membrane p.S411R(1) TCTACCCCAGCGTGGAGAGGA 0.438 27 44 --- --- --- --- FAM135B 51059 broad.mit.edu 37 8 139164500 139164500 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr8:139164500G>A ENST00000395297.1 - 13 2388 c.2218C>T c.(2218-2220)Cca>Tca p.P740S NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 740 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ATGCCGCTTGGCAAACTTGTG 0.522 HNSCC(54;0.14) 11 31 --- --- --- --- PPP1R16A 84988 broad.mit.edu 37 8 145722826 145722826 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr8:145722826C>T ENST00000292539.4 + 2 1166 c.249C>T c.(247-249)gaC>gaT p.D83D CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Silent_p.D83D|CTD-2517M22.14_ENST00000532766.1_RNA Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory subunit 16A 83 plasma membrane protein binding NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CCCGAAATGACCTGGAAGAAG 0.662 5 22 --- --- --- --- COL27A1 85301 broad.mit.edu 37 9 117072950 117072950 + Missense_Mutation SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr9:117072950A>G ENST00000356083.3 + 61 5949 c.5558A>G c.(5557-5559)gAa>gGa p.E1853G NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1853 Fibrillar collagen NC1. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 TACCGCCTGGAAGTTGGACCT 0.607 11 29 --- --- --- --- AKNA 80709 broad.mit.edu 37 9 117129977 117129977 + Splice_Site SNP C C A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr9:117129977C>A ENST00000307564.4 - 6 1735 c.1574G>T c.(1573-1575)gGg>gTg p.G525V AKNA_ENST00000374088.3_Splice_Site_p.G525V|AKNA_ENST00000374075.5_Splice_Site_p.G444V|AKNA_ENST00000312033.3_Splice_Site_p.G525V|AKNA_ENST00000223791.3_5'UTR NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 525 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 TGATGGCCACCCTGGAATACA 0.582 18 17 --- --- --- --- DBH 1621 broad.mit.edu 37 9 136501639 136501639 + Missense_Mutation SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr9:136501639A>G ENST00000393056.2 + 1 158 c.146A>G c.(145-147)tAt>tGt p.Y49C NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 49 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CCCCTCCCCTATCACATCCCC 0.642 4 29 --- --- --- --- USP6NL 9712 broad.mit.edu 37 10 11505706 11505706 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr10:11505706C>T ENST00000609104.1 - 15 1615 c.1221G>A c.(1219-1221)gcG>gcA p.A407A USP6NL_ENST00000277575.5_Silent_p.A424A|USP6NL_ENST00000379237.2_Silent_p.A430A NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 TCCTGTGGGGCGCCCCGCTCT 0.692 7 25 --- --- --- --- FAM171A1 221061 broad.mit.edu 37 10 15254959 15254959 + Nonsense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr10:15254959C>T ENST00000378116.4 - 8 2634 c.2628G>A c.(2626-2628)tgG>tgA p.W876* NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 876 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 CCCGTTTCTGCCAGGGGCTTT 0.512 32 72 --- --- --- --- DDX50 79009 broad.mit.edu 37 10 70679687 70679687 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr10:70679687G>A ENST00000373585.3 + 8 1296 c.1189G>A c.(1189-1191)Gag>Aag p.E397K DDX50_ENST00000466265.1_3'UTR NM_024045.1 NP_076950.1 Q9BQ39 DDX50_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 397 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 TATTTTCTGTGAGACCAAGAA 0.413 16 71 --- --- --- --- PIPSL 266971 broad.mit.edu 37 10 95721253 95721253 + RNA SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr10:95721253G>A ENST00000480546.1 - 0 44 NR_002319.2 GGAGGCCGACGCCATCTTGGC 0.572 6 90 --- --- --- --- CWF19L1 55280 broad.mit.edu 37 10 101995439 101995439 + Missense_Mutation SNP G G T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr10:101995439G>T ENST00000354105.4 - 13 1543 c.1457C>A c.(1456-1458)cCt>cAt p.P486H CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Missense_Mutation_p.P201H NM_018294.4 NP_060764.3 Q69YN2 C19L1_HUMAN CWF19-like 1, cell cycle control (S. pombe) 486 catalytic activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2) 17 Colorectal(252;0.117) Epithelial(162;3.78e-10)|all cancers(201;3.1e-08) AAACTGCAAAGGAAAATTCTT 0.363 5 23 --- --- --- --- SEMA4G 57715 broad.mit.edu 37 10 102737391 102737391 + Silent SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr10:102737391G>A ENST00000210633.3 + 4 417 c.339G>A c.(337-339)acG>acA p.T113T SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000370250.4_Silent_p.T113T|SEMA4G_ENST00000517724.1_Silent_p.T113T Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 113 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) TCCCACAGACGGAGTGCTTTA 0.572 29 56 --- --- --- --- JAKMIP3 282973 broad.mit.edu 37 10 133976844 133976844 + Silent SNP C C A rs143722443 TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr10:133976844C>A ENST00000298622.4 + 19 2484 c.2346C>A c.(2344-2346)gtC>gtA p.V782V JAKMIP3_ENST00000477275.1_3'UTR NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) AGCGCCAGGTCATGAGTGAGC 0.687 3 9 --- --- --- --- CD81-AS1 101927682 broad.mit.edu 37 11 2356903 2356903 + RNA SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr11:2356903C>T ENST00000413483.1 - 0 407 RPL26P30_ENST00000602923.1_RNA GATCTTCCTGCGCACGTGTGA 0.562 28 98 --- --- --- --- CARS 833 broad.mit.edu 37 11 3028112 3028112 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr11:3028112C>T ENST00000397114.3 - 19 2243 c.1867G>A c.(1867-1869)Gaa>Aaa p.E623K CARS_ENST00000470221.2_5'UTR|CARS_ENST00000278224.9_Missense_Mutation_p.E633K|CARS_ENST00000401769.3_Missense_Mutation_p.E646K|CARS_ENST00000380525.4_Missense_Mutation_p.E716K|CARS_ENST00000397111.5_Missense_Mutation_p.E633K P49589 SYCC_HUMAN cysteinyl-tRNA synthetase 633 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding CARS/ALK(5) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1) 31 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) CACCCACCTTCGTGGTCTTCA 0.582 T ALK ALCL 7 136 --- --- --- --- DNHD1 144132 broad.mit.edu 37 11 6592024 6592024 + Missense_Mutation SNP T T A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr11:6592024T>A ENST00000254579.6 + 42 13846 c.13282T>A c.(13282-13284)Tct>Act p.S4428T DNHD1_ENST00000527990.2_Missense_Mutation_p.S4428T NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 4428 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GGTTCCTGAGTCTCGAAGAGG 0.637 12 18 --- --- --- --- COPB1 1315 broad.mit.edu 37 11 14491076 14491076 + Missense_Mutation SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr11:14491076T>C ENST00000249923.3 - 15 2071 c.1771A>G c.(1771-1773)Act>Gct p.T591A COPB1_ENST00000439561.2_Missense_Mutation_p.T591A NM_016451.4 NP_057535.1 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 591 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 TGCAGGATAGTAGCCATGAGC 0.398 5 52 --- --- --- --- ABCC8 6833 broad.mit.edu 37 11 17428224 17428224 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr11:17428224C>T ENST00000302539.4 - 26 3402 c.3277G>A c.(3277-3279)Gtg>Atg p.V1093M ABCC8_ENST00000389817.3_Missense_Mutation_p.V1092M NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1092 ABC transmembrane type-1 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CTCTTGGCCACCTTCAGCCCT 0.607 13 38 --- --- --- --- KCNC1 3746 broad.mit.edu 37 11 17793341 17793341 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr11:17793341C>T ENST00000379472.3 + 2 730 c.700C>T c.(700-702)Cgc>Tgc p.R234C KCNC1_ENST00000265969.6_Missense_Mutation_p.R234C NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 234 voltage-gated potassium channel complex voltage-gated potassium channel activity p.R234C(1) breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 CACGCAAGTGCGCTACTACCG 0.582 23 83 --- --- --- --- DAGLA 747 broad.mit.edu 37 11 61495643 61495643 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr11:61495643G>A ENST00000257215.5 + 7 771 c.655G>A c.(655-657)Gcc>Acc p.A219T NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 219 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) CTCAGAAATCGCCTACCTCTT 0.617 5 77 --- --- --- --- LTBP3 4054 broad.mit.edu 37 11 65307998 65307998 + Missense_Mutation SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr11:65307998T>C ENST00000301873.5 - 22 3333 c.3065A>G c.(3064-3066)aAg>aGg p.K1022R LTBP3_ENST00000536982.1_Missense_Mutation_p.K648R|LTBP3_ENST00000532932.1_Missense_Mutation_p.K452R|LTBP3_ENST00000322147.4_Missense_Mutation_p.K1022R|LTBP3_ENST00000530785.1_Missense_Mutation_p.K25R|LTBP3_ENST00000529189.1_Missense_Mutation_p.K25R NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 1022 EGF-like 10; calcium-binding (Potential). extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 GAAGCCCTGCTTGCAGTAGCA 0.652 OREG0021080 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 39 --- --- --- --- MTL5 9633 broad.mit.edu 37 11 68506190 68506190 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr11:68506190G>A ENST00000255087.5 - 6 1078 c.895C>T c.(895-897)Cca>Tca p.P299S MTL5_ENST00000443940.2_3'UTR|MTL5_ENST00000544963.1_Missense_Mutation_p.P299S|MTL5_ENST00000540869.1_5'UTR NM_004923.3 NP_004914.2 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific (tesmin) 299 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) ATTTTTGGTGGTCCTGGAAGA 0.413 4 37 --- --- --- --- SHANK2 22941 broad.mit.edu 37 11 70331617 70331617 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr11:70331617G>A ENST00000338508.4 - 32 4783 c.4784C>T c.(4783-4785)gCc>gTc p.A1595V SHANK2_ENST00000423696.2_Missense_Mutation_p.A1215V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A999V|SHANK2_ENST00000409161.1_Missense_Mutation_p.A998V Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1215 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GAGAACCTTGGCCATCCCAGG 0.577 4 55 --- --- --- --- NPAT 4863 broad.mit.edu 37 11 108068119 108068119 + Silent SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr11:108068119A>G ENST00000278612.8 - 2 171 c.66T>C c.(64-66)tcT>tcC p.S22S NPAT_ENST00000610253.1_5'UTR NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 22 Interaction with MIZF.|LisH.|Required for activation of histone gene transcription and interaction with MIZF. S -> Y (in Ref. 6; AAB02735). positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|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) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TCTGGCAGGTAGAAATGAGGT 0.308 12 65 --- --- --- --- KMT2A 4297 broad.mit.edu 37 11 118343381 118343381 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr11:118343381C>T ENST00000534358.1 + 3 1530 c.1507C>T c.(1507-1509)Cgg>Tgg p.R503W KMT2A_ENST00000389506.5_Missense_Mutation_p.R503W|KMT2A_ENST00000354520.4_Missense_Mutation_p.R503W NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A TCCTGAGGAGCGGAGCGATAC 0.502 22 103 --- --- --- --- VWF 7450 broad.mit.edu 37 12 6135163 6135163 + Missense_Mutation SNP T T A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr12:6135163T>A ENST00000261405.5 - 23 3271 c.3017A>T c.(3016-3018)gAc>gTc p.D1006V NM_000552.3 NP_000543 P04275 VWF_HUMAN von Willebrand factor 1006 VWFD 3. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GCTGGTGAGGTCATTGTTCTG 0.527 15 47 --- --- --- --- ADCY6 112 broad.mit.edu 37 12 49169815 49169815 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr12:49169815C>T ENST00000307885.4 - 8 2431 c.1737G>A c.(1735-1737)ggG>ggA p.G579G ADCY6_ENST00000357869.3_Silent_p.G579G|ADCY6_ENST00000550422.1_Silent_p.G579G|ADCY6_ENST00000552090.1_5'UTR NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 579 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 GCGGCATCAGCCCTTCCATGG 0.647 8 13 --- --- --- --- ESYT1 23344 broad.mit.edu 37 12 56532267 56532267 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr12:56532267G>A ENST00000394048.5 + 22 2681 c.2417G>A c.(2416-2418)cGg>cAg p.R806Q ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000541590.1_Missense_Mutation_p.R816Q|ESYT1_ENST00000267113.4_Missense_Mutation_p.R816Q NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 806 C2 4. integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 TATATGGAGCGGGCAGAGGAC 0.587 4 21 --- --- --- --- CNPY2 10330 broad.mit.edu 37 12 56705008 56705008 + Missense_Mutation SNP G G T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr12:56705008G>T ENST00000273308.4 - 4 935 c.395C>A c.(394-396)aCc>aAc p.T132N RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.T132N|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA NM_014255.5 NP_055070.1 Q9Y2B0 CNPY2_HUMAN canopy FGF signaling regulator 2 132 Saposin B-type. endoplasmic reticulum|integral to plasma membrane protein binding large_intestine(2)|lung(2) 4 AAACTTGAGGGTGCCGCTAAT 0.493 51 90 --- --- --- --- SLC16A7 9194 broad.mit.edu 37 12 60098741 60098741 + Silent SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr12:60098741T>C ENST00000261187.4 + 2 323 c.159T>C c.(157-159)acT>acC p.T53T SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000549465.1_Silent_p.T53T|SLC16A7_ENST00000552024.1_Silent_p.T53T|SLC16A7_ENST00000552432.1_Silent_p.T53T|SLC16A7_ENST00000547379.1_Silent_p.T53T NM_004731.4 NP_004722.2 O60669 MOT2_HUMAN solute carrier family 16 (monocarboxylate transporter), member 7 53 integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) TATTCCACACTACCTACAGTG 0.383 24 46 --- --- --- --- HCFC2 29915 broad.mit.edu 37 12 104474531 104474531 + Missense_Mutation SNP G G C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr12:104474531G>C ENST00000229330.4 + 5 794 c.690G>C c.(688-690)atG>atC p.M230I NM_013320.2 NP_037452.1 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 230 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 TAGAAACTATGTCATGGTCAA 0.323 15 17 --- --- --- --- PLBD2 196463 broad.mit.edu 37 12 113810526 113810526 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr12:113810526G>A ENST00000280800.3 + 3 488 c.457G>A c.(457-459)Gag>Aag p.E153K PLBD2_ENST00000545182.2_Missense_Mutation_p.E153K NM_173542.3 NP_775813.2 Q8NHP8 PLBL2_HUMAN phospholipase B domain containing 2 153 lipid catabolic process lysosomal lumen hydrolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 CGGCTACTGCGAGAGGCTGAA 0.572 32 72 --- --- --- --- MSI1 4440 broad.mit.edu 37 12 120791157 120791157 + Silent SNP G G T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr12:120791157G>T ENST00000257552.2 - 10 766 c.678C>A c.(676-678)acC>acA p.T226T MSI1_ENST00000546622.1_5'UTR NM_002442.3 NP_002433.1 O43347 MSI1H_HUMAN musashi RNA-binding protein 1 226 nervous system development cytoplasm|nucleus nucleotide binding breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGCTGGCGTAGGTTGTGGCTT 0.597 17 51 --- --- --- --- EIF2B1 1967 broad.mit.edu 37 12 124106408 124106408 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr12:124106408C>T ENST00000424014.2 - 9 1021 c.813G>A c.(811-813)ccG>ccA p.P271P EIF2B1_ENST00000539951.1_3'UTR NM_001414.3 NP_001405.1 Q14232 EI2BA_HUMAN eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa 271 cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane protein binding|translation initiation factor activity breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489) AGTCGACCCACGGATGCTCCT 0.512 4 22 --- --- --- --- SFSWAP 6433 broad.mit.edu 37 12 132212946 132212946 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr12:132212946C>T ENST00000261674.4 + 7 1195 c.1054C>T c.(1054-1056)Ccc>Tcc p.P352S SFSWAP_ENST00000541286.1_Missense_Mutation_p.P352S NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 352 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 GCCTGTGCAGCCCTCCCAGGT 0.587 23 25 --- --- --- --- MPHOSPH8 54737 broad.mit.edu 37 13 20235872 20235872 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr13:20235872C>T ENST00000361479.5 + 8 1894 c.1826C>T c.(1825-1827)gCc>gTc p.A609V MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A609V NM_017520.3 NP_059990.2 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 609 cell cycle cytoplasm|nucleus breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) ATGCTTGCCGCCGCCGGAGGG 0.502 18 120 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25672097 25672097 + Silent SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr13:25672097A>G ENST00000281589.3 + 1 1798 c.1761A>G c.(1759-1761)gaA>gaG p.E587E NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 587 PABC. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) ATAATTCAGAACTTCTTTATA 0.448 6 109 --- --- --- --- FREM2 341640 broad.mit.edu 37 13 39261856 39261856 + Silent SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr13:39261856G>A ENST00000280481.7 + 1 591 c.375G>A c.(373-375)aaG>aaA p.K125K NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 125 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) TGAGTCCCAAGCGCTTCCCGT 0.697 3 2 --- --- --- --- PCID2 55795 broad.mit.edu 37 13 113849441 113849441 + Splice_Site SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr13:113849441T>C ENST00000375457.2 - 6 899 c.e6-2 PCID2_ENST00000375479.2_Splice_Site|PCID2_ENST00000375477.1_Splice_Site|PCID2_ENST00000337344.4_Splice_Site|PCID2_ENST00000375459.1_Splice_Site|PCID2_ENST00000246505.5_Splice_Site NM_001258213.1 NP_001245142.1 Q5JVF3 PCID2_HUMAN PCI domain containing 2 negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10) 20 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) GGCAGAGCCCTGCAGGGCAAA 0.453 14 26 --- --- --- --- OR4E2 26686 broad.mit.edu 37 14 22133362 22133362 + Silent SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr14:22133362G>A ENST00000408935.1 + 1 66 c.66G>A c.(64-66)gtG>gtA p.V22V NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) ATAACCGGGTGCTGGAAATGC 0.418 37 69 --- --- --- --- REC8 9985 broad.mit.edu 37 14 24642164 24642164 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr14:24642164C>T ENST00000311457.3 + 4 781 c.182C>T c.(181-183)cCg>cTg p.P61L REC8_ENST00000559919.1_Missense_Mutation_p.P61L O95072 REC8_HUMAN REC8 meiotic recombination protein 61 mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(265;0.00839) CCCGGCCTGCCGCGGCCCCGC 0.602 28 48 --- --- --- --- FOXG1 2290 broad.mit.edu 37 14 29237390 29237390 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr14:29237390G>A ENST00000382535.3 + 2 1274 c.905G>A c.(904-906)cGc>cAc p.R302H FOXG1_ENST00000313071.4_Missense_Mutation_p.R302H P55316 FOXG1_HUMAN forkhead box G1 302 RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038). axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) TTCATGGACCGCGCCGGCTCC 0.701 23 55 --- --- --- --- BAZ1A 11177 broad.mit.edu 37 14 35255348 35255348 + Nonsense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr14:35255348C>T ENST00000360310.1 - 13 2157 c.1590G>A c.(1588-1590)tgG>tgA p.W530* BAZ1A_ENST00000382422.2_Nonsense_Mutation_p.W530*|BAZ1A_ENST00000358716.4_Intron NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 530 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) GTAACTGTGGCCATGCAGCTG 0.358 5 27 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38061250 38061250 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr14:38061250G>A ENST00000250448.2 - 2 800 c.739C>T c.(739-741)Cac>Tac p.H247Y FOXA1_ENST00000540786.1_Missense_Mutation_p.H214Y|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 247 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) GAGTCCGGGTGCAGCGTCCAG 0.667 12 19 --- --- --- --- MDGA2 161357 broad.mit.edu 37 14 47504410 47504410 + Silent SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr14:47504410T>C ENST00000426342.1 - 8 1475 c.729A>G c.(727-729)aaA>aaG p.K243K MDGA2_ENST00000439988.3_Silent_p.K541K|MDGA2_ENST00000399232.2_Silent_p.K472K|MDGA2_ENST00000357362.3_Silent_p.K243K NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 472 Ig-like 3. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 GGATGATTGGTTTAGGTTTGC 0.418 6 121 --- --- --- --- KLHDC1 122773 broad.mit.edu 37 14 50176534 50176534 + Missense_Mutation SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr14:50176534A>G ENST00000359332.2 + 3 365 c.275A>G c.(274-276)tAc>tGc p.Y92C NM_172193.2 NP_751943.1 Q8N7A1 KLDC1_HUMAN kelch domain containing 1 92 cytoplasm kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 12 all_epithelial(31;0.00244)|Breast(41;0.00964) GACAAAGGATACAGCAATCGA 0.358 12 32 --- --- --- --- ALKBH1 8846 broad.mit.edu 37 14 78140481 78140481 + Missense_Mutation SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr14:78140481T>C ENST00000216489.3 - 6 859 c.844A>G c.(844-846)Agc>Ggc p.S282G NM_006020.2 NP_006011.2 Q13686 ALKB1_HUMAN alkB, alkylation repair homolog 1 (E. coli) 282 Fe2OG dioxygenase. DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) AAGAGGCGGCTGAAACCCGAC 0.577 11 22 --- --- --- --- C15orf56 644809 broad.mit.edu 37 15 40544701 40544701 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr15:40544701C>T ENST00000319503.3 - 2 292 c.271G>A c.(271-273)Gcg>Acg p.A91T C15orf56_ENST00000559727.1_3'UTR|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000455577.2_Intron|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000560346.1_Intron|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000260404.4_Intron NM_001039905.1 NP_001034994.1 Q8N910 CO056_HUMAN chromosome 15 open reading frame 56 91 lung(1) 1 all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503) ACTTCTCCCGCGCTCTGGGTT 0.662 5 14 --- --- --- --- IGDCC3 9543 broad.mit.edu 37 15 65622631 65622631 + Splice_Site SNP C C A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr15:65622631C>A ENST00000327987.4 - 11 2109 c.1858G>T c.(1858-1860)Gcc>Tcc p.A620S NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 620 breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CAGCCCTCACCTGTCCTCTCA 0.567 9 78 --- --- --- --- ARID3B 10620 broad.mit.edu 37 15 74883589 74883589 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr15:74883589C>T ENST00000346246.5 + 6 1210 c.979C>T c.(979-981)Cgg>Tgg p.R327W NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 327 Interaction with RB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 CAGGGAGGGCCGGCGGCCCAG 0.612 28 96 --- --- --- --- CPEB1 64506 broad.mit.edu 37 15 83221233 83221233 + Missense_Mutation SNP C C A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr15:83221233C>A ENST00000563800.1 - 8 3003 c.1278G>T c.(1276-1278)aaG>aaT p.K426N RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.K399N|CPEB1_ENST00000398592.2_Missense_Mutation_p.K173N|CPEB1_ENST00000564522.1_Missense_Mutation_p.K324N|CPEB1_ENST00000261723.6_Missense_Mutation_p.K402N|CPEB1_ENST00000423133.2_Missense_Mutation_p.K324N|CPEB1_ENST00000562019.1_Missense_Mutation_p.K404N|CPEB1_ENST00000568757.1_Missense_Mutation_p.K324N|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.R134M|CPEB1_ENST00000398591.2_Missense_Mutation_p.K329N|CPEB1_ENST00000450751.2_Missense_Mutation_p.K324N Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding protein 1 404 Necessary for stress granule assembly and correct localization in dcp1 bodies. mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(143;0.229) AACTCACCTCCTTGCAGCGCA 0.522 7 27 --- --- --- --- PKD1 5310 broad.mit.edu 37 16 2143019 2143019 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr16:2143019C>T ENST00000262304.4 - 38 11300 c.11092G>A c.(11092-11094)Gcc>Acc p.A3698T PKD1_ENST00000423118.1_Missense_Mutation_p.A3697T|RP11-304L19.1_ENST00000570072.1_RNA NM_001009944.2 NP_001009944 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 3698 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 AGACGGTAGGCGTGCCCATGG 0.642 11 73 --- --- --- --- THOC6 79228 broad.mit.edu 37 16 3076395 3076395 + Missense_Mutation SNP C C A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr16:3076395C>A ENST00000326266.8 + 6 688 c.392C>A c.(391-393)gCt>gAt p.A131D THOC6_ENST00000574549.1_Missense_Mutation_p.A107D|THOC6_ENST00000575576.1_Missense_Mutation_p.A107D|THOC6_ENST00000253952.9_Missense_Mutation_p.A131D NM_024339.3 NP_077315.2 Q86W42 THOC6_HUMAN THO complex 6 homolog (Drosophila) 131 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex RNA binding central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 13 GAGATCAACGCTTTGCTGCTG 0.542 20 23 --- --- --- --- DNAH3 55567 broad.mit.edu 37 16 21053359 21053359 + Missense_Mutation SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr16:21053359T>C ENST00000261383.3 - 32 4627 c.4628A>G c.(4627-4629)gAc>gGc p.D1543G DNAH3_ENST00000415178.1_Missense_Mutation_p.D1543G NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1543 AAA 1 (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) CTTGAGATTGTCGGGCAGTTC 0.517 20 48 --- --- --- --- IL4R 3566 broad.mit.edu 37 16 27372111 27372111 + Nonsense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr16:27372111C>T ENST00000395762.2 + 10 1133 c.874C>T c.(874-876)Cga>Tga p.R292* IL4R_ENST00000170630.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Nonsense_Mutation_p.R277*|IL4R_ENST00000543915.2_Nonsense_Mutation_p.R292* NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 292 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 GAAGCGGTCCCGAGGCCAGGA 0.557 28 65 --- --- --- --- TGFB1I1 7041 broad.mit.edu 37 16 31485718 31485718 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr16:31485718C>T ENST00000394863.3 + 6 591 c.461C>T c.(460-462)gCc>gTc p.A154V TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A137V|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A137V|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A137V NM_001042454.2 NP_001035919.1 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced transcript 1 154 Interaction with PTK2B.|Transcription activation (By similarity). androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding lung(8)|upper_aerodigestive_tract(1) 9 GCCACCTCAGCCACTCTGGAG 0.577 4 58 --- --- --- --- CDH5 1003 broad.mit.edu 37 16 66413286 66413286 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr16:66413286G>A ENST00000341529.3 + 2 194 c.46G>A c.(46-48)Ggc>Agc p.G16S CDH5_ENST00000563425.2_Missense_Mutation_p.G16S NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 16 adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) CGCCTGCCTGGGCCTGCTGGC 0.627 23 59 --- --- --- --- CMTM1 113540 broad.mit.edu 37 16 66600560 66600560 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr16:66600560C>T ENST00000379500.2 + 1 211 c.144C>T c.(142-144)acC>acT p.T48T CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000336328.6_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000457188.2_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000533953.1_Silent_p.T48T|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000328020.6_Silent_p.T48T NM_052999.3|NM_181268.2 NP_443725.3|NP_851785.2 Q8IZ96 CKLF1_HUMAN CKLF-like MARVEL transmembrane domain containing 1 0 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222) CAGCGAAGACCGCACCCCGGA 0.632 5 55 --- --- --- --- PLEKHG4 25894 broad.mit.edu 37 16 67319227 67319227 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr16:67319227G>A ENST00000360461.5 + 13 4765 c.2230G>A c.(2230-2232)Gag>Aag p.E744K PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E744K NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 744 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) GGTGGCCACGGAGCGGGAGTA 0.622 22 28 --- --- --- --- CENPT 80152 broad.mit.edu 37 16 67865241 67865241 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr16:67865241G>A ENST00000562787.1 - 10 1129 c.581C>T c.(580-582)gCc>gTc p.A194V CENPT_ENST00000219172.3_Missense_Mutation_p.A194V|CENPT_ENST00000564817.1_Missense_Mutation_p.A194V|CENPT_ENST00000445712.2_Missense_Mutation_p.A91V|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000440851.2_Missense_Mutation_p.A194V NM_025082.3 NP_079358.3 Q96BT3 CENPT_HUMAN centromere protein T 194 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding NS(1)|breast(2)|lung(6)|urinary_tract(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) AAGAGGTGTGGCAAAGGTCAG 0.617 17 28 --- --- --- --- CDH1 999 broad.mit.edu 37 16 68844157 68844157 + Missense_Mutation SNP T T G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr16:68844157T>G ENST00000261769.5 + 6 936 c.745T>G c.(745-747)Ttg>Gtg p.L249V CDH1_ENST00000422392.2_Missense_Mutation_p.L249V|CDH1_ENST00000562836.1_3'UTR NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 249 Cadherin 1. adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(4) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) AATGGAGATTTTGATCACGGT 0.483 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 38 82 --- --- --- --- TERF2 7014 broad.mit.edu 37 16 69400909 69400909 + Missense_Mutation SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr16:69400909A>G ENST00000254942.3 - 7 1157 c.1141T>C c.(1141-1143)Tca>Cca p.S381P TERF2_ENST00000603068.1_Missense_Mutation_p.S339P NM_005652.3 NP_005643.2 Q15554 TERF2_HUMAN telomeric repeat binding factor 2 339 age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation Golgi apparatus|nuclear telomere cap complex|nucleoplasm double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity NS(2)|breast(1)|large_intestine(3)|lung(1) 7 Ovarian(137;0.101) GCCGGGGCTGAACTTTCGTTT 0.517 19 31 --- --- --- --- HYDIN 54768 broad.mit.edu 37 16 70934964 70934964 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr16:70934964C>T ENST00000393567.2 - 53 9141 c.8991G>A c.(8989-8991)ctG>ctA p.L2997L NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2997 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AGTACAGGTGCAGGCCGTACT 0.547 18 88 --- --- --- --- ZNF23 7571 broad.mit.edu 37 16 71516014 71516014 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr16:71516014C>T ENST00000561908.1 - 3 506 c.4G>A c.(4-6)Gca>Aca p.A2T ZNF19_ENST00000567225.1_Missense_Mutation_p.A2T|ZNF19_ENST00000565637.1_Intron|ZNF19_ENST00000565100.2_5'UTR|ZNF19_ENST00000288177.5_Missense_Mutation_p.A2T|ZNF19_ENST00000564230.1_Missense_Mutation_p.A2T GGCATGGCTGCCATGACCTGG 0.493 10 11 --- --- --- --- KLHL36 79786 broad.mit.edu 37 16 84690912 84690912 + Missense_Mutation SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr16:84690912A>G ENST00000564996.1 + 3 640 c.499A>G c.(499-501)Atc>Gtc p.I167V KLHL36_ENST00000258157.5_Missense_Mutation_p.I167V NM_024731.2 NP_079007.2 Q8N4N3 KLH36_HUMAN kelch-like family member 36 167 BACK. endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 TGATGCCTTCATCGATGGCTT 0.567 8 49 --- --- --- --- SCARF1 8578 broad.mit.edu 37 17 1543259 1543259 + Silent SNP G G T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr17:1543259G>T ENST00000263071.4 - 6 1135 c.1086C>A c.(1084-1086)tcC>tcA p.S362S SCARF1_ENST00000571272.1_Silent_p.S362S|SCARF1_ENST00000348987.3_Intron NM_003693.2|NM_145350.1 NP_003684.2|NP_663325.1 Q14162 SREC_HUMAN scavenger receptor class F, member 1 362 EGF-like 6. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CAGTATCACAGGACCCCTGAA 0.642 7 35 --- --- --- --- OR3A1 4994 broad.mit.edu 37 17 3195143 3195143 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr17:3195143C>T ENST00000323404.1 - 1 733 c.734G>A c.(733-735)gGc>gAc p.G245D RP11-64J4.2_ENST00000573491.1_RNA NM_002550.2 NP_002541.2 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, member 1 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 20 GAGGTGGGAGCCACATGTGGA 0.493 23 53 --- --- --- --- NEURL4 84461 broad.mit.edu 37 17 7224437 7224437 + Silent SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr17:7224437G>A ENST00000399464.2 - 20 3369 c.3354C>T c.(3352-3354)ggC>ggT p.G1118G NEURL4_ENST00000570460.1_Silent_p.G1094G|NEURL4_ENST00000315614.7_Silent_p.G1116G NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TTACTCCCAGGCCATGCTCCT 0.612 4 45 --- --- --- --- MYH2 4620 broad.mit.edu 37 17 10448739 10448739 + Silent SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr17:10448739G>A ENST00000245503.5 - 5 813 c.429C>T c.(427-429)taC>taT p.Y143Y MYH2_ENST00000397183.2_Silent_p.Y143Y|MYH2_ENST00000532183.2_Silent_p.Y143Y|CTC-297N7.11_ENST00000587182.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 143 Myosin head-like. 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 TTTTGCCTCGGTAGGCTGTCA 0.522 43 88 --- --- --- --- ZNF286A 57335 broad.mit.edu 37 17 15619621 15619621 + Missense_Mutation SNP T T G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr17:15619621T>G ENST00000464847.2 + 5 1136 c.583T>G c.(583-585)Tgg>Ggg p.W195G ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.W195G|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Missense_Mutation_p.W195G|ZNF286A_ENST00000413242.2_Missense_Mutation_p.W195G|ZNF286A_ENST00000593105.1_Missense_Mutation_p.W185G|ZNF286A_ENST00000472486.1_3'UTR Q9HBT8 Z286A_HUMAN zinc finger protein 286A 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781) TGATGTATACTGGAAAAGCTT 0.378 4 60 --- --- --- --- KSR1 8844 broad.mit.edu 37 17 25944348 25944348 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr17:25944348G>A ENST00000398988.3 + 21 2621 c.2176G>A c.(2176-2178)Gac>Aac p.D726N KSR1_ENST00000509603.2_Missense_Mutation_p.D841N|KSR1_ENST00000319524.6_Missense_Mutation_p.D863N|KSR1_ENST00000268763.6_Missense_Mutation_p.D726N|KSR1_ENST00000582410.1_Missense_Mutation_p.D77N NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 861 Protein kinase. Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CTGGGCTTTCGACCTGCAGGA 0.607 4 17 --- --- --- --- RFFL 117584 broad.mit.edu 37 17 33344575 33344575 + Silent SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr17:33344575G>A ENST00000315249.7 - 4 864 c.642C>T c.(640-642)agC>agT p.S214S RFFL_ENST00000413582.2_Silent_p.S214S|RFFL_ENST00000415395.2_Silent_p.S214S|RFFL_ENST00000378516.2_Silent_p.S214S|RFFL_ENST00000584655.1_Intron|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000268850.7_Intron|RFFL_ENST00000447669.2_Silent_p.S214S|RFFL_ENST00000394597.2_Silent_p.S214S Q8WZ73 RFFL_HUMAN ring finger and FYVE-like domain containing E3 ubiquitin protein ligase 214 apoptosis membrane ligase activity|zinc ion binding kidney(1)|large_intestine(2)|lung(3) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) CTCTGGCCACGCTCTCCAGGT 0.527 4 7 --- --- --- --- PLEKHM1 9842 broad.mit.edu 37 17 43515294 43515294 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr17:43515294G>A ENST00000430334.3 - 12 3234 c.3101C>T c.(3100-3102)gCt>gTt p.A1034V PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A945V NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 1034 intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) CTTCACCACAGCCTGGCAGCT 0.647 4 22 --- --- --- --- COPZ2 51226 broad.mit.edu 37 17 46111238 46111238 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr17:46111238G>A ENST00000006101.4 - 4 252 c.253C>T c.(253-255)Cgg>Tgg p.R85W COPZ2_ENST00000584666.1_5'UTR NM_016429.2 NP_057513.1 Q9P299 COPZ2_HUMAN coatomer protein complex, subunit zeta 2 87 intracellular protein transport|vesicle-mediated transport cis-Golgi network|COPI vesicle coat lung(3)|upper_aerodigestive_tract(1) 4 CTCTCAGTCCGGCTGGTCTTG 0.483 3 13 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47677762 47677762 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr17:47677762C>T ENST00000393331.3 - 12 1573 c.1103G>A c.(1102-1104)cGc>cAc p.R368H SPOP_ENST00000504102.1_Missense_Mutation_p.R368H|SPOP_ENST00000347630.2_Missense_Mutation_p.R368H|SPOP_ENST00000393328.2_Missense_Mutation_p.R368H|SPOP_ENST00000503676.1_Missense_Mutation_p.R368H NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 368 mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 CAGGCGTTTGCGTGGGGGTCC 0.542 Prostate(2;0.17) 10 162 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696426 47696426 + Missense_Mutation SNP A A C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr17:47696426A>C ENST00000393331.3 - 7 867 c.397T>G c.(397-399)Ttc>Gtc p.F133V SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133V(4) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 AATTTCTTGAATCCCCAGTCT 0.448 Prostate(2;0.17) 35 68 --- --- --- --- POLG2 11232 broad.mit.edu 37 17 62492847 62492847 + Silent SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr17:62492847A>G ENST00000539111.2 - 1 307 c.240T>C c.(238-240)agT>agC p.S80S NM_007215.3 NP_009146.2 Q9UHN1 DPOG2_HUMAN polymerase (DNA directed), gamma 2, accessory subunit 80 DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation mitochondrial chromosome ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1) 15 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;4.97e-11) GCTTGCTTCCACTTAGGAAAT 0.612 22 62 --- --- --- --- ATP5H 10476 broad.mit.edu 37 17 73035039 73035039 + Silent SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr17:73035039A>G ENST00000301587.4 - 6 521 c.474T>C c.(472-474)atT>atC p.I158I ATP5H_ENST00000344546.4_Silent_p.I134I|KCTD2_ENST00000581589.1_Intron|KCTD2_ENST00000584767.1_Intron NM_006356.2 NP_006347.1 O75947 ATP5H_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d 158 ATP catabolic process|respiratory electron transport chain mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity lung(1)|skin(1) 2 all_lung(278;0.226) ATAAATTCTCAATTGGTTGGT 0.368 17 42 --- --- --- --- EVPL 2125 broad.mit.edu 37 17 74013981 74013981 + Missense_Mutation SNP A A C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr17:74013981A>C ENST00000301607.3 - 14 1802 c.1549T>G c.(1549-1551)Tca>Gca p.S517A EVPL_ENST00000586740.1_Missense_Mutation_p.S539A NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 517 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GCCAGGTCTGAGCCAGATGGA 0.657 10 19 --- --- --- --- RHBDF2 79651 broad.mit.edu 37 17 74467835 74467835 + Silent SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr17:74467835G>A ENST00000591885.1 - 19 2914 c.2364C>T c.(2362-2364)gcC>gcT p.A788A RHBDF2_ENST00000389760.4_Silent_p.A788A|RHBDF2_ENST00000313080.4_Silent_p.A817A Q6PJF5 RHDF2_HUMAN rhomboid 5 homolog 2 (Drosophila) 817 negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1) 27 GCACGAGGGCGGCGAAGAGGC 0.612 3 8 --- --- --- --- DUS1L 64118 broad.mit.edu 37 17 80016030 80016030 + Silent SNP T T G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr17:80016030T>G ENST00000354321.7 - 13 1868 c.1383A>C c.(1381-1383)ccA>ccC p.P461P DUS1L_ENST00000306796.5_Silent_p.P461P Q6P1R4 DUS1L_HUMAN dihydrouridine synthase 1-like (S. cerevisiae) 461 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1) 6 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) AGAAGCCACCTGGTGTTCCAG 0.582 12 39 --- --- --- --- ZNF750 79755 broad.mit.edu 37 17 80788498 80788498 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr17:80788498C>T ENST00000269394.3 - 3 2525 c.1692G>A c.(1690-1692)ccG>ccA p.P564P TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Silent_p.P165P|TBCD_ENST00000355528.4_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 564 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGGCAGGCCTCGGAGCCTGGG 0.627 14 75 --- --- --- --- MYL12B 103910 broad.mit.edu 37 18 3272921 3272921 + Missense_Mutation SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr18:3272921A>G ENST00000581193.1 + 2 408 c.25A>G c.(25-27)Aag>Gag p.K9E MYL12B_ENST00000400175.5_Missense_Mutation_p.K9E|MYL12B_ENST00000584539.1_Missense_Mutation_p.K9E|MYL12B_ENST00000237500.5_Missense_Mutation_p.K9E NM_001144945.1 NP_001138417.1 O14950 ML12B_HUMAN myosin, light chain 12B, regulatory 9 axon guidance|muscle contraction cytosol|myosin complex calcium ion binding breast(1)|large_intestine(1)|lung(2) 4 GGCAAAGACCAAGACCACCAA 0.388 29 73 --- --- --- --- CABLES1 91768 broad.mit.edu 37 18 20768869 20768869 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr18:20768869C>T ENST00000256925.7 + 2 913 c.913C>T c.(913-915)Cgg>Tgg p.R305W CABLES1_ENST00000585061.1_3'UTR|CABLES1_ENST00000400473.2_5'UTR|CABLES1_ENST00000420687.2_Missense_Mutation_p.R40W NM_001100619.2 NP_001094089.1 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 305 Interacts with CDK3 (By similarity). blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1) 11 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) CGCCCCTCTCCGGAGGTAATT 0.398 5 15 --- --- --- --- TRAPPC8 22878 broad.mit.edu 37 18 29488975 29488975 + Splice_Site SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr18:29488975T>C ENST00000283351.4 - 7 1201 c.e7-2 TRAPPC8_ENST00000582539.1_Splice_Site|TRAPPC8_ENST00000582513.1_Splice_Site NM_014939.3 NP_055754 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 ER to Golgi vesicle-mediated transport cis-Golgi network breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GTAAGCCATCTACTGAAAAAG 0.358 11 30 --- --- --- --- CCDC178 374864 broad.mit.edu 37 18 30950099 30950099 + Missense_Mutation SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr18:30950099A>G ENST00000383096.3 - 6 445 c.263T>C c.(262-264)gTa>gCa p.V88A CCDC178_ENST00000402325.1_Missense_Mutation_p.V88A|CCDC178_ENST00000579916.1_Missense_Mutation_p.V88A|CCDC178_ENST00000579947.1_Missense_Mutation_p.V88A|CCDC178_ENST00000300227.8_Missense_Mutation_p.V88A|CCDC178_ENST00000403303.1_Missense_Mutation_p.V88A|CCDC178_ENST00000406524.2_Missense_Mutation_p.V88A|CCDC178_ENST00000583930.1_Missense_Mutation_p.V88A coiled-coil domain containing 178 AATATTTACTACGGCACAGCT 0.378 14 38 --- --- --- --- SLC14A2 8170 broad.mit.edu 37 18 43248313 43248313 + Splice_Site SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr18:43248313G>A ENST00000255226.6 + 15 2723 c.e15-1 SLC14A2_ENST00000589658.1_Splice_Site|SLC14A2_ENST00000586448.1_Splice_Site NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCTCCTGCCAGGTCGGCCATC 0.562 13 21 --- --- --- --- TMX3 54495 broad.mit.edu 37 18 66344197 66344197 + Missense_Mutation SNP C C A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr18:66344197C>A ENST00000299608.2 - 16 1654 c.1338G>T c.(1336-1338)aaG>aaT p.K446N NM_019022.3 NP_061895.3 Q96JJ7 TMX3_HUMAN thioredoxin-related transmembrane protein 3 446 cell redox homeostasis|glycerol ether metabolic process endoplasmic reticulum membrane|integral to membrane electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 17 CTAATACATCCTTGGGCTCCT 0.353 7 74 --- --- --- --- CIRBP 1153 broad.mit.edu 37 19 1271165 1271165 + Nonsense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr19:1271165C>T ENST00000589710.1 + 3 277 c.130C>T c.(130-132)Cag>Tag p.Q44* CIRBP_ENST00000587896.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000587323.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000591935.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000585630.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000586472.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588090.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589235.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000320936.5_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589686.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000413636.2_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000444172.2_Intron|CIRBP_ENST00000589660.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000586773.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588230.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588030.1_Nonsense_Mutation_p.Q44* Q14011 CIRBP_HUMAN cold inducible RNA binding protein 44 RRM. mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly nucleoplasm|stress granule mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity endometrium(1)|large_intestine(1)|lung(3) 5 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014) 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) CAGGGAGACCCAGAGATCTCG 0.567 19 43 --- --- --- --- DOT1L 84444 broad.mit.edu 37 19 2222180 2222180 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr19:2222180C>T ENST00000398665.3 + 24 3048 c.3012C>T c.(3010-3012)caC>caT p.H1004H NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 1004 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCCGCCCACCAGCTCTCCT 0.701 12 16 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9058758 9058758 + Missense_Mutation SNP G G C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr19:9058758G>C ENST00000397910.4 - 3 28891 c.28688C>G c.(28687-28689)aCa>aGa p.T9563R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9565 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCCAGGCATTGTTGTGGAAAC 0.493 31 34 --- --- --- --- ZNF44 51710 broad.mit.edu 37 19 12383898 12383898 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr19:12383898C>T ENST00000356109.5 - 5 1434 c.1316G>A c.(1315-1317)gGc>gAc p.G439D ZNF44_ENST00000355684.5_Missense_Mutation_p.G391D NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 439 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) TTTATGAGGGCCATCTCCAGT 0.428 31 68 --- --- --- --- CD97 976 broad.mit.edu 37 19 14517970 14517970 + Missense_Mutation SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr19:14517970T>C ENST00000242786.5 + 18 2385 c.2305T>C c.(2305-2307)Tat>Cat p.Y769H CD97_ENST00000358600.3_Missense_Mutation_p.Y676H|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.Y720H NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 769 cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 GGTGCTGACCTATGTGTTTAC 0.617 9 86 --- --- --- --- GMIP 51291 broad.mit.edu 37 19 19748735 19748735 + Silent SNP C C A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr19:19748735C>A ENST00000203556.4 - 10 1058 c.921G>T c.(919-921)ctG>ctT p.L307L GMIP_ENST00000587238.1_Silent_p.L307L|GMIP_ENST00000445806.2_Silent_p.L307L NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 307 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 TCACCCGCCTCAGCACTTCAT 0.672 8 15 --- --- --- --- GPATCH1 55094 broad.mit.edu 37 19 33608948 33608948 + Splice_Site SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr19:33608948G>A ENST00000170564.2 + 16 2727 c.e16+1 NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) GTGGCTCACGGTATGTCAGTA 0.478 7 20 --- --- --- --- LMTK3 114783 broad.mit.edu 37 19 49012151 49012151 + Missense_Mutation SNP G G T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr19:49012151G>T ENST00000600059.1 - 5 741 c.514C>A c.(514-516)Ccc>Acc p.P172T LMTK3_ENST00000270238.3_Missense_Mutation_p.P201T lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) TGCTCCAGGGGCCCCGCGCTG 0.597 19 32 --- --- --- --- TRPM4 54795 broad.mit.edu 37 19 49714069 49714069 + Missense_Mutation SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr19:49714069A>G ENST00000252826.5 + 22 3557 c.3431A>G c.(3430-3432)gAc>gGc p.D1144G TRPM4_ENST00000427978.2_Missense_Mutation_p.D999G|TRPM4_ENST00000355712.5_Missense_Mutation_p.D790G NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 1144 Calmodulin-binding. dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CGGGAGAGCGACTCCGAGCGT 0.612 3 14 --- --- --- --- AP2A1 160 broad.mit.edu 37 19 50302915 50302915 + Silent SNP G G T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr19:50302915G>T ENST00000354293.5 + 10 1330 c.1164G>T c.(1162-1164)cgG>cgT p.R388R AP2A1_ENST00000359032.5_Silent_p.R388R NM_130787.2 NP_570603.2 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 subunit 388 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2) 19 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;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) TGCGGCAGCGGGCGGCTGACC 0.652 5 56 --- --- --- --- ADRA1D 146 broad.mit.edu 37 20 4202253 4202253 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr20:4202253C>T ENST00000379453.4 - 2 1752 c.1636G>A c.(1636-1638)Gtc>Atc p.V546I NM_000678.3 NP_000669.1 P25100 ADA1D_HUMAN adrenoceptor alpha 1D 546 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) TCGTGTGGGACGCCTAGGGAC 0.667 3 23 --- --- --- --- KIF16B 55614 broad.mit.edu 37 20 16359674 16359674 + Missense_Mutation SNP C C A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr20:16359674C>A ENST00000354981.2 - 19 3130 c.2973G>T c.(2971-2973)aaG>aaT p.K991N KIF16B_ENST00000378003.2_Missense_Mutation_p.K217N|KIF16B_ENST00000355755.3_Missense_Mutation_p.K991N|KIF16B_ENST00000408042.1_Missense_Mutation_p.K991N NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 991 Glu-rich. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 CCAAAATCTCCTTTTCCTTTT 0.547 31 78 --- --- --- --- NANP 140838 broad.mit.edu 37 20 25596622 25596622 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr20:25596622G>A ENST00000304788.3 - 2 912 c.686C>T c.(685-687)tCt>tTt p.S229F NM_152667.2 NP_689880.1 Q8TBE9 NANP_HUMAN N-acetylneuraminic acid phosphatase 229 N-acetylneuraminate biosynthetic process N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity endometrium(2)|lung(2)|prostate(1) 5 CTCTAGCACAGAAGAAACCAT 0.408 14 63 --- --- --- --- MTG2 26164 broad.mit.edu 37 20 60773005 60773005 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr20:60773005C>T ENST00000370823.3 + 4 468 c.450C>T c.(448-450)ggC>ggT p.G150G MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Intron NM_015666.3 NP_056481.1 mitochondrial ribosome-associated GTPase 2 GGCGCAGTGGCGCCGTCCTCT 0.622 12 35 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20939447 20939447 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr22:20939447C>T ENST00000263205.7 + 16 2093 c.2024C>T c.(2023-2025)cCc>cTc p.P675L MED15_ENST00000406969.1_Missense_Mutation_p.P609L|MED15_ENST00000541476.1_Missense_Mutation_p.P609L|MED15_ENST00000292733.7_Missense_Mutation_p.P635L|MED15_ENST00000382974.2_Missense_Mutation_p.P564L|MED15_ENST00000425759.2_Missense_Mutation_p.P524L|MED15_ENST00000542773.1_3'UTR NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 675 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) CAGAGCATCCCCAGTGTGCTC 0.642 19 27 --- --- --- --- MTMR3 8897 broad.mit.edu 37 22 30416462 30416462 + Silent SNP C C A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr22:30416462C>A ENST00000333027.3 + 17 3142 c.2814C>A c.(2812-2814)gcC>gcA p.A938A CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Silent_p.A802A|MTMR3_ENST00000401950.2_Silent_p.A938A|MTMR3_ENST00000351488.3_Silent_p.A938A|MTMR3_ENST00000406629.1_Silent_p.A938A|CTA-85E5.10_ENST00000429350.1_RNA NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 938 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) AAAACAGGGCCTCAGAGCAGC 0.587 20 47 --- --- --- --- RNF215 200312 broad.mit.edu 37 22 30776081 30776081 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr22:30776081C>T ENST00000382363.3 - 7 1052 c.978G>A c.(976-978)gcG>gcA p.A326A NM_001017981.1 NP_001017981.1 Q9Y6U7 RN215_HUMAN ring finger protein 215 326 integral to membrane zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2) 6 CCAGGCACACCGCACAGGTCT 0.647 5 72 --- --- --- --- RNF215 200312 broad.mit.edu 37 22 30776149 30776149 + Missense_Mutation SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr22:30776149T>C ENST00000382363.3 - 7 984 c.910A>G c.(910-912)Aag>Gag p.K304E NM_001017981.1 NP_001017981.1 Q9Y6U7 RN215_HUMAN ring finger protein 215 304 integral to membrane zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2) 6 CGCCGTGTCTTGAGGGATGCC 0.657 10 65 --- --- --- --- GAL3ST1 9514 broad.mit.edu 37 22 30951602 30951602 + Missense_Mutation SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr22:30951602A>G ENST00000402321.1 - 3 927 c.610T>C c.(610-612)Tac>Cac p.Y204H GAL3ST1_ENST00000443111.2_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.Y204H Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 204 protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 TTGGGGTCGTAGTAGCGATCC 0.627 6 67 --- --- --- --- IL2RB 3560 broad.mit.edu 37 22 37524301 37524301 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr22:37524301C>T ENST00000216223.5 - 10 1689 c.1491G>A c.(1489-1491)ggG>ggA p.G497G NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta 497 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) GGACCTCCTCCCCAGCCTCTC 0.692 6 15 --- --- --- --- TAB1 10454 broad.mit.edu 37 22 39814776 39814776 + Missense_Mutation SNP G G T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr22:39814776G>T ENST00000216160.6 + 6 652 c.590G>T c.(589-591)gGg>gTg p.G197V TAB1_ENST00000331454.3_Missense_Mutation_p.G197V NM_006116.2 NP_006107.1 Q15750 TAB1_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 1 197 PP2C-like. activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 ACAGTGGATGGGTTGCAGGTG 0.527 12 39 --- --- --- --- WBP2NL 164684 broad.mit.edu 37 22 42423017 42423017 + Silent SNP C C A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr22:42423017C>A ENST00000328823.9 + 6 793 c.762C>A c.(760-762)gcC>gcA p.A254A WBP2NL_ENST00000543212.1_Silent_p.A180A NM_152613.2 NP_689826.2 Q6ICG8 WBP2L_HUMAN WBP2 N-terminal like 254 10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich. egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1) 14 GATATGGAGCCCCACCTCTCG 0.597 9 187 --- --- --- --- RAB9A 9367 broad.mit.edu 37 X 13727114 13727114 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chrX:13727114C>T ENST00000464506.1 + 3 528 c.249C>T c.(247-249)tgC>tgT p.C83C RAB9A_ENST00000243325.5_3'UTR NM_001195328.1|NM_004251.4 NP_001182257.1|NP_004242.1 P51151 RAB9A_HUMAN RAB9A, member RAS oncogene family 83 protein transport|small GTPase mediated signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane GDP binding|GTP binding|GTPase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 7 CTGACTGCTGCCTGCTTACTT 0.438 15 80 --- --- --- --- GPR64 10149 broad.mit.edu 37 X 19037719 19037719 + Silent SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chrX:19037719C>T ENST00000379878.3 - 14 901 c.660G>A c.(658-660)caG>caA p.Q220Q GPR64_ENST00000379873.2_Silent_p.Q236Q|GPR64_ENST00000360279.4_Silent_p.Q214Q|GPR64_ENST00000379869.3_Silent_p.Q236Q|GPR64_ENST00000340581.3_Silent_p.Q206Q|GPR64_ENST00000357991.3_Silent_p.Q233Q|GPR64_ENST00000357544.3_Silent_p.Q206Q|GPR64_ENST00000379876.1_Silent_p.Q212Q|GPR64_ENST00000356606.4_Silent_p.Q222Q|GPR64_ENST00000354791.3_Silent_p.Q220Q NM_001184833.1 NP_001171762.1 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 236 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) TTACATACCACTGAAGCTTTT 0.398 8 15 --- --- --- --- JADE3 9767 broad.mit.edu 37 X 46887491 46887491 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chrX:46887491G>A ENST00000218343.4 + 6 971 c.673G>A c.(673-675)Gtc>Atc p.V225I PHF16_ENST00000397189.1_Missense_Mutation_p.V225I NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 225 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 TAAGTGTAACGTCTGTGTGCA 0.488 21 4 --- --- --- --- MAGED1 9500 broad.mit.edu 37 X 51639838 51639838 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chrX:51639838C>T ENST00000375695.2 + 5 1408 c.1255C>T c.(1255-1257)Ccc>Tcc p.P419S MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Missense_Mutation_p.P363S|MAGED1_ENST00000326587.7_Missense_Mutation_p.P363S|MAGED1_ENST00000375772.3_Missense_Mutation_p.P363S NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 363 22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich. apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) CATTGTCTGGCCCGGCCCTGT 0.617 Multiple Myeloma(10;0.10) 9 11 --- --- --- --- STARD8 9754 broad.mit.edu 37 X 67937675 67937675 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chrX:67937675C>T ENST00000252336.6 + 5 1051 c.679C>T c.(679-681)Cca>Tca p.P227S STARD8_ENST00000374599.3_Missense_Mutation_p.P307S|STARD8_ENST00000374597.3_Missense_Mutation_p.P227S NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 227 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 GGACCACAAACCAGGCACATT 0.647 3 11 --- --- --- --- TAF1 6872 broad.mit.edu 37 X 70613199 70613199 + Missense_Mutation SNP T T C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chrX:70613199T>C ENST00000449580.1 + 21 3148 c.3097T>C c.(3097-3099)Tca>Cca p.S1033P TAF1_ENST00000423759.1_Missense_Mutation_p.S1054P|TAF1_ENST00000276072.3_Missense_Mutation_p.S1054P|TAF1_ENST00000373790.4_Missense_Mutation_p.S1033P P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 1033 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) GCGCACAATGTCAACAGAACA 0.453 28 6 --- --- --- --- GPR112 139378 broad.mit.edu 37 X 135429592 135429592 + Missense_Mutation SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chrX:135429592G>A ENST00000394143.1 + 6 4018 c.3727G>A c.(3727-3729)Gtg>Atg p.V1243M GPR112_ENST00000412101.1_Missense_Mutation_p.V1038M|GPR112_ENST00000370652.1_Missense_Mutation_p.V1243M|GPR112_ENST00000287534.4_Missense_Mutation_p.V1180M|GPR112_ENST00000394141.1_Missense_Mutation_p.V1038M NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1243 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ACACACACCAGTGTCCATCCA 0.458 7 72 --- --- --- --- SLITRK4 139065 broad.mit.edu 37 X 142716669 142716669 + Silent SNP G G A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chrX:142716669G>A ENST00000381779.4 - 2 2481 c.2256C>T c.(2254-2256)agC>agT p.S752S SLITRK4_ENST00000356928.1_Silent_p.S752S|SLITRK4_ENST00000338017.4_Silent_p.S752S NM_001184749.2|NM_001184750.1|NM_173078.4 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 752 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TGGAATCCCTGCTAGGGAATA 0.383 17 63 --- --- --- --- LMNA 4000 broad.mit.edu 37 1 156104218 156104218 + Frame_Shift_Del DEL A A - TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:156104218delA ENST00000368300.4 + 3 750 c.538delA c.(538-540)aagfs p.K181fs LMNA_ENST00000368301.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000361308.4_Frame_Shift_Del_p.K181fs|LMNA_ENST00000368299.3_Frame_Shift_Del_p.K181fs|LMNA_ENST00000473598.2_Frame_Shift_Del_p.K82fs|LMNA_ENST00000347559.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000448611.2_Frame_Shift_Del_p.K69fs|LMNA_ENST00000392353.3_Frame_Shift_Del_p.K100fs|LMNA_ENST00000368297.1_Frame_Shift_Del_p.K100fs NM_170707.3 NP_733821.1 P02545 LMNA_HUMAN lamin A/C 181 Coil 1B.|Rod. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) AGGTGAGGCCAAGAAGCAACT 0.542 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 15 33 --- --- --- --- PGBD2 267002 broad.mit.edu 37 1 249211828 249211828 + Frame_Shift_Del DEL T T - TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr1:249211828delT ENST00000355360.4 + 3 562 c.292delT c.(292-294)tttfs p.F99fs PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs|PGBD2_ENST00000329291.5_Frame_Shift_Del_p.F350fs NM_001017434.1 NP_001017434.1 Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 350 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) ATATCACATATTTTTTGACAA 0.438 7 144 --- --- --- --- MSH2 4436 broad.mit.edu 37 2 47693894 47693895 + Frame_Shift_Ins INS - - A TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr2:47693894_47693895insA ENST00000406134.1 + 10 1670_1671 c.1608_1609insA c.(1609-1611)aaafs p.K537fs MSH2_ENST00000233146.2_Frame_Shift_Ins_p.K537fs|MSH2_ENST00000543555.1_Frame_Shift_Ins_p.K471fs P43246 MSH2_HUMAN mutS homolog 2 537 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.0?(2)|p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTCGTAACAATAAAAACTTTAG 0.342 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 22 40 --- --- --- --- ATP2B2 491 broad.mit.edu 37 3 10429962 10429962 + Splice_Site DEL T T - TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr3:10429962delT ENST00000397077.1 - 8 1481 c.906delA c.(904-906)aaa>aa p.K302fs ATP2B2_ENST00000343816.4_Splice_Site_p.K302fs|ATP2B2_ENST00000360273.2_Splice_Site_p.K302fs|ATP2B2_ENST00000352432.4_Splice_Site_p.K302fs|ATP2B2_ENST00000383800.4_Splice_Site_p.K302fs Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 302 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding p.A303fs*56(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 TAGGCTTACCTTTTTTGTCTT 0.453 48 94 --- --- --- --- TOP2B 7155 broad.mit.edu 37 3 25674067 25674067 + Frame_Shift_Del DEL T T - TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr3:25674067delT ENST00000435706.2 - 10 1322 c.1121delA c.(1120-1122)aacfs p.N374fs TOP2B_ENST00000264331.4_Frame_Shift_Del_p.N379fs Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 379 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 CCATATATGGTTTTTTACCTG 0.299 14 21 --- --- --- --- LPP 4026 broad.mit.edu 37 3 188327517 188327519 + In_Frame_Del DEL CTC CTC - TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr3:188327517_188327519delCTC ENST00000312675.4 + 6 1244_1246 c.998_1000delCTC c.(997-1002)actcct>act p.P335del LPP_ENST00000543006.1_In_Frame_Del_p.P335del|LPP_ENST00000448637.1_In_Frame_Del_p.P335del|LPP_ENST00000471917.1_3'UTR NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 335 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) CCAGGGTACACTCCTCCTGGAGC 0.552 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 17 66 --- --- --- --- GP5 2814 broad.mit.edu 37 3 194117340 194117341 + Frame_Shift_Del DEL CT CT - TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr3:194117340_194117341delCT ENST00000401815.1 - 1 1742_1743 c.1671_1672delAG c.(1669-1674)agagccfs p.RA557fs GP5_ENST00000323007.3_Frame_Shift_Del_p.RA557fs P40197 GPV_HUMAN glycoprotein V (platelet) 557 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) TACCCAAGGGCTCTCTCTCTGA 0.446 7 198 --- --- --- --- KIF2A 3796 broad.mit.edu 37 5 61677057 61677057 + Frame_Shift_Del DEL T T - TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr5:61677057delT ENST00000381103.2 + 20 2437 c.1952delT c.(1951-1953)atafs p.I651fs KIF2A_ENST00000407818.3_Frame_Shift_Del_p.I709fs|KIF2A_ENST00000401507.3_Frame_Shift_Del_p.I671fs|KIF2A_ENST00000506857.1_Frame_Shift_Del_p.I625fs|KIF2A_ENST00000509663.2_Intron NM_001243952.1 NP_001230881.1 O00139 KIF2A_HUMAN kinesin heavy chain member 2A 671 blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 15 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) GAGCAAAAAATAGACATTTTA 0.348 49 101 --- --- --- --- GPR98 84059 broad.mit.edu 37 5 89979676 89979677 + Frame_Shift_Ins INS - - T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr5:89979676_89979677insT ENST00000405460.2 + 28 6034_6035 c.5938_5939insT c.(5938-5940)attfs p.I1980fs NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1980 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.S1982fs*2(1) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGGGATATTCATTTTTTCTGAG 0.401 15 23 --- --- --- --- ADRA1B 147 broad.mit.edu 37 5 159344293 159344293 + Frame_Shift_Del DEL G G - TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr5:159344293delG ENST00000306675.3 + 1 504 c.381delG c.(379-381)ctgfs p.L127fs NM_000679.3 NP_000670.1 P35368 ADA1B_HUMAN adrenoceptor alpha 1B 127 cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) TGGATGTCCTGTGCTGCACAG 0.622 32 38 --- --- --- --- NT5C3A 51251 broad.mit.edu 37 7 33061665 33061666 + Splice_Site INS - - T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr7:33061665_33061666insT ENST00000396152.2 - 5 553_554 c.251_252insA c.(250-252)aag>aaAg p.K84fs AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000610140.1_Splice_Site_p.K118fs|NT5C3A_ENST00000242210.7_Splice_Site_p.K123fs|NT5C3A_ENST00000405342.1_Splice_Site_p.K84fs|NT5C3A_ENST00000409467.1_Splice_Site_p.K72fs|NT5C3A_ENST00000381626.2_Splice_Site_p.K72fs|NT5C3A_ENST00000409787.1_Splice_Site_p.K84fs NM_016489.12 NP_057573.2 5'-nucleotidase, cytosolic IIIA p.K123K(1)|p.K84K(1) TAGTGTTTACCTTTTTTCTACA 0.322 4 7 --- --- --- --- KCNT1 57582 broad.mit.edu 37 9 138657029 138657029 + Frame_Shift_Del DEL C C - TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr9:138657029delC ENST00000298480.5 + 12 1262 c.1188delC c.(1186-1188)cacfs p.H396fs KCNT1_ENST00000490355.2_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000488444.2_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000263604.3_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000487664.1_Frame_Shift_Del_p.H351fs|KCNT1_ENST00000491806.2_Frame_Shift_Del_p.H363fs|KCNT1_ENST00000371757.2_Frame_Shift_Del_p.H396fs|KCNT1_ENST00000486577.2_Frame_Shift_Del_p.H357fs B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 396 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) TCTACGCCCACCCCCGGCTCC 0.642 12 40 --- --- --- --- OR5F1 338674 broad.mit.edu 37 11 55762087 55762088 + Frame_Shift_Ins INS - - T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr11:55762087_55762088insT ENST00000278409.1 - 1 13_14 c.14_15insA c.(13-15)aatfs p.N5fs NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) GTGAGGTATAATTTTTTCTGGT 0.307 16 44 --- --- --- --- OR8J1 219477 broad.mit.edu 37 11 56128471 56128471 + Frame_Shift_Del DEL T T - TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr11:56128471delT ENST00000303039.3 + 1 781 c.749delT c.(748-750)attfs p.I250fs NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) GCAGTCACAATTTTTTATGGG 0.348 8 113 --- --- --- --- PPFIBP1 8496 broad.mit.edu 37 12 27829391 27829391 + Frame_Shift_Del DEL G G - TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr12:27829391delG ENST00000318304.8 + 18 1775 c.1492delG c.(1492-1494)gggfs p.G498fs PPFIBP1_ENST00000542629.1_Frame_Shift_Del_p.G467fs|PPFIBP1_ENST00000228425.6_Frame_Shift_Del_p.G481fs|PPFIBP1_ENST00000537927.1_Frame_Shift_Del_p.G345fs NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 498 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) CAGGCCATTTGGGACCCTTCC 0.552 22 55 --- --- --- --- ZFC3H1 196441 broad.mit.edu 37 12 72013161 72013161 + Frame_Shift_Del DEL A A - TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr12:72013161delA ENST00000378743.3 - 27 5436 c.5078delT c.(5077-5079)ttgfs p.L1693fs NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1693 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 AAATTTCCGCAAAAATGGAAG 0.348 15 21 --- --- --- --- PDE8A 5151 broad.mit.edu 37 15 85659319 85659325 + Frame_Shift_Del DEL ATTTTTG ATTTTTG - TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr15:85659319_85659325delATTTTTG ENST00000310298.4 + 17 1756_1762 c.1504_1510delATTTTTG c.(1504-1512)atttttgaafs p.IFE502fs PDE8A_ENST00000557957.1_Frame_Shift_Del_p.IFE430fs|PDE8A_ENST00000339708.5_Frame_Shift_Del_p.IFE456fs|PDE8A_ENST00000394553.1_Frame_Shift_Del_p.IFE502fs O60658 PDE8A_HUMAN phosphodiesterase 8A 502 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) GGACTTTGATATTTTTGAACTGGAGGC 0.493 22 55 --- --- --- --- PFN1 5216 broad.mit.edu 37 17 4850039 4850041 + In_Frame_Del DEL TTC TTC - TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr17:4850039_4850041delTTC ENST00000225655.5 - 2 826_828 c.207_209delGAA c.(205-210)cagaaa>caa p.K70del PFN1_ENST00000574872.1_In_Frame_Del_p.K34del NM_005022.3 NP_005013.1 P07737 PROF1_HUMAN profilin 1 70 actin cytoskeleton organization|platelet activation|platelet degranulation actin cytoskeleton|cytoplasm actin binding|proline-rich region binding NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 CACCGAACATTTCTGGCCCCCAA 0.562 22 67 --- --- --- --- NCOR1 9611 broad.mit.edu 37 17 15965099 15965099 + Frame_Shift_Del DEL G G - TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr17:15965099delG ENST00000268712.3 - 37 5754 c.5497delC c.(5497-5499)cagfs p.Q1833fs NCOR1_ENST00000395857.3_Frame_Shift_Del_p.Q417fs|NCOR1_ENST00000395851.1_Frame_Shift_Del_p.Q1849fs NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1833 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) ACATCCATCTGGGGTGCAGAA 0.532 17 56 --- --- --- --- CACNB1 782 broad.mit.edu 37 17 37331578 37331579 + Frame_Shift_Del DEL AT AT - TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr17:37331578_37331579delAT ENST00000394303.3 - 14 1871_1872 c.1664_1665delAT c.(1663-1665)tatfs p.Y555fs RP5-906A24.2_ENST00000579256.1_RNA NM_000723.4 NP_000714.3 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 subunit 555 axon guidance voltage-gated calcium channel complex breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) GCTCTTCCTCATAGTCTTCTTC 0.649 OREG0024371 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 204 --- --- --- --- ENGASE 64772 broad.mit.edu 37 17 77079175 77079177 + In_Frame_Del DEL AGA AGA - TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr17:77079175_77079177delAGA ENST00000579016.1 + 8 1112_1114 c.1112_1114delAGA c.(1111-1116)gagaag>gag p.K373del ENGASE_ENST00000584568.1_3'UTR NM_001042573.2 NP_001036038.1 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 373 BRCT. cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 GAGTGTCTGGAGAAGAAGGATTT 0.562 OREG0024792 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 67 --- --- --- --- MARK4 57787 broad.mit.edu 37 19 45805663 45805664 + Frame_Shift_Ins INS - - C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr19:45805663_45805664insC ENST00000300843.4 + 18 2331_2332 c.2034_2035insC c.(2035-2037)cccfs p.P679fs MARK4_ENST00000262891.4_Frame_Shift_Ins_p.A652fs NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 0 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) AACGGAAACCGCCCCCCGGCTG 0.639 42 132 --- --- --- --- ZNF616 90317 broad.mit.edu 37 19 52618188 52618188 + Frame_Shift_Del DEL T T - TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr19:52618188delT ENST00000600228.1 - 4 2490 c.2229delA c.(2227-2229)aaafs p.K743fs ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 743 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P744fs*3(1) breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) ATTTATAAGGTTTTTTGCCAG 0.393 11 85 --- --- --- --- PAXBP1 94104 broad.mit.edu 37 21 34132172 34132173 + Frame_Shift_Ins INS - - T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr21:34132172_34132173insT ENST00000331923.4 - 6 1297_1298 c.1108_1109insA c.(1108-1110)acafs p.T370fs PAXBP1_ENST00000290178.4_Frame_Shift_Ins_p.T370fs|PAXBP1_ENST00000472588.1_5'UTR NM_016631.3 NP_057715.2 PAX3 and PAX7 binding protein 1 TGTATTATCTGTTTTTTGAGAT 0.406 26 85 --- --- --- --- CLTCL1 8218 broad.mit.edu 37 22 19226837 19226837 + Frame_Shift_Del DEL A A - TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr22:19226837delA ENST00000263200.10 - 5 828 c.756delT c.(754-756)tttfs p.F252fs CLTCL1_ENST00000427926.1_Frame_Shift_Del_p.F252fs|CLTCL1_ENST00000353891.5_Frame_Shift_Del_p.F252fs NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 252 Globular terminal domain. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) CCTCTGGAGGAAAAAACACAT 0.428 T ? ALCL 42 97 --- --- --- --- GNAZ 2781 broad.mit.edu 37 22 23438097 23438099 + In_Frame_Del DEL TCA TCA - TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr22:23438097_23438099delTCA ENST00000248996.4 + 2 881_883 c.215_217delTCA c.(214-219)ctcatc>ctc p.I74del RTDR1_ENST00000216036.4_Intron NM_002073.2 NP_002064.1 P19086 GNAZ_HUMAN guanine nucleotide binding protein (G protein), alpha z polypeptide 74 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) TACAAGCCCCTCATCATCTACAA 0.606 17 160 --- --- --- --- GTSE1 51512 broad.mit.edu 37 22 46725429 46725429 + Frame_Shift_Del DEL A A - TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e0c2ed-204a-4bd3-b9fa-441029d8780d c0c289a5-6e6d-434b-834d-6d462e5108c6 g.chr22:46725429delA ENST00000454366.1 + 11 2313 c.2101delA c.(2101-2103)aaafs p.K701fs NM_016426.6 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 682 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) AGACATGAATAAAAATGTGGC 0.517 23 59 --- --- --- ---