Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut SNX13 23161 broad.mit.edu 37 7 17879515 17879515 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr7:17879515C>T ENST00000409389.1 - 13 1446 c.1274G>A c.(1273-1275)aGa>aAa p.R425K SNX13_ENST00000428135.3_Missense_Mutation_p.R425K Q9Y5W8 SNX13_HUMAN sorting nexin 13 425 RGS. cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(10;0.0261)|all_lung(11;0.0521) TTTTCCATCTCTCTGACGACT 0.413000 6 34 0 0 1 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17958953 17958953 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:17958953C>G ENST00000361221.3 + 16 1881 c.1722C>G c.(1720-1722)atC>atG p.I574M ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.I535M|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.I574M|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.I352M|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.I535M|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.I332M|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.I282M NM_018125.3 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 574 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) GTGCCAACATCAACTTCAAGT 0.597000 19 132 0 0 1 0 0 WDTC1 23038 broad.mit.edu 37 1 27631682 27631682 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:27631682G>C ENST00000319394.3 + 15 2369 c.1834G>C c.(1834-1836)Gag>Cag p.E612Q WDTC1_ENST00000361771.3_Missense_Mutation_p.E611Q NM_001276252.1|NM_015023.3 NP_001263181.1|NP_055838.2 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 612 protein binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) CCCCCGACCAGAGGTGAGGGT 0.617000 7 24 0 0 1 0 0 PDZD7 79955 broad.mit.edu 37 10 102789913 102789913 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:102789913G>A ENST00000370215.3 - 2 289 c.64C>T c.(64-66)Ctg>Ttg p.L22L PDZD7_ENST00000470414.1_Silent_p.L22L NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 22 cilium|nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) AGGGAGCTCAGAGAGCCGGAG 0.662000 4 24 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67816249 67816249 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr18:67816249G>C ENST00000255674.6 - 17 2483 c.2197C>G c.(2197-2199)Ctg>Gtg p.L733V RTTN_ENST00000437017.1_Missense_Mutation_p.L733V|RTTN_ENST00000454359.1_Missense_Mutation_p.L733V NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 733 binding p.L733V(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) CAGTTACCCAGAGGATCTTCT 0.368000 19 91 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 3 52 0 0 1 0 0 SLC4A11 83959 broad.mit.edu 37 20 3211439 3211439 + Silent SNP G G T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr20:3211439G>T ENST00000380059.3 - 11 1451 c.1350C>A c.(1348-1350)ctC>ctA p.L450L SLC4A11_ENST00000380056.3_Silent_p.L423L|SLC4A11_ENST00000539553.2_Silent_p.L407L NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 423 Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 GCCCAGAGAAGAGCGCGTAGA 0.687000 6 32 0.335167 0.337632 1 1 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100453074 100453074 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:100453074C>T ENST00000279907.7 - 14 2193 c.1981G>A c.(1981-1983)Gct>Act p.A661T UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.A311T NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 661 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 TGTTCATGAGCATGTCTCTGG 0.318000 3 56 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12389897 12389897 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:12389897C>G ENST00000358136.3 + 37 8339 c.8209C>G c.(8209-8211)Ctt>Gtt p.L2737V VPS13D_ENST00000356315.4_Missense_Mutation_p.L2737V NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2737 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TCTGAATTTTCTTCAGCGTGT 0.428000 11 39 0 0 1 0 0 EPS8L2 64787 broad.mit.edu 37 11 720214 720214 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:720214C>T ENST00000533256.1 + 6 693 c.318C>T c.(316-318)atC>atT p.I106I EPS8L2_ENST00000526198.1_Silent_p.I106I|EPS8L2_ENST00000318562.8_Silent_p.I106I|EPS8L2_ENST00000530636.1_Silent_p.I106I|AP006621.9_ENST00000527021.2_RNA Q9H6S3 ES8L2_HUMAN EPS8-like 2 106 PID. cytoplasm NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGCTGGACATCGAGTCACAGG 0.672000 6 31 0 0 1 0 0 ABCG5 64240 broad.mit.edu 37 2 44040419 44040419 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:44040419G>A ENST00000543989.1 - 9 2312 c.607C>T c.(607-609)Cca>Tca p.P203S ABCG5_ENST00000405322.1_Missense_Mutation_p.P427S|ABCG5_ENST00000260645.1_Missense_Mutation_p.P598S Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 598 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GCACACATTGGATTAGTTGTC 0.363000 9 29 0 0 1 0 0 ZNF233 353355 broad.mit.edu 37 19 44778410 44778410 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr19:44778410G>C ENST00000391958.2 + 5 1724 c.1597G>C c.(1597-1599)Gag>Cag p.E533Q ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.E515Q|ZNF233_ENST00000592581.1_3'UTR NM_181756.2 NP_861421.2 A6NK53 ZN233_HUMAN zinc finger protein 233 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) TCACAAAGGAGAGAAGCCATA 0.468000 8 59 0 0 1 0 0 HHLA2 11148 broad.mit.edu 37 3 108076964 108076964 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:108076964C>G ENST00000357759.5 + 6 1373 c.959C>G c.(958-960)tCt>tGt p.S320C HHLA2_ENST00000489514.2_Missense_Mutation_p.S320C|HHLA2_ENST00000467761.1_Missense_Mutation_p.S320C|HHLA2_ENST00000491820.1_Missense_Mutation_p.S320C|HHLA2_ENST00000467562.1_Missense_Mutation_p.S256C NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 320 Ig-like V-type 2. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 TGCAATATTTCTTCGGATGAA 0.378000 3 63 0 0 1 0 0 MAT1A 4143 broad.mit.edu 37 10 82043687 82043687 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:82043687C>T ENST00000372213.3 - 3 537 c.277G>A c.(277-279)Gat>Aat p.D93N NM_000429.2 NP_000420.1 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 93 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) GCTGAGTCATCGTAGCCGATG 0.587000 15 75 0 0 1 0 0 ATP1A1 476 broad.mit.edu 37 1 116931580 116931580 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:116931580C>T ENST00000537345.1 + 7 1056 c.693C>T c.(691-693)ttC>ttT p.F231F ATP1A1_ENST00000491156.1_3'UTR|ATP1A1_ENST00000295598.5_Silent_p.F231F|ATP1A1_ENST00000369496.4_Silent_p.F200F NM_001160233.1 NP_001153705.1 P05023 AT1A1_HUMAN ATPase, Na+/K+ transporting, alpha 1 polypeptide 231 ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) CTCCAGATTTCACAAATGAAA 0.443000 5 60 0 0 1 0 0 PHACTR4 65979 broad.mit.edu 37 1 28818294 28818294 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:28818294G>A ENST00000373839.3 + 12 2272 c.2011G>A c.(2011-2013)Gac>Aac p.D671N PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.D681N NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 671 actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) GACCCCTGCTGACAAGGTACC 0.423000 3 63 0 0 1 0 0 ADPRHL1 113622 broad.mit.edu 37 13 114077230 114077230 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr13:114077230G>A ENST00000356501.4 - 7 901 c.726C>T c.(724-726)ctC>ctT p.L242L ADPRHL1_ENST00000375418.3_Silent_p.L324L NM_199162.1 NP_954631.1 Q8NDY3 ARHL1_HUMAN ADP-ribosylhydrolase like 1 324 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 11 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116) CTTTGGGAACGAGGTCCAGGC 0.617000 27 83 0 0 1 0 0 COL23A1 91522 broad.mit.edu 37 5 177690246 177690246 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:177690246G>A ENST00000390654.3 - 9 959 c.602C>T c.(601-603)aCt>aTt p.T201I COL23A1_ENST00000407622.1_Missense_Mutation_p.T165I NM_173465.3 NP_775736.2 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 201 Collagen-like 1.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) ATCTTTCCCAGTGTCGCCAGG 0.647000 7 27 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64950860 64950860 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:64950860C>T ENST00000399262.2 - 17 6303 c.6085G>A c.(6085-6087)Gaa>Aaa p.E2029K JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.E1847K|JMJD1C_ENST00000402544.1_Missense_Mutation_p.E1792K NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 2029 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) AGGGTAAGTTCTTTGTTTTCT 0.398000 6 30 0 0 1 0 0 LRRC19 64922 broad.mit.edu 37 9 26995683 26995683 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr9:26995683C>T ENST00000380055.5 - 5 1059 c.949G>A c.(949-951)Gaa>Aaa p.E317K IFT74_ENST00000443698.1_Intron|IFT74_ENST00000380062.5_Intron|IFT74_ENST00000429045.2_Intron|IFT74_ENST00000433700.1_Intron|LRRC19_ENST00000482770.1_5'UTR NM_022901.2 NP_075052.1 Q9H756 LRC19_HUMAN leucine rich repeat containing 19 317 integral to membrane breast(1)|endometrium(2)|kidney(1)|lung(2) 6 all_neural(11;1.81e-09) Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001) AAACCATCTTCATAGGTTTCT 0.343000 9 67 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154300640 154300640 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:154300640G>A ENST00000368489.3 + 2 122 c.122G>A c.(121-123)cGc>cAc p.R41H ATP8B2_ENST00000368487.3_Missense_Mutation_p.R8H NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 24 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GCAAAAAAGCGCCCCCCAGGT 0.542000 6 58 0 0 1 0 0 LARP4B 23185 broad.mit.edu 37 10 888915 888915 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:888915C>A ENST00000316157.3 - 6 643 c.603G>T c.(601-603)aaG>aaT p.K201N NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 201 HTH La-type RNA-binding. nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 TGCTGAGCTTCTTGATGTGGT 0.388000 5 47 3.59834e-05 3.80673e-05 1 1 0 DBR1 51163 broad.mit.edu 37 3 137888979 137888979 + Silent SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:137888979C>G ENST00000260803.4 - 4 612 c.459G>C c.(457-459)gtG>gtC p.V153V DBR1_ENST00000505015.2_5'UTR NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 153 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 CAATATTTCTCACATGATATA 0.299000 12 77 0 0 1 0 0 DYNC2LI1 51626 broad.mit.edu 37 2 44036905 44036905 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:44036905G>A ENST00000260605.8 + 13 1155 c.1055G>A c.(1054-1056)tGa>tAa p.*352* DYNC2LI1_ENST00000443170.3_Silent_p.*226*|DYNC2LI1_ENST00000605786.1_Silent_p.*353* NM_001193464.1|NM_016008.3 NP_001180393.1|NP_057092.2 Q8TCX1 DC2L1_HUMAN dynein, cytoplasmic 2, light intermediate chain 1 0 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1) 26 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTTGATTCTTGAACCTATTTC 0.274000 4 13 0 0 1 0 0 SLC4A11 83959 broad.mit.edu 37 20 3211823 3211823 + Missense_Mutation SNP G G T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr20:3211823G>T ENST00000380059.3 - 9 1244 c.1143C>A c.(1141-1143)ttC>ttA p.F381L SLC4A11_ENST00000380056.3_Missense_Mutation_p.F354L|SLC4A11_ENST00000539553.2_Missense_Mutation_p.F338L NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 354 Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 GGTACAAGGGGAACCTGCGTG 0.602000 13 128 1.5739e-10 1.76019e-10 1 1 0 RAB11FIP5 26056 broad.mit.edu 37 2 73315528 73315528 + Silent SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:73315528C>G ENST00000258098.6 - 3 1458 c.1218G>C c.(1216-1218)ctG>ctC p.L406L RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 406 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding p.L406L(1) biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 CCTGAGCACTCAGCTCCTCCT 0.657000 14 53 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108384321 108384321 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:108384321C>T ENST00000265843.4 - 6 2023 c.1913G>A c.(1912-1914)aGa>aAa p.R638K EXPH5_ENST00000428840.1_Missense_Mutation_p.R562K|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000525344.1_Missense_Mutation_p.R631K|EXPH5_ENST00000443411.1_Missense_Mutation_p.R450K NM_015065.2 NP_055880 Q149M6 Q149M6_HUMAN exophilin 5 638 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) AGGATTCCTTCTGTCATCAGA 0.408000 12 75 0 0 1 0 0 TP73 7161 broad.mit.edu 37 1 3640003 3640003 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:3640003G>A ENST00000378295.4 + 6 857 c.702G>A c.(700-702)caG>caA p.Q234Q TP73_ENST00000354437.4_Silent_p.Q234Q|TP73_ENST00000357733.3_Silent_p.Q234Q|TP73_ENST00000604479.1_Silent_p.Q234Q|TP73_ENST00000604074.1_Silent_p.Q234Q|TP73_ENST00000378290.4_Silent_p.Q163Q|TP73_ENST00000346387.4_Silent_p.Q234Q|TP73_ENST00000378285.1_Silent_p.Q185Q|TP73_ENST00000603362.1_Silent_p.Q234Q|TP73_ENST00000378280.1_Silent_p.Q185Q|TP73_ENST00000378288.4_Silent_p.Q185Q NM_001204185.1|NM_005427.3 NP_001191114.1|NP_005418.1 O15350 P73_HUMAN tumor protein p73 234 DNA-binding (Potential). cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) CCGGCAGGCAGAGCGTCGTGG 0.657000 5 39 0 0 1 0 0 FAM83H 286077 broad.mit.edu 37 8 144811408 144811408 + Missense_Mutation SNP T T C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr8:144811408T>C ENST00000388913.3 - 3 658 c.533A>G c.(532-534)tAc>tGc p.Y178C NM_198488.3 NP_940890 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 178 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CAGCAGGATGTAGACTGGGAC 0.632000 24 99 0 0 1 0 0 EXOC8 149371 broad.mit.edu 37 1 231471422 231471422 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:231471422C>G ENST00000366645.1 - 1 2176 c.2058G>C c.(2056-2058)gaG>gaC p.E686D EXOC8_ENST00000360394.2_Missense_Mutation_p.E690D Q8IYI6 EXOC8_HUMAN exocyst complex component 8 690 exocytosis|protein transport growth cone|nucleus protein binding cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1) 14 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) CAAACCTTTTCTCCACCACAG 0.423000 30 130 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122825899 122825899 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:122825899C>T ENST00000358808.2 - 10 1973 c.1819G>A c.(1819-1821)Gat>Aat p.D607N CLIP1_ENST00000361654.4_Missense_Mutation_p.D572N|CLIP1_ENST00000302528.7_Missense_Mutation_p.D607N|CLIP1_ENST00000540338.1_Missense_Mutation_p.D618N|CLIP1_ENST00000545889.1_Missense_Mutation_p.D308N|CLIP1_ENST00000537178.1_Missense_Mutation_p.D572N NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 618 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) GCTATCACATCTGAGTTCTCT 0.478000 18 67 0 0 1 0 0 POLG2 11232 broad.mit.edu 37 17 62486958 62486958 + Missense_Mutation SNP A A C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:62486958A>C ENST00000539111.2 - 4 991 c.924T>G c.(922-924)gaT>gaG p.D308E NM_007215.3 NP_009146.2 Q9UHN1 DPOG2_HUMAN polymerase (DNA directed), gamma 2, accessory subunit 308 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) AAAGTTCGTGATCTCCTAGGT 0.393000 9 101 0 0 1 0 0 FANCE 2178 broad.mit.edu 37 6 35426107 35426107 + Nonsense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:35426107C>T ENST00000229769.2 + 5 1188 c.1003C>T c.(1003-1005)Cag>Tag p.Q335* NM_021922.2 NP_068741.1 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 335 Interaction with FANCC. DNA repair nucleoplasm protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2) 13 GCAGCTCCCTCAGCTCTCAGA 0.602000 """N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 43 146 0 0 1 0 0 FKBP15 23307 broad.mit.edu 37 9 115950730 115950730 + Silent SNP A A G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr9:115950730A>G ENST00000238256.3 - 13 1332 c.1215T>C c.(1213-1215)acT>acC p.T405T NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 405 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 GGACGGACGGAGTCACCACAG 0.567000 9 53 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45303768 45303768 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:45303768G>A ENST00000303230.4 - 6 1608 c.1551C>T c.(1549-1551)caC>caT p.H517H NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 517 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.H517H(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CAGCAACACCGTGTTGAATGA 0.388000 7 69 0 0 1 0 0 CLEC4A 50856 broad.mit.edu 37 12 8288244 8288244 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:8288244C>G ENST00000229332.5 + 4 609 c.362C>G c.(361-363)tCt>tGt p.S121C CLEC4A_ENST00000360500.3_Missense_Mutation_p.S82C|CLEC4A_ENST00000345999.3_Missense_Mutation_p.S49C|CLEC4A_ENST00000352620.3_Missense_Mutation_p.S88C NM_016184.3|NM_194447.2|NM_194450.2 NP_057268.1|NP_919429.2|NP_919432.1 Q9UMR7 CLC4A_HUMAN C-type lectin domain family 4, member A 121 C-type lectin. cell adhesion|cell surface receptor linked signaling pathway|innate immune response integral to plasma membrane sugar binding|transmembrane receptor activity cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1) 11 Kidney(36;0.0915) TACTTTATTTCTACTGAATCA 0.438000 3 69 0 0 1 0 0 RXRA 6256 broad.mit.edu 37 9 137293529 137293529 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr9:137293529C>G ENST00000481739.1 + 2 132 c.80C>G c.(79-81)tCc>tGc p.S27C RXRA_ENST00000356384.4_3'UTR NM_002957.4 NP_002948.1 P19793 RXRA_HUMAN retinoid X receptor, alpha 27 Modulating (By similarity). cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) GGGCGAGGCTCCATGGCTGCC 0.662000 25 54 0 0 1 0 0 PHOSPHO2 493911 broad.mit.edu 37 2 170557854 170557854 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:170557854C>T ENST00000359744.3 + 4 761 c.373C>T c.(373-375)Cca>Tca p.P125S KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1 NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1 Q8TCD6 PHOP2_HUMAN phosphatase, orphan 2 125 metal ion binding|pyridoxal phosphatase activity breast(1)|large_intestine(1)|lung(6)|skin(2) 10 GTTTACAAATCCAGCAGCTTT 0.323000 6 34 0 0 1 0 0 CEP55 55165 broad.mit.edu 37 10 95275294 95275294 + Missense_Mutation SNP A A G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:95275294A>G ENST00000371485.3 + 5 965 c.661A>G c.(661-663)Aaa>Gaa p.K221E NM_001127182.1|NM_018131.4 NP_001120654|NP_060601 Q53EZ4 CEP55_HUMAN centrosomal protein 55kDa 221 Interaction with TSG101. cell division|mitosis centriole|cleavage furrow|midbody kidney(1)|large_intestine(5)|lung(6)|stomach(1) 13 Colorectal(252;0.207) ACAGCAGACAAAAAAGCCTGA 0.378000 16 61 0 0 1 0 0 CNTLN 54875 broad.mit.edu 37 9 17502622 17502622 + Missense_Mutation SNP A A T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr9:17502622A>T ENST00000380647.3 + 26 4277 c.4193A>T c.(4192-4194)tAt>tTt p.Y1398F CNTLN_ENST00000425824.1_Missense_Mutation_p.Y1398F Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 0 Poly-Ser. centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) GTTGAAGGATATTTCACAATT 0.279000 4 14 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107329646 107329646 + Splice_Site SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr7:107329646G>A ENST00000265715.3 + 9 1373 c.e9+1 NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 TGGGAACCAGGTATGGGTGCC 0.433000 Pendred syndrome 18 105 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44943347 44943347 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:44943347G>C ENST00000296125.4 + 8 963 c.895G>C c.(895-897)Gaa>Caa p.E299Q NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 299 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) TCACGACACAGAAAGGAACCT 0.542000 11 57 0 0 1 0 0 FRS3 10817 broad.mit.edu 37 6 41738604 41738604 + Missense_Mutation SNP G G T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:41738604G>T ENST00000373018.3 - 7 1483 c.1232C>A c.(1231-1233)cCc>cAc p.P411H FRS3_ENST00000259748.2_Missense_Mutation_p.P411H NM_006653.3 NP_006644.1 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 411 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTGCCTTGGGGGCTCGGGCCC 0.687000 9 30 7.48243e-07 8.1035e-07 1 1 0 OSM 5008 broad.mit.edu 37 22 30659990 30659990 + Missense_Mutation SNP T T C rs150499755 TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr22:30659990T>C ENST00000215781.2 - 3 681 c.641A>G c.(640-642)gAg>gGg p.E214G OSM_ENST00000403389.1_Missense_Mutation_p.E193G NM_020530.4 NP_065391.1 P13725 ONCM_HUMAN oncostatin M 214 cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth extracellular space|oncostatin-M receptor complex cytokine activity|growth factor activity|oncostatin-M receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3) 11 Epithelial(10;0.206) GTTCGGGCTCTCCCCCCACTT 0.642000 4 66 0 0 1 0 0 SLC25A47 283600 broad.mit.edu 37 14 100795895 100795895 + Silent SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr14:100795895C>G ENST00000361529.3 + 6 918 c.840C>G c.(838-840)ctC>ctG p.L280L SLC25A47_ENST00000557052.1_Silent_p.L134L NM_207117.2 NP_997000.2 Q6Q0C1 S2547_HUMAN solute carrier family 25, member 47 280 transmembrane transport integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 13 GGCTGGTACTCAATTGCTGCC 0.647000 27 83 0 0 1 0 0 IGKV3-11 28914 broad.mit.edu 37 2 89326712 89326712 + RNA SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:89326712C>T ENST00000483158.1 - 0 347 GCAAAATCTTCAGGCTCTAGG 0.502000 25 107 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32617837 32617837 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr21:32617837G>A ENST00000286827.3 - 7 2022 c.1551C>T c.(1549-1551)ctC>ctT p.L517L TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Silent_p.L517L NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 517 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 GGGAATTGCTGAGGCAGAAGA 0.522000 11 32 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122667459 122667459 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:122667459G>A ENST00000195173.4 - 3 525 c.222C>T c.(220-222)ctC>ctT p.L74L SEMA5B_ENST00000357599.3_Silent_p.L74L|SEMA5B_ENST00000465147.1_5'UTR|SEMA5B_ENST00000451055.2_Silent_p.L128L Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 74 cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) CCAGCAGTGTGAGGCTGGGCA 0.647000 10 29 0 0 1 0 0 BPI 671 broad.mit.edu 37 20 36959492 36959492 + Splice_Site SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr20:36959492G>A ENST00000262865.4 + 12 1373 c.1284G>A c.(1282-1284)ccG>ccA p.P428P BPI_ENST00000489102.1_3'UTR NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 428 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) GCCCCTTCCCGGTGAGTCTGA 0.572000 9 95 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33586326 33586326 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr20:33586326G>C ENST00000262873.7 + 32 4105 c.4013G>C c.(4012-4014)cGc>cCc p.R1338P NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1296 membrane|myosin filament actin binding|ATP binding|motor activity p.R1338H(1) NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GAGCTGAGTCGCCTGCTAGAG 0.642000 4 43 0 0 1 0 0 KLF11 8462 broad.mit.edu 37 2 10192502 10192502 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:10192502G>A ENST00000535335.1 + 4 1572 c.1356G>A c.(1354-1356)ctG>ctA p.L452L KLF11_ENST00000540845.1_Silent_p.L452L|KLF11_ENST00000305883.1_Silent_p.L469L NM_001177718.1 NP_001171189.1 O14901 KLF11_HUMAN Kruppel-like factor 11 469 apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) GTGACCACCTGACGAAGCATG 0.602000 8 60 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133257231 133257231 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:133257231C>G ENST00000320574.5 - 3 290 c.247G>C c.(247-249)Gat>Cat p.D83H POLE_ENST00000535270.1_Intron NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 83 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) AAGTAGTAATCCACTGCACTG 0.428000 DNA polymerases (catalytic subunits) 15 64 0 0 1 0 0 FRZB 2487 broad.mit.edu 37 2 183703267 183703267 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:183703267G>C ENST00000295113.4 - 4 1276 c.667C>G c.(667-669)Cta>Gta p.L223V NM_001463.3 NP_001454.2 Q92765 SFRP3_HUMAN frizzled-related protein 223 NTR. brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway cytoplasm|extracellular space|membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231) GAGGACTTTAGAATCTCCTTC 0.433000 21 99 0 0 1 0 0 TSEN54 283989 broad.mit.edu 37 17 73512921 73512921 + Nonsense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:73512921C>T ENST00000333213.6 + 2 187 c.151C>T c.(151-153)Cag>Tag p.Q51* TSEN54_ENST00000580013.1_3'UTR NM_207346.2 NP_997229.2 Q7Z6J9 SEN54_HUMAN TSEN54 tRNA splicing endonuclease subunit 51 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2) 13 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CTCGGCAGCTCAGGCCGAGCG 0.736000 3 15 0 0 1 0 0 GUCA1A 2978 broad.mit.edu 37 6 42146620 42146620 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:42146620C>T ENST00000394237.1 + 5 1408 c.432C>T c.(430-432)gaC>gaT p.D144D GUCA1A_ENST00000541991.1_Silent_p.D144D|GUCA1A_ENST00000053469.4_Silent_p.D144D|GUCA1A_ENST00000372958.1_Silent_p.D144D P43080 GUC1A_HUMAN guanylate cyclase activator 1A (retina) 144 EF-hand 4. signal transduction|visual perception membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 7 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CCAAGATTGACGTCAACGGGG 0.607000 32 143 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 468809 468809 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:468809C>T ENST00000280886.6 - 5 646 c.559G>A c.(559-561)Ggg>Agg p.G187R DIP2C_ENST00000381496.3_Missense_Mutation_p.G80R NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 187 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TGGGCAGCCCCGCTGCCCCCG 0.617000 10 61 0 0 1 0 0 GAD1 2571 broad.mit.edu 37 2 171710417 171710417 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:171710417G>C ENST00000358196.3 + 14 1848 c.1298G>C c.(1297-1299)gGa>gCa p.G433A NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 433 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) ATGTGTGCAGGATACCTCTTC 0.483000 6 120 0 0 1 0 0 HSPB2 3316 broad.mit.edu 37 11 111784264 111784264 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:111784264C>A ENST00000304298.3 + 2 782 c.194C>A c.(193-195)tCc>tAc p.S65Y CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000527950.1_Intron|HSPB2_ENST00000537382.1_Missense_Mutation_p.S65Y|HSPB2-C11orf52_ENST00000534100.1_Intron NM_001541.3 NP_001532.1 Q16082 HSPB2_HUMAN heat shock 27kDa protein 2 65 response to heat|response to unfolded protein cytosol|nucleus enzyme activator activity|protein binding large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051) GCAGGGGCCTCCGAGCTTAGG 0.622000 7 106 0.000157383 0.000165222 1 1 0 P4HA1 5033 broad.mit.edu 37 10 74803686 74803686 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:74803686C>T ENST00000263556.3 - 9 1347 c.1107G>A c.(1105-1107)gaG>gaA p.E369E P4HA1_ENST00000394890.2_Intron|P4HA1_ENST00000412021.2_Intron|P4HA1_ENST00000440381.1_Silent_p.E369E|P4HA1_ENST00000373008.2_Silent_p.E369E|P4HA1_ENST00000307116.2_Intron NM_000917.3 NP_000908.2 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 369 endoplasmic reticulum lumen|mitochondrion 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 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) ATTTTCCAGTCTCAGGGTCAT 0.408000 27 225 0 0 1 0 0 MYO1E 4643 broad.mit.edu 37 15 59500904 59500904 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr15:59500904G>A ENST00000288235.4 - 14 1905 c.1506C>T c.(1504-1506)ttC>ttT p.F502F NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 502 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) GATGAATGATGAAGCCTTGGT 0.453000 8 150 0 0 1 0 0 WAPAL 23063 broad.mit.edu 37 10 88206121 88206121 + Missense_Mutation SNP T T C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:88206121T>C ENST00000298767.5 - 16 3672 c.3200A>G c.(3199-3201)gAt>gGt p.D1067G WAPAL_ENST00000372075.1_Missense_Mutation_p.D279G|WAPAL_ENST00000263070.7_Missense_Mutation_p.D279G NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 1067 WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 TCCACTCTTATCATGCTGAGT 0.438000 9 90 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9482170 9482170 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:9482170G>A ENST00000402466.1 + 9 1072 c.304G>A c.(304-306)Gag>Aag p.E102K SETD5_ENST00000302463.6_Missense_Mutation_p.E102K|SETD5_ENST00000406341.1_Missense_Mutation_p.E200K|SETD5_ENST00000407969.1_Missense_Mutation_p.E219K|SETD5_ENST00000402198.1_Missense_Mutation_p.E200K Q9C0A6 SETD5_HUMAN SET domain containing 5 200 p.E200K(1)|p.E102K(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) GAATTTAGATGAGAATACAAC 0.433000 7 18 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37252967 37252967 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr7:37252967C>T ENST00000310758.4 - 12 1574 c.927G>A c.(925-927)atG>atA p.M309I ELMO1_ENST00000448602.1_Missense_Mutation_p.M309I|ELMO1_ENST00000442504.1_Missense_Mutation_p.M309I NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 309 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 TTTTGGTCATCATCCTGTCTT 0.498000 11 71 0 0 1 0 0 GRHL1 29841 broad.mit.edu 37 2 10136044 10136044 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:10136044G>A ENST00000324907.9 + 13 1673 c.1537G>A c.(1537-1539)Gac>Aac p.D513N GRHL1_ENST00000324883.5_Missense_Mutation_p.D324N|GRHL1_ENST00000480736.1_5'UTR|GRHL1_ENST00000405379.2_Missense_Mutation_p.D513N NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 513 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) CACAGAAGATGACTTTGCTGT 0.458000 30 202 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54876994 54876994 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:54876994G>A ENST00000333896.5 + 25 5791 c.5406G>A c.(5404-5406)aaG>aaA p.K1802K SPTBN1_ENST00000356805.4_Silent_p.K1815K NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1815 Interaction with ANK2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) ACGATGCCAAGGAGATCTTTG 0.493000 11 51 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5790413 5790413 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:5790413G>A ENST00000328090.5 + 15 5654 c.5029G>A c.(5029-5031)Gag>Aag p.E1677K NM_017782.4 NP_060252 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1677 AATAAATGCAGAGCCAGTGTT 0.453000 9 51 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92616261 92616261 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:92616261C>T ENST00000298047.6 + 23 12656 c.12639C>T c.(12637-12639)cgC>cgT p.R4213R FAT3_ENST00000525166.1_Silent_p.R4063R|FAT3_ENST00000533797.1_Silent_p.R548R|FAT3_ENST00000409404.2_Silent_p.R4213R Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4213 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGAACCTGCGCGGCAGTGGGG 0.657000 TCGA Ovarian(4;0.039) 15 72 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100911253 100911253 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:100911253G>A ENST00000369208.3 - 2 874 c.92C>T c.(91-93)tCg>tTg p.S31L SIM1_ENST00000262901.4_Missense_Mutation_p.S31L P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 31 Helix-loop-helix motif. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.S31L(1) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GGTGATAGCCGAGGGCAAAGG 0.458000 16 80 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24388577 24388577 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:24388577C>T ENST00000330966.7 - 33 3964 c.3802G>A c.(3802-3804)Gat>Aat p.D1268N MYOM3_ENST00000374434.3_Missense_Mutation_p.D1265N|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.D158N Q5VTT5 MYOM3_HUMAN myomesin 3 1265 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CTTATCCGATCACCACTCTCC 0.527000 19 147 0 0 1 0 0 ZNF781 163115 broad.mit.edu 37 19 38160986 38160986 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr19:38160986G>C ENST00000358582.4 - 4 812 c.64C>G c.(64-66)Caa>Gaa p.Q22E ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Missense_Mutation_p.Q22E NM_152605.3 NP_689818.2 Q8N8C0 ZN781_HUMAN zinc finger protein 781 22 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 ATTTGATATTGAGTTAGTTGA 0.343000 17 123 0 0 1 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 3 122 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28801013 28801013 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:28801013G>A ENST00000422425.2 + 22 1550 c.1506G>A c.(1504-1506)atG>atA p.M502I PLB1_ENST00000329020.6_Missense_Mutation_p.M179I|PLB1_ENST00000327757.5_Missense_Mutation_p.M491I NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 491 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TGGACCTGATGAAGAATGACA 0.582000 4 58 0 0 1 0 0 SIGIRR 59307 broad.mit.edu 37 11 408082 408082 + Nonsense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:408082G>A ENST00000431843.2 - 4 637 c.331C>T c.(331-333)Cag>Tag p.Q111* SIGIRR_ENST00000332725.3_Nonsense_Mutation_p.Q111*|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000382520.2_Nonsense_Mutation_p.Q111*|SIGIRR_ENST00000397632.3_Nonsense_Mutation_p.Q111*|SIGIRR_ENST00000531205.1_Nonsense_Mutation_p.Q111* NM_001135054.1 NP_001128526.1 Q6IA17 SIGIR_HUMAN single immunoglobulin and toll-interleukin 1 receptor (TIR) domain 111 acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity integral to membrane protein binding|transmembrane receptor activity cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 13 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCAGCTCTCTGAAGAGTGAAG 0.592000 18 69 0 0 1 0 0 ZNF75A 7627 broad.mit.edu 37 16 3367786 3367786 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:3367786G>C ENST00000574298.1 + 6 1281 c.808G>C c.(808-810)Gag>Cag p.E270Q ZNF75A_ENST00000498240.2_3'UTR NM_153028.2 NP_694573.1 Q96N20 ZN75A_HUMAN zinc finger protein 75a 270 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(7)|prostate(1) 12 CCACACAGGTGAGCAGCCATA 0.453000 17 70 0 0 1 0 0 AMIGO3 386724 broad.mit.edu 37 3 49756493 49756493 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:49756493C>T ENST00000535833.1 - 10 3856 c.406G>A c.(406-408)Gag>Aag p.E136K RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.E136K|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000497099.1_Intron|RNF123_ENST00000433785.1_Intron Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 136 heterophilic cell-cell adhesion integral to membrane endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AGCAGCTTCTCCAGCGCCCCC 0.632000 OREG0015572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 85 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159654497 159654497 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:159654497C>T ENST00000297267.9 + 11 3153 c.2953C>T c.(2953-2955)Cgg>Tgg p.R985W FNDC1_ENST00000340366.6_Missense_Mutation_p.R922W NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 985 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GCCCGCAGCACGGTCACAGCA 0.677000 3 14 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126237764 126237764 + Silent SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr4:126237764G>C ENST00000394329.3 + 1 211 c.198G>C c.(196-198)acG>acC p.T66T NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 66 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CCATCCAGACGCGCCCCGGCT 0.647000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 30 0 0 1 0 0 IL20RA 53832 broad.mit.edu 37 6 137330458 137330458 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:137330458C>T ENST00000367748.1 - 3 828 c.242G>A c.(241-243)aGa>aAa p.R81K IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000541547.1_Missense_Mutation_p.R143K|IL20RA_ENST00000367746.3_Missense_Mutation_p.R192K|IL20RA_ENST00000316649.5_Missense_Mutation_p.R192K NM_001278723.1 NP_001265652.1 Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha 192 Fibronectin type-III 1. integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) GCTTACCGTTCTGTTTGATTT 0.403000 14 91 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79959136 79959136 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr9:79959136C>T ENST00000360280.3 + 51 7354 c.7094C>T c.(7093-7095)cCt>cTt p.P2365L VPS13A_ENST00000376634.4_Missense_Mutation_p.P2365L|VPS13A_ENST00000376636.3_Missense_Mutation_p.P2326L|VPS13A_ENST00000357409.5_Missense_Mutation_p.P2365L NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 2365 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AGTGAAGATCCTCCCAAAAGG 0.303000 15 57 0 0 1 0 0 TRPM5 29850 broad.mit.edu 37 11 2428020 2428020 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:2428020C>T ENST00000452833.1 - 21 3136 c.3128G>A c.(3127-3129)aGa>aAa p.R1043K TRPM5_ENST00000533060.1_Missense_Mutation_p.R1041K|TRPM5_ENST00000528453.1_Missense_Mutation_p.R1041K|TRPM5_ENST00000155858.6_Missense_Mutation_p.R1041K|AC124057.5_ENST00000433035.1_RNA Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 1041 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) TGGCAGGTCTCTCTCTGGGAA 0.632000 6 44 0 0 1 0 0 ELAVL4 1996 broad.mit.edu 37 1 50642770 50642770 + Nonsense_Mutation SNP T T G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:50642770T>G ENST00000371824.1 + 3 517 c.260T>G c.(259-261)tTa>tGa p.L87* ELAVL4_ENST00000448907.2_Nonsense_Mutation_p.L90*|ELAVL4_ENST00000371827.1_Nonsense_Mutation_p.L87*|ELAVL4_ENST00000371823.4_Nonsense_Mutation_p.L87*|ELAVL4_ENST00000371819.1_Nonsense_Mutation_p.L92*|ELAVL4_ENST00000371821.1_Nonsense_Mutation_p.L92*|ELAVL4_ENST00000357083.4_Nonsense_Mutation_p.L104*|ELAVL4_ENST00000492299.1_3'UTR P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 87 RRM 1. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 GGACAGAGTTTAGGGTATGGA 0.393000 5 29 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31341460 31341460 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:31341460C>A ENST00000544665.3 + 26 3109 c.3038C>A c.(3037-3039)gCt>gAt p.A1013D ITGAM_ENST00000287497.8_Missense_Mutation_p.A1012D NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 1012 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 GACTTTCTGGCTGAGCTTCGG 0.597000 6 22 8.12818e-05 8.56586e-05 1 1 0 PCNT 5116 broad.mit.edu 37 21 47850003 47850003 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr21:47850003G>A ENST00000359568.5 + 36 7877 c.7770G>A c.(7768-7770)gaG>gaA p.E2590E PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2590 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) AAGAGCAAGAGAAGGCAAACA 0.512000 11 37 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129290522 129290522 + Silent SNP G G C rs111780083 TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:129290522G>C ENST00000393239.1 - 16 3421 c.3243C>G c.(3241-3243)gtC>gtG p.V1081V PLXND1_ENST00000324093.4_Silent_p.V1081V Q9Y4D7 PLXD1_HUMAN plexin D1 1081 IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 AGTCTCACCTGACAGGGCTGC 0.657000 19 95 0 0 1 0 0 SLC26A8 116369 broad.mit.edu 37 6 35923092 35923092 + Nonsense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:35923092G>C ENST00000490799.1 - 17 2422 c.2069C>G c.(2068-2070)tCa>tGa p.S690* SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.S690*|SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.S585* NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 690 Interaction with RACGAP1.|STAS. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 GCTGTTTCTTGATGAGTTATT 0.512000 4 60 0 0 1 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629539 9629539 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:9629539C>T ENST00000382492.2 - 1 924 c.606G>A c.(604-606)ggG>ggA p.G202G CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 202 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 GGGTGTGCCTCCCCAGAGAGA 0.502000 10 31 0 0 1 0 0 SGOL2 151246 broad.mit.edu 37 2 201400832 201400832 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:201400832G>C ENST00000357799.4 + 4 452 c.354G>C c.(352-354)ttG>ttC p.L118F SGOL2_ENST00000409203.3_Missense_Mutation_p.L118F|SGOL2_ENST00000469840.1_3'UTR NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 118 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 ACAATAACTTGATAACTGCAA 0.294000 8 82 0 0 1 0 0 FOXR1 283150 broad.mit.edu 37 11 118851213 118851213 + Missense_Mutation SNP T T C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:118851213T>C ENST00000317011.3 + 5 850 c.625T>C c.(625-627)Ttt>Ctt p.F209L NM_181721.2 NP_859072.1 Q6PIV2 FOXR1_HUMAN forkhead box R1 209 embryo development|organ development|pattern specification process|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 NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) GCACTTCCCCTTTTTCCGGAC 0.562000 3 74 0 0 1 0 0 MFSD10 10227 broad.mit.edu 37 4 2934873 2934873 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr4:2934873G>C ENST00000329687.4 - 3 866 c.332C>G c.(331-333)tCt>tGt p.S111C MFSD10_ENST00000355443.4_Missense_Mutation_p.S111C|MFSD10_ENST00000508221.1_Missense_Mutation_p.S111C|MFSD10_ENST00000507555.1_Missense_Mutation_p.S111C|MFSD10_ENST00000514800.1_Missense_Mutation_p.S111C NM_001120.4 NP_001111.3 Q14728 MFS10_HUMAN major facilitator superfamily domain containing 10 111 apoptosis integral to membrane tetracycline transporter activity breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CAAGCAGTCAGAGGTGGCCCC 0.632000 5 28 0 0 1 0 0 UTP11L 51118 broad.mit.edu 37 1 38484964 38484964 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:38484964C>T ENST00000373014.4 + 6 537 c.476C>T c.(475-477)cCg>cTg p.P159L UTP11L_ENST00000537711.1_Intron|UTP11L_ENST00000488453.1_3'UTR NM_016037.3 NP_057121.2 Q9Y3A2 UTP11_HUMAN UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast) 159 induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing cytoplasm|extracellular space|nucleolus|small-subunit processome protein binding NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CAAACAGCCCCGGAGCTAGTC 0.433000 25 115 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66259613 66259613 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:66259613G>C ENST00000405643.1 + 2 504 c.126G>C c.(124-126)tgG>tgC p.W42C MAST4_ENST00000404260.3_Intron|MAST4_ENST00000490016.2_Intron|MAST4_ENST00000407621.1_Missense_Mutation_p.W42C|MAST4_ENST00000403666.1_Intron|MAST4_ENST00000406374.1_Intron|MAST4_ENST00000403625.2_Intron|MAST4_ENST00000406039.1_Intron O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1308 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) TTCACTTTTGGAGGTAAGCAT 0.512000 21 61 0 0 1 0 0 NELFE 7936 broad.mit.edu 37 6 31922614 31922614 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:31922614C>G ENST00000375429.3 - 7 686 c.460G>C c.(460-462)Gag>Cag p.E154Q NELFE_ENST00000444811.2_Intron|NELFE_ENST00000375425.5_Missense_Mutation_p.E161Q NM_002904.5 NP_002895.3 negative elongation factor complex member E CCTGGGCCCTCTGCCTCTTCT 0.577000 22 133 0 0 1 0 0 CLUH 23277 broad.mit.edu 37 17 2603983 2603983 + Missense_Mutation SNP T T C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:2603983T>C ENST00000570628.2 - 8 1153 c.1048A>G c.(1048-1050)Att>Gtt p.I350V CLUH_ENST00000538975.1_Missense_Mutation_p.I350V|CLUH_ENST00000435359.1_Missense_Mutation_p.I350V clustered mitochondria (cluA/CLU1) homolog TGTCCAGGAATGTGCTCCTCA 0.662000 4 35 0 0 1 0 0 CMSS1 84319 broad.mit.edu 37 3 99881261 99881261 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:99881261G>A ENST00000421999.2 + 4 486 c.340G>A c.(340-342)Gaa>Aaa p.E114K CMSS1_ENST00000489081.1_Missense_Mutation_p.E96K NM_032359.3 NP_115735.2 cms1 ribosomal small subunit homolog (yeast) TGAATTAGAAGAACTGAACCT 0.408000 7 30 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112176224 112176224 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:112176224G>C ENST00000457016.1 + 16 5313 c.4933G>C c.(4933-4935)Gaa>Caa p.E1645Q APC_ENST00000508376.2_Missense_Mutation_p.E1645Q|APC_ENST00000257430.4_Missense_Mutation_p.E1645Q|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 1645 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.E1645Q(1)|p.K1192fs*3(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GTATTGTGTTGAAGGGACACC 0.453000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 3 73 0 0 1 0 0 ORMDL1 94101 broad.mit.edu 37 2 190640311 190640311 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:190640311G>A ENST00000325795.3 - 2 1092 c.306C>T c.(304-306)ttC>ttT p.F102F ORMDL1_ENST00000392350.3_Silent_p.F102F|ORMDL1_ENST00000392349.4_Silent_p.F102F|ORMDL1_ENST00000409519.1_Silent_p.F102F Q9P0S3 ORML1_HUMAN ORM1-like 1 (S. cerevisiae) 102 ceramide metabolic process endoplasmic reticulum membrane|integral to membrane breast(1)|urinary_tract(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889) GAGAAATTGTGAAAAACTTCC 0.383000 4 34 0 0 1 0 0 WDTC1 23038 broad.mit.edu 37 1 27623588 27623588 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:27623588C>T ENST00000319394.3 + 11 1534 c.999C>T c.(997-999)tcC>tcT p.S333S WDTC1_ENST00000361771.3_Silent_p.S332S NM_001276252.1|NM_015023.3 NP_001263181.1|NP_055838.2 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 333 protein binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) acggtgtgtccaaTGGCCTGC 0.562000 OREG0013279 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 21 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28908201 28908201 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr18:28908201G>C ENST00000257192.4 + 4 478 c.266G>C c.(265-267)gGa>gCa p.G89A NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 89 Cadherin 1. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) CGCATCTCTGGAGTAGGAATT 0.388000 15 65 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179575377 179575377 + Nonsense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:179575377G>A ENST00000589042.1 - 98 28671 c.28447C>T c.(28447-28449)Cag>Tag p.Q9483* TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q9166*|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q8239* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9166 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) ATATTCAGCTGAGCTGTGCAA 0.398000 10 110 0 0 1 0 0 NT5DC1 221294 broad.mit.edu 37 6 116436852 116436852 + Splice_Site SNP A A G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:116436852A>G ENST00000319550.4 + 5 446 c.e5-1 NM_152729.2 NP_689942.2 Q5TFE4 NT5D1_HUMAN 5'-nucleotidase domain containing 1 hydrolase activity|metal ion binding large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1) 8 all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469) all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112) GTTCTTTTTTAGGAAAGTATT 0.368000 8 20 0 0 1 0 0 SPIRE2 84501 broad.mit.edu 37 16 89925754 89925754 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:89925754G>C ENST00000378247.3 + 9 1497 c.1454G>C c.(1453-1455)cGa>cCa p.R485P SPIRE2_ENST00000393062.2_Missense_Mutation_p.R485P NM_032451.1 NP_115827.1 Q8WWL2 SPIR2_HUMAN spire-type actin nucleation factor 2 485 transport cytoplasm|cytoskeleton actin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) CCCGGCTCCCGAGACCAGGGC 0.697000 2 14 0 0 1 0 0 TBC1D20 128637 broad.mit.edu 37 20 422526 422526 + Nonsense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr20:422526C>A ENST00000354200.4 - 4 646 c.499G>T c.(499-501)Gaa>Taa p.E167* TBC1D20_ENST00000461188.1_5'UTR NM_144628.2 NP_653229.1 Q96BZ9 TBC20_HUMAN TBC1 domain family, member 20 167 Rab-GAP TBC. interspecies interaction between organisms integral to membrane|intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(17;0.228)|Breast(17;0.231) GATAATTTTTCTACCAGGGAT 0.537000 6 92 1.33987e-11 1.50461e-11 1 1 0 ADAM21P1 145241 broad.mit.edu 37 14 70714135 70714135 + RNA SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr14:70714135G>C ENST00000530196.1 - 0 383 NR_003951.1 TAGAAACCAAGAGCTTCTTAA 0.498000 3 61 0 0 1 0 0 UGT3A2 167127 broad.mit.edu 37 5 36049523 36049523 + Splice_Site SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:36049523C>T ENST00000282507.3 - 4 413 c.e4-1 UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Splice_Site|UGT3A2_ENST00000545528.1_Intron NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAATTTTCCTCTGTAAGAAAA 0.284000 5 22 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117698400 117698400 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:117698400G>C ENST00000317775.6 - 14 2922 c.2237C>G c.(2236-2238)tCg>tGg p.S746W NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.S746W NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 746 Calmodulin-binding (Potential). multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CAGCTTGGCCGAGAACTTGAC 0.522000 4 31 0 0 1 0 0 SF3B3 23450 broad.mit.edu 37 16 70562947 70562947 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:70562947G>A ENST00000302516.5 + 3 453 c.242G>A c.(241-243)gGc>gAc p.G81D NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 81 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) ATTGTAGTTGGCAGTGACTCT 0.458000 12 79 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175188 140175188 + Silent SNP G G T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:140175188G>T ENST00000526136.1 + 1 639 c.639G>T c.(637-639)gtG>gtT p.V213V PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.V213V|PCDHA2_ENST00000378132.1_Silent_p.V213V 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) TGTTACTGGTGGCTACTGATG 0.428000 23 66 7.92952e-12 8.94111e-12 1 1 0 PGM1 5236 broad.mit.edu 37 1 64095755 64095755 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:64095755C>T ENST00000371083.4 + 3 974 c.606C>T c.(604-606)ttC>ttT p.F202F PGM1_ENST00000371084.3_Silent_p.F184F|PGM1_ENST00000540265.1_5'UTR NM_001172818.1 NP_001166289.1 P36871 PGM1_HUMAN phosphoglucomutase 1 184 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TCAAACCCTTCACAGGCATGT 0.428000 7 83 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47690422 47690422 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr21:47690422C>A ENST00000397708.1 - 10 2775 c.2521G>T c.(2521-2523)Gtt>Ttt p.V841F MCM3AP_ENST00000291688.1_Missense_Mutation_p.V841F O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 841 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) AAAGCCTGAACAGCAAATTTC 0.363000 3 68 0.115264 0.116972 1 1 0 ARID4A 5926 broad.mit.edu 37 14 58831244 58831244 + Missense_Mutation SNP G G T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr14:58831244G>T ENST00000355431.3 + 20 2810 c.2437G>T c.(2437-2439)Ggc>Tgc p.G813C ARID4A_ENST00000348476.3_Missense_Mutation_p.G813C|ARID4A_ENST00000395168.3_Missense_Mutation_p.G813C|ARID4A_ENST00000431317.2_Missense_Mutation_p.G813C NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 813 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TTCATCATTTGGCCAGAATGA 0.333000 8 22 2.74318e-10 3.05541e-10 1 1 0 NELFE 7936 broad.mit.edu 37 6 31922347 31922347 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:31922347C>G ENST00000375429.3 - 7 953 c.727G>C c.(727-729)Gag>Cag p.E243Q NELFE_ENST00000444811.2_Missense_Mutation_p.E213Q|NELFE_ENST00000375425.5_Missense_Mutation_p.E250Q NM_002904.5 NP_002895.3 negative elongation factor complex member E AAAGGACCCtctcggtctcgg 0.562000 10 50 0 0 1 0 0 SEC24A 10802 broad.mit.edu 37 5 134023941 134023941 + Nonsense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:134023941C>T ENST00000398844.2 + 11 1963 c.1675C>T c.(1675-1677)Cag>Tag p.Q559* SEC24A_ENST00000322887.4_Nonsense_Mutation_p.Q559* NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 559 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTACGGTCTTCAGGAAAGTCT 0.313000 13 41 0 0 1 0 0 EEA1 8411 broad.mit.edu 37 12 93247696 93247696 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:93247696G>A ENST00000322349.8 - 6 665 c.401C>T c.(400-402)tCa>tTa p.S134L NM_003566.3 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1 134 early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 GTTACCTGCTGATGAATCAGT 0.308000 8 28 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62296070 62296070 + Missense_Mutation SNP A A G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:62296070A>G ENST00000378024.4 - 5 6093 c.5819T>C c.(5818-5820)gTg>gCg p.V1940A AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1940 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CGACACATCCACATCCCCTTT 0.502000 5 259 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55587219 55587219 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:55587219G>A ENST00000373965.2 - 33 4716 c.4322C>T c.(4321-4323)gCg>gTg p.A1441V PCDH15_ENST00000395433.1_Missense_Mutation_p.A1409V|PCDH15_ENST00000320301.6_Missense_Mutation_p.A1434V|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1434V|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1436V|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1363V|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1441V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1434V|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1431V|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1394V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.A1045V|PCDH15_ENST00000395446.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1434 Poly-Pro. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) cggcgggggcgCTGCCACTGG 0.577000 HNSCC(58;0.16) 10 59 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37182716 37182716 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr20:37182716G>A ENST00000262879.6 + 22 3653 c.3369G>A c.(3367-3369)ctG>ctA p.L1123L RALGAPB_ENST00000397042.3_Silent_p.L1119L|RALGAPB_ENST00000397040.1_Silent_p.L1123L|RALGAPB_ENST00000397038.1_Silent_p.L901L Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 1123 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TAGAAGCACTGAAGGTAATTT 0.383000 25 69 0 0 1 0 0 TTLL9 164395 broad.mit.edu 37 20 30525290 30525290 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr20:30525290C>A ENST00000375938.4 + 13 1349 c.1096C>A c.(1096-1098)Cat>Aat p.H366N TTLL9_ENST00000535842.1_Missense_Mutation_p.H366N|TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000375922.4_Missense_Mutation_p.H308N|TTLL9_ENST00000375921.2_3'UTR|TTLL9_ENST00000310998.4_Missense_Mutation_p.H331N Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 366 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AGACACCCTGCATGTTGTGGA 0.572000 11 40 5.50884e-06 5.9193e-06 1 1 0 PHACTR4 65979 broad.mit.edu 37 1 28819542 28819542 + Nonsense_Mutation SNP G G T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:28819542G>T ENST00000373839.3 + 13 2293 c.2032G>T c.(2032-2034)Gaa>Taa p.E678* PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Nonsense_Mutation_p.E688* NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 678 actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) CATAAGAAAAGAATTAAATGA 0.388000 4 77 0.150653 0.152321 1 1 0 NTHL1 4913 broad.mit.edu 37 16 2094652 2094652 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:2094652G>C ENST00000219066.1 - 3 546 c.528C>G c.(526-528)atC>atG p.I176M NM_002528.5 NP_002519.1 P78549 NTHL1_HUMAN nth endonuclease III-like 1 (E. coli) 176 I -> T (in dbSNP:rs1805378). depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion nucleoplasm 4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding lung(1) 1 CGACGGGGTAGATGAGCTTGC 0.682000 Base excision repair (BER), DNA glycosylases 5 70 0 0 1 0 0 TTYH2 94015 broad.mit.edu 37 17 72233573 72233573 + Silent SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:72233573C>G ENST00000269346.4 + 4 629 c.555C>G c.(553-555)ctC>ctG p.L185L TTYH2_ENST00000529107.1_Silent_p.L164L NM_032646.5 NP_116035.5 Q9BSA4 TTYH2_HUMAN tweety family member 2 185 chloride channel complex|plasma membrane chloride channel activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1) 36 TTGTTCAGCTCTCAGGACTGC 0.602000 6 83 0 0 1 0 0 ATP11A 23250 broad.mit.edu 37 13 113532571 113532571 + Missense_Mutation SNP T T A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr13:113532571T>A ENST00000487903.1 + 29 3456 c.3368T>A c.(3367-3369)tTt>tAt p.F1123Y ATP11A_ENST00000283558.8_Missense_Mutation_p.F1123Y|ATP11A_ENST00000375630.2_Intron|ATP11A_ENST00000375645.3_Missense_Mutation_p.F1123Y P98196 AT11A_HUMAN ATPase, class VI, type 11A 1123 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) TCAACCATCTTTATGCTTTCT 0.547000 4 80 0 0 1 0 0 ATF6 22926 broad.mit.edu 37 1 161823073 161823073 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:161823073G>A ENST00000367942.3 + 12 1560 c.1493G>A c.(1492-1494)aGa>aAa p.R498K ATF6_ENST00000476437.1_3'UTR NM_007348.3 NP_031374.2 P18850 ATF6A_HUMAN activating transcription factor 6 498 positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) ACCAAGTCAAGAAGAATGACA 0.328000 3 32 0 0 1 0 0 SURF1 6834 broad.mit.edu 37 9 136220672 136220672 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr9:136220672G>A ENST00000371974.3 - 5 478 c.447C>T c.(445-447)ggC>ggT p.G149G SURF1_ENST00000495952.1_5'UTR NM_001280787.1|NM_003172.2 NP_001267716.1|NP_003163.1 Q15526 SURF1_HUMAN surfeit 1 149 aerobic respiration|respiratory chain complex IV assembly integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity breast(2)|endometrium(1)|ovary(2)|stomach(1) 6 OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05) AGATGAGGCCGCCCTCCCGGG 0.612000 4 159 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43181255 43181255 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:43181255C>T ENST00000252050.4 + 28 5522 c.5438C>T c.(5437-5439)tCa>tTa p.S1813L CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000372647.2_Missense_Mutation_p.S1813L|CUL9_ENST00000354495.3_Missense_Mutation_p.S1703L NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1813 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CCCCTCACCTCAGGGAATGGC 0.632000 12 65 0 0 1 0 0 CLUH 23277 broad.mit.edu 37 17 2601720 2601720 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:2601720G>A ENST00000570628.2 - 10 1422 c.1317C>T c.(1315-1317)ttC>ttT p.F439F CLUH_ENST00000538975.1_Silent_p.F439F|CLUH_ENST00000435359.1_Silent_p.F439F clustered mitochondria (cluA/CLU1) homolog CGTCCCCCCCGAAGTCCTTGT 0.622000 11 17 0 0 1 0 0 DYNC2LI1 51626 broad.mit.edu 37 2 44036863 44036863 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:44036863G>C ENST00000260605.8 + 13 1113 c.1013G>C c.(1012-1014)aGa>aCa p.R338T DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.R212T|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.R339T NM_001193464.1|NM_016008.3 NP_001180393.1|NP_057092.2 Q8TCX1 DC2L1_HUMAN dynein, cytoplasmic 2, light intermediate chain 1 338 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1) 26 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CAGTACAAAAGAAGTTCTTCC 0.284000 5 22 0 0 1 0 0 SF3B5 83443 broad.mit.edu 37 6 144416498 144416498 + Missense_Mutation SNP T T C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:144416498T>C ENST00000367569.2 - 1 256 c.137A>G c.(136-138)cAc>cGc p.H46R NM_031287.2 NP_112577.1 Q9BWJ5 SF3B5_HUMAN splicing factor 3b, subunit 5, 10kDa 46 nuclear mRNA splicing, via spliceosome nucleoplasm|U12-type spliceosomal complex lung(2)|prostate(1) 3 OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638) AAGGTCGAAGTGGCCCATGTA 0.572000 20 68 0 0 1 0 0 ITGA2 3673 broad.mit.edu 37 5 52361774 52361774 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:52361774C>T ENST00000296585.5 + 15 2053 c.1910C>T c.(1909-1911)tCt>tTt p.S637F NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 637 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) ACCGATGTGTCTATTGGTGCC 0.458000 21 91 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113353910 113353910 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr8:113353910G>A ENST00000297405.5 - 42 6692 c.6448C>T c.(6448-6450)Cat>Tat p.H2150Y CSMD3_ENST00000343508.3_Missense_Mutation_p.H2110Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H2080Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2046Y NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2150 CUB 12. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AACTGGAGATGTACACCTGAA 0.343000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 19 0 0 1 0 0 MAPK13 5603 broad.mit.edu 37 6 36098379 36098379 + Missense_Mutation SNP A A G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:36098379A>G ENST00000211287.4 + 1 282 c.20A>G c.(19-21)aAg>aGg p.K7R MAPK13_ENST00000373766.5_Missense_Mutation_p.K7R|MAPK13_ENST00000373761.6_Missense_Mutation_p.K7R NM_002754.4 NP_002745.1 O15264 MK13_HUMAN mitogen-activated protein kinase 13 7 cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress ATP binding|MAP kinase activity|protein binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1) 12 ATCCGGAAAAAGGGCTTCTAC 0.697000 2 10 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22807156 22807156 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr18:22807156C>T ENST00000361524.3 - 4 874 c.726G>A c.(724-726)atG>atA p.M242I ZNF521_ENST00000584787.1_Missense_Mutation_p.M22I|ZNF521_ENST00000538137.2_Missense_Mutation_p.M242I NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 242 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GAGTGTCCTTCATCTTCCAGT 0.527000 T PAX5 ALL 16 59 0 0 1 0 0 FOXF2 2295 broad.mit.edu 37 6 1390569 1390569 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:1390569C>A ENST00000259806.1 + 1 501 c.387C>A c.(385-387)ttC>ttA p.F129L NM_001452.1 NP_001443.1 Q12947 FOXF2_HUMAN forkhead box F2 129 epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding large_intestine(2)|lung(5)|prostate(1) 8 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) TCTACCAGTTCCTGCAGGCGC 0.632000 6 29 3.59834e-05 3.80673e-05 1 1 0 RALGAPB 57148 broad.mit.edu 37 20 37182516 37182516 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr20:37182516G>C ENST00000262879.6 + 22 3453 c.3169G>C c.(3169-3171)Gag>Cag p.E1057Q RALGAPB_ENST00000397042.3_Missense_Mutation_p.E1053Q|RALGAPB_ENST00000397040.1_Missense_Mutation_p.E1057Q|RALGAPB_ENST00000397038.1_Missense_Mutation_p.E835Q Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 1057 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 ACAGTTAGAAGAGAGACACGA 0.328000 7 20 0 0 1 0 0 RCOR2 283248 broad.mit.edu 37 11 63681907 63681907 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:63681907C>T ENST00000301459.4 - 6 974 c.587G>A c.(586-588)cGc>cAc p.R196H NM_173587.3 NP_775858.2 Q8IZ40 RCOR2_HUMAN REST corepressor 2 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 17 TTTGTCCTTGCGGCCCCCCAG 0.602000 4 97 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166848189 166848189 + Missense_Mutation SNP C C A rs121918815 TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:166848189C>A ENST00000423058.2 - 26 5613 c.5596G>T c.(5596-5598)Gat>Tat p.D1866Y AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.D1838Y|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.D1855Y|SCN1A_ENST00000303395.4_Missense_Mutation_p.D1866Y NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1866 D -> Y (in GEFS+2; causes a positive shift in the voltage dependence of sodium channel fast inactivation; causes an increase in the magnitude of the persistent current and a delay in the kinetics of inactivation; dbSNP:rs121918815). voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AATAAGATATCAAGACAGTGG 0.483000 10 79 2.17888e-05 2.32301e-05 1 1 0 LDLR 3949 broad.mit.edu 37 19 11213402 11213402 + Nonsense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr19:11213402C>T ENST00000558518.1 + 3 440 c.253C>T c.(253-255)Cag>Tag p.Q85* LDLR_ENST00000455727.2_Nonsense_Mutation_p.Q85*|LDLR_ENST00000545707.1_Nonsense_Mutation_p.Q85*|LDLR_ENST00000535915.1_Intron|LDLR_ENST00000557933.1_Nonsense_Mutation_p.Q85*|LDLR_ENST00000558013.1_Nonsense_Mutation_p.Q85* NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 85 LDL-receptor class A 2. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CTGCATTCCTCAGTTCTGGAG 0.547000 27 125 0 0 1 0 0 CYP39A1 51302 broad.mit.edu 37 6 46607286 46607286 + Nonsense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:46607286C>A ENST00000275016.2 - 3 636 c.433G>T c.(433-435)Gaa>Taa p.E145* NM_016593.3 NP_057677.2 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, polypeptide 1 145 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity EIF3K/CYP39A1(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2) 21 TCCAGTTGTTCATGTAATTCT 0.363000 9 82 2.17888e-05 2.32301e-05 1 1 0 ABHD15 116236 broad.mit.edu 37 17 27889911 27889911 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:27889911C>T ENST00000307201.4 - 2 1245 c.1075G>A c.(1075-1077)Gac>Aac p.D359N RP11-68I3.2_ENST00000581474.1_RNA NM_198147.2 NP_937790.2 Q6UXT9 ABH15_HUMAN abhydrolase domain containing 15 359 extracellular region carboxylesterase activity breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 10 ACGGGGTCGTCAGCACTGCAG 0.602000 9 69 0 0 1 0 0 GIGYF2 26058 broad.mit.edu 37 2 233655998 233655998 + Nonsense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:233655998C>A ENST00000373566.3 + 13 1387 c.1190C>A c.(1189-1191)tCa>tAa p.S397* GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.S375*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.S206*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.S375*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.S397*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.S396*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.S369* Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 375 cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) CAGACCTCATCATCATCTGCT 0.428000 14 62 0.00074312 0.000771269 1 1 0 ZNF660 285349 broad.mit.edu 37 3 44636265 44636265 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:44636265G>C ENST00000322734.2 + 3 913 c.580G>C c.(580-582)Gag>Cag p.E194Q RP11-944L7.4_ENST00000457331.1_RNA NM_173658.2 NP_775929.2 Q6AZW8 ZN660_HUMAN zinc finger protein 660 194 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) CAAATGTAAGGAGTGTGGGAA 0.393000 14 56 0 0 1 0 0 MTMR3 8897 broad.mit.edu 37 22 30403279 30403279 + Missense_Mutation SNP A A G rs138787389 byFrequency TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr22:30403279A>G ENST00000333027.3 + 10 1176 c.848A>G c.(847-849)aAt>aGt p.N283S MTMR3_ENST00000406629.1_Missense_Mutation_p.N283S|MTMR3_ENST00000351488.3_Missense_Mutation_p.N283S|MTMR3_ENST00000323630.5_Missense_Mutation_p.N147S|MTMR3_ENST00000401950.2_Missense_Mutation_p.N283S NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 283 Myotubularin phosphatase. 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) GACTTTCCCAATGGGGGAGAC 0.493000 10 42 0 0 1 0 0 UGT1A1 54658 broad.mit.edu 37 2 234669201 234669201 + Nonsense_Mutation SNP G G T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:234669201G>T ENST00000360418.3 + 1 268 c.268G>T c.(268-270)Gag>Tag p.E90* UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A8_ENST00000305208.5_Nonsense_Mutation_p.E90*|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608383.1_Nonsense_Mutation_p.E90*|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron P22309 UD11_HUMAN 90 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) GGATGTGAAAGAGTCTTTTGT 0.423000 11 158 4.3838e-07 4.76651e-07 1 1 0 PNLIP 5406 broad.mit.edu 37 10 118321149 118321149 + Splice_Site SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:118321149G>A ENST00000369221.2 + 12 1362 c.e12+1 NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TTGGAAAACAGTAAGTAATGA 0.363000 19 70 0 0 1 0 0 MIR99AHG 388815 broad.mit.edu 37 21 17443531 17443531 + RNA SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr21:17443531C>G ENST00000458468.1 + 0 125 NR_027790.1 GAGGGAGACTCTCTCTTAGGG 0.522000 30 78 0 0 1 0 0 TMEM104 54868 broad.mit.edu 37 17 72781647 72781647 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:72781647C>T ENST00000335464.5 + 3 234 c.72C>T c.(70-72)ctC>ctT p.L24L TMEM104_ENST00000582773.1_Silent_p.L24L|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Silent_p.L24L NM_017728.3 NP_060198.3 Q8NE00 TM104_HUMAN transmembrane protein 104 24 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) TGTTTAACCTCATCGTGGGCA 0.572000 21 195 0 0 1 0 0 PHF20L1 51105 broad.mit.edu 37 8 133851656 133851656 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr8:133851656G>A ENST00000395386.2 + 18 2515 c.2216G>A c.(2215-2217)cGt>cAt p.R739H AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.R126H|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R714H NM_016018.4 NP_057102.4 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 739 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GCAAAATATCGTTATGATAAG 0.368000 20 113 0 0 1 0 0 DYNC2LI1 51626 broad.mit.edu 37 2 44036898 44036898 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:44036898G>C ENST00000260605.8 + 13 1148 c.1048G>C c.(1048-1050)Gat>Cat p.D350H DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.D224H|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.D351H NM_001193464.1|NM_016008.3 NP_001180393.1|NP_057092.2 Q8TCX1 DC2L1_HUMAN dynein, cytoplasmic 2, light intermediate chain 1 350 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1) 26 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) AATCGAGCTTGATTCTTGAAC 0.269000 3 13 0 0 1 0 0 OR14J1 442191 broad.mit.edu 37 6 29274561 29274561 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:29274561C>T ENST00000377160.2 + 1 159 c.95C>T c.(94-96)aCa>aTa p.T32I NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 TTTCTGGTGACATACCTGCTG 0.438000 12 71 0 0 1 0 0 PAN3 255967 broad.mit.edu 37 13 28834599 28834599 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr13:28834599C>T ENST00000399613.1 + 7 727 c.664C>T c.(664-666)Cat>Tat p.H222Y PAN3_ENST00000282391.5_Missense_Mutation_p.H110Y|PAN3_ENST00000380958.3_Missense_Mutation_p.H422Y Q58A45 PAN3_HUMAN PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 422 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) TCCAAACTATCATATTTATCC 0.428000 24 56 0 0 1 0 0 TAPBP 6892 broad.mit.edu 37 6 33271748 33271748 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:33271748C>T ENST00000434618.2 - 7 1664 c.1319G>A c.(1318-1320)tGc>tAc p.C440Y TAPBP_ENST00000489157.1_Missense_Mutation_p.C353Y|TAPBP_ENST00000456592.2_Missense_Mutation_p.C440Y|TAPBP_ENST00000426633.2_Missense_Mutation_p.C440Y|TAPBP_ENST00000475304.1_Missense_Mutation_p.C458Y NM_003190.4|NM_172209.2 NP_003181.3|NP_757346.2 O15533 TPSN_HUMAN TAP binding protein (tapasin) 440 antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|MHC class I peptide loading complex|microsome MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding endometrium(2)|large_intestine(5)|lung(8)|ovary(3) 18 TGAATCCTTGCAGGTGGACAG 0.532000 14 83 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141812761 141812761 + Silent SNP G G A rs149937533 TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:141812761G>A ENST00000389484.3 - 10 2447 c.1476C>T c.(1474-1476)ctC>ctT p.L492L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 492 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AACTGCTGCTGAGTAGACAGA 0.428000 TSP Lung(27;0.18) 7 71 0 0 1 0 0 VENTX 27287 broad.mit.edu 37 10 135053307 135053307 + Missense_Mutation SNP G G T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:135053307G>T ENST00000325980.9 + 2 880 c.369G>T c.(367-369)agG>agT p.R123S NM_014468.3 NP_055283.1 O95231 VENTX_HUMAN VENT homeobox 123 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1) 14 all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05) AGCGGAAGAGGCTGGCCAGGG 0.687000 3 31 1 1 1 1 0 SLC26A10 65012 broad.mit.edu 37 12 58017661 58017661 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:58017661C>T ENST00000379218.2 + 8 1407 c.1096C>T c.(1096-1098)Ctg>Ttg p.L366L SLC26A10_ENST00000320442.4_Silent_p.L366L Q8NG04 S2610_HUMAN solute carrier family 26, member 10 366 integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) GTCGGTGCTGCTGTGGCTGGG 0.562000 14 84 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98744726 98744726 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:98744726G>A ENST00000477737.1 + 6 931 c.727G>A c.(727-729)Gtg>Atg p.V243M VWA3B_ENST00000451075.2_Missense_Mutation_p.V93M|VWA3B_ENST00000435344.1_Missense_Mutation_p.V243M NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 243 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CTACTTTGTGGTGGGGGATGT 0.498000 31 106 0 0 1 0 0 AMBRA1 55626 broad.mit.edu 37 11 46567156 46567156 + Silent SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:46567156G>C ENST00000458649.2 - 5 967 c.549C>G c.(547-549)gtC>gtG p.V183V AMBRA1_ENST00000314845.3_Silent_p.V183V|AMBRA1_ENST00000426438.1_Silent_p.V183V|AMBRA1_ENST00000534300.1_Silent_p.V183V|AMBRA1_ENST00000533727.1_Silent_p.V183V|AMBRA1_ENST00000528950.1_Silent_p.V183V|AMBRA1_ENST00000298834.3_Silent_p.V183V Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 183 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) GCACTCACCGGACCCGTTCCA 0.547000 14 97 0 0 1 0 0 NFATC3 4775 broad.mit.edu 37 16 68224692 68224692 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:68224692G>A ENST00000349223.5 + 9 2344 c.2120G>A c.(2119-2121)aGa>aAa p.R707K NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.R707K|NFATC3_ENST00000575270.1_Missense_Mutation_p.R707K|NFATC3_ENST00000329524.4_Missense_Mutation_p.R707K NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 707 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) CAAGAACACAGAGAAGAGATT 0.388000 6 120 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168100246 168100246 + Silent SNP T T C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:168100246T>C ENST00000519560.1 - 33 4196 c.3777A>G c.(3775-3777)ccA>ccG p.P1259P SLIT3_ENST00000404867.3_Silent_p.P1259P|SLIT3_ENST00000332966.8_Silent_p.P1266P NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1259 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCAGGCTCTTTGGAGTTCCTT 0.552000 19 60 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122130270 122130270 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr7:122130270C>A ENST00000334010.7 - 11 2138 c.1717G>T c.(1717-1719)Gat>Tat p.D573Y CADPS2_ENST00000449022.2_Missense_Mutation_p.D573Y|CADPS2_ENST00000412584.2_Missense_Mutation_p.D573Y|CADPS2_ENST00000313070.7_Missense_Mutation_p.D573Y NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 573 PH. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 TGTTCATCATCACTGGCAAAG 0.388000 6 133 1.26484e-09 1.39745e-09 1 1 0 GLA 2717 broad.mit.edu 37 X 100656704 100656704 + Missense_Mutation SNP C C G rs113419388 TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chrX:100656704C>G ENST00000218516.3 - 3 484 c.463G>C c.(463-465)Gat>Cat p.D155H RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000479445.1_5'UTR NM_000169.2 NP_000160.1 P06280 AGAL_HUMAN galactosidase, alpha 155 glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process extracellular region|Golgi apparatus|lysosome cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding endometrium(1)|kidney(1)|large_intestine(4)|lung(8) 14 Agalsidase beta(DB00103) GTCTGGGCATCAATGTCGTAG 0.428000 29 42 0 0 1 0 0 USP15 9958 broad.mit.edu 37 12 62783261 62783261 + Silent SNP A A G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:62783261A>G ENST00000280377.5 + 12 1582 c.1524A>G c.(1522-1524)gcA>gcG p.A508A USP15_ENST00000393654.3_Silent_p.A483A|USP15_ENST00000353364.3_Silent_p.A479A NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 508 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) TTTGTACAGCATTGTCTGCTT 0.308000 14 51 0 0 1 0 0 REC8 9985 broad.mit.edu 37 14 24648055 24648055 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr14:24648055G>A ENST00000311457.3 + 15 1732 c.1133G>A c.(1132-1134)cGa>cAa p.R378Q REC8_ENST00000559919.1_Missense_Mutation_p.R378Q O95072 REC8_HUMAN REC8 meiotic recombination protein 379 Glu-rich. 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) GCCCTCAGGCGAGAGCTGCCT 0.582000 14 186 0 0 1 0 0 GDF9 2661 broad.mit.edu 37 5 132198223 132198223 + Silent SNP T T C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:132198223T>C ENST00000378673.2 - 3 1289 c.423A>G c.(421-423)ctA>ctG p.L141L GDF9_ENST00000464378.1_5'UTR|GDF9_ENST00000296875.2_Silent_p.L141L O60383 GDF9_HUMAN growth differentiation factor 9 141 female gamete generation|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 22 all_cancers(142;0.105)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCAGGTTAAATAGCAGTTCCA 0.383000 11 29 0 0 1 0 0 SYNM 23336 broad.mit.edu 37 15 99670051 99670051 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr15:99670051C>G ENST00000336292.6 + 5 1603 c.1483C>G c.(1483-1485)Ctg>Gtg p.L495V SYNM_ENST00000560674.1_Missense_Mutation_p.L210V|SYNM_ENST00000328642.7_Missense_Mutation_p.L495V|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA NM_145728.2 NP_663780.2 O15061 SYNEM_HUMAN synemin, intermediate filament protein 496 Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 GACCGTCATTCTGGGAAAGAA 0.493000 3 21 0 0 1 0 0 MFSD10 10227 broad.mit.edu 37 4 2934901 2934901 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr4:2934901G>A ENST00000329687.4 - 3 838 c.304C>T c.(304-306)Ctg>Ttg p.L102L MFSD10_ENST00000355443.4_Silent_p.L102L|MFSD10_ENST00000508221.1_Silent_p.L102L|MFSD10_ENST00000507555.1_Silent_p.L102L|MFSD10_ENST00000514800.1_Silent_p.L102L NM_001120.4 NP_001111.3 Q14728 MFS10_HUMAN major facilitator superfamily domain containing 10 102 apoptosis integral to membrane tetracycline transporter activity breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GGCGCACACAGAAACTGCAGG 0.617000 3 31 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16276399 16276399 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:16276399G>A ENST00000205557.7 - 17 2146 c.2117C>T c.(2116-2118)tCt>tTt p.S706F ABCC6_ENST00000574094.1_Intron NM_001171.5 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 706 ABC transporter 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CTCTACCACAGAGGTGTTCTG 0.577000 10 51 0 0 1 0 0 MAK 4117 broad.mit.edu 37 6 10796367 10796367 + Missense_Mutation SNP T T G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:10796367T>G ENST00000313243.2 - 9 1389 c.1007A>C c.(1006-1008)cAg>cCg p.Q336P MAK_ENST00000354489.2_Missense_Mutation_p.Q336P|MAK_ENST00000536370.1_3'UTR|MAK_ENST00000538030.1_Missense_Mutation_p.Q336P|RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.Q336P P20794 MAK_HUMAN male germ cell-associated kinase 336 Glu/Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1) 22 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) AGTTTTTGGCTGGGGTTGTCC 0.502000 9 77 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21613156 21613156 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chrX:21613156G>A ENST00000425654.2 + 15 2285 c.1805G>A c.(1804-1806)cGc>cAc p.R602H CNKSR2_ENST00000543067.1_Missense_Mutation_p.R583H|CNKSR2_ENST00000279451.4_Missense_Mutation_p.R632H|CNKSR2_ENST00000379510.3_Missense_Mutation_p.R632H NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 632 PH. regulation of signal transduction cytoplasm|membrane protein binding p.R632H(1) breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 AGTGAATGCCGCAAAAAATAG 0.323000 8 9 0 0 1 0 0 TXLNB 167838 broad.mit.edu 37 6 139583802 139583802 + Missense_Mutation SNP C C G rs140293549 TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:139583802C>G ENST00000358430.3 - 5 1028 c.796G>C c.(796-798)Gag>Cag p.E266Q NM_153235.3 NP_694967.3 Q8N3L3 TXLNB_HUMAN taxilin beta 266 cytoplasm breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) ATATTTCGCTCACTCTGCTGC 0.502000 17 57 0 0 1 0 0 RPGR 6103 broad.mit.edu 37 X 38156638 38156638 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chrX:38156638G>C ENST00000378505.2 - 11 1489 c.1313C>G c.(1312-1314)tCt>tGt p.S438C TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000339363.3_Missense_Mutation_p.S438C|RPGR_ENST00000342811.3_Missense_Mutation_p.S438C|RPGR_ENST00000309513.3_Missense_Mutation_p.S376C|RPGR_ENST00000318842.7_Missense_Mutation_p.S438C|RPGR_ENST00000338898.3_Missense_Mutation_p.S438C NM_001034853.1 NP_001030025.1 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 438 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 AAAACAAGCAGAAAGGCCAAG 0.428000 10 20 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61026231 61026231 + Silent SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:61026231G>C ENST00000335613.5 - 20 3170 c.2784C>G c.(2782-2784)ctC>ctG p.L928L VWCE_ENST00000535710.1_Silent_p.L393L NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 928 extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 GGGCTGTGGAGAGTCTAGAGG 0.642000 13 64 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32015617 32015617 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:32015617C>T ENST00000375244.3 - 30 10419 c.10218G>A c.(10216-10218)cgG>cgA p.R3406R TNXB_ENST00000375247.2_Silent_p.R3404R P22105 TENX_HUMAN tenascin XB 3451 Fibronectin type-III 26. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CTGTGACCTCCCGCTGGTTGG 0.602000 4 15 0 0 1 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140782758 140782758 + Missense_Mutation SNP G G T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:140782758G>T ENST00000573521.1 + 1 239 c.239G>T c.(238-240)cGc>cTc p.R80L PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGAACCCGCGCAGCGGCACC 0.612000 8 37 0.00307968 0.0031723 1 1 0 MEFV 4210 broad.mit.edu 37 16 3293384 3293384 + Silent SNP C C T rs104895095 TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:3293384C>T ENST00000219596.1 - 10 2142 c.2103G>A c.(2101-2103)gcG>gcA p.A701A MEFV_ENST00000536379.1_Silent_p.A490A|MEFV_ENST00000339854.4_Silent_p.A521A|MEFV_ENST00000541159.1_3'UTR NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 701 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding p.A701A(1) NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) GAACGCTGGACGCCTGGTACT 0.517000 14 69 0 0 1 0 0 METRNL 284207 broad.mit.edu 37 17 81052039 81052039 + Missense_Mutation SNP G G A rs147805686 TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:81052039G>A ENST00000571814.1 + 3 1350 c.409G>A c.(409-411)Gag>Aag p.E137K METRNL_ENST00000570778.1_Missense_Mutation_p.E137K|METRNL_ENST00000571940.1_3'UTR|METRNL_ENST00000320095.7_Missense_Mutation_p.E219K Q641Q3 METRL_HUMAN meteorin, glial cell differentiation regulator-like 219 extracellular region endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) CCACGAGCCTGAGCGGCAGGA 0.637000 4 167 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176696618 176696618 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:176696618G>C ENST00000439151.2 + 16 5364 c.5319G>C c.(5317-5319)gaG>gaC p.E1773D NSD1_ENST00000361032.4_Missense_Mutation_p.E1670D|NSD1_ENST00000347982.4_Missense_Mutation_p.E1504D|NSD1_ENST00000354179.4_Missense_Mutation_p.E1504D NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1773 PWWP 2. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GGCCAGCTGAGATCTGCCATC 0.433000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 3 48 0 0 1 0 0 ZFP30 22835 broad.mit.edu 37 19 38126225 38126225 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr19:38126225C>T ENST00000351218.2 - 6 1774 c.1217G>A c.(1216-1218)gGa>gAa p.G406E ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000392144.1_Missense_Mutation_p.G406E|ZFP30_ENST00000514101.2_Missense_Mutation_p.G406E NM_014898.2 NP_055713.1 Q9Y2G7 ZFP30_HUMAN ZFP30 zinc finger protein 406 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGGTTTCTCTCCAATGTGAAT 0.388000 8 47 0 0 1 0 0 GRAMD3 65983 broad.mit.edu 37 5 125813438 125813438 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:125813438C>A ENST00000285689.3 + 6 1002 c.541C>A c.(541-543)Cta>Ata p.L181I GRAMD3_ENST00000511134.1_Missense_Mutation_p.L165I|GRAMD3_ENST00000502348.1_Missense_Mutation_p.L72I|GRAMD3_ENST00000513040.1_Missense_Mutation_p.L196I|GRAMD3_ENST00000515200.1_Missense_Mutation_p.L158I|GRAMD3_ENST00000542322.1_Missense_Mutation_p.L189I|GRAMD3_ENST00000544396.1_Missense_Mutation_p.L77I|GRAMD3_ENST00000543198.1_Missense_Mutation_p.L158I|RP11-517I3.1_ENST00000515808.1_RNA NM_023927.2 NP_076416.2 Q96HH9 GRAM3_HUMAN GRAM domain containing 3 181 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108) AACTGCTCTTCTAGTGCCAAA 0.478000 21 68 3.28513e-13 3.73496e-13 1 1 0 C16orf11 146325 broad.mit.edu 37 16 613542 613542 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:613542C>T ENST00000409413.3 + 2 527 c.248C>T c.(247-249)cCt>cTt p.P83L NM_145270.2 NP_660313.1 P0CG20 CP011_HUMAN chromosome 16 open reading frame 11 83 Pro-rich. central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 TCCACCACGCCTAGGCCCCAC 0.692000 4 23 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65907091 65907091 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:65907091C>A ENST00000321892.4 + 13 3530 c.3469C>A c.(3469-3471)Cag>Aag p.Q1157K BPTF_ENST00000335221.5_Missense_Mutation_p.Q1157K|BPTF_ENST00000306378.6_Missense_Mutation_p.Q1031K|BPTF_ENST00000424123.3_Missense_Mutation_p.Q1018K Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1157 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TGTAAATTGTCAGGAGAGTTC 0.383000 9 62 0.000274275 0.000286837 1 1 0 PROS1 5627 broad.mit.edu 37 3 93611862 93611862 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:93611862C>A ENST00000394236.3 - 10 1386 c.1070G>T c.(1069-1071)gGa>gTa p.G357V PROS1_ENST00000407433.1_Missense_Mutation_p.G226V NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 357 Laminin G-like 1. G -> R (in PROS1D). leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TTCAATCTTTCCACCACGAAG 0.403000 7 66 0.00198382 0.00205119 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113353795 113353795 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr8:113353795G>C ENST00000297405.5 - 42 6807 c.6563C>G c.(6562-6564)tCt>tGt p.S2188C CSMD3_ENST00000343508.3_Missense_Mutation_p.S2148C|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2118C|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2084C NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2188 CUB 12. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GAATAAGGAAGATGGTATTTG 0.368000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 20 87 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31572693 31572693 + Missense_Mutation SNP C C T rs138396004 TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:31572693C>T ENST00000379416.3 - 26 2876 c.2828G>A c.(2827-2829)cGg>cAg p.R943Q NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 943 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GTTTTTTCTCCGCACCTTCCC 0.542000 4 54 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139163874 139163874 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr8:139163874C>A ENST00000395297.1 - 13 3014 c.2844G>T c.(2842-2844)agG>agT p.R948S NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 948 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) CTGTTGAGTTCCTGTTGATGG 0.488000 HNSCC(54;0.14) 29 114 1.75199e-13 2.00018e-13 1 1 0 USP28 57646 broad.mit.edu 37 11 113683113 113683113 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:113683113G>A ENST00000003302.4 - 16 1925 c.1857C>T c.(1855-1857)atC>atT p.I619I USP28_ENST00000545540.1_Silent_p.I494I|USP28_ENST00000260188.5_Silent_p.I619I|USP28_ENST00000544967.1_Silent_p.I327I NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 619 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) CAGTAACAGAGATGTCATTGT 0.418000 10 77 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49074365 49074365 + Missense_Mutation SNP T T C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr15:49074365T>C ENST00000380950.2 - 11 1571 c.1384A>G c.(1384-1386)Atg>Gtg p.M462V CEP152_ENST00000399334.3_Missense_Mutation_p.M462V|CEP152_ENST00000325747.5_Missense_Mutation_p.M369V NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 462 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TTTGCACTCATAGCATGTGCC 0.443000 10 61 0 0 1 0 0 AMIGO3 386724 broad.mit.edu 37 3 49756494 49756494 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:49756494C>T ENST00000535833.1 - 10 3855 c.405G>A c.(403-405)ctG>ctA p.L135L RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Silent_p.L135L|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000497099.1_Intron|RNF123_ENST00000433785.1_Intron Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 135 heterophilic cell-cell adhesion integral to membrane endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCAGCTTCTCCAGCGCCCCCA 0.637000 OREG0015572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 85 0 0 1 0 0 PJA1 64219 broad.mit.edu 37 X 68381656 68381656 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chrX:68381656C>T ENST00000361478.1 - 2 1803 c.1426G>A c.(1426-1428)Gat>Aat p.D476N PJA1_ENST00000374584.3_Missense_Mutation_p.D288N|PJA1_ENST00000374571.4_Missense_Mutation_p.D421N|PJA1_ENST00000374583.1_Missense_Mutation_p.D476N NM_001032396.2|NM_022368.4|NM_145119.3 NP_001027568.1|NP_071763.2|NP_660095.1 Q8NG27 PJA1_HUMAN praja ring finger 1, E3 ubiquitin protein ligase 476 zinc ion binding endometrium(3)|large_intestine(5)|lung(12)|ovary(1) 21 GAATCATTATCCCCCTCACTG 0.478000 4 115 0 0 1 0 0 EPS8 2059 broad.mit.edu 37 12 15815014 15815014 + Silent SNP A A G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:15815014A>G ENST00000281172.5 - 9 1192 c.756T>C c.(754-756)taT>taC p.Y252Y EPS8_ENST00000543612.1_Silent_p.Y252Y|EPS8_ENST00000543523.1_Silent_p.Y252Y|EPS8_ENST00000540613.1_5'UTR|EPS8_ENST00000542903.1_5'UTR NM_004447.5 NP_004438.3 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway substrate 8 252 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) CCTGCTCATGATACTGCCTTG 0.383000 3 136 0 0 1 0 0 ZIK1 284307 broad.mit.edu 37 19 58101415 58101415 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr19:58101415C>T ENST00000597850.1 + 4 451 c.236C>T c.(235-237)tCt>tTt p.S79F ZIK1_ENST00000307468.4_Silent_p.L24L|ZIK1_ENST00000536878.2_Missense_Mutation_p.S66F|ZIK1_ENST00000599456.1_Missense_Mutation_p.S24F NM_001010879.2 NP_001010879.2 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 1 79 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GAGACACCTTCTGACCAGAAT 0.458000 8 45 0 0 1 0 0 ZFPL1 7542 broad.mit.edu 37 11 64855481 64855481 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:64855481C>T ENST00000294258.3 + 8 980 c.828C>T c.(826-828)ttC>ttT p.F276F NM_006782.3 NP_006773.2 O95159 ZFPL1_HUMAN zinc finger protein-like 1 276 regulation of transcription, DNA-dependent|vesicle-mediated transport Golgi apparatus|integral to membrane|nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 TGCTGGGCTTCCTGGCCCTCC 0.687000 7 101 0 0 1 0 0 USP15 9958 broad.mit.edu 37 12 62798096 62798096 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:62798096G>A ENST00000280377.5 + 22 2945 c.2887G>A c.(2887-2889)Gaa>Aaa p.E963K USP15_ENST00000393654.3_Missense_Mutation_p.E938K|USP15_ENST00000353364.3_Missense_Mutation_p.E934K NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 963 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) AGAAAGTGATGAAGATAGCAA 0.403000 14 46 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32745308 32745308 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr13:32745308G>A ENST00000380250.3 + 18 2548 c.2052G>A c.(2050-2052)tcG>tcA p.S684S NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 684 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TCCTTGATTCGTCCCTGAAGT 0.443000 30 51 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34166245 34166245 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:34166245C>T ENST00000373381.4 - 23 3781 c.3605G>A c.(3604-3606)cGt>cAt p.R1202H CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.R75H NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1162 CUB 7. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TCCCAGCAAACGGGCGGAGTT 0.498000 20 52 0 0 1 0 0 ATP2A1 487 broad.mit.edu 37 16 28913966 28913966 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:28913966C>G ENST00000395503.4 + 18 2774 c.2590C>G c.(2590-2592)Cat>Gat p.H864D ATP2A1_ENST00000536376.1_Missense_Mutation_p.H739D|ATP2A1_ENST00000357084.3_Missense_Mutation_p.H864D NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 864 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 GGATGGGCCTCATGTCAACTA 0.652000 14 54 0 0 1 0 0 KRT2 3849 broad.mit.edu 37 12 53044194 53044194 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:53044194G>A ENST00000309680.3 - 2 750 c.729C>T c.(727-729)ctC>ctT p.L243L NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 243 Coil 1B.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton p.L243L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) TTTCTGCAGTGAGCCCATCCA 0.488000 47 177 0 0 1 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140782853 140782853 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:140782853G>C ENST00000573521.1 + 1 334 c.334G>C c.(334-336)Gac>Cac p.D112H PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGGTTGAAGACAGAGTGAA 0.507000 18 59 0 0 1 0 0 NOL3 8996 broad.mit.edu 37 16 67208978 67208978 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:67208978G>A ENST00000568146.1 + 4 691 c.638G>A c.(637-639)cGg>cAg p.R213Q NOL3_ENST00000432069.2_3'UTR|NOL3_ENST00000564053.1_3'UTR|NOL3_ENST00000268605.7_3'UTR O60936 NOL3_HUMAN nucleolar protein 3 (apoptosis repressor with CARD domain) 213 anti-apoptosis|apoptosis|mRNA processing|RNA splicing cytosol|nucleolus identical protein binding|RNA binding ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) TCTGACAGGCGGTGCCCCGCC 0.612000 31 162 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 108006588 108006588 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:108006588G>A ENST00000280758.5 + 6 2369 c.1841G>A c.(1840-1842)cGt>cAt p.R614H BTBD11_ENST00000420571.2_Missense_Mutation_p.R614H|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Missense_Mutation_p.R151H|BTBD11_ENST00000490090.2_Missense_Mutation_p.R614H NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 614 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 GCCTGCGTCCGTGGGGACGAG 0.577000 7 41 0 0 1 0 0 SLC25A1 6576 broad.mit.edu 37 22 19164697 19164697 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr22:19164697C>G ENST00000215882.5 - 5 618 c.462G>C c.(460-462)caG>caC p.Q154H SLC25A1_ENST00000461267.1_5'UTR|SLC25A1_ENST00000451283.1_Missense_Mutation_p.Q51H NM_005984.3 NP_005975.1 P53007 TXTP_HUMAN solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 154 gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process integral to membrane|mitochondrial inner membrane citrate transmembrane transporter activity|protein binding cervix(1)|lung(1) 2 Colorectal(54;0.0993) all_lung(157;9.94e-09) Lung(27;0.124) TTGGGGAGGTCTGGTCGTGGA 0.602000 12 33 0 0 1 0 0 ZNF214 7761 broad.mit.edu 37 11 7022459 7022459 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:7022459C>G ENST00000278314.4 - 3 770 c.455G>C c.(454-456)aGa>aCa p.R152T ZNF214_ENST00000536068.1_Missense_Mutation_p.R152T NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 152 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) GTAGATTTCTCTACCATAGTC 0.378000 12 74 0 0 1 0 0 OR8B8 26493 broad.mit.edu 37 11 124310774 124310774 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:124310774C>A ENST00000328064.2 - 1 280 c.208G>T c.(208-210)Gat>Tat p.D70Y NM_012378.1 NP_036510.1 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, member 8 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TAGCAGAAATCTATGAAGGAC 0.453000 5 56 0.000602214 0.000627402 1 1 0 SPTBN2 6712 broad.mit.edu 37 11 66453742 66453742 + Nonsense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:66453742G>A ENST00000529997.1 - 35 7065 c.7066C>T c.(7066-7068)Cga>Tga p.R2356* SPTBN2_ENST00000533211.1_Intron|SPTBN2_ENST00000309996.2_Intron O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 0 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 TGCGGCCGTCGCACACATCCA 0.552000 5 37 0 0 1 0 0 NCR2 9436 broad.mit.edu 37 6 41304071 41304071 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:41304071G>C ENST00000373083.4 + 2 521 c.299G>C c.(298-300)aGa>aCa p.R100T NCR2_ENST00000373089.5_Missense_Mutation_p.R100T|NCR2_ENST00000373086.3_Missense_Mutation_p.R100T NM_001199510.1 NP_001186439.1 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 100 Ig-like. cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) ACTGATCTGAGAGAGGAAGAC 0.517000 3 72 0 0 1 0 0 CYP39A1 51302 broad.mit.edu 37 6 46607298 46607298 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:46607298C>T ENST00000275016.2 - 3 624 c.421G>A c.(421-423)Gaa>Aaa p.E141K NM_016593.3 NP_057677.2 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, polypeptide 1 141 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity EIF3K/CYP39A1(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2) 21 TGTAATTCTTCAGTCAGTTGC 0.378000 7 75 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121980624 121980624 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:121980624G>A ENST00000498619.1 + 4 1180 c.742G>A c.(742-744)Gat>Aat p.D248N CASR_ENST00000490131.1_Missense_Mutation_p.D248N|CASR_ENST00000296154.5_Missense_Mutation_p.D248N NM_001178065.1 NP_001171536 P41180 CASR_HUMAN calcium-sensing receptor 248 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CCAGTACTCTGATGAGGAAGA 0.502000 5 207 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36195235 36195235 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr4:36195235C>A ENST00000303965.4 - 7 2011 c.1522G>T c.(1522-1524)Gat>Tat p.D508Y NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 508 PH 1. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 CTAAGGCCATCAAATTTCACC 0.279000 5 25 2.7689e-08 3.02262e-08 1 1 0 ZDHHC5 25921 broad.mit.edu 37 11 57457644 57457644 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:57457644G>A ENST00000287169.3 + 5 1888 c.526G>A c.(526-528)Gag>Aag p.E176K ZDHHC5_ENST00000527985.1_Missense_Mutation_p.E123K NM_015457.2 NP_056272.2 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC-type containing 5 176 integral to membrane acyltransferase activity|zinc ion binding endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1) 18 CTACCACATAGAGGAACTCTC 0.502000 6 75 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47851509 47851509 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr21:47851509G>A ENST00000359568.5 + 38 8238 c.8131G>A c.(8131-8133)Gag>Aag p.E2711K PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2711 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) ACTGAAACACGAGCAGACGGC 0.597000 12 55 0 0 1 0 0 UGT3A2 167127 broad.mit.edu 37 5 36049133 36049133 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:36049133C>G ENST00000282507.3 - 4 802 c.701G>C c.(700-702)aGg>aCg p.R234T UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.R200T|UGT3A2_ENST00000545528.1_Intron NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 234 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CAAAACTGGCCTAGAGCCTTC 0.418000 22 83 0 0 1 0 0 GGTLC1 92086 broad.mit.edu 37 20 23966391 23966391 + Silent SNP G G T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr20:23966391G>T ENST00000335694.4 - 5 648 c.444C>A c.(442-444)ggC>ggA p.G148G GGTLC1_ENST00000278765.4_Silent_p.G148G|GGTLC1_ENST00000286890.4_Silent_p.G148G NM_178311.2 NP_842563.1 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 148 gamma-glutamyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 TCACGTCATAGCCGAACCAGA 0.612000 55 129 4.45325e-31 5.12686e-31 1 1 0 AARS 16 broad.mit.edu 37 16 70299548 70299548 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:70299548G>A ENST00000261772.8 - 10 1383 c.1240C>T c.(1240-1242)Ctc>Ttc p.L414F NM_001605.2 NP_001596.2 P49588 SYAC_HUMAN alanyl-tRNA synthetase 414 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) GTGTCATAGAGGAGCCAAGCA 0.507000 11 21 0 0 1 0 0 WNT7A 7476 broad.mit.edu 37 3 13916516 13916516 + Nonsense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:13916516G>A ENST00000285018.4 - 2 530 c.226C>T c.(226-228)Cag>Tag p.Q76* WNT7A_ENST00000497808.1_5'UTR NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 76 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 TTGCGGAACTGAAACTGACAC 0.617000 9 59 0 0 1 0 0 SUZ12 23512 broad.mit.edu 37 17 30315444 30315444 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:30315444C>T ENST00000322652.5 + 10 1358 c.1129C>T c.(1129-1131)Ctt>Ttt p.L377F SUZ12_ENST00000580398.1_Missense_Mutation_p.L354F NM_015355.2 NP_056170.2 Q15022 SUZ12_HUMAN SUZ12 polycomb repressive complex 2 subunit 377 negative regulation of cell differentiation|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|methylated histone residue binding|zinc ion binding SSH2/SUZ12(2)|JAZF1/SUZ12(133) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1) 21 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231) TGCCAAACCTCTTGCCACTAG 0.413000 T JAZF1 endometrial stromal tumours 8 41 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183442274 183442274 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:183442274C>T ENST00000305135.5 + 6 800 c.605C>T c.(604-606)tCa>tTa p.S202L NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 202 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GATGAGACTTCACGACTTTTT 0.343000 6 39 0 0 1 0 0 GRIP1 23426 broad.mit.edu 37 12 66770815 66770815 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:66770815C>T ENST00000359742.4 - 22 3000 c.2760G>A c.(2758-2760)ttG>ttA p.L920L GRIP1_ENST00000398016.3_Silent_p.L868L|GRIP1_ENST00000286445.7_Intron Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 920 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) TCATGTTTCTCAAAGACACAC 0.393000 15 95 0 0 1 0 0 ZNF233 353355 broad.mit.edu 37 19 44778580 44778580 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr19:44778580G>C ENST00000391958.2 + 5 1894 c.1767G>C c.(1765-1767)gaG>gaC p.E589D ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.E571D|ZNF233_ENST00000592581.1_3'UTR NM_181756.2 NP_861421.2 A6NK53 ZN233_HUMAN zinc finger protein 233 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E589E(1) breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) ACACAGGAGAGAAACCATACA 0.438000 3 103 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2088542 2088542 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr9:2088542C>A ENST00000382203.1 + 19 3021 c.2812C>A c.(2812-2814)Cta>Ata p.L938I SMARCA2_ENST00000349721.2_Missense_Mutation_p.L938I|SMARCA2_ENST00000382194.1_Missense_Mutation_p.L938I|SMARCA2_ENST00000357248.2_Missense_Mutation_p.L938I P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 938 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CATCAGGCGTCTACATAAGGT 0.343000 9 78 9.70103e-10 1.07615e-09 1 1 0 ATAD2 29028 broad.mit.edu 37 8 124383930 124383930 + Silent SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr8:124383930C>A ENST00000287394.5 - 4 623 c.516G>T c.(514-516)ctG>ctT p.L172L ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GTTTGTCAAACAGCATGGACT 0.363000 7 48 1.76689e-08 1.93652e-08 1 1 0 TUBA3E 112714 broad.mit.edu 37 2 130951802 130951802 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:130951802C>T ENST00000312988.7 - 4 713 c.613G>A c.(613-615)Gac>Aac p.D205N NM_207312.2 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 205 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2) 28 Colorectal(110;0.1) GCTTCATTGTCGACCATGAAG 0.552000 9 62 0 0 1 0 0 WDR45 11152 broad.mit.edu 37 X 48933234 48933234 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chrX:48933234C>A ENST00000356463.3 - 9 1136 c.698G>T c.(697-699)cGc>cTc p.R233L WDR45_ENST00000485908.1_Missense_Mutation_p.R197L|AF196779.12_ENST00000376358.3_Missense_Mutation_p.R130L|WDR45_ENST00000376372.3_Missense_Mutation_p.R232L|WDR45_ENST00000322995.8_Missense_Mutation_p.R243L|WDR45_ENST00000553851.1_Missense_Mutation_p.R130L|WDR45_ENST00000376368.2_Missense_Mutation_p.R233L|WDR45_ENST00000396681.4_Missense_Mutation_p.R232L|WDR45_ENST00000473974.1_Missense_Mutation_p.R232L NM_007075.3 NP_009006.2 Q9Y484 WIPI4_HUMAN WD repeat domain 45 232 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 19 AGTGCCTCGGCGCAGCTCCAC 0.567000 7 17 0.00448238 0.0045999 1 1 0 AMIGO3 386724 broad.mit.edu 37 3 49756011 49756011 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr3:49756011C>T ENST00000535833.1 - 10 4338 c.888G>A c.(886-888)ctG>ctA p.L296L RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Silent_p.L296L|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000433785.1_Intron Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 296 Ig-like C2-type. heterophilic cell-cell adhesion integral to membrane endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AGTAAAGCCTCAGGGACCGAC 0.652000 5 22 0 0 1 0 0 ZC3H18 124245 broad.mit.edu 37 16 88694357 88694357 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:88694357G>C ENST00000301011.5 + 15 2499 c.2299G>C c.(2299-2301)Gag>Cag p.E767Q ZC3H18_ENST00000452588.2_Missense_Mutation_p.E791Q NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 767 nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) CGGTGTTAAAGAGGAAAAGCG 0.522000 13 75 0 0 1 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49285034 49285034 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr15:49285034C>T ENST00000559471.1 - 18 2976 c.2713G>A c.(2713-2715)Gaa>Aaa p.E905K SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E860K NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 905 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 CTGGGTTTTTCAGAAGTGCTG 0.433000 27 95 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169512142 169512142 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:169512142C>G ENST00000367796.3 - 13 2402 c.2201G>C c.(2200-2202)aGa>aCa p.R734T F5_ENST00000367797.3_Missense_Mutation_p.R729T P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 729 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TGCAGCCAGTCTGTTCTGGTA 0.433000 34 182 0 0 1 0 0 CALML3 810 broad.mit.edu 37 10 5567418 5567418 + Missense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:5567418G>A ENST00000315238.1 + 1 495 c.370G>A c.(370-372)Gag>Aag p.E124K RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA NM_005185.2 NP_005176.1 P27482 CALL3_HUMAN calmodulin-like 3 124 EF-hand 4. calcium ion binding endometrium(3)|lung(2) 5 GGAGGTGGACGAGATGATCCG 0.657000 10 32 0 0 1 0 0 TELO2 9894 broad.mit.edu 37 16 1552951 1552951 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:1552951C>T ENST00000262319.6 + 15 2069 c.1790C>T c.(1789-1791)tCa>tTa p.S597L TELO2_ENST00000564507.1_3'UTR NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 597 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) TATCTGACCTCACAGTTCTAT 0.657000 12 137 0 0 1 0 0 MAPK3 5595 broad.mit.edu 37 16 30129483 30129483 + Splice_Site SNP A A T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:30129483A>T ENST00000484663.1 - 3 1336 c.203T>A c.(202-204)aTt>aAt p.I68N MAPK3_ENST00000395202.1_Splice_Site_p.I182N|MAPK3_ENST00000395200.1_Intron|MAPK3_ENST00000322266.5_Splice_Site_p.I182N|MAPK3_ENST00000263025.4_Splice_Site_p.I182N|MAPK3_ENST00000403394.1_Splice_Site_p.I182N|MAPK3_ENST00000395199.3_Splice_Site_p.I182N P27361 MK03_HUMAN mitogen-activated protein kinase 3 182 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding 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|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) GAAATCACAAATCTGGAATCA 0.592000 5 38 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8617036 8617036 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr19:8617036C>G ENST00000338257.8 - 7 784 c.517G>C c.(517-519)Gag>Cag p.E173Q NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 173 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 AACTGGATCTCAAAGTACTTG 0.557000 7 125 0 0 1 0 0 RBPJL 11317 broad.mit.edu 37 20 43940280 43940280 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr20:43940280G>A ENST00000343694.3 + 4 381 c.309G>A c.(307-309)gtG>gtA p.V103V RBPJL_ENST00000372743.1_Silent_p.V103V|RBPJL_ENST00000372741.3_Silent_p.V103V NM_001281448.1|NM_001281449.1|NM_014276.2 NP_001268377.1|NP_001268378.1|NP_055091.2 Q9UBG7 RBPJL_HUMAN recombination signal binding protein for immunoglobulin kappa J region-like 103 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Myeloproliferative disorder(115;0.0122) GCTGGAGGGTGAAGCCAGGGC 0.642000 OREG0025979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 37 0 0 1 0 0 BRD1 23774 broad.mit.edu 37 22 50192221 50192221 + Splice_Site SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr22:50192221G>A ENST00000542442.1 - 5 915 c.849C>T c.(847-849)ccC>ccT p.P283P BRD1_ENST00000404034.1_Silent_p.P590P|BRD1_ENST00000457780.2_Silent_p.P590P|BRD1_ENST00000216267.8_Silent_p.P590P|BRD1_ENST00000404760.1_Silent_p.P590P|BRD1_ENST00000342989.5_Silent_p.P185P O95696 BRD1_HUMAN bromodomain containing 1 590 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) TCAGACTCACGGGCTGCGCAA 0.622000 14 70 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47851760 47851760 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr21:47851760G>A ENST00000359568.5 + 38 8489 c.8382G>A c.(8380-8382)ctG>ctA p.L2794L PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2794 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TGCAGAAGCTGAAGGAGGAGA 0.612000 7 35 0 0 1 0 0 TICRR 90381 broad.mit.edu 37 15 90119305 90119305 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr15:90119305C>T ENST00000268138.7 + 1 593 c.488C>T c.(487-489)tCg>tTg p.S163L RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.S163L TOPBP1-interacting checkpoint and replication regulator TGTCCGCACTCGCAGAGGGAG 0.682000 3 23 0 0 1 0 0 OLFML1 283298 broad.mit.edu 37 11 7531263 7531263 + Silent SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:7531263C>T ENST00000329293.3 + 3 1447 c.1053C>T c.(1051-1053)atC>atT p.I351I CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Silent_p.I351I|OLFML1_ENST00000528758.1_3'UTR NM_198474.3 NP_940876.2 Q6UWY5 OLFL1_HUMAN olfactomedin-like 1 351 Olfactomedin-like. extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2) 24 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) TGGGCACTATCAGTGAGGAGG 0.517000 9 77 0 0 1 0 0 SOX5 6660 broad.mit.edu 37 12 24048864 24048864 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:24048864C>A ENST00000546136.1 - 1 96 c.94G>T c.(94-96)Gac>Tac p.D32Y SOX5_ENST00000545921.1_Missense_Mutation_p.D35Y|SOX5_ENST00000309359.1_Missense_Mutation_p.D32Y|SOX5_ENST00000381381.2_Missense_Mutation_p.D32Y|SOX5_ENST00000441133.2_Missense_Mutation_p.D45Y|SOX5_ENST00000451604.2_Missense_Mutation_p.D45Y|SOX5_ENST00000541536.1_Missense_Mutation_p.D32Y|SOX5_ENST00000541847.1_Missense_Mutation_p.D35Y|SOX5_ENST00000537393.1_Missense_Mutation_p.D45Y P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 45 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 GGGAGCCCGTCACTCTCCTCT 0.527000 35 183 1.04594e-18 1.19911e-18 1 1 0 COL5A2 1290 broad.mit.edu 37 2 189909924 189909924 + Missense_Mutation SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:189909924G>C ENST00000374866.3 - 47 3618 c.3344C>G c.(3343-3345)gCt>gGt p.A1115G NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 1115 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) ACGTTTCCCAGCTCGACCAGG 0.299000 5 27 0 0 1 0 0 SHISA3 152573 broad.mit.edu 37 4 42403249 42403249 + Silent SNP G G C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr4:42403249G>C ENST00000319234.4 + 2 716 c.498G>C c.(496-498)acG>acC p.T166T NM_001080505.1 NP_001073974.1 A0PJX4 SHSA3_HUMAN shisa family member 3 166 multicellular organismal development endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 12 GCACAGCCACGAGCTCCAGCT 0.672000 16 116 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43485074 43485074 + Missense_Mutation SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr7:43485074C>A ENST00000395891.2 + 11 2908 c.2303C>A c.(2302-2304)cCg>cAg p.P768Q HECW1_ENST00000453890.1_Missense_Mutation_p.P768Q NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GGCGCTGGGCCGTGGCAAGAC 0.647000 3 21 1 1 1 1 0 ANO1 55107 broad.mit.edu 37 11 70003070 70003070 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:70003070G>A ENST00000355303.5 + 16 1826 c.1521G>A c.(1519-1521)ctG>ctA p.L507L ANO1_ENST00000530676.1_Silent_p.L361L|ANO1_ENST00000398543.2_Silent_p.L361L|ANO1_ENST00000316296.5_Silent_p.L449L|ANO1_ENST00000531349.1_Silent_p.L216L|ANO1_ENST00000538023.1_Silent_p.L507L NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 507 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 AAGTGAAGCTGACATGGAGAG 0.502000 4 17 0 0 1 0 0 ADRM1 11047 broad.mit.edu 37 20 60878630 60878630 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr20:60878630G>A ENST00000253003.2 + 2 52 c.6G>A c.(4-6)acG>acA p.T2T ADRM1_ENST00000462554.1_3'UTR NM_007002.2|NM_175573.1 NP_008933.2|NP_783163.1 Q16186 ADRM1_HUMAN adhesion regulating molecule 1 2 Interaction with PSMD1. proteasome assembly|transcription elongation from RNA polymerase II promoter cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex endopeptidase activator activity|protease binding|proteasome binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1) 5 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;2.51e-06) TCAGGATGACGACCTCAGGCG 0.667000 9 108 0 0 1 0 0 CCDC147 159686 broad.mit.edu 37 10 106214254 106214254 + Missense_Mutation SNP G G T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr10:106214254G>T ENST00000369704.3 + 18 2719 c.2585G>T c.(2584-2586)gGa>gTa p.G862V NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 862 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) ACTGGGGGCGGATTTCCTCTC 0.463000 19 102 1.56452e-12 1.7714e-12 1 1 0 FOXF2 2295 broad.mit.edu 37 6 1390560 1390560 + Silent SNP C C A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:1390560C>A ENST00000259806.1 + 1 492 c.378C>A c.(376-378)atC>atA p.I126I NM_001452.1 NP_001443.1 Q12947 FOXF2_HUMAN forkhead box F2 126 epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding large_intestine(2)|lung(5)|prostate(1) 8 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) TCAGCGAGATCTACCAGTTCC 0.647000 8 28 5.18039e-06 5.5883e-06 1 1 0 BTN3A3 10384 broad.mit.edu 37 6 26443857 26443857 + Missense_Mutation SNP T T C TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr6:26443857T>C ENST00000244519.2 + 3 298 c.55T>C c.(55-57)Ttc>Ctc p.F19L BTN3A3_ENST00000339789.4_Intron|BTN3A3_ENST00000361232.3_Intron NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 19 integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 TGTCTCCCTCTTCTTGGTCCA 0.428000 5 52 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63173909 63173909 + Silent SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:63173909C>G ENST00000449996.3 + 9 714 c.642C>G c.(640-642)gtC>gtG p.V214V RGS9_ENST00000262406.9_Silent_p.V214V|RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000443584.3_Silent_p.V214V NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 214 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 CGAATGAAGTCAAGGTAAACC 0.493000 33 130 0 0 1 0 0 AMBRA1 55626 broad.mit.edu 37 11 46567257 46567257 + Nonsense_Mutation SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr11:46567257G>A ENST00000458649.2 - 5 866 c.448C>T c.(448-450)Cag>Tag p.Q150* AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.Q150*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.Q150*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.Q150*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.Q150*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.Q150*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.Q150* Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 150 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) AGCAGGAGCTGAGCCGTAGGG 0.527000 13 57 0 0 1 0 0 ATP2B1 490 broad.mit.edu 37 12 90036059 90036059 + Missense_Mutation SNP C C G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:90036059C>G ENST00000428670.3 - 3 738 c.282G>C c.(280-282)aaG>aaC p.K94N ATP2B1_ENST00000261173.2_Missense_Mutation_p.K94N|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K94N|ATP2B1_ENST00000348959.3_Missense_Mutation_p.K94N P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 94 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 AGGTTTTTGGCTTTTTAGGAG 0.318000 41 241 0 0 1 0 0 RIT1 6016 broad.mit.edu 37 1 155874559 155874561 + In_Frame_Del DEL TCA TCA - TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr1:155874559_155874561delTCA ENST00000368323.3 - 4 402_404 c.198_200delTGA c.(196-201)gatgag>gag p.D66del RIT1_ENST00000368322.3_In_Frame_Del_p.D83del|RIT1_ENST00000539040.1_In_Frame_Del_p.D30del NM_006912.5 NP_008843.1 Q92963 RIT1_HUMAN Ras-like without CAAX 1 66 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1) 19 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;1.79e-05) ATTGGCAGGCTCATCATCAATAC 0.409 11 100 --- --- --- --- RBM43 375287 broad.mit.edu 37 2 152108088 152108088 + Frame_Shift_Del DEL T T - TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:152108088delT ENST00000331426.5 - 4 557 c.406delA c.(406-408)atcfs p.I136fs NM_198557.2 NP_940959.1 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 136 nucleotide binding|RNA binding p.I136fs*4(1) endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.131) AAACTCGGGATTTTTTTTTTC 0.388 7 103 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179650463 179650470 + Splice_Site DEL TCTTGATC TCTTGATC - TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr2:179650463_179650470delTCTTGATC ENST00000589042.1 - 15 2595_2601 c.2371_2377delGATCAAGA c.(2371-2379)gatcaagaa>aa p.DQE791fs TTN_ENST00000342175.6_Splice_Site_p.DQE745fs|TTN_ENST00000342992.6_Splice_Site_p.DQE791fs|TTN_ENST00000591111.1_Splice_Site_p.DQE791fs|TTN_ENST00000360870.5_Splice_Site_p.DQE791fs|TTN_ENST00000460472.2_Splice_Site_p.DQE745fs|TTN_ENST00000359218.5_Splice_Site_p.DQE745fs NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 791 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) TCTGTAGTTTTCTTGATCTGCATTGAAA 0.418 11 81 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187557747 187557747 + Frame_Shift_Del DEL T T - TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr4:187557747delT ENST00000441802.2 - 5 4173 c.3964delA c.(3964-3966)attfs p.I1322fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1322 Cadherin 11. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ACTGAAAGAATATCATATTCT 0.338 HNSCC(5;0.00058) 14 300 --- --- --- --- RHOBTB3 22836 broad.mit.edu 37 5 95116086 95116086 + Frame_Shift_Del DEL C C - TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr5:95116086delC ENST00000379982.3 + 9 1921 c.1413delC c.(1411-1413)ttcfs p.F471fs GLRX_ENST00000508780.1_Intron|RHOBTB3_ENST00000504179.1_Frame_Shift_Del_p.F102fs NM_014899.3 NP_055714.3 O94955 RHBT3_HUMAN Rho-related BTB domain containing 3 471 BTB 2.|Interaction with Rab9. retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1) 16 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) AAGAGACTTTCTTGTCATTTT 0.418 20 73 --- --- --- --- WNK1 65125 broad.mit.edu 37 12 970296 970297 + Frame_Shift_Ins INS - - A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:970296_970297insA ENST00000537687.1 + 7 2381_2382 c.1738_1739insA c.(1738-1740)gaafs p.E580fs WNK1_ENST00000535572.1_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000315939.6_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000530271.2_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000340908.4_Frame_Shift_Ins_p.E173fs NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 580 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity p.?(1) breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GGAGGAGCAAGAAAAAAAAAAG 0.470 7 96 --- --- --- --- DUSP6 1848 broad.mit.edu 37 12 89744602 89744603 + Frame_Shift_Ins INS - - G TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:89744602_89744603insG ENST00000279488.7 - 2 1831_1832 c.600_601insC c.(598-603)tccaacfs p.N201fs DUSP6_ENST00000547140.1_5'UTR|DUSP6_ENST00000308385.6_Intron|DUSP6_ENST00000547291.1_Frame_Shift_Ins_p.N76fs NM_001946.2 NP_001937.2 Q16828 DUS6_HUMAN dual specificity phosphatase 6 201 dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(5)|lung(8)|skin(2)|urinary_tract(1) 16 GGCTGGCTGTTGGACAGCGGAC 0.564 19 138 --- --- --- --- UTP20 27340 broad.mit.edu 37 12 101680157 101680157 + Frame_Shift_Del DEL T T - TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr12:101680157delT ENST00000261637.4 + 5 559 c.385delT c.(385-387)tttfs p.F130fs NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 130 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 CTTTCCAGAGTTTTTTTTGAC 0.398 8 241 --- --- --- --- IGHV3-48 28424 broad.mit.edu 37 14 106993939 106993941 + RNA DEL TAC TAC - TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr14:106993939_106993941delTAC ENST00000390624.2 - 0 302_304 TAGTATATGGTACTACTACTACT 0.502 8 350 --- --- --- --- LOC102723841 102723841 broad.mit.edu 37 16 33365420 33365420 + RNA DEL A A - TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:33365420delA ENST00000568520.1 - 0 249 TACAAACTATAAAAAAACAGA 0.358 3 3 --- --- --- --- IRX6 79190 broad.mit.edu 37 16 55362674 55362676 + In_Frame_Del DEL GAG GAG - TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:55362674_55362676delGAG ENST00000290552.7 + 5 2116_2118 c.784_786delGAG c.(784-786)gagdel p.E268del RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 268 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCTggaggaagaggaggaggagg 0.626 7 71 --- --- --- --- RP11-863P13.2 0 broad.mit.edu 37 16 88226895 88226897 + RNA DEL TGG TGG - rs62047004 TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr16:88226895_88226897delTGG ENST00000568587.1 - 0 91 gtggtggagatggtggtggtggg 0.537 4 5 --- --- --- --- LINC00469 283982 broad.mit.edu 37 17 71754148 71754151 + RNA DEL CCTT CCTT - TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr17:71754148_71754151delCCTT ENST00000321800.7 - 0 303 ccctcccctcccttcccttcccct 0.569 2 4 --- --- --- --- COL18A1 80781 broad.mit.edu 37 21 46913126 46913126 + Frame_Shift_Del DEL C C - TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx c3da3cc2-2299-4a3e-9de8-7a1d0a10345d a35775c2-b069-4eb4-8b54-631a4d99907d g.chr21:46913126delC ENST00000359759.4 + 24 3530 c.3509delC c.(3508-3510)tccfs p.S1170fs COL18A1_ENST00000459895.1_3'UTR|COL18A1_ENST00000400337.2_Frame_Shift_Del_p.S755fs|COL18A1_ENST00000355480.5_Frame_Shift_Del_p.S935fs P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1170 Triple-helical region 5 (COL5). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GAACGAGGCTCCCCGGGACCC 0.672 2 4 --- --- --- ---