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 IKBKAP 8518 broad.mit.edu 37 9 111658811 111658811 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr9:111658811C>G ENST00000374647.5 - 25 3008 c.2701G>C c.(2701-2703)Gat>Cat p.D901H IKBKAP_ENST00000537196.1_Missense_Mutation_p.D552H NM_003640.3 NP_003631.2 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 901 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 AGGACCAAATCAAAGTCATAG 0.388000 27 8 0 0 1 0 0 BPIFA1 51297 broad.mit.edu 37 20 31830315 31830315 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr20:31830315G>C ENST00000354297.4 + 8 824 c.753G>C c.(751-753)caG>caC p.Q251H BPIFA1_ENST00000375413.4_Missense_Mutation_p.Q251H|BPIFA1_ENST00000375422.2_Missense_Mutation_p.Q251H NM_130852.2 NP_570913.1 Q9NP55 PLUNC_HUMAN BPI fold containing family A, member 1 251 innate immune response extracellular region lipid binding ACGGACTACAGTTTGTCATCA 0.493000 27 47 0 0 1 0 0 ERICH1 157697 broad.mit.edu 37 8 623493 623493 + Nonsense_Mutation SNP C C A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr8:623493C>A ENST00000262109.7 - 4 936 c.859G>T c.(859-861)Gag>Tag p.E287* ERICH1_ENST00000522706.1_Nonsense_Mutation_p.E193* NM_207332.1 NP_997215.1 Q86X53 ERIC1_HUMAN glutamate-rich 1 287 Glu-rich. endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1) 20 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) CCGTCTTCCTCCCCGGCCCGT 0.642000 66 97 1.88737e-50 2.05723e-50 1 1 0 PIK3CA 5290 broad.mit.edu 37 3 178938934 178938934 + Missense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr3:178938934G>A ENST00000263967.3 + 14 2333 c.2176G>A c.(2176-2178)Gaa>Aaa p.E726K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 726 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E726K(8) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAAGAAGGATGAAACACAAAA 0.428000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 22 34 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225698895 225698895 + Missense_Mutation SNP T T C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr2:225698895T>C ENST00000409592.3 - 26 3031 c.2918A>G c.(2917-2919)gAc>gGc p.D973G DOCK10_ENST00000258390.7_Missense_Mutation_p.D979G Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 979 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TGTTGTTGAGTCATTTGATTT 0.408000 18 51 0 0 1 0 0 C1orf63 57035 broad.mit.edu 37 1 25573295 25573295 + Missense_Mutation SNP A A C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr1:25573295A>C ENST00000243189.7 - 2 436 c.160T>G c.(160-162)Tcg>Gcg p.S54A C1orf63_ENST00000431849.2_Missense_Mutation_p.S54A|C1orf63_ENST00000417642.2_Missense_Mutation_p.S47A NM_020317.3 NP_064713.3 Q9BUV0 CA063_HUMAN chromosome 1 open reading frame 63 54 Arg-rich. breast(1)|large_intestine(1)|lung(4)|pancreas(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CTCCTGGACGAAAACCGGCTC 0.672000 39 54 0 0 1 0 0 MST1L 11223 broad.mit.edu 37 1 17083776 17083776 + RNA SNP C C A rs56318124 TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr1:17083776C>A ENST00000455405.2 - 0 812 p.R674L(1) CACAGAGACACGCGTGAAGAC 0.537000 4 13 0.0381472 0.0381472 1 1 0 UBXN6 80700 broad.mit.edu 37 19 4446708 4446708 + Missense_Mutation SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr19:4446708C>T ENST00000301281.6 - 8 833 c.709G>A c.(709-711)Gag>Aag p.E237K UBXN6_ENST00000394765.3_Missense_Mutation_p.E184K NM_025241.2 NP_079517.1 Q9BZV1 UBXN6_HUMAN UBX domain protein 6 237 PUB. microtubule organizing center|nucleus protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 12 TAGAACTCCTCGGGGTCCTCT 0.667000 23 30 0 0 1 0 0 PRDM15 63977 broad.mit.edu 37 21 43230540 43230540 + Missense_Mutation SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr21:43230540C>T ENST00000422911.1 - 22 2894 c.2793G>A c.(2791-2793)atG>atA p.M931I PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.M911I|PRDM15_ENST00000269844.3_Missense_Mutation_p.M1240I|PRDM15_ENST00000447207.2_Missense_Mutation_p.M874I|PRDM15_ENST00000538201.1_Missense_Mutation_p.M894I NM_001282934.1 NP_001269863.1 P57071 PRD15_HUMAN PR domain containing 15 1240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 TGTGTCGGCTCATGGAGGCCC 0.687000 9 23 0 0 1 0 0 ZNF337 26152 broad.mit.edu 37 20 25656702 25656702 + Missense_Mutation SNP C C A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr20:25656702C>A ENST00000376436.1 - 4 1761 c.1222G>T c.(1222-1224)Gat>Tat p.D408Y ZNF337_ENST00000538750.1_Missense_Mutation_p.D376Y|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.D408Y zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CGCTCACAATCCTTGCACACA 0.478000 13 73 4.3838e-07 4.44497e-07 1 1 0 TTN 7273 broad.mit.edu 37 2 179556760 179556760 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr2:179556760G>C ENST00000589042.1 - 121 31969 c.31745C>G c.(31744-31746)cCt>cGt p.P10582R TTN_ENST00000591111.1_Missense_Mutation_p.P10265R|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P9338R|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10265 Glu-rich.|Pro-rich. 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) GGGAGCAGCAGGTTCCTTCTT 0.463000 13 34 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10216024 10216024 + Missense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr17:10216024G>A ENST00000418404.3 - 30 4395 c.4232C>T c.(4231-4233)gCg>gTg p.A1411V RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.A1411V Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1411 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CTTGGAGTTCGCCGTCTCCGT 0.542000 19 11 0 0 1 0 0 PPID 5481 broad.mit.edu 37 4 159640404 159640404 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr4:159640404G>C ENST00000307720.3 - 3 368 c.261C>G c.(259-261)ttC>ttG p.F87L NM_005038.2 NP_005029.1 Q08752 PPID_HUMAN peptidylprolyl isomerase D 87 PPIase cyclophilin-type. protein folding cytoplasm|intermediate filament cytoskeleton cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0159) TCTGATTTGAGAAGTCTCCAC 0.338000 32 9 0 0 1 0 0 LINC00639 283547 broad.mit.edu 37 14 39304899 39304899 + RNA SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr14:39304899C>T ENST00000553932.1 - 0 3663 AGACCACATTCGCCATCAGAG 0.502000 5 14 0 0 1 0 0 EXOC7 23265 broad.mit.edu 37 17 74097785 74097785 + Missense_Mutation SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr17:74097785C>T ENST00000607838.1 - 3 380 c.286G>A c.(286-288)Gac>Aac p.D96N EXOC7_ENST00000335146.7_Missense_Mutation_p.D96N|EXOC7_ENST00000332065.5_Missense_Mutation_p.D96N|EXOC7_ENST00000411744.2_Missense_Mutation_p.D96N|EXOC7_ENST00000406660.3_Missense_Mutation_p.D96N|EXOC7_ENST00000467929.2_Missense_Mutation_p.D55N|EXOC7_ENST00000405575.4_Missense_Mutation_p.D96N|EXOC7_ENST00000589210.1_Missense_Mutation_p.D96N NM_001145297.2|NM_001145298.2|NM_001145299.2 NP_001138769.1|NP_001138770.1|NP_001138771.1 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 96 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 14 LUSC - Lung squamous cell carcinoma(166;0.187) TTCTCAGTGTCACTGGCCACA 0.547000 70 69 0 0 1 0 0 HTR3D 200909 broad.mit.edu 37 3 183756605 183756605 + Missense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr3:183756605G>A ENST00000382489.3 + 8 1207 c.1207G>A c.(1207-1209)Gaa>Aaa p.E403K HTR3D_ENST00000453435.1_Missense_Mutation_p.E182K|HTR3D_ENST00000334128.2_Missense_Mutation_p.E228K|HTR3D_ENST00000428798.2_Missense_Mutation_p.E353K NM_001163646.1 NP_001157118.1 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic 403 integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2) 10 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AGGGGGCTCAGAATGGACAAG 0.632000 17 18 0 0 1 0 0 C9orf41 138199 broad.mit.edu 37 9 77614757 77614757 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr9:77614757G>C ENST00000376834.3 - 4 772 c.620C>G c.(619-621)cCt>cGt p.P207R C9orf41_ENST00000376837.3_Intron NM_152420.1 NP_689633.1 Q8N4J0 CI041_HUMAN chromosome 9 open reading frame 41 207 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2) 17 TCCAGCACCAGGTACCAGAAT 0.373000 43 16 0 0 1 0 0 MAGED1 9500 broad.mit.edu 37 X 51640908 51640908 + Silent SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chrX:51640908G>A ENST00000375695.2 + 8 1905 c.1752G>A c.(1750-1752)ctG>ctA p.L584L MAGED1_ENST00000375772.3_Silent_p.L528L|MAGED1_ENST00000375722.1_Silent_p.L528L|MAGED1_ENST00000326587.7_Silent_p.L528L|MAGED1_ENST00000494718.1_3'UTR NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 528 MAGE. apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) GGATTCAACTGAAAGAAATTG 0.433000 Multiple Myeloma(10;0.10) 15 0 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136700666 136700666 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr7:136700666C>G ENST00000445907.2 + 3 1582 c.1054C>G c.(1054-1056)Cag>Gag p.Q352E hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.Q352E|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.Q352E|CHRM2_ENST00000402486.3_Missense_Mutation_p.Q352E|CHRM2_ENST00000401861.1_Missense_Mutation_p.Q352E|CHRM2_ENST00000453373.1_Missense_Mutation_p.Q352E|hsa-mir-490_ENST00000439694.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 352 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GTCTTCAGGTCAGAATGGAGA 0.463000 14 39 0 0 1 0 0 ITPA 3704 broad.mit.edu 37 20 3193862 3193862 + Silent SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr20:3193862G>A ENST00000380113.3 + 2 306 c.114G>A c.(112-114)caG>caA p.Q38Q ITPA_ENST00000399838.3_Intron|ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000455664.2_Silent_p.Q21Q NM_033453.3|NM_181493.2 NP_258412.1|NP_852470.1 Q9BY32 ITPA_HUMAN inosine triphosphatase (nucleoside triphosphate pyrophosphatase) 38 nucleotide metabolic process cytoplasm metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1) 6 TGGTGGCACAGAAAATTGACC 0.393000 59 125 0 0 1 0 0 CDKN1A 1026 broad.mit.edu 37 6 36652260 36652260 + Missense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr6:36652260G>A ENST00000405375.1 + 2 617 c.382G>A c.(382-384)Gaa>Aaa p.E128K CDKN1A_ENST00000448526.2_Missense_Mutation_p.E162K|CDKN1A_ENST00000373711.2_Missense_Mutation_p.E128K|CDKN1A_ENST00000244741.5_Missense_Mutation_p.E128K|CDKN1A_ENST00000478800.1_3'UTR NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 128 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 GGAGCAGGCTGAAGGGTCCCC 0.612000 14 10 0 0 1 0 0 EXOC7 23265 broad.mit.edu 37 17 74097438 74097438 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr17:74097438C>G ENST00000607838.1 - 4 425 c.331G>C c.(331-333)Gag>Cag p.E111Q EXOC7_ENST00000335146.7_Missense_Mutation_p.E111Q|EXOC7_ENST00000332065.5_Missense_Mutation_p.E111Q|EXOC7_ENST00000411744.2_Missense_Mutation_p.E111Q|EXOC7_ENST00000406660.3_Missense_Mutation_p.E111Q|EXOC7_ENST00000467929.2_Missense_Mutation_p.E70Q|EXOC7_ENST00000405575.4_Missense_Mutation_p.E111Q|EXOC7_ENST00000589210.1_Missense_Mutation_p.E111Q NM_001145297.2|NM_001145298.2|NM_001145299.2 NP_001138769.1|NP_001138770.1|NP_001138771.1 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 111 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 14 LUSC - Lung squamous cell carcinoma(166;0.187) CCCAGGTACTCTTCCAGCCTA 0.527000 60 65 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065434 9065434 + Missense_Mutation SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr19:9065434C>T ENST00000397910.4 - 3 22215 c.22012G>A c.(22012-22014)Gag>Aag p.E7338K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7340 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAGGTACTCTCTGATGTAGAC 0.443000 22 30 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038010 75038010 + Silent SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr1:75038010G>A ENST00000326665.5 - 14 3602 c.3384C>T c.(3382-3384)aaC>aaT p.N1128N C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1128 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CAGGTGCTTCGTTCTCAGCAT 0.463000 33 70 0 0 1 0 0 RC3H1 149041 broad.mit.edu 37 1 173939703 173939703 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr1:173939703C>G ENST00000367696.2 - 9 1625 c.1274G>C c.(1273-1275)aGa>aCa p.R425T RC3H1_ENST00000258349.4_Missense_Mutation_p.R425T|RC3H1_ENST00000367694.2_Missense_Mutation_p.R425T Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 425 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 GCATCCTCCTCTCTGCTTCAT 0.428000 40 81 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189608623 189608623 + Silent SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr3:189608623G>C ENST00000264731.3 + 13 1787 c.1698G>C c.(1696-1698)acG>acC p.T566T TP63_ENST00000320472.5_Intron|TP63_ENST00000392460.3_Intron|TP63_ENST00000449992.1_Silent_p.T387T|TP63_ENST00000392461.3_Intron|TP63_ENST00000440651.2_Silent_p.T562T|TP63_ENST00000382063.4_Silent_p.T481T|TP63_ENST00000392463.2_Intron|TP63_ENST00000354600.5_Silent_p.T472T|TP63_ENST00000456148.1_Silent_p.T468T NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 566 SAM. anti-apoptosis|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ACTATTTCACGACCCAGGGGC 0.433000 HNSCC(45;0.13) 57 76 0 0 1 0 0 LPCAT1 79888 broad.mit.edu 37 5 1466949 1466949 + Silent SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr5:1466949G>C ENST00000283415.3 - 13 1467 c.1335C>G c.(1333-1335)ctC>ctG p.L445L LPCAT1_ENST00000503252.1_5'UTR NM_024830.3 NP_079106.3 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 445 phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) GGGCCGTCTTGAGGATGCAGG 0.622000 23 48 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178938886 178938886 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr3:178938886G>C ENST00000263967.3 + 14 2285 c.2128G>C c.(2128-2130)Gaa>Caa p.E710Q NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 710 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CGAGGCAATGGAAAAGCTCAT 0.418000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 29 31 0 0 1 0 0 RPN2 6185 broad.mit.edu 37 20 35860769 35860769 + Nonsense_Mutation SNP C C A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr20:35860769C>A ENST00000237530.6 + 14 1963 c.1652C>A c.(1651-1653)tCg>tAg p.S551* RPN2_ENST00000470352.1_Intron|RPN2_ENST00000373622.5_Nonsense_Mutation_p.S519* NM_002951.3 NP_002942.2 P04844 RPN2_HUMAN ribophorin II 551 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1) 24 Myeloproliferative disorder(115;0.00878) CTGATCCTCTCGCCGTTGCTT 0.577000 62 96 2.05175e-36 2.21427e-36 1 1 0 ITK 3702 broad.mit.edu 37 5 156608027 156608027 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr5:156608027G>C ENST00000422843.3 + 1 191 c.39G>C c.(37-39)aaG>aaC p.K13N NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 13 PH. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGCTCATCAAGAAATCCCAAC 0.448000 T SYK peripheral T-cell lymphoma 4 81 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44910952 44910952 + Splice_Site SNP A A G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chrX:44910952A>G ENST00000377967.4 + 9 695 c.e9-1 KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(4) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TCTGTTCTTTAGAGGAAATAT 0.289000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 29 9 0 0 1 0 0 CCDC68 80323 broad.mit.edu 37 18 52575092 52575092 + Splice_Site SNP T T C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr18:52575092T>C ENST00000591504.1 - 11 1149 c.875A>G c.(874-876)aAt>aGt p.N292S CCDC68_ENST00000337363.4_Splice_Site_p.N292S|CCDC68_ENST00000432185.1_Splice_Site_p.N292S NM_025214.2 NP_079490.1 Q9H2F9 CCD68_HUMAN coiled-coil domain containing 68 292 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1) 14 Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21) TAGTTCTTTATTCTAAAATTG 0.413000 13 36 0 0 1 0 0 CCDC151 115948 broad.mit.edu 37 19 11537746 11537746 + Silent SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr19:11537746G>A ENST00000356392.4 - 4 646 c.559C>T c.(559-561)Ctg>Ttg p.L187L CCDC151_ENST00000545100.1_Silent_p.L133L|CCDC151_ENST00000591179.1_Silent_p.L161L|CCDC151_ENST00000586836.1_5'UTR NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 187 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 AGAAGGCGCAGGCTGTGCTGC 0.667000 8 49 0 0 1 0 0 TDRD3 81550 broad.mit.edu 37 13 61034520 61034520 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr13:61034520G>C ENST00000535286.1 + 4 271 c.199G>C c.(199-201)Ggt>Cgt p.G67R TDRD3_ENST00000463109.1_3'UTR|TDRD3_ENST00000377894.2_5'UTR|TDRD3_ENST00000377881.2_5'UTR|TDRD3_ENST00000196169.3_5'UTR NM_001146070.1 NP_001139542.1 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 0 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) ACAGCTCGAAGGTCCATGTGT 0.368000 4 32 0 0 1 0 0 VSTM4 196740 broad.mit.edu 37 10 50315779 50315779 + Missense_Mutation SNP C C A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr10:50315779C>A ENST00000332853.4 - 2 340 c.317G>T c.(316-318)cGg>cTg p.R106L VSTM4_ENST00000298454.3_Missense_Mutation_p.R106L NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 Ig-like. integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 GAGCGCCCCCCGCTGCTCCTC 0.607000 11 62 2.80697e-09 2.88642e-09 1 1 0 TALDO1 6888 broad.mit.edu 37 11 763868 763868 + Silent SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr11:763868C>T ENST00000319006.3 + 6 912 c.759C>T c.(757-759)ctC>ctT p.L253L TALDO1_ENST00000528097.1_Silent_p.L253L P37837 TALDO_HUMAN transaldolase 1 253 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2) 14 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712) GTGACTTCCTCACCATCTCAC 0.582000 52 11 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78513215 78513215 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr12:78513215C>G ENST00000397909.2 + 15 3412 c.3239C>G c.(3238-3240)aCc>aGc p.T1080S NAV3_ENST00000536525.2_Missense_Mutation_p.T1080S|NAV3_ENST00000266692.7_Missense_Mutation_p.T1080S|NAV3_ENST00000228327.6_Missense_Mutation_p.T1080S Q8IVL0 NAV3_HUMAN neuron navigator 3 1080 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GCCATGATCACCAGCAGTGGA 0.498000 HNSCC(70;0.22) 41 64 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236923046 236923046 + Missense_Mutation SNP A A T rs147616930 TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr1:236923046A>T ENST00000366578.4 + 19 2490 c.2324A>T c.(2323-2325)cAt>cTt p.H775L ACTN2_ENST00000546208.1_Missense_Mutation_p.H269L|ACTN2_ENST00000542672.1_Missense_Mutation_p.H775L NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 775 EF-hand 1. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CTGATGGATCATGAGGATTTC 0.408000 5 111 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 50 0 0 1 0 0 SAMHD1 25939 broad.mit.edu 37 20 35579967 35579967 + Missense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr20:35579967G>A ENST00000262878.4 - 1 279 c.80C>T c.(79-81)tCc>tTc p.S27F SAMHD1_ENST00000373694.5_5'UTR NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 27 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) TGCCTCTGCGGAAGGGGTGTT 0.647000 120 157 0 0 1 0 0 MTERF 7978 broad.mit.edu 37 7 91504047 91504047 + Missense_Mutation SNP T T C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr7:91504047T>C ENST00000351870.3 - 3 154 c.61A>G c.(61-63)Atg>Gtg p.M21V MTERF_ENST00000406735.2_Start_Codon_SNP_p.M1V|MTERF_ENST00000419292.1_Start_Codon_SNP_p.M1V NM_006980.3 NP_008911.1 Q99551 MTERF_HUMAN mitochondrial transcription termination factor 21 DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription mitochondrial nucleoid double-stranded DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1) 14 all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176) CCTGGTGCCATAATGGTTAGG 0.333000 11 41 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161527725 161527725 + Missense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr6:161527725G>A ENST00000392142.4 + 20 4184 c.4036G>A c.(4036-4038)Gga>Aga p.G1346R MAP3K4_ENST00000366919.2_Missense_Mutation_p.G1296R|MAP3K4_ENST00000348824.7_Missense_Mutation_p.G1292R|MAP3K4_ENST00000366920.2_Missense_Mutation_p.G1342R NM_005922.2 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1346 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) ATGGCAAAGAGGAAACAAAAT 0.378000 29 16 0 0 1 0 0 PPM1D 8493 broad.mit.edu 37 17 58740747 58740747 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr17:58740747G>C ENST00000305921.3 + 6 1884 c.1652G>C c.(1651-1653)aGa>aCa p.R551T NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D 551 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) AAGAAGCATAGACGAAATGGC 0.468000 OREG0031485 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 46 49 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 101110332 101110332 + Silent SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr6:101110332C>T ENST00000369162.2 - 15 2711 c.2367G>A c.(2365-2367)caG>caA p.Q789Q NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 789 Helicase C-terminal 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) AATTTCTGTCCTGCCGAAGCA 0.423000 8 36 0 0 1 0 0 IL2 3558 broad.mit.edu 37 4 123373004 123373004 + Missense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr4:123373004G>A ENST00000226730.4 - 4 649 c.365C>T c.(364-366)aCa>aTa p.T122I NM_000586.3 NP_000577.2 P60568 IL2_HUMAN interleukin 2 122 anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity endometrium(2)|large_intestine(4)|lung(6)|skin(1) 13 LUSC - Lung squamous cell carcinoma(721;0.185) ACACATGAATGTTGTTTCAGA 0.323000 T TNFRSF17 intestinal T-cell lymphoma 3 35 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61815664 61815664 + Missense_Mutation SNP C C A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr10:61815664C>A ENST00000280772.2 - 42 13008 c.12817G>T c.(12817-12819)Gat>Tat p.D4273Y ANK3_ENST00000355288.2_Missense_Mutation_p.D897Y|ANK3_ENST00000503366.1_Missense_Mutation_p.D1764Y|ANK3_ENST00000373827.2_Missense_Mutation_p.D1757Y|RP11-388P9.2_ENST00000414383.1_RNA NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTTCCTACATCATTTTGGGAT 0.388000 45 91 2.55665e-31 2.74556e-31 1 1 0 MRC1 4360 broad.mit.edu 37 10 18138626 18138626 + Missense_Mutation SNP A A C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr10:18138626A>C ENST00000239761.3 + 7 1285 c.1182A>C c.(1180-1182)gaA>gaC p.E394D NM_002438.2 NP_002429.1 P22897 MRC1_HUMAN mannose receptor, C type 1 394 C-type lectin 2. receptor-mediated endocytosis endosome membrane|integral to plasma membrane mannose binding|receptor activity breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1) 6 GCAGGAAGGAAGGCGGTGACC 0.468000 45 102 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24567013 24567013 + Nonsense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr16:24567013C>G ENST00000319715.4 + 5 858 c.426C>G c.(424-426)taC>taG p.Y142* RBBP6_ENST00000348022.2_Nonsense_Mutation_p.Y142*|RBBP6_ENST00000381039.3_Nonsense_Mutation_p.Y142* NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 142 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) GCCATGAATACGACCCAATCA 0.368000 8 79 0 0 1 0 0 SCNM1 79005 broad.mit.edu 37 1 151138954 151138954 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr1:151138954G>C ENST00000368905.4 + 2 170 c.59G>C c.(58-60)aGa>aCa p.R20T SCNM1_ENST00000461862.1_3'UTR NM_001204856.1|NM_024041.3 NP_001191785.1|NP_076946.1 Q9BWG6 SCNM1_HUMAN sodium channel modifier 1 20 mRNA processing|RNA splicing nucleus metal ion binding|protein binding p.R20K(1) breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CAGAAAAGAAGAGTCGGGGAC 0.527000 3 14 0 0 1 0 0 ZRANB2 9406 broad.mit.edu 37 1 71536642 71536642 + Missense_Mutation SNP T T C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr1:71536642T>C ENST00000370920.3 - 7 852 c.551A>G c.(550-552)aAt>aGt p.N184S ZRANB2_ENST00000254821.6_Missense_Mutation_p.N184S NM_203350.2 NP_976225.1 O95218 ZRAB2_HUMAN zinc finger, RAN-binding domain containing 2 184 Required for nuclear targeting. mRNA processing|RNA splicing nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1) 15 GGCATCAAGATTATATTTTGA 0.333000 20 38 0 0 1 0 0 CCR10 2826 broad.mit.edu 37 17 40831703 40831703 + Silent SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr17:40831703C>T ENST00000591765.1 - 2 1676 c.291G>A c.(289-291)caG>caA p.Q97Q CCR10_ENST00000332438.4_Silent_p.Q319Q P46092 CCR10_HUMAN chemokine (C-C motif) receptor 10 319 integral to plasma membrane lung(1)|ovary(1)|skin(1) 3 Breast(137;0.000153) BRCA - Breast invasive adenocarcinoma(366;0.14) TCCGCAGGTCCTGGCGGAAGC 0.706000 9 12 0 0 1 0 0 SLC26A5 375611 broad.mit.edu 37 7 103029793 103029793 + Missense_Mutation SNP T T C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr7:103029793T>C ENST00000306312.3 - 13 1651 c.1390A>G c.(1390-1392)Acc>Gcc p.T464A SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393727.1_Missense_Mutation_p.T464A|SLC26A5_ENST00000393723.1_Intron|SLC26A5_ENST00000393730.1_Intron|SLC26A5_ENST00000393729.1_Missense_Mutation_p.T427A|SLC26A5_ENST00000432958.2_Intron|SLC26A5_ENST00000393735.2_Missense_Mutation_p.T464A|SLC26A5_ENST00000339444.6_Missense_Mutation_p.T464A|SLC26A5_ENST00000356767.4_Intron NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 464 regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 ATTTTGCTGGTTCTCCAGAAA 0.413000 15 70 0 0 1 0 0 CCDC155 147872 broad.mit.edu 37 19 49920479 49920479 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr19:49920479G>C ENST00000447857.3 + 19 1708 c.1503G>C c.(1501-1503)agG>agC p.R501S NM_144688.4 NP_653289.3 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 501 integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 TCCCAGTCAGGAGGAGGGCCT 0.632000 18 19 0 0 1 0 0 CEP97 79598 broad.mit.edu 37 3 101450783 101450783 + Silent SNP C C A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr3:101450783C>A ENST00000341893.3 + 5 1299 c.547C>A c.(547-549)Cga>Aga p.R183R CEP97_ENST00000327230.4_Silent_p.R183R|CEP97_ENST00000494050.1_Silent_p.R183R Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 183 centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 AAATGAAATCCGAGACTTAAA 0.413000 54 72 9.72345e-25 1.02899e-24 1 1 0 OR2B6 26212 broad.mit.edu 37 6 27925349 27925349 + Missense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr6:27925349G>A ENST00000244623.1 + 1 331 c.331G>A c.(331-333)Gaa>Aaa p.E111K NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GGGGGCTACTGAATATCTTCT 0.453000 130 28 0 0 1 0 0 TTC37 9652 broad.mit.edu 37 5 94863760 94863760 + Missense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr5:94863760G>A ENST00000358746.2 - 13 1389 c.1091C>T c.(1090-1092)tCa>tTa p.S364L NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 364 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 GTCATAATCTGAGAGTTTAAT 0.393000 6 77 0 0 1 0 0 GM2A 2760 broad.mit.edu 37 5 150646928 150646928 + Silent SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr5:150646928G>A ENST00000357164.3 + 4 823 c.498G>A c.(496-498)ggG>ggA p.G166G NM_000405.4|NM_001167607.1 NP_000396.2|NP_001161079.1 P17900 SAP3_HUMAN GM2 ganglioside activator 166 lysosome|nucleolus sphingolipid activator protein activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2) 8 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCACCACCGGGAACTACCGCA 0.582000 3 32 0 0 1 0 0 SAMD15 161394 broad.mit.edu 37 14 77844833 77844833 + Missense_Mutation SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr14:77844833C>T ENST00000216471.4 + 1 1358 c.1072C>T c.(1072-1074)Cca>Tca p.P358S SAMD15_ENST00000533095.2_Intron NM_001010860.1 NP_001010860.1 Q9P1V8 SAM15_HUMAN sterile alpha motif domain containing 15 358 breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AATGATGAAACCAGAAAGTCC 0.403000 8 29 0 0 1 0 0 MLLT10 8028 broad.mit.edu 37 10 21823699 21823699 + Silent SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr10:21823699C>T ENST00000377072.3 + 2 474 c.126C>T c.(124-126)tgC>tgT p.C42C MLLT10_ENST00000377091.2_Silent_p.C42C|MLLT10_ENST00000495130.1_3'UTR|MLLT10_ENST00000446906.2_Silent_p.C42C|MLLT10_ENST00000377100.3_Silent_p.C42C|MLLT10_ENST00000377059.3_Silent_p.C42C|MLLT10_ENST00000307729.7_Silent_p.C42C NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 42 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 TGGTTTATTGCGACGGGCACG 0.657000 T """MLL, PICALM, CDK6""" AL 8 49 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8994153 8994153 + Silent SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr19:8994153C>T ENST00000397910.4 - 65 41735 c.41532G>A c.(41530-41532)ctG>ctA p.L13844L MUC16_ENST00000380951.5_Silent_p.L485L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13847 SEA 12. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGAGCAAGGTCAGCCTGCAGC 0.532000 28 55 0 0 1 0 0 CDKN1A 1026 broad.mit.edu 37 6 36652129 36652129 + Missense_Mutation SNP G G A rs34916193 byFrequency TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr6:36652129G>A ENST00000405375.1 + 2 486 c.251G>A c.(250-252)cGa>cAa p.R84Q CDKN1A_ENST00000448526.2_Missense_Mutation_p.R118Q|CDKN1A_ENST00000373711.2_Missense_Mutation_p.R84Q|CDKN1A_ENST00000244741.5_Missense_Mutation_p.R84Q|CDKN1A_ENST00000478800.1_3'UTR NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 84 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 GGGCCCCGGCGAGGCCGGGAT 0.652000 7 3 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120796685 120796685 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr10:120796685G>C ENST00000369144.3 - 21 3992 c.3865C>G c.(3865-3867)Cta>Gta p.L1289V EIF3A_ENST00000541549.1_Missense_Mutation_p.L1255V NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 1289 Asp-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) TCGTCTCTTAGATCTCGTCTT 0.502000 60 68 0 0 1 0 0 KCTD18 130535 broad.mit.edu 37 2 201371692 201371692 + Silent SNP C C A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr2:201371692C>A ENST00000359878.3 - 2 558 c.48G>T c.(46-48)ctG>ctT p.L16L KCTD18_ENST00000468413.1_5'UTR|KCTD18_ENST00000409157.1_Silent_p.L16L NM_152387.2 NP_689600.2 Q6PI47 KCD18_HUMAN potassium channel tetramerization domain containing 18 16 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 CACCCACGTTCAGTCGGAGAA 0.507000 25 17 7.63505e-26 8.15902e-26 1 1 0 TRIM42 287015 broad.mit.edu 37 3 140397202 140397202 + Missense_Mutation SNP A A G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr3:140397202A>G ENST00000286349.3 + 1 322 c.131A>G c.(130-132)tAc>tGc p.Y44C NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 44 Cys-rich. intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CCCTGCCCTTACAAAGATGAG 0.527000 19 146 0 0 1 0 0 RASAL1 8437 broad.mit.edu 37 12 113553762 113553762 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr12:113553762C>G ENST00000546530.1 - 10 1111 c.826G>C c.(826-828)Gag>Cag p.E276Q RASAL1_ENST00000446861.3_Missense_Mutation_p.E276Q|RASAL1_ENST00000261729.5_Missense_Mutation_p.E276Q|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.E276Q NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 276 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 TGCACAGACTCCATGAGCAGC 0.662000 44 59 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151155787 151155787 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr3:151155787C>G ENST00000282466.3 - 6 6561 c.6562G>C c.(6562-6564)Gat>Cat p.D2188H IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2188 Ig-like C2-type 8. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTGTACCTATCAATGGAGAAG 0.463000 63 64 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47423813 47423813 + Silent SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr19:47423813G>A ENST00000404338.3 + 1 1881 c.1881G>A c.(1879-1881)gtG>gtA p.V627V NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 627 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity ACAAGTATGTGATAGATGGTA 0.458000 7 187 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166900334 166900334 + Missense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr2:166900334G>A ENST00000423058.2 - 11 1905 c.1888C>T c.(1888-1890)Cgg>Tgg p.R630W SCN1A_ENST00000303395.4_Missense_Mutation_p.R630W|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R630W|SCN1A_ENST00000409050.1_Missense_Mutation_p.R630W NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 630 voltage-gated sodium channel complex voltage-gated sodium channel activity p.R630W(1) 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) GCCAGCATCCGGGATGACCTA 0.537000 33 20 0 0 1 0 0 CCRL2 9034 broad.mit.edu 37 3 46449682 46449682 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr3:46449682G>C ENST00000399036.3 + 2 464 c.112G>C c.(112-114)Gcc>Ccc p.A38P CCRL2_ENST00000357392.4_Missense_Mutation_p.A50P|CCRL2_ENST00000400880.3_Missense_Mutation_p.A38P|CCRL2_ENST00000400882.2_Missense_Mutation_p.A38P NM_003965.4 NP_003956.2 O00421 CCRL2_HUMAN chemokine (C-C motif) receptor-like 2 chemotaxis|inflammatory response integral to plasma membrane CCR chemokine receptor binding|chemokine receptor activity lung(3)|ovary(1)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) GGCACTCTCAGCCCAGCTGGT 0.507000 14 25 0 0 1 0 0 CAPN7 23473 broad.mit.edu 37 3 15258962 15258962 + Nonsense_Mutation SNP C C A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr3:15258962C>A ENST00000253693.2 + 3 495 c.242C>A c.(241-243)tCa>tAa p.S81* NM_014296.2 NP_055111.1 Q9Y6W3 CAN7_HUMAN calpain 7 81 proteolysis nucleus calcium-dependent cysteine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2) 22 CCTTTGAAGTCAAAACATCAG 0.348000 28 28 2.85442e-18 2.99165e-18 1 1 0 TXNDC12 51060 broad.mit.edu 37 1 52489189 52489189 + Missense_Mutation SNP T T C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr1:52489189T>C ENST00000371626.4 - 6 1487 c.413A>G c.(412-414)aAg>aGg p.K138R TXNDC12_ENST00000471493.1_5'UTR NM_015913.3 NP_056997.1 O95831 AIFM1_HUMAN thioredoxin domain containing 12 (endoplasmic reticulum) 209 FAD-dependent oxidoreductase (By similarity). activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 7 ATAAAAATACTTGTAGCTGGG 0.413000 47 39 0 0 1 0 0 ZNF134 7693 broad.mit.edu 37 19 58132285 58132285 + Silent SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr19:58132285G>C ENST00000396161.5 + 3 1108 c.798G>C c.(796-798)ggG>ggC p.G266G NM_003435.3 NP_003426.3 P52741 ZN134_HUMAN zinc finger protein 134 266 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1) 11 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;0.0265) ATGAATGTGGGAAATATTTTA 0.413000 17 132 0 0 1 0 0 HEATR4 399671 broad.mit.edu 37 14 73967376 73967376 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr14:73967376C>G ENST00000553558.1 - 12 2485 c.2164G>C c.(2164-2166)Gag>Cag p.E722Q HEATR4_ENST00000334988.2_Missense_Mutation_p.E722Q|HEATR4_ENST00000560393.1_Missense_Mutation_p.E675Q NM_001220484.1 NP_001207413.1 HEAT repeat containing 4 breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) AGCTTGAGCTCACCTATCAGG 0.522000 16 60 0 0 1 0 0 DCAKD 79877 broad.mit.edu 37 17 43112181 43112181 + Missense_Mutation SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr17:43112181C>T ENST00000452796.2 - 1 328 c.73G>A c.(73-75)Ggc>Agc p.G25S DCAKD_ENST00000310604.4_Missense_Mutation_p.G25S|DCAKD_ENST00000588295.1_5'UTR|DCAKD_ENST00000588499.1_Missense_Mutation_p.G25S|DCAKD_ENST00000342350.5_Missense_Mutation_p.G25S Q8WVC6 DCAKD_HUMAN dephospho-CoA kinase domain containing 25 DPCK. coenzyme A biosynthetic process ATP binding|dephospho-CoA kinase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1) 6 Prostate(33;0.155) ACCGCACAGCCCAGCTGCTGG 0.632000 4 15 0 0 1 0 0 ATF7 11016 broad.mit.edu 37 12 53917062 53917062 + Nonsense_Mutation SNP A A C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr12:53917062A>C ENST00000420353.2 - 11 1381 c.1232T>G c.(1231-1233)tTa>tGa p.L411* ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000548446.2_Nonsense_Mutation_p.L422*|RP11-793H13.10_ENST00000591834.1_Nonsense_Mutation_p.L411*|ATF7_ENST00000415113.1_Nonsense_Mutation_p.L390*|ATF7_ENST00000456903.4_Nonsense_Mutation_p.L411*|ATF7_ENST00000328463.7_Nonsense_Mutation_p.L422* NM_006856.2 NP_006847.1 P17544 ATF7_HUMAN activating transcription factor 7 422 Essential for binding adenovirus 2 E1A. interspecies interaction between organisms cytoplasm|nuclear periphery|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 CCACTCACCTAAATAGCCTTG 0.418000 23 29 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48463175 48463175 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr3:48463175C>G ENST00000358536.4 - 7 1830 c.1561G>C c.(1561-1563)Gag>Cag p.E521Q PLXNB1_ENST00000358459.4_Missense_Mutation_p.E521Q|PLXNB1_ENST00000296440.6_Missense_Mutation_p.E521Q|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.E521Q NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 521 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGCCACTGCTCTGGGCCCTGG 0.607000 11 23 0 0 1 0 0 SUGP1 57794 broad.mit.edu 37 19 19416815 19416815 + Silent SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr19:19416815G>A ENST00000247001.5 - 4 728 c.381C>T c.(379-381)ctC>ctT p.L127L SUGP1_ENST00000334782.5_Silent_p.L127L|SUGP1_ENST00000585763.1_5'UTR NM_172231.3 NP_757386.2 Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 127 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 GCCTGCTGATGAGCAGGGACC 0.692000 12 21 0 0 1 0 0 HNRNPD 3184 broad.mit.edu 37 4 83280673 83280673 + Nonsense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr4:83280673G>C ENST00000313899.7 - 3 687 c.410C>G c.(409-411)tCa>tGa p.S137* HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000352301.4_Nonsense_Mutation_p.S118*|HNRNPD_ENST00000543098.1_Nonsense_Mutation_p.S85*|HNRNPD_ENST00000353341.4_Nonsense_Mutation_p.S137* NM_031370.2 NP_112738.1 Q14103 HNRPD_HUMAN heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) 137 RRM 1. nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|telomeric DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1) 7 AAAACCCCTTGATCGCCCTGT 0.373000 93 22 0 0 1 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36103813 36103813 + Missense_Mutation SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr14:36103813C>T ENST00000258840.6 - 33 4975 c.4585G>A c.(4585-4587)Gaa>Aaa p.E1529K RALGAPA1_ENST00000382366.3_Missense_Mutation_p.E1495K|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.E1482K|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.E1482K NM_001283044.1 NP_001269973.1 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 1482 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GAAGATCGTTCTGAGTCAGGA 0.428000 14 54 0 0 1 0 0 SLC24A5 283652 broad.mit.edu 37 15 48414197 48414197 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr15:48414197G>C ENST00000482911.2 + 2 306 c.265G>C c.(265-267)Gaa>Caa p.E89Q SLC24A5_ENST00000341459.3_Missense_Mutation_p.E89Q|SLC24A5_ENST00000449382.2_Intron Q71RS6 NCKX5_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 89 response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1) 27 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) TGTCTGTGATGAATACTTCCT 0.443000 67 72 0 0 1 0 0 DKK2 27123 broad.mit.edu 37 4 107845257 107845257 + Missense_Mutation SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr4:107845257C>T ENST00000285311.3 - 4 1339 c.634G>A c.(634-636)Gaa>Aaa p.E212K DKK2_ENST00000513208.1_Missense_Mutation_p.E112K|DKK2_ENST00000510463.1_Missense_Mutation_p.E166K NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 212 DKK-type Cys-2. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) GTACAGACTTCCCCCTGATGG 0.502000 13 135 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61868601 61868601 + Missense_Mutation SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr10:61868601C>T ENST00000280772.2 - 27 3351 c.3160G>A c.(3160-3162)Gca>Aca p.A1054T ANK3_ENST00000355288.2_Missense_Mutation_p.A188T|ANK3_ENST00000503366.1_Missense_Mutation_p.A1055T|ANK3_ENST00000373827.2_Missense_Mutation_p.A1048T NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) ZU5. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AAAAATTGTGCCCCTGCAGGA 0.453000 4 45 0 0 1 0 0 FYN 2534 broad.mit.edu 37 6 112025302 112025302 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr6:112025302C>G ENST00000354650.3 - 7 1053 c.447G>C c.(445-447)tgG>tgC p.W149C FYN_ENST00000229471.4_Missense_Mutation_p.W149C|FYN_ENST00000368667.2_Missense_Mutation_p.W149C|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000368678.4_Missense_Mutation_p.W149C|FYN_ENST00000229470.5_Missense_Mutation_p.W100C|FYN_ENST00000368682.3_Missense_Mutation_p.W149C|FYN_ENST00000538466.1_Missense_Mutation_p.W149C|FYN_ENST00000356013.2_Missense_Mutation_p.W149C NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 149 SH2. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) TTCCAAAGTACCACCTTTAAA 0.398000 17 65 0 0 1 0 0 CDKN1A 1026 broad.mit.edu 37 6 36652140 36652140 + Missense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr6:36652140G>A ENST00000405375.1 + 2 497 c.262G>A c.(262-264)Gag>Aag p.E88K CDKN1A_ENST00000448526.2_Missense_Mutation_p.E122K|CDKN1A_ENST00000373711.2_Missense_Mutation_p.E88K|CDKN1A_ENST00000244741.5_Missense_Mutation_p.E88K|CDKN1A_ENST00000478800.1_3'UTR NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 88 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 AGGCCGGGATGAGTTGGGAGG 0.667000 9 0 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57598982 57598982 + Missense_Mutation SNP A A G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr12:57598982A>G ENST00000243077.3 + 73 11751 c.11285A>G c.(11284-11286)aAc>aGc p.N3762S NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3762 LDL-receptor class A 31. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTGCGCTGCAACATGTTCGAT 0.657000 15 97 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102505826 102505826 + Silent SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr14:102505826G>C ENST00000360184.4 + 61 11702 c.11538G>C c.(11536-11538)ctG>ctC p.L3846L RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3846 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 ACCCGAACCTGAAGGGTGTCA 0.542000 24 21 0 0 1 0 0 CCR10 2826 broad.mit.edu 37 17 40831702 40831702 + Missense_Mutation SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr17:40831702C>T ENST00000591765.1 - 2 1677 c.292G>A c.(292-294)Gac>Aac p.D98N CCR10_ENST00000332438.4_Missense_Mutation_p.D320N P46092 CCR10_HUMAN chemokine (C-C motif) receptor 10 320 integral to plasma membrane lung(1)|ovary(1)|skin(1) 3 Breast(137;0.000153) BRCA - Breast invasive adenocarcinoma(366;0.14) CTCCGCAGGTCCTGGCGGAAG 0.711000 9 12 0 0 1 0 0 RNF145 153830 broad.mit.edu 37 5 158586021 158586021 + Missense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr5:158586021G>A ENST00000424310.2 - 11 2008 c.1649C>T c.(1648-1650)aCg>aTg p.T550M RNF145_ENST00000518802.1_Missense_Mutation_p.T580M|RNF145_ENST00000274542.2_Missense_Mutation_p.T578M|RNF145_ENST00000520638.1_Missense_Mutation_p.T564M|RNF145_ENST00000519865.1_Missense_Mutation_p.T550M|RNF145_ENST00000521606.2_Missense_Mutation_p.T567M|RNF145_ENST00000518284.1_5'UTR NM_001199383.1 NP_001186312.1 Q96MT1 RN145_HUMAN ring finger protein 145 550 integral to membrane zinc ion binding endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACTGCAAGGCGTGATCACAGC 0.448000 3 51 0 0 1 0 0 MARS 4141 broad.mit.edu 37 12 57882851 57882851 + Silent SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr12:57882851G>A ENST00000262027.5 + 2 293 c.159G>A c.(157-159)ctG>ctA p.L53L MARS_ENST00000315473.5_5'UTR|MARS_ENST00000447721.2_Intron NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 53 L -> V (in Ref. 1; CAA64381). methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) TCTTGCAGCTGGATAGCGGCA 0.473000 50 87 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193019073 193019073 + Missense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr3:193019073G>A ENST00000342358.4 - 24 2819 c.2702C>T c.(2701-2703)tCa>tTa p.S901L ATP13A5_ENST00000495496.1_5'UTR NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 901 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TCCAAAGGATGAAACCAGAGC 0.333000 5 231 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102505872 102505872 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr14:102505872G>C ENST00000360184.4 + 61 11748 c.11584G>C c.(11584-11586)Gac>Cac p.D3862H RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3862 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TATAACAAAGGACCTCTTCCA 0.547000 34 25 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78334906 78334906 + Missense_Mutation SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr12:78334906C>T ENST00000397909.2 + 3 580 c.407C>T c.(406-408)tCt>tTt p.S136F NAV3_ENST00000536525.2_Missense_Mutation_p.S136F|NAV3_ENST00000266692.7_Missense_Mutation_p.S136F|NAV3_ENST00000228327.6_Missense_Mutation_p.S136F Q8IVL0 NAV3_HUMAN neuron navigator 3 136 CH. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 AGAAGTCAGTCTCAGATGGTA 0.294000 HNSCC(70;0.22) 11 102 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237494230 237494230 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr1:237494230C>G ENST00000366574.2 + 3 538 c.221C>G c.(220-222)tCt>tGt p.S74C RYR2_ENST00000542537.1_Missense_Mutation_p.S58C|RYR2_ENST00000360064.6_Missense_Mutation_p.L72V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 74 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAGTCCCTCTCTGTCCGGGCG 0.507000 22 52 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166690 19166690 + Silent SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr1:19166690G>A ENST00000375371.3 - 6 1944 c.1923C>T c.(1921-1923)ttC>ttT p.F641F NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 641 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) TGCAGATTGTGAAGCAGAGGG 0.622000 21 69 0 0 1 0 0 ZNF212 7988 broad.mit.edu 37 7 148950974 148950974 + Missense_Mutation SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr7:148950974C>T ENST00000335870.2 + 5 1084 c.956C>T c.(955-957)tCt>tTt p.S319F NM_012256.3 NP_036388.2 Q9UDV6 ZN212_HUMAN zinc finger protein 212 319 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) TACGAATGTTCTGAGTGTGAG 0.577000 26 24 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25887280 25887280 + Missense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr10:25887280G>A ENST00000376351.3 + 11 3084 c.2725G>A c.(2725-2727)Gcc>Acc p.A909T GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 909 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CATAGCAAGCGCCAAGGAGAA 0.478000 60 55 0 0 1 0 0 DRD4 1815 broad.mit.edu 37 11 639902 639902 + Missense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr11:639902G>A ENST00000176183.5 + 3 665 c.653G>A c.(652-654)gGc>gAc p.G218D NM_000797.3 NP_000788.2 P21917 DRD4_HUMAN dopamine receptor D4 218 activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior integral to plasma membrane dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|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;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703) Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246) ACGTTCCGCGGCCTGCAGCGC 0.736000 5 14 0 0 1 0 0 CXorf61 203413 broad.mit.edu 37 X 115593127 115593127 + Silent SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chrX:115593127C>G ENST00000371894.4 - 2 269 c.123G>C c.(121-123)gtG>gtC p.V41V NM_001017978.2 NP_001017978.1 Q5H943 KKLC1_HUMAN chromosome X open reading frame 61 41 integral to membrane|plasma membrane breast(1)|large_intestine(3)|lung(8) 12 AAGAGGGTCTCACTAGTGCAA 0.373000 52 7 0 0 1 0 0 H1FOO 132243 broad.mit.edu 37 3 129269620 129269620 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr3:129269620G>C ENST00000324382.2 + 4 780 c.775G>C c.(775-777)Gag>Cag p.E259Q H1FOO_ENST00000503977.1_Missense_Mutation_p.E120Q NM_153833.1 NP_722575.1 Q8IZA3 H1FOO_HUMAN H1 histone family, member O, oocyte-specific 259 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding endometrium(1)|lung(4)|skin(1) 6 AACCAAAGCTGAGAGTAAGAG 0.542000 17 15 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20588554 20588554 + RNA SNP C C G rs112526901 by1000genomes TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr15:20588554C>G ENST00000428453.1 - 0 4196 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CCGTGGAAAGCGGTTGCAGAA 0.473000 4 21 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3067474 3067474 + Missense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr18:3067474G>A ENST00000400569.3 - 38 5177 c.4844C>T c.(4843-4845)tCa>tTa p.S1615L MYOM1_ENST00000261606.7_Missense_Mutation_p.S1519L|MYOM1_ENST00000356443.4_Missense_Mutation_p.S1615L P52179 MYOM1_HUMAN myomesin 1 1615 Ig-like C2-type 5. SD -> QT (in Ref. 5; CAA48833). striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GTGGTCGTCTGAGGCCAGGGC 0.592000 25 10 0 0 1 0 0 PLCXD1 55344 broad.mit.edu 37 X 205419 205419 + Silent SNP G G T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chrX:205419G>T ENST00000381657.2 + 3 661 c.147G>T c.(145-147)acG>acT p.T49T PLCXD1_ENST00000484611.2_3'UTR|PLCXD1_ENST00000399012.1_Silent_p.T49T|PLCXD1_ENST00000381663.3_Silent_p.T49T NM_018390.3 NP_060860.1 Q9NUJ7 PLCX1_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 1 49 PI-PLC X-box. intracellular signal transduction|lipid metabolic process phospholipase C activity endometrium(3)|large_intestine(1)|lung(7) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ACACGATGACGTACTGCCTGA 0.627000 42 69 1.00953e-15 1.04302e-15 1 1 0 SRCAP 10847 broad.mit.edu 37 16 30748865 30748865 + Missense_Mutation SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr16:30748865C>T ENST00000262518.4 + 34 7889 c.7504C>T c.(7504-7506)Cct>Tct p.P2502S SRCAP_ENST00000395059.2_Missense_Mutation_p.P2440S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P2344S NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2502 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) ctgcacccctcctcctgcctg 0.552000 15 15 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433035 55433035 + Silent SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr11:55433035G>A ENST00000314259.3 + 1 422 c.393G>A c.(391-393)acG>acA p.T131T NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T131T(2) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TGCACTACACGATCATCATGA 0.512000 59 16 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24909082 24909082 + Missense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr10:24909082G>A ENST00000396432.2 - 9 2228 c.1742C>T c.(1741-1743)tCg>tTg p.S581L ARHGAP21_ENST00000320481.6_Missense_Mutation_p.S368L NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 580 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 TTTAAACTGCGACACAGATCC 0.398000 14 117 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 4 119 0 0 1 0 0 TBC1D23 55773 broad.mit.edu 37 3 100029351 100029351 + Silent SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr3:100029351C>T ENST00000394144.4 + 14 1525 c.1518C>T c.(1516-1518)atC>atT p.I506I TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Silent_p.I369I|TBC1D23_ENST00000344949.5_Silent_p.I506I NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 506 intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 AAAAAGTTATCAGTTTTATAG 0.328000 19 34 0 0 1 0 0 LPCAT2 54947 broad.mit.edu 37 16 55616991 55616991 + Nonsense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr16:55616991C>G ENST00000262134.5 + 14 1800 c.1616C>G c.(1615-1617)tCa>tGa p.S539* NM_017839.4 NP_060309.2 Q7L5N7 PCAT2_HUMAN lysophosphatidylcholine acyltransferase 2 539 cellular membrane organization|platelet activating factor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 12 GAGAGTACCTCAGACAAAAAA 0.393000 20 50 0 0 1 0 0 TSHR 7253 broad.mit.edu 37 14 81422127 81422127 + Missense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr14:81422127G>A ENST00000541158.2 + 2 425 c.103G>A c.(103-105)Gag>Aag p.E35K TSHR_ENST00000554435.1_Missense_Mutation_p.E35K|TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000298171.2_Missense_Mutation_p.E35K|TSHR_ENST00000342443.6_Missense_Mutation_p.E35K|TSHR_ENST00000554263.1_Missense_Mutation_p.E35K P16473 TSHR_HUMAN thyroid stimulating hormone receptor 35 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) CCATCAGGAGGAGGACTTCAG 0.622000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 7 100 0 0 1 0 0 CSE1L 1434 broad.mit.edu 37 20 47711290 47711290 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr20:47711290G>C ENST00000262982.2 + 24 2739 c.2616G>C c.(2614-2616)ttG>ttC p.L872F CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000542325.1_Missense_Mutation_p.L655F|CSE1L_ENST00000396192.3_Missense_Mutation_p.L816F NM_001256135.1|NM_001316.3 NP_001243064.1|NP_001307.2 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like (yeast) 872 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) TACAGTCTTTGATTGGTCTTT 0.388000 9 73 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40400191 40400191 + Missense_Mutation SNP G G T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr6:40400191G>T ENST00000338305.6 - 2 1204 c.662C>A c.(661-663)tCc>tAc p.S221Y NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 221 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) CGAAGCCTGGGAGCGGGCAAA 0.592000 5 33 1.23904e-05 1.24475e-05 1 1 0 LDLRAP1 26119 broad.mit.edu 37 1 25880540 25880540 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr1:25880540G>C ENST00000374338.4 + 2 335 c.216G>C c.(214-216)aaG>aaC p.K72N LDLRAP1_ENST00000488127.1_3'UTR NM_015627.2 NP_056442.2 Q5SW96 ARH_HUMAN low density lipoprotein receptor adaptor protein 1 72 PID. amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649) CCGCCATCAAGAGGATCGTGG 0.627000 18 27 0 0 1 0 0 PNPLA1 285848 broad.mit.edu 37 6 36270222 36270222 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr6:36270222G>C ENST00000394571.2 + 6 1360 c.1360G>C c.(1360-1362)Gaa>Caa p.E454Q PNPLA1_ENST00000312917.5_Missense_Mutation_p.E368Q|PNPLA1_ENST00000388715.3_Missense_Mutation_p.E359Q NM_001145717.1 NP_001139189.2 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 454 lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 ACCTGTGGAGGAACTAGGCCA 0.587000 OREG0017382 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 100 0 0 1 0 0 TAF6L 10629 broad.mit.edu 37 11 62554063 62554063 + Silent SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr11:62554063G>A ENST00000294168.3 + 11 1365 c.1164G>A c.(1162-1164)ggG>ggA p.G388G RP11-727F15.12_ENST00000601484.1_RNA|TMEM223_ENST00000527073.1_Intron NM_006473.3 NP_006464.1 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 388 chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent histone deacetylase complex|STAGA complex DNA binding|protein binding|transcription coactivator activity endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1) 16 GTGGCAGGGGGTGCCGGCGCC 0.652000 OREG0021030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 5 0 0 1 0 0 LST3 0 broad.mit.edu 37 12 21220309 21220309 + Missense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr12:21220309G>A ENST00000540229.1 + 14 1987 c.1922G>A c.(1921-1923)cGa>cAa p.R641Q SLCO1B7_ENST00000541784.1_3'UTR|LST3_ENST00000381541.3_Missense_Mutation_p.R580Q|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.R580Q|RP11-125O5.2_ENST00000590779.1_Missense_Mutation_p.D34N|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.R533Q|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.R641Q ATGATTATGCGATCGCTAGGT 0.284000 6 8 0 0 1 0 0 ZMYM4 9202 broad.mit.edu 37 1 35862172 35862172 + Silent SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr1:35862172C>T ENST00000314607.6 + 19 3011 c.2931C>T c.(2929-2931)ccC>ccT p.P977P ZMYM4_ENST00000373297.2_Silent_p.P888P NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 977 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CAAGTCAGCCCCAGATTATTG 0.388000 68 91 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73065807 73065807 + RNA SNP A A T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chrX:73065807A>T ENST00000429829.1 - 0 6781 NR_001564.2 TTCAGATGGAATGGGCAAAGT 0.473000 58 13 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41313305 41313305 + Missense_Mutation SNP C C A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr15:41313305C>A ENST00000361937.3 - 26 3491 c.3067G>T c.(3067-3069)Gat>Tat p.D1023Y INO80_ENST00000401393.3_Missense_Mutation_p.D1023Y|RP11-540O11.4_ENST00000558967.1_RNA Q9ULG1 INO80_HUMAN INO80 complex subunit 1023 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 CAGTAAGAATCCAATGGCACT 0.473000 20 29 1.87028e-06 1.8876e-06 1 1 0 NKIRAS2 28511 broad.mit.edu 37 17 40174451 40174451 + Silent SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr17:40174451C>T ENST00000307641.5 + 3 750 c.129C>T c.(127-129)taC>taT p.Y43Y NKIRAS2_ENST00000462043.2_Intron|NKIRAS2_ENST00000449471.4_Silent_p.Y43Y|NKIRAS2_ENST00000479407.1_Silent_p.Y43Y|NKIRAS2_ENST00000393884.2_Silent_p.Y41Y|NKIRAS2_ENST00000316082.4_Silent_p.Y43Y|NKIRAS2_ENST00000393880.1_Silent_p.Y43Y|NKIRAS2_ENST00000393881.3_Silent_p.Y43Y|NKIRAS2_ENST00000393885.4_Silent_p.Y43Y NM_001001349.2 NP_001001349.1 Q9NYR9 KBRS2_HUMAN NFKB inhibitor interacting Ras-like 2 43 Small GTPase-like. I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 9 all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319) AGGACATCTACGTGGGCTCCA 0.552000 12 32 0 0 1 0 0 ADAM20 8748 broad.mit.edu 37 14 70990556 70990556 + Missense_Mutation SNP T T C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr14:70990556T>C ENST00000256389.3 - 2 1313 c.1069A>G c.(1069-1071)Aag>Gag p.K357E RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 307 Peptidase M12B. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) ACACCAAGCTTCATGCCTTGT 0.333000 21 73 0 0 1 0 0 OAS1 4938 broad.mit.edu 37 12 113357287 113357287 + Missense_Mutation SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr12:113357287C>T ENST00000202917.5 + 6 1395 c.1132C>T c.(1132-1134)Cat>Tat p.H378Y RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Intron|OAS1_ENST00000551241.1_Intron NM_016816.2 NP_058132.2 P00973 OAS1_HUMAN 2'-5'-oligoadenylate synthetase 1, 40/46kDa 378 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1) 16 TCATTTCTCTCATAGACCCAG 0.527000 27 33 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72991733 72991733 + Missense_Mutation SNP C C A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr16:72991733C>A ENST00000268489.5 - 2 2984 c.2312G>T c.(2311-2313)gGg>gTg p.G771V ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 771 Poly-Ala. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccCCGGCAGTGTG 0.622000 34 65 3.21399e-22 3.38479e-22 1 1 0 FFAR3 2865 broad.mit.edu 37 19 35849962 35849962 + Missense_Mutation SNP T T C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr19:35849962T>C ENST00000327809.4 + 2 371 c.170T>C c.(169-171)cTg>cCg p.L57P FFAR3_ENST00000594310.1_Missense_Mutation_p.L57P NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 57 integral to plasma membrane G-protein coupled receptor activity|lipid binding endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) CTGCTCAACCTGACCGCCTCG 0.667000 9 94 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2810398 2810398 + Silent SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr16:2810398C>T ENST00000301740.8 + 10 1479 c.930C>T c.(928-930)ttC>ttT p.F310F NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 310 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 ATGCGCCTTTCAGTGAACCAG 0.552000 15 21 0 0 1 0 0 POLG2 11232 broad.mit.edu 37 17 62492646 62492646 + Missense_Mutation SNP T T A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr17:62492646T>A ENST00000539111.2 - 1 508 c.441A>T c.(439-441)ttA>ttT p.L147F NM_007215.3 NP_009146.2 Q9UHN1 DPOG2_HUMAN polymerase (DNA directed), gamma 2, accessory subunit 147 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) CTGCAGAAACTAACCTGAAGG 0.512000 26 96 0 0 1 0 0 C1orf186 440712 broad.mit.edu 37 1 206241569 206241569 + Missense_Mutation SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr1:206241569C>T ENST00000331555.5 - 4 858 c.220G>A c.(220-222)Gag>Aag p.E74K NM_001007544.1 NP_001007545.1 Q6ZWK4 CA186_HUMAN chromosome 1 open reading frame 186 74 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 9 BRCA - Breast invasive adenocarcinoma(75;0.0754) ATGTCTCTCTCTGTCTGAGTC 0.537000 58 104 0 0 1 0 0 VPS41 27072 broad.mit.edu 37 7 38816347 38816347 + Missense_Mutation SNP T T C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr7:38816347T>C ENST00000310301.4 - 11 868 c.814A>G c.(814-816)Agt>Ggt p.S272G VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Missense_Mutation_p.S247G NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 272 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 GCAAGTCCACTGATGTAGAAT 0.418000 23 14 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39229853 39229853 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr3:39229853C>G ENST00000340369.3 - 2 1312 c.1084G>C c.(1084-1086)Gag>Cag p.E362Q XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.E362Q NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 362 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GCTCCAGCCTCTTCGTCCCCC 0.582000 61 115 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 123983535 123983535 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr3:123983535G>C ENST00000360013.3 + 4 575 c.448G>C c.(448-450)Gag>Cag p.E150Q KALRN_ENST00000240874.3_Missense_Mutation_p.E150Q|KALRN_ENST00000460856.1_Missense_Mutation_p.E150Q NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 150 CRAL-TRIO. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 ATTCATCTTTGAGGTGAGCCA 0.468000 21 29 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 12 13 0 0 1 0 0 CDKN1A 1026 broad.mit.edu 37 6 36652024 36652024 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr6:36652024G>A ENST00000405375.1 + 2 381 c.146G>A c.(145-147)tGg>tAg p.W49* CDKN1A_ENST00000448526.2_Nonsense_Mutation_p.W83*|CDKN1A_ENST00000373711.2_Nonsense_Mutation_p.W49*|CDKN1A_ENST00000244741.5_Nonsense_Mutation_p.W49*|CDKN1A_ENST00000478800.1_3'UTR NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 49 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding p.W49*(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 CGTGAGCGATGGAACTTCGAC 0.667000 25 8 0 0 1 0 0 C5orf49 134121 broad.mit.edu 37 5 7835608 7835608 + Missense_Mutation SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr5:7835608C>T ENST00000399810.2 - 2 619 c.151G>A c.(151-153)Gga>Aga p.G51R C5orf49_ENST00000509627.1_Missense_Mutation_p.G51R NM_001089584.2 NP_001083053.1 A4QMS7 CE049_HUMAN chromosome 5 open reading frame 49 51 large_intestine(3)|lung(5)|skin(1) 9 GAAATAATTCCTGTCTAGGAA 0.448000 45 41 0 0 1 0 0 HPS3 84343 broad.mit.edu 37 3 148880481 148880481 + Missense_Mutation SNP T T G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr3:148880481T>G ENST00000296051.2 + 13 2437 c.2297T>G c.(2296-2298)cTt>cGt p.L766R HPS3_ENST00000460120.1_Missense_Mutation_p.L601R NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 766 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TTTAAGGTGCTTTGTGCTAAG 0.443000 Hermansky-Pudlak syndrome 33 54 0 0 1 0 0 ZNF546 339327 broad.mit.edu 37 19 40520587 40520587 + Missense_Mutation SNP A A T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr19:40520587A>T ENST00000347077.4 + 7 1626 c.1410A>T c.(1408-1410)gaA>gaT p.E470D ZNF546_ENST00000600094.1_Missense_Mutation_p.E444D|ZNF546_ENST00000596894.1_Intron NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 470 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) AACCCTATGAATGTAAGGAAT 0.408000 9 125 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32656088 32656088 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr2:32656088C>G ENST00000421745.2 + 12 3312 c.3178C>G c.(3178-3180)Caa>Gaa p.Q1060E NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 1060 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) GAGGCATCCTCAACATTTGCA 0.448000 16 21 0 0 1 0 0 EIF3I 8668 broad.mit.edu 37 1 32691917 32691917 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr1:32691917G>C ENST00000373586.1 + 5 468 c.396G>C c.(394-396)caG>caC p.Q132H EIF3I_ENST00000471486.1_3'UTR NM_003757.2 NP_003748.1 Q13347 EIF3I_HUMAN eukaryotic translation initiation factor 3, subunit I 132 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) ATCCGAGCCAGATTGGTGAGG 0.542000 45 41 0 0 1 0 0 IBSP 3381 broad.mit.edu 37 4 88731758 88731758 + Splice_Site SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr4:88731758G>C ENST00000226284.5 + 6 314 c.247G>C c.(247-249)Gag>Cag p.E83Q NM_004967.3 NP_004958.2 P21815 SIAL_HUMAN integrin-binding sialoprotein 83 Asp/Glu-rich (acidic).|Poly-Glu. biomineral tissue development|cell adhesion|ossification breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) TTTTTAACAGGAGACTTCAAA 0.338000 12 67 0 0 1 0 0 RFC2 5982 broad.mit.edu 37 7 73663415 73663415 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr7:73663415G>C ENST00000055077.3 - 4 319 c.259C>G c.(259-261)Ctg>Gtg p.L87V RFC2_ENST00000352131.3_Missense_Mutation_p.L87V NM_181471.1 NP_852136.1 P35250 RFC2_HUMAN replication factor C (activator 1) 2, 40kDa 87 cell cycle checkpoint|DNA strand elongation involved in DNA replication|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 DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3) 8 GCCAAGCACAGAATGCTTGTG 0.532000 15 56 0 0 1 0 0 WDR74 54663 broad.mit.edu 37 11 62603002 62603002 + Silent SNP C C A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr11:62603002C>A ENST00000525239.1 - 7 1056 c.519G>T c.(517-519)gtG>gtT p.V173V WDR74_ENST00000540620.1_5'UTR|WDR74_ENST00000525752.1_Silent_p.V116V|WDR74_ENST00000278856.4_Silent_p.V173V|WDR74_ENST00000311713.7_Silent_p.V173V|WDR74_ENST00000529106.1_Silent_p.V173V Q6RFH5 WDR74_HUMAN WD repeat domain 74 173 nucleolus kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1) 8 AGTCATTCCGCACCTGGTGGG 0.587000 28 13 2.14196e-07 2.18199e-07 1 1 0 WNK3 65267 broad.mit.edu 37 X 54264805 54264805 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chrX:54264805C>G ENST00000354646.2 - 19 4422 c.3984G>C c.(3982-3984)atG>atC p.M1328I WNK3_ENST00000375159.2_Missense_Mutation_p.M1328I|WNK3_ENST00000375169.3_Missense_Mutation_p.M1281I NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 1281 T -> I (in dbSNP:rs55879434). intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 ATGATCCACTCATCGCTTTAC 0.443000 41 9 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966385 41966385 + Missense_Mutation SNP T T C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr12:41966385T>C ENST00000298919.7 + 10 1412 c.1024T>C c.(1024-1026)Tac>Cac p.Y342H PDZRN4_ENST00000539469.2_Missense_Mutation_p.Y344H|PDZRN4_ENST00000402685.2_Missense_Mutation_p.Y602H Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 602 ubiquitin-protein ligase activity|zinc ion binding p.Y344H(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TGAACTTCAGTACAATGAGAG 0.498000 20 32 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215934 20215934 + Silent SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr14:20215934G>A ENST00000331723.1 + 1 348 c.348G>A c.(346-348)ctG>ctA p.L116L NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTTTTTGCTGACAGTCATGG 0.498000 36 34 0 0 1 0 0 C3P1 388503 broad.mit.edu 37 19 10169561 10169561 + RNA SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr19:10169561G>A ENST00000495140.1 + 0 1961 endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 AACCTTTGCCGTAGCCATAGC 0.572000 5 80 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9264799 9264799 + Missense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr12:9264799G>A ENST00000318602.7 - 4 746 c.439C>T c.(439-441)Cgt>Tgt p.R147C NM_000014.4 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin 147 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) GAGACAACACGAAATTTCACT 0.393000 4 38 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149481978 149481978 + RNA SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr7:149481978C>T ENST00000378016.2 + 0 2766 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CAGGGGCATTCTGCCCCAGGG 0.612000 19 61 0 0 1 0 0 HTR1F 3355 broad.mit.edu 37 3 88040024 88040024 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr3:88040024C>G ENST00000319595.4 + 1 179 c.125C>G c.(124-126)tCc>tGc p.S42C NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 42 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) ACTATCAACTCCCTTGTGATC 0.458000 74 83 0 0 1 0 0 CR1L 1379 broad.mit.edu 37 1 207890999 207890999 + Silent SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr1:207890999C>T ENST00000508064.2 + 11 1665 c.1605C>T c.(1603-1605)agC>agT p.S535S NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 535 Sushi 8. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 GGGTTTGGAGCAGCCCTGCCC 0.527000 18 104 0 0 1 0 0 TRAF7 84231 broad.mit.edu 37 16 2222352 2222352 + Silent SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr16:2222352C>T ENST00000326181.6 + 8 768 c.636C>T c.(634-636)ttC>ttT p.F212F NM_032271.2 NP_115647.2 Q6Q0C0 TRAF7_HUMAN TNF receptor-associated factor 7, E3 ubiquitin protein ligase 212 activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex identical protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 23 GGTGCCCCTTCACCATCAAGC 0.687000 7 26 0 0 1 0 0 FAM160B2 64760 broad.mit.edu 37 8 21960404 21960404 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr8:21960404C>G ENST00000289921.7 + 17 2240 c.2194C>G c.(2194-2196)Cgc>Ggc p.R732G NM_022749.5 NP_073586.5 Q86V87 F16B2_HUMAN family with sequence similarity 160, member B2 732 endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1) 9 ACATGATCCTCGCCAGAACGT 0.652000 10 31 0 0 1 0 0 C2orf42 54980 broad.mit.edu 37 2 70392315 70392315 + Missense_Mutation SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr2:70392315C>T ENST00000264434.2 - 8 1641 c.1262G>A c.(1261-1263)cGg>cAg p.R421Q C2orf42_ENST00000420306.1_Missense_Mutation_p.R421Q NM_017880.1 NP_060350.1 Q9NWW7 CB042_HUMAN chromosome 2 open reading frame 42 421 endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 GGCATCTTTCCGAACAAAAGC 0.338000 6 88 0 0 1 0 0 CBX4 8535 broad.mit.edu 37 17 77807809 77807809 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr17:77807809G>C ENST00000269397.4 - 5 1809 c.1632C>G c.(1630-1632)gaC>gaG p.D544E NM_003655.2 NP_003646.2 O00257 CBX4_HUMAN chromobox homolog 4 544 Interaction with RNF2. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TCGCGGTGACGTCGGTGATAA 0.627000 12 70 0 0 1 0 0 TNFSF10 8743 broad.mit.edu 37 3 172241168 172241168 + Missense_Mutation SNP T T C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr3:172241168T>C ENST00000241261.2 - 1 129 c.7A>G c.(7-9)Atg>Gtg p.M3V TNFSF10_ENST00000420541.2_Missense_Mutation_p.M3V NM_003810.3 NP_003801.1 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, member 10 3 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) ACCTCCATCATAGCCATGATC 0.527000 17 35 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296403 145296403 + Silent SNP C C T rs4996269 by1000genomes TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr1:145296403C>T ENST00000342960.5 + 3 360 c.325C>T c.(325-327)Cta>Tta p.L109L NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 109 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GCTGACCCAGCTAAGGGAGAA 0.517000 6 459 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32726670 32726670 + Missense_Mutation SNP T T G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr6:32726670T>G ENST00000435145.2 - 3 664 c.603A>C c.(601-603)caA>caC p.Q201H HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.Q201H|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.Q201H Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 201 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex p.Q201H(1) endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 GGTGCTCCACTTGGCAGGTGT 0.557000 5 114 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088903 86088903 + Missense_Mutation SNP G G T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr14:86088903G>T ENST00000330753.4 + 2 1812 c.1045G>T c.(1045-1047)Gcc>Tcc p.A349S FLRT2_ENST00000554746.1_Missense_Mutation_p.A349S NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 349 LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) CCGGGGGATGGCCGTCAGGGA 0.527000 93 63 4.21773e-46 4.57446e-46 1 1 0 NAA11 84779 broad.mit.edu 37 4 80246861 80246861 + Silent SNP C C A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr4:80246861C>A ENST00000286794.4 - 1 343 c.171G>T c.(169-171)ctG>ctT p.L57L NM_032693.2 NP_116082.1 Q9BSU3 NAA11_HUMAN N(alpha)-acetyltransferase 11, NatA catalytic subunit 57 Interaction with NAA15 (By similarity).|N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2) 23 CCATTTTGGCCAGAACATAGC 0.532000 23 145 3.6726e-16 3.81251e-16 1 1 0 FBF1 85302 broad.mit.edu 37 17 73906805 73906805 + Silent SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr17:73906805C>T ENST00000586717.1 - 29 3674 c.3401G>A c.(3400-3402)tGa>tAa p.*1134* FBF1_ENST00000389570.4_Silent_p.*1135*|FBF1_ENST00000319129.5_Silent_p.*1134*|RP11-552F3.12_ENST00000587556.1_Intron A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 0 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 GGGTCCCACTCAGGCTGAATG 0.557000 5 4 0 0 1 0 0 GML 2765 broad.mit.edu 37 8 143922583 143922583 + Silent SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr8:143922583C>T ENST00000220940.1 + 3 213 c.123C>T c.(121-123)aaC>aaT p.N41N NM_002066.2 NP_002057.1 Q99445 GML_HUMAN glycosylphosphatidylinositol anchored molecule like 41 UPAR/Ly6. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8) 18 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) ATGACTTCAACTGTCCCAACA 0.448000 23 142 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32726684 32726684 + Missense_Mutation SNP T T C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr6:32726684T>C ENST00000435145.2 - 3 650 c.589A>G c.(589-591)Atc>Gtc p.I197V HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.I197V|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.I197V Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 197 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CAGGTGTAGATGTCTCCACGC 0.567000 5 125 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111019793 111019793 + Silent SNP T T C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chrX:111019793T>C ENST00000262839.2 - 11 3588 c.2670A>G c.(2668-2670)aaA>aaG p.K890K NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 890 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 AGGCCTCTGCTTTCCCTTTCT 0.473000 43 7 0 0 1 0 0 NRP1 8829 broad.mit.edu 37 10 33515162 33515162 + Missense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr10:33515162G>A ENST00000265371.4 - 8 1562 c.1037C>T c.(1036-1038)tCa>tTa p.S346L NRP1_ENST00000374875.1_Missense_Mutation_p.S165L|NRP1_ENST00000395995.1_Missense_Mutation_p.S346L|NRP1_ENST00000374816.3_Missense_Mutation_p.S346L|NRP1_ENST00000374867.2_Missense_Mutation_p.S346L|NRP1_ENST00000374822.4_Missense_Mutation_p.S346L|NRP1_ENST00000374821.5_Missense_Mutation_p.S346L|NRP1_ENST00000374823.5_Missense_Mutation_p.S346L|NRP1_ENST00000432372.2_Missense_Mutation_p.S346L O14786 NRP1_HUMAN neuropilin 1 346 F5/8 type C 1. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) GGTTTCTTTTGAAATGGCGCC 0.483000 45 29 0 0 1 0 0 SEMA4A 64218 broad.mit.edu 37 1 156131157 156131157 + Missense_Mutation SNP G G T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr1:156131157G>T ENST00000368285.3 + 9 1098 c.831G>T c.(829-831)aaG>aaT p.K277N SEMA4A_ENST00000368286.2_Missense_Mutation_p.K145N|SEMA4A_ENST00000368282.1_Missense_Mutation_p.K277N|SEMA4A_ENST00000368284.1_Missense_Mutation_p.K145N|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000355014.2_Missense_Mutation_p.K277N NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 277 Sema. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) GCGGCGAAAAGCTGCTGCAGA 0.726000 26 24 5.61819e-17 5.86012e-17 1 1 0 ANK2 287 broad.mit.edu 37 4 114274578 114274578 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr4:114274578G>C ENST00000357077.4 + 38 4857 c.4804G>C c.(4804-4806)Gag>Cag p.E1602Q ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E1569Q NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1569 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GGAAATAGAAGAGGCTAGGCA 0.408000 54 12 0 0 1 0 0 SLC8A2 6543 broad.mit.edu 37 19 47969053 47969053 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr19:47969053G>C ENST00000236877.6 - 2 1003 c.608C>G c.(607-609)tCt>tGt p.S203C SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 203 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) GATGCTCCAAGAGGCAGTGAC 0.527000 15 21 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43307619 43307619 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr6:43307619G>C ENST00000361428.2 - 10 4194 c.4117C>G c.(4117-4119)Ctt>Gtt p.L1373V ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1373 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) AAGGTGTTAAGAGGAGCTGGC 0.478000 8 40 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr4:1803568C>G ENST00000340107.4 + 7 1002 c.746C>G c.(745-747)tCc>tGc p.S249C FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 249 S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1204)|p.R248_S249del(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.736000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 17 2 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77328940 77328940 + Silent SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr16:77328940C>T ENST00000282849.5 - 19 3304 c.2886G>A c.(2884-2886)aaG>aaA p.K962K NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 962 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TTTGGAAGGGCTTCTTTTGCA 0.542000 34 45 0 0 1 0 0 RIMS3 9783 broad.mit.edu 37 1 41107541 41107541 + Silent SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr1:41107541C>T ENST00000372684.3 - 3 526 c.57G>A c.(55-57)cgG>cgA p.R19R RIMS3_ENST00000372683.1_Silent_p.R19R NM_014747.2 NP_055562.2 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 19 neurotransmitter transport cell junction|synapse NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) TGCTGGAGCTCCGCACCACAT 0.662000 15 40 0 0 1 0 0 VSTM1 284415 broad.mit.edu 37 19 54544282 54544282 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr19:54544282G>C ENST00000338372.2 - 9 819 c.644C>G c.(643-645)tCt>tGt p.S215C VSTM1_ENST00000376626.1_Missense_Mutation_p.S184C|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000366170.2_Missense_Mutation_p.S127C NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 215 integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) AGCTGCCTCAGACAGGGCGCT 0.527000 24 32 0 0 1 0 0 MROH7-TTC4 100527960 broad.mit.edu 37 1 55172134 55172134 + Silent SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr1:55172134C>T ENST00000414150.2 + 22 3869 c.3591C>T c.(3589-3591)ttC>ttT p.F1197F MROH7_ENST00000409996.1_Silent_p.F765F|MROH7_ENST00000454855.2_Silent_p.F715F|MROH7_ENST00000421030.2_Silent_p.F1197F ACAGCGCCTTCATATTCCTCA 0.532000 7 106 0 0 1 0 0 TAP1 6890 broad.mit.edu 37 6 32821421 32821421 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr6:32821421C>G ENST00000354258.4 - 1 334 c.173G>C c.(172-174)cGa>cCa p.R58P PSMB9_ENST00000395330.1_Intron NM_000593.5 NP_000584.2 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 58 antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1) 21 CATTGGCACTCGGACGCCGTC 0.726000 22 2 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128481540 128481540 + Silent SNP C C A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr7:128481540C>A ENST00000325888.8 + 13 2301 c.2040C>A c.(2038-2040)acC>acA p.T680T FLNC_ENST00000346177.6_Silent_p.T680T NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 680 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TGGAGCCTACCGGCTGCATCG 0.627000 43 125 2.43468e-25 2.58907e-25 1 1 0 TKTL2 84076 broad.mit.edu 37 4 164394267 164394267 + Missense_Mutation SNP C C A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr4:164394267C>A ENST00000280605.3 - 1 780 c.620G>T c.(619-621)tGt>tTt p.C207F NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 207 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) AAAGGCTTCACAGCAATTCTG 0.507000 82 17 1.24819e-59 1.36736e-59 1 1 0 PTCRA 171558 broad.mit.edu 37 6 42890772 42890772 + Silent SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr6:42890772C>T ENST00000304672.1 + 2 147 c.66C>T c.(64-66)ggC>ggT p.G22G PTCRA_ENST00000441198.1_Intron|PTCRA_ENST00000446507.1_Intron NM_001243168.1|NM_138296.2 NP_001230097.1|NP_612153.2 Q6ISU1 PTCRA_HUMAN pre T-cell antigen receptor alpha 22 integral to membrane receptor activity large_intestine(2)|lung(4)|ovary(2) 8 Colorectal(47;0.196) all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) CAGGTGTGGGCGGCACACCCT 0.562000 7 25 0 0 1 0 0 ZNF496 84838 broad.mit.edu 37 1 247492647 247492647 + Silent SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr1:247492647C>T ENST00000294753.4 - 3 698 c.234G>A c.(232-234)aaG>aaA p.K78K ZNF496_ENST00000366498.2_Silent_p.K78K NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 78 SCAN box. positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) GAATCTGCTCCTTGGTGTGCC 0.711000 26 25 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120935617 120935617 + Nonsense_Mutation SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr7:120935617C>T ENST00000310396.5 + 23 3459 c.2992C>T c.(2992-2994)Cga>Tga p.R998* NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 AACAAATTTTCGATCGCCATA 0.358000 23 56 0 0 1 0 0 OPRK1 4986 broad.mit.edu 37 8 54142044 54142044 + Missense_Mutation SNP C C A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr8:54142044C>A ENST00000265572.3 - 4 1253 c.956G>T c.(955-957)gGc>gTc p.G319V OPRK1_ENST00000524278.1_Missense_Mutation_p.G230V|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.G319V NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 319 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) GTTGGTATAGCCTAAGGCGAT 0.507000 14 18 1.5842e-08 1.62139e-08 1 1 0 CLINT1 9685 broad.mit.edu 37 5 157232957 157232957 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr5:157232957G>C ENST00000523094.1 - 7 1010 c.805C>G c.(805-807)Ctt>Gtt p.L269V CLINT1_ENST00000411809.2_Missense_Mutation_p.L287V|CLINT1_ENST00000530742.1_Missense_Mutation_p.L269V|CLINT1_ENST00000296951.5_Missense_Mutation_p.L269V|CLINT1_ENST00000523908.1_Missense_Mutation_p.L287V NM_001195555.1|NM_001195556.1 NP_001182484.1|NP_001182485.1 Q14677 EPN4_HUMAN clathrin interactor 1 287 endocytosis|post-Golgi vesicle-mediated transport clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm clathrin binding|lipid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1) 21 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCTGCTCCAAGATCAATGGTT 0.483000 3 57 0 0 1 0 0 VWA3A 146177 broad.mit.edu 37 16 22155637 22155637 + Missense_Mutation SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr16:22155637C>T ENST00000389398.5 + 26 2758 c.2662C>T c.(2662-2664)Cat>Tat p.H888Y VWA3A_ENST00000389397.4_5'UTR NM_173615.3 NP_775886.3 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 888 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) CAACTGCACTCATCAAAAGTC 0.418000 13 17 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29994127 29994127 + Missense_Mutation SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr16:29994127C>T ENST00000308893.4 + 11 1947 c.904C>T c.(904-906)Cgg>Tgg p.R302W TAOK2_ENST00000543033.1_Missense_Mutation_p.R302W|TAOK2_ENST00000416441.2_Missense_Mutation_p.R129W|TAOK2_ENST00000279394.3_Missense_Mutation_p.R302W NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 302 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 GGATGCCGTGCGGGAGCTGGA 0.622000 7 41 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48581003 48581003 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr4:48581003G>C ENST00000537810.1 - 23 3119 c.2515C>G c.(2515-2517)Cag>Gag p.Q839E FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.Q839E|FRYL_ENST00000503238.1_Missense_Mutation_p.Q839E|FRYL_ENST00000358350.4_Missense_Mutation_p.Q839E O94915 FRYL_HUMAN FRY-like 839 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 ATATCGACCTGAGGGGACAAC 0.328000 5 126 0 0 1 0 0 ANKS3 124401 broad.mit.edu 37 16 4747338 4747338 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr16:4747338C>G ENST00000304283.4 - 16 2184 c.1890G>C c.(1888-1890)gaG>gaC p.E630D ANKS3_ENST00000446014.2_Missense_Mutation_p.E501D|ANKS3_ENST00000585773.1_Missense_Mutation_p.E557D NM_133450.3 NP_597707.1 Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain containing 3 630 endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 19 ACTCACCCATCTCACGGACAC 0.632000 11 51 0 0 1 0 0 SH2B3 10019 broad.mit.edu 37 12 111855990 111855990 + Missense_Mutation SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr12:111855990C>T ENST00000341259.2 + 2 398 c.41C>T c.(40-42)gCg>gTg p.A14V NM_005475.2 NP_005466.1 Q9UQQ2 SH2B3_HUMAN SH2B adaptor protein 3 14 blood coagulation cytosol signal transducer activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 10 CCCTCTTCCGCGCCCTCAGCC 0.741000 11 13 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 3 55 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121448182 121448182 + Silent SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr3:121448182C>T ENST00000393667.3 - 4 365 c.255G>A c.(253-255)gaG>gaA p.E85E GOLGB1_ENST00000472829.1_5'UTR|GOLGB1_ENST00000340645.5_Silent_p.E85E NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 85 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) CAGCTTTTCTCTCTTCCTGCC 0.294000 46 62 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35620623 35620623 + Missense_Mutation SNP T T C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr17:35620623T>C ENST00000353139.5 - 11 1775 c.1294A>G c.(1294-1296)Att>Gtt p.I432V ACACA_ENST00000360679.3_Missense_Mutation_p.I337V|ACACA_ENST00000335166.5_Missense_Mutation_p.I317V|ACACA_ENST00000394406.2_Missense_Mutation_p.I395V NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 395 ATP-grasp.|Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GGAGTAGCAATAGTAGCAGGT 0.373000 22 277 0 0 1 0 0 KRT19 3880 broad.mit.edu 37 17 39680424 39680424 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr17:39680424C>G ENST00000361566.3 - 5 979 c.919G>C c.(919-921)Gag>Cag p.E307Q NM_002276.4 NP_002267.2 keratin 19 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 12 Breast(137;0.00038) AGCTCAATCTCAAGACCCTGA 0.597000 20 21 0 0 1 0 0 KIAA0195 9772 broad.mit.edu 37 17 73488676 73488676 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr17:73488676C>G ENST00000314256.7 + 15 2112 c.1718C>G c.(1717-1719)tCc>tGc p.S573C KIAA0195_ENST00000375248.5_Missense_Mutation_p.S583C|KIAA0195_ENST00000579208.1_Missense_Mutation_p.S224C NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 573 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism p.S573Y(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TTTGATGACTCCAACTGGCAG 0.592000 20 28 0 0 1 0 0 TMEM59L 25789 broad.mit.edu 37 19 18726859 18726859 + Silent SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr19:18726859C>T ENST00000600490.1 + 5 668 c.483C>T c.(481-483)gtC>gtT p.V161V TMEM59L_ENST00000262817.3_Silent_p.V161V Q9UK28 TM59L_HUMAN transmembrane protein 59-like 161 Golgi membrane|integral to membrane|membrane fraction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2) 13 ATGACCTTGTCAACTCAGCCC 0.527000 65 57 0 0 1 0 0 TCF7 6932 broad.mit.edu 37 5 133482119 133482119 + Silent SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr5:133482119C>G ENST00000395029.1 + 11 1548 c.1353C>G c.(1351-1353)ctC>ctG p.L451L TCF7_ENST00000342854.5_3'UTR|TCF7_ENST00000395023.1_3'UTR|TCF7_ENST00000520958.1_3'UTR|TCF7_ENST00000432532.2_Silent_p.L336L|TCF7_ENST00000378560.4_3'UTR P36402 TCF7_HUMAN transcription factor 7 (T-cell specific, HMG-box) 196 cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(7)|lung(2)|skin(1) 12 Breast(839;0.058) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCACTGCTCTCAGCCTCCCAA 0.637000 OREG0016787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 0 0 0 1 0 0 NGDN 25983 broad.mit.edu 37 14 23938934 23938934 + Silent SNP C C T TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr14:23938934C>T ENST00000397154.3 + 1 23 c.10C>T c.(10-12)Ctg>Ttg p.L4L NGDN_ENST00000408901.3_Silent_p.L4L Q8NEJ9 NGDN_HUMAN neuroguidin, EIF4E binding protein 4 regulation of translation axon|cytoplasm|dendrite|filopodium|nucleus NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 12 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) GATGGCGGCGCTGGTGAGTTT 0.542000 OREG0022601 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 38 0 0 1 0 0 SHMT1 6470 broad.mit.edu 37 17 18250863 18250863 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr17:18250863C>G ENST00000316694.3 - 5 600 c.466G>C c.(466-468)Gac>Cac p.D156H SHMT1_ENST00000352886.6_Missense_Mutation_p.D156H|SHMT1_ENST00000354098.3_Missense_Mutation_p.D156H|SHMT1_ENST00000539052.1_Missense_Mutation_p.D18H NM_004169.3 NP_004160.3 P34896 GLYC_HUMAN serine hydroxymethyltransferase 1 (soluble) 156 carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process cytosol|nucleus glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1) 13 Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) TTCTTCTTGTCTGTCATGAAC 0.507000 30 78 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53677948 53677948 + Missense_Mutation SNP A A G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr12:53677948A>G ENST00000257934.4 + 17 3275 c.3184A>G c.(3184-3186)Aca>Gca p.T1062A ESPL1_ENST00000552462.1_Missense_Mutation_p.T1062A NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 1062 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 TGAGTCTTGCACAGGTGAGCA 0.502000 34 59 0 0 1 0 0 DKK2 27123 broad.mit.edu 37 4 107845255 107845255 + Silent SNP T T C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr4:107845255T>C ENST00000285311.3 - 4 1341 c.636A>G c.(634-636)gaA>gaG p.E212E DKK2_ENST00000513208.1_Silent_p.E112E|DKK2_ENST00000510463.1_Silent_p.E166E NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 212 DKK-type Cys-2. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) TGGTACAGACTTCCCCCTGAT 0.502000 13 137 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 5 29 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31815698 31815698 + Missense_Mutation SNP C C G TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr10:31815698C>G ENST00000446923.2 + 9 3224 c.2833C>G c.(2833-2835)Caa>Gaa p.Q945E ZEB1_ENST00000361642.5_Missense_Mutation_p.Q962E|ZEB1_ENST00000320985.10_Missense_Mutation_p.Q961E|ZEB1_ENST00000560721.2_Missense_Mutation_p.Q941E|ZEB1_ENST00000542815.3_Missense_Mutation_p.Q894E NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 961 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) AAAGCCCTATCAATGTGACAA 0.403000 13 31 0 0 1 0 0 EDAR 10913 broad.mit.edu 37 2 109524314 109524315 + Splice_Site INS - - C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr2:109524314_109524315insC ENST00000409271.1 - 10 1503 c.e10+1 EDAR_ENST00000258443.2_Splice_Site|EDAR_ENST00000376651.1_Splice_Site Q9UNE0 EDAR_HUMAN ectodysplasin A receptor apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 CAGGAGCCTCACCCCGGCTGAC 0.604 10 97 --- --- --- --- NAA15 80155 broad.mit.edu 37 4 140281650 140281653 + Splice_Site DEL ATAG ATAG - TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr4:140281650_140281653delATAG ENST00000296543.5 + 13 1733 c.e13-1 NAA15_ENST00000398947.1_Splice_Site NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 TGATTTCTGTATAGGAAGGAACAT 0.338 8 62 --- --- --- --- KCTD16 57528 broad.mit.edu 37 5 143853531 143853531 + Frame_Shift_Del DEL A A - TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr5:143853531delA ENST00000507359.3 + 3 2232 c.1141delA c.(1141-1143)aaafs p.K383fs KCTD16_ENST00000512467.1_Frame_Shift_Del_p.K383fs NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) CATGAGCAGCAAAAAAAAAGC 0.468 8 84 --- --- --- --- HLA-V 352962 broad.mit.edu 37 6 29760353 29760373 + RNA DEL GCGGGCGCCGTGGATGGAGCA GCGGGCGCCGTGGATGGAGCA - rs74661005 by1000genomes TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA ENST00000457107.1 + 0 223_243 GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG 0.674 5 4 --- --- --- --- BICC1 80114 broad.mit.edu 37 10 60461833 60461833 + Splice_Site DEL G G - TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr10:60461833delG ENST00000373886.3 + 3 241 c.e3-1 NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 TTTTGTTACAGATCATGGAGG 0.338 12 24 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx afc5550b-014e-421f-b15d-d71f605f7f23 ac404474-a7e1-4106-8b0b-8f32841c4402 g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)ctcdel p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 8 207 --- --- --- ---