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 ZNF365 22891 broad.mit.edu 37 10 64136259 64136259 + Missense_Mutation SNP A A T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr10:64136259A>T ENST00000395254.3 + 2 587 c.307A>T c.(307-309)Agc>Tgc p.S103C ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.S103C|ZNF365_ENST00000395255.3_Missense_Mutation_p.S103C NM_014951.2 NP_055766.2 Q70YC4 TALAN_HUMAN zinc finger protein 365 62 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) TAACTTGTACAGCATTTCACA 0.498000 75 196 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 8 425 0 0 1 0 0 ZNF500 26048 broad.mit.edu 37 16 4803036 4803036 + Missense_Mutation SNP C C T rs142409847 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr16:4803036C>T ENST00000219478.6 - 6 1083 c.784G>A c.(784-786)Ggc>Agc p.G262S ZNF500_ENST00000591026.1_5'UTR|ZNF500_ENST00000545009.1_Missense_Mutation_p.G262S O60304 ZN500_HUMAN zinc finger protein 500 262 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 21 CCATCACCGCCGTCCTCCAAC 0.587000 41 160 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123780517 123780517 + Nonsense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr12:123780517G>A ENST00000420886.2 - 31 4119 c.4120C>T c.(4120-4122)Caa>Taa p.Q1374* SBNO1_ENST00000267176.4_Nonsense_Mutation_p.Q1373*|SBNO1_ENST00000602750.1_Nonsense_Mutation_p.Q1373*|SBNO1_ENST00000602398.1_Nonsense_Mutation_p.Q1374* NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1374 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TGTTTCTGTTGGACCGCAAGC 0.438000 6 736 0 0 1 0 0 RSPH10B2 728194 broad.mit.edu 37 7 6797473 6797473 + Silent SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr7:6797473G>A ENST00000403107.1 + 2 552 c.165G>A c.(163-165)gtG>gtA p.V55V RSPH10B2_ENST00000297186.3_Silent_p.V55V|RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000433859.2_Silent_p.V55V|RSPH10B2_ENST00000404077.1_Silent_p.V55V radial spoke head 10 homolog B2 (Chlamydomonas) breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2) 15 TCAACGAAGTGAAACCCAAAA 0.453000 6 631 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241713624 241713624 + Missense_Mutation SNP T T C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:241713624T>C ENST00000498729.2 - 12 1259 c.1013A>G c.(1012-1014)tAc>tGc p.Y338C KIF1A_ENST00000320389.7_Missense_Mutation_p.Y338C NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 338 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GGTCTCATCGTAGTTGATGTC 0.572000 52 136 0 0 1 0 0 LMF2 91289 broad.mit.edu 37 22 50941833 50941833 + Missense_Mutation SNP C C T rs144342127 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr22:50941833C>T ENST00000216080.5 - 14 2204 c.2036G>A c.(2035-2037)cGg>cAg p.R679Q LMF2_ENST00000380796.3_Missense_Mutation_p.R591Q|LMF2_ENST00000474879.2_Missense_Mutation_p.R704Q Q9BU23 LMF2_HUMAN lipase maturation factor 2 704 endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTTCTTTCGCCGGGTGGTCCT 0.672000 40 112 0 0 1 0 0 PRPF39 55015 broad.mit.edu 37 14 45578898 45578898 + Missense_Mutation SNP T T C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr14:45578898T>C ENST00000355765.6 + 8 1261 c.1091T>C c.(1090-1092)aTt>aCt p.I364T NM_017922.3 NP_060392.3 Q86UA1 PRP39_HUMAN pre-mRNA processing factor 39 364 mRNA processing|RNA splicing nucleus binding breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1) 12 GAATTTGAAATTGAAAATGGG 0.333000 13 67 0 0 1 0 0 PITPNM1 9600 broad.mit.edu 37 11 67262964 67262964 + Silent SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:67262964G>A ENST00000356404.3 - 16 2652 c.2427C>T c.(2425-2427)gcC>gcT p.A809A PITPNM1_ENST00000436757.2_Silent_p.A808A|PITPNM1_ENST00000534749.1_Silent_p.A809A NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 809 DDHD. brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 GGGGGTCAGTGGCCAACTCAC 0.647000 9 27 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 6 221 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28194945 28194945 + Silent SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr22:28194945C>T ENST00000302326.4 - 1 2541 c.1587G>A c.(1585-1587)caG>caA p.Q529Q NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 529 Poly-Gln. binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 gctgctgctgctgctgctgct 0.647000 T ETV6 """AML, meningioma""" 14 18 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 12 213 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47970835 47970835 + Silent SNP C C T rs141425680 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr7:47970835C>T ENST00000289672.2 - 6 653 c.603G>A c.(601-603)gcG>gcA p.A201A NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 201 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CCACATCCTCCGCACAGCACA 0.607000 46 264 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 5 159 0 0 1 0 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31837984 31837984 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr22:31837984C>T ENST00000397525.1 - 17 2550 c.2327G>A c.(2326-2328)cGt>cAt p.R776H EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R431H|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R602H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R776H|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R752H NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 776 nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TTTGGTGTAACGGTTGGCCTG 0.507000 224 206 0 0 1 0 0 HMGN2P46 0 broad.mit.edu 37 15 45848224 45848224 + RNA SNP G G T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr15:45848224G>T ENST00000409454.1 + 0 1219 TGCAGATTTTGTTTAGCTTTT 0.318000 10 73 1.58986e-06 1.64171e-06 1 1 0 TENM4 26011 broad.mit.edu 37 11 78440582 78440582 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:78440582G>A ENST00000278550.7 - 22 3707 c.3245C>T c.(3244-3246)cCg>cTg p.P1082L NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 GGGGATGGTCGGGTGGGTGAG 0.577000 39 147 0 0 1 0 0 SALL2 6297 broad.mit.edu 37 14 21991588 21991588 + Silent SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr14:21991588C>T ENST00000327430.3 - 2 2568 c.2274G>A c.(2272-2274)ccG>ccA p.P758P SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Silent_p.P621P NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 758 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) ACTCCTCTTCCGGTGATGGCT 0.577000 33 162 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr17:7577120C>T ENST00000420246.2 - 8 950 c.818G>A c.(817-819)cGt>cAt p.R273H TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCACAAACACGCACCTCAAA 0.542000 R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 53 57 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13360637 13360637 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr3:13360637G>A ENST00000254508.5 - 39 5580 c.5498C>T c.(5497-5499)aCg>aTg p.T1833M NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1833 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) ATCCCGGGGCGTGCAGACAGT 0.637000 19 72 0 0 1 0 0 CTD-2620I22.1 0 broad.mit.edu 37 19 53473141 53473141 + RNA SNP A A G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:53473141A>G ENST00000600068.1 - 0 489 ZNF702P_ENST00000270443.4_RNA GTGAATTACAATATGTTGTGC 0.393000 5 512 0 0 1 0 0 FSHR 0 broad.mit.edu 37 2 49190190 49190190 + Missense_Mutation SNP G G T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:49190190G>T ENST00000406846.2 - 10 1889 c.1770C>A c.(1768-1770)ttC>ttA p.F590L FSHR_ENST00000304421.4_Missense_Mutation_p.F564L|FSHR_ENST00000541117.1_Missense_Mutation_p.F326L|FSHR_ENST00000346173.3_Missense_Mutation_p.F528L NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 590 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding p.F590L(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) AAATGGCAAAGAAAGAAATGG 0.532000 Gonadal Dysgenesis, 46 XX 33 103 1.30897e-18 1.36651e-18 1 1 0 TXNDC2 0 broad.mit.edu 37 18 9886894 9886894 + Missense_Mutation SNP A A G rs146821851 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr18:9886894A>G ENST00000306084.6 + 2 617 c.418A>G c.(418-420)Aaa>Gaa p.K140E TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 140 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity p.K140E(2)|p.K73E(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAAAAGCCATCCA 0.547000 7 548 0 0 1 0 0 NTNG2 84628 broad.mit.edu 37 9 135114577 135114577 + Nonsense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr9:135114577C>T ENST00000393229.3 + 6 1917 c.1141C>T c.(1141-1143)Cga>Tga p.R381* NTNG2_ENST00000360670.3_Nonsense_Mutation_p.R387*|NTNG2_ENST00000393228.4_Nonsense_Mutation_p.R373* NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 381 Laminin EGF-like 2. axonogenesis anchored to plasma membrane central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) GCACAACACGCGAGGTCAGCA 0.607000 83 169 0 0 1 0 0 OR4S2 219431 broad.mit.edu 37 11 55418398 55418398 + Missense_Mutation SNP G G A rs145635951 byFrequency TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:55418398G>A ENST00000312422.2 + 1 19 c.19G>A c.(19-21)Gta>Ata p.V7I NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) AATAAACAACGTAACTGAATT 0.313000 69 274 0 0 1 0 0 KCNG3 170850 broad.mit.edu 37 2 42671164 42671164 + Missense_Mutation SNP A A T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:42671164A>T ENST00000306078.1 - 2 1816 c.1221T>A c.(1219-1221)ttT>ttA p.F407L KCNG3_ENST00000394973.4_Missense_Mutation_p.F396L NM_133329.5|NM_172344.2 NP_579875.1|NP_758847.1 Q8TAE7 KCNG3_HUMAN potassium voltage-gated channel, subfamily G, member 3 407 endoplasmic reticulum|voltage-gated potassium channel complex protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2) 6 TATGGTAGATAAAAGTGATAG 0.398000 133 283 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940908 22940908 + Silent SNP A A G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:22940908A>G ENST00000397104.3 - 5 1529 c.1530T>C c.(1528-1530)gcT>gcC p.A510A ZNF99_ENST00000596209.1_Silent_p.A601A zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AGTGGTTAAAAGCTTTGCCAC 0.378000 74 174 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520358 33520358 + Silent SNP A A G rs74740601 by1000genomes TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr17:33520358A>G ENST00000297307.5 - 1 1054 c.969T>C c.(967-969)atT>atC p.I323I NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 323 DUF6 2. integral to membrane p.I323I(1) TCTGGGCTGTAATGATGGCAA 0.547000 5 282 0 0 1 0 0 HIST1H2BO 8348 broad.mit.edu 37 6 27861401 27861401 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr6:27861401G>A ENST00000303806.4 + 1 199 c.161G>A c.(160-162)gGc>gAc p.G54D NM_003527.4 NP_003518.2 P23527 H2B1O_HUMAN histone cluster 1, H2bo 54 nucleosome assembly nucleosome|nucleus DNA binding CCCGACACCGGCATCTCATCG 0.557000 6 670 0 0 1 0 0 PXK 54899 broad.mit.edu 37 3 58385103 58385103 + Splice_Site SNP C C G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr3:58385103C>G ENST00000463280.1 + 10 1172 c.1082_splice c.e10+1 p.P361_splice PXK_ENST00000356151.2_Splice_Site_p.P394_splice|PXK_ENST00000383716.3_Splice_Site_p.P361_splice|PXK_ENST00000302779.5_Splice_Site_p.P377_splice|PXK_ENST00000479241.1_Splice_Site_p.P377_splice|PXK_ENST00000536660.1_Splice_Site_p.P257_splice|PXK_ENST00000484288.1_Splice_Site_p.P394_splice|PXK_ENST00000383715.4_Splice_Site_p.P377_splice Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 394 Protein kinase. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) CTTACAGATGCCGTAAGTCAA 0.448000 46 180 0 0 1 0 0 ZNF554 115196 broad.mit.edu 37 19 2834140 2834140 + Nonsense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:2834140C>T ENST00000317243.5 + 5 1105 c.907C>T c.(907-909)Cag>Tag p.Q303* ZNF554_ENST00000591265.1_3'UTR NM_001102651.1 NP_001096121.1 Q86TJ5 ZN554_HUMAN zinc finger protein 554 303 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAAAATGGGCAGTCATTGAA 0.478000 118 289 0 0 1 0 0 ZNF786 136051 broad.mit.edu 37 7 148767872 148767872 + Silent SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr7:148767872G>A ENST00000316286.9 - 3 2006 c.1734C>T c.(1732-1734)atC>atT p.I578I ZNF786_ENST00000491431.1_Silent_p.I664I|ZNF786_ENST00000451334.3_Silent_p.I627I Q8N393 ZN786_HUMAN zinc finger protein 786 664 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TGATGTGCTCGATGAGCTTTG 0.582000 9 536 0 0 1 0 0 OR2T6 254879 broad.mit.edu 37 1 248551551 248551551 + Silent SNP G G C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:248551551G>C ENST00000355728.2 + 1 642 c.642G>C c.(640-642)gtG>gtC p.V214V NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCTCGGTGGTGACTGCATCCT 0.537000 11 337 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 88946299 88946299 + Silent SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr14:88946299G>A ENST00000556564.1 - 13 1760 c.1476C>T c.(1474-1476)agC>agT p.S492S PTPN21_ENST00000328736.3_Silent_p.S492S NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 492 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TCTCGGGCTGGCTGTAGACCA 0.677000 5 263 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 66878849 66878849 + Missense_Mutation SNP T T A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr13:66878849T>A ENST00000544246.1 - 5 4343 c.3652A>T c.(3652-3654)Aat>Tat p.N1218Y PCDH9_ENST00000456367.1_Missense_Mutation_p.N1184Y|PCDH9_ENST00000377865.2_Missense_Mutation_p.N1218Y|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.N1184Y NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 1218 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GACTTCAGATTTGCCAGAGGA 0.438000 44 285 0 0 1 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43828112 43828112 + Silent SNP A A G rs150656228 by1000genomes TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr9:43828112A>G ENST00000377564.3 + 9 1761 c.1368A>G c.(1366-1368)gtA>gtG p.V456V NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 456 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 GGCACTCTGTATCCTTCTCTG 0.458000 4 68 0 0 1 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629156 1629156 + Missense_Mutation SNP T T A rs75371407 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:1629156T>A ENST00000399685.1 - 1 537 c.460A>T c.(460-462)Agc>Tgc p.S154C NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 154 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) TGGGAGCAGCTGGGCTTGCAG 0.627000 7 966 0 0 1 0 0 ITGB2 3689 broad.mit.edu 37 21 46306690 46306690 + Silent SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr21:46306690C>T ENST00000397850.2 - 16 2660 c.2208G>A c.(2206-2208)agG>agA p.R736R ITGB2_ENST00000355153.4_Silent_p.R736R|ITGB2_ENST00000397852.1_Silent_p.R736R|ITGB2_ENST00000302347.5_Silent_p.R736R|ITGB2_ENST00000397857.1_Silent_p.R736R|ITGB2_ENST00000397854.3_Silent_p.R679R P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 736 apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) TCTCAAAGCGCCTGTACTCCC 0.617000 71 186 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520392 33520392 + Missense_Mutation SNP G G C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr17:33520392G>C ENST00000297307.5 - 1 1020 c.935C>G c.(934-936)gCg>gGg p.A312G NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 312 DUF6 2. integral to membrane p.A312G(4) AACCCCTGCCGCCACGATGTC 0.567000 5 421 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70866926 70866926 + Missense_Mutation SNP C C A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr16:70866926C>A ENST00000393567.2 - 80 13874 c.13724G>T c.(13723-13725)aGc>aTc p.S4575I NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4575 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TTCTTCTGGGCTAATGGAGAA 0.408000 27 85 4.92203e-23 5.16677e-23 1 1 0 ADAD2 161931 broad.mit.edu 37 16 84228145 84228145 + Silent SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr16:84228145G>A ENST00000268624.3 + 3 825 c.732G>A c.(730-732)gcG>gcA p.A244A RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|ADAD2_ENST00000315906.5_Silent_p.A172A NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 172 RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 AGCAGGCAGCGCTCTCTGCCC 0.642000 36 31 0 0 1 0 0 STXBP4 252983 broad.mit.edu 37 17 53158469 53158469 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr17:53158469C>T ENST00000376352.2 + 16 1621 c.1414C>T c.(1414-1416)Cgt>Tgt p.R472C STXBP4_ENST00000434978.2_Missense_Mutation_p.R450C NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 472 cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 AAGGAATGGACGTAGCATCCC 0.398000 67 160 0 0 1 0 0 WFDC10A 140832 broad.mit.edu 37 20 44258532 44258532 + Missense_Mutation SNP A A T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr20:44258532A>T ENST00000372643.3 + 1 368 c.80A>T c.(79-81)aAg>aTg p.K27M WFDC9_ENST00000326000.1_Intron NM_080753.2 NP_542791.1 Q9H1F0 WF10A_HUMAN WAP four-disulfide core domain 10A 27 extracellular region serine-type endopeptidase inhibitor activity large_intestine(2) 2 Myeloproliferative disorder(115;0.0122) CGTGACAAGAAGAGGATGCAG 0.587000 OREG0025983 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 164 0 0 1 0 0 ZSCAN21 7589 broad.mit.edu 37 7 99654807 99654807 + Nonsense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr7:99654807C>T ENST00000292450.4 + 2 342 c.178C>T c.(178-180)Cga>Tga p.R60* ZSCAN21_ENST00000456748.2_Nonsense_Mutation_p.R60*|ZSCAN21_ENST00000543588.1_Nonsense_Mutation_p.R60*|ZSCAN21_ENST00000477297.1_3'UTR NM_145914.2 NP_666019.1 Q9Y5A6 ZSC21_HUMAN zinc finger and SCAN domain containing 21 60 SCAN box. positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1) 21 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) CCCTGGACCCCGAGAGGCCCT 0.577000 105 319 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 12 255 0 0 1 0 0 FGF7 2252 broad.mit.edu 37 15 49776634 49776634 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr15:49776634C>T ENST00000267843.4 + 4 1129 c.518C>T c.(517-519)cCt>cTt p.P173L FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron NM_002009.3 NP_002000.1 P21781 FGF7_HUMAN fibroblast growth factor 7 173 actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth chemoattractant activity|growth factor activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_lung(180;0.00391) all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05) Palifermin(DB00039) AAGGGGATTCCTGTAAGAGGA 0.363000 5 146 0 0 1 0 0 CKAP2 0 broad.mit.edu 37 13 53035900 53035900 + Silent SNP A A G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr13:53035900A>G ENST00000378037.5 + 4 1032 c.942A>G c.(940-942)ctA>ctG p.L314L CKAP2_ENST00000378034.3_Silent_p.L313L|CKAP2_ENST00000490903.1_Silent_p.L265L|CKAP2_ENST00000258607.5_Silent_p.L313L NM_001098525.1|NM_018204.3 NP_001091995.1|NP_060674.3 Q8WWK9 CKAP2_HUMAN cytoskeleton associated protein 2 314 apoptosis|cell cycle centrosome|microtubule|spindle pole breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1) 20 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) ATAAGACTCTATCAAGATCCA 0.388000 8 596 0 0 1 0 0 BCKDHA 593 broad.mit.edu 37 19 41916889 41916889 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:41916889G>A ENST00000269980.2 + 3 718 c.350G>A c.(349-351)cGc>cAc p.R117H CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.R151H|BCKDHA_ENST00000457836.2_Missense_Mutation_p.R95H|BCKDHA_ENST00000595085.1_Missense_Mutation_p.R151H NM_000709.3|NM_001164783.1 NP_000700.1|NP_001158255.1 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha polypeptide 117 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 10 ACCATGGACCGCATCCTCTAT 0.587000 7 966 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197112823 197112823 + Silent SNP T T G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:197112823T>G ENST00000367409.4 - 3 815 c.559A>C c.(559-561)Aga>Cga p.R187R ASPM_ENST00000294732.7_Silent_p.R187R NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 187 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CTCCTAACTCTGTCAACTTTT 0.343000 160 241 0 0 1 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138749667 138749667 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr7:138749667G>A ENST00000242351.5 - 8 2267 c.1951C>T c.(1951-1953)Cca>Tca p.P651S ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P651S|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P773S NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 651 WWE. response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 GCCTGAAATGGCACAACTCCC 0.453000 5 439 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195410687 195410687 + RNA SNP T T A rs6583274 by1000genomes TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr3:195410687T>A ENST00000445430.1 + 0 1884 CCCTTTGAGGTGCACTGGAGG 0.567000 7 77 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 5 117 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16945566 16945566 + RNA SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:16945566C>T ENST00000412962.1 - 0 1953 TCTCTGACAGCGCCATCTTCT 0.622000 273 1517 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681979 100681979 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr7:100681979G>A ENST00000306151.4 + 3 7346 c.7282G>A c.(7282-7284)Gtc>Atc p.V2428I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2428 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAGCACACCTGTCACCACTTC 0.517000 9 1775 0 0 1 0 0 TCERG1L 256536 broad.mit.edu 37 10 133058648 133058648 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr10:133058648C>T ENST00000368642.4 - 4 815 c.730G>A c.(730-732)Gcc>Acc p.A244T NM_174937.3 NP_777597.2 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 244 Poly-Ala. cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) gcagcggcggcggcggtggcg 0.662000 7 33 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117914339 117914339 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr12:117914339G>A ENST00000425217.1 - 17 2479 c.2425C>T c.(2425-2427)Cgc>Tgc p.R809C KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.R838C NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 838 Protein kinase. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GACAGCTGGCGGATGATCTCT 0.582000 11 41 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625908 29625908 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr20:29625908G>A ENST00000278882.3 + 5 532 c.152G>A c.(151-153)gGt>gAt p.G51D FRG1B_ENST00000358464.4_Missense_Mutation_p.G51D|FRG1B_ENST00000439954.2_Missense_Mutation_p.G56D endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AAATATCTTGGTATAAATTCA 0.323000 7 544 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784468 82784468 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr7:82784468C>T ENST00000423517.2 - 2 1826 c.1489G>A c.(1489-1491)Gca>Aca p.A497T PCLO_ENST00000333891.8_Missense_Mutation_p.A497T NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 443 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGGGGCTTTGCTGAGCCAGGC 0.612000 10 744 0 0 1 0 0 KRTAP5-7 440050 broad.mit.edu 37 11 71238580 71238580 + Silent SNP C C T rs12271719 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:71238580C>T ENST00000398536.4 + 1 268 c.234C>T c.(232-234)ggC>ggT p.G78G NM_001012503.1 NP_001012521.1 Q6L8G8 KRA57_HUMAN keratin associated protein 5-7 78 7 X 4 AA repeats of C-C-X-P. keratin filament breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1) 12 GGGGCTGTGGCTCTTGTGGGG 0.642000 6 815 0 0 1 0 0 CCDC105 126402 broad.mit.edu 37 19 15131402 15131402 + Nonsense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:15131402C>T ENST00000292574.3 + 3 887 c.805C>T c.(805-807)Cga>Tga p.R269* NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 269 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 GAACCTCTCCCGAGCCCCCAC 0.597000 35 106 0 0 1 0 0 SEMA3A 10371 broad.mit.edu 37 7 83764207 83764207 + Missense_Mutation SNP T T C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr7:83764207T>C ENST00000265362.3 - 2 487 c.173A>G c.(172-174)cAt>cGt p.H58R SEMA3A_ENST00000436949.1_Missense_Mutation_p.H58R NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 58 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 AAGGAAGGTATGATAACTGGA 0.388000 143 183 0 0 1 0 0 RSPH6A 81492 broad.mit.edu 37 19 46307741 46307741 + Silent SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:46307741C>T ENST00000221538.3 - 3 1564 c.1422G>A c.(1420-1422)ccG>ccA p.P474P RSPH6A_ENST00000597055.1_Silent_p.P474P|RSPH6A_ENST00000600188.1_Silent_p.P210P NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 474 intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 CCTCGTTGCCCGGGAAGGGTG 0.632000 54 329 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210574822 210574822 + Silent SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:210574822G>A ENST00000360351.4 + 12 5423 c.4917G>A c.(4915-4917)ccG>ccA p.P1639P MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000447185.1_Silent_p.P1635P|MAP2_ENST00000361559.4_Silent_p.P283P|MAP2_ENST00000199940.6_Silent_p.P340P|MAP2_ENST00000392194.1_Silent_p.P283P NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1639 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TCTTGGTGCCGAGTGAGAAGA 0.542000 5 264 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021474 132021474 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:132021474C>T ENST00000356920.5 + 15 2540 c.2446C>T c.(2446-2448)Cgc>Tgc p.R816C POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 816 Actin-like. ATP binding p.R816C(1) CAAGGCCAACCGCGAGAAGAT 0.612000 115 390 0 0 1 0 0 AQP4 361 broad.mit.edu 37 18 24436417 24436417 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr18:24436417C>T ENST00000383168.4 - 5 858 c.730G>A c.(730-732)Gct>Act p.A244T AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000440832.3_Missense_Mutation_p.A222T|AQP4_ENST00000581374.1_Missense_Mutation_p.A222T NM_001650.4|NM_004028.3 NP_001641.1|NP_004019.1 P55087 AQP4_HUMAN aquaporin 4 244 cellular response to interferon-gamma|excretion|nervous system development cytoplasm|external side of plasma membrane|integral to plasma membrane water channel activity kidney(2)|large_intestine(3)|lung(5)|skin(1) 11 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) AGGCCACCAGCGAGGACAGCT 0.433000 91 233 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr17:21730847G>T ENST00000584755.1 + 2 546 c.149G>T c.(148-150)cGg>cTg p.R50L UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCGGGAAGATGGC 0.522000 4 159 0.00116845 0.00118719 1 1 0 LINC00969 0 broad.mit.edu 37 3 195410640 195410640 + RNA SNP T T C rs6583273 by1000genomes TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr3:195410640T>C ENST00000445430.1 + 0 1837 TTGATGAGTATGATCACTCCA 0.468000 4 71 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25466782 25466782 + Splice_Site SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr13:25466782G>A ENST00000381884.4 - 10 3400 c.3216_splice c.e10+1 p.A1072_splice CENPJ_ENST00000545981.1_Splice_Site_p.A1072_splice NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 1072 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) CCTGCCTACCGCAAGCTTGTC 0.522000 84 400 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120959317 120959317 + Missense_Mutation SNP C C A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr3:120959317C>A ENST00000273666.6 + 14 1634 c.1363C>A c.(1363-1365)Ctt>Att p.L455I STXBP5L_ENST00000497029.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.L455I NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 455 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AGCTTGGAACCTTGGAGCACA 0.323000 6 300 0.0293803 0.0293803 1 1 0 OR4F6 390648 broad.mit.edu 37 15 102345944 102345944 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr15:102345944G>A ENST00000328882.4 + 1 43 c.22G>A c.(22-24)Gtg>Atg p.V8M NM_001005326.1 NP_001005326.1 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, member 6 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) CAATCACTCTGTGGTCTCTGA 0.473000 86 232 0 0 1 0 0 LCE2C 353140 broad.mit.edu 37 1 152648628 152648628 + Missense_Mutation SNP C C A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:152648628C>A ENST00000368783.1 + 2 192 c.137C>A c.(136-138)tCt>tAt p.S46Y LCE2B_ENST00000417924.2_Intron NM_178429.2 NP_848516.1 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 46 Cys-rich. keratinization endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 13 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCAGTCTCTTCTTGCTGTGGT 0.627000 190 857 7.09894e-72 7.57752e-72 1 1 0 TXNDC2 0 broad.mit.edu 37 18 9887074 9887074 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr18:9887074G>A ENST00000306084.6 + 2 797 c.598G>A c.(598-600)Gaa>Aaa p.E200K TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K|TXNDC2_ENST00000536353.2_Intron NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 200 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAGAAGCCATCCA 0.577000 11 680 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248112943 248112943 + Silent SNP A A C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:248112943A>C ENST00000357191.3 + 1 784 c.784A>C c.(784-786)Aga>Cga p.R262R OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TCTACGTCCAAGATCCCTGCG 0.483000 81 291 0 0 1 0 0 TRH 7200 broad.mit.edu 37 3 129696025 129696025 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr3:129696025G>A ENST00000302649.3 + 3 1222 c.695G>A c.(694-696)cGg>cAg p.R232Q TRH_ENST00000507066.1_Missense_Mutation_p.R228Q NM_007117.3 NP_009048.1 P20396 TRH_HUMAN thyrotropin-releasing hormone 232 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 14 CCTGGTCGGCGGGCAGCCTGG 0.617000 38 151 0 0 1 0 0 DHRS2 10202 broad.mit.edu 37 14 24108419 24108419 + Missense_Mutation SNP C C T rs74036809 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr14:24108419C>T ENST00000250383.6 + 3 648 c.172C>T c.(172-174)Cgg>Tgg p.R58W DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.R58W NM_005794.3 NP_005785.1 Q13268 DHRS2_HUMAN dehydrogenase/reductase (SDR family) member 2 36 L -> V (in Ref. 6; AA sequence). C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00659) ACGTCTGGCCCGGGACGGGGC 0.642000 156 577 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52023419 52023419 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:52023419C>T ENST00000346477.3 - 7 1299 c.1231G>A c.(1231-1233)Gct>Act p.A411T SIGLEC6_ENST00000425629.3_Missense_Mutation_p.A427T|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.A375T|SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000343300.4_3'UTR|CTD-3073N11.9_ENST00000598220.1_RNA NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 427 cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) TGTAGGACAGCGTAGTGGAGC 0.507000 503 572 0 0 1 0 0 NPHS2 7827 broad.mit.edu 37 1 179530445 179530445 + Missense_Mutation SNP G G T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:179530445G>T ENST00000367615.4 - 3 498 c.430C>A c.(430-432)Cct>Act p.P144T NPHS2_ENST00000367616.4_Missense_Mutation_p.P144T NM_014625.2 NP_055440.1 Q9NP85 PODO_HUMAN nephrosis 2, idiopathic, steroid-resistant (podocin) 144 excretion integral to plasma membrane protein binding NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 20 GCTCTTCCAGGAAGCAGATGT 0.373000 364 538 1.84265e-150 1.97799e-150 1 1 0 OR2L2 26246 broad.mit.edu 37 1 248202362 248202362 + Nonsense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:248202362C>T ENST00000366479.2 + 1 889 c.793C>T c.(793-795)Cga>Tga p.R265* OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) AAGATCCCTGCGATCTCCAAC 0.498000 91 336 0 0 1 0 0 SH3TC2 79628 broad.mit.edu 37 5 148424197 148424197 + Missense_Mutation SNP A A T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr5:148424197A>T ENST00000515425.1 - 4 385 c.284T>A c.(283-285)cTc>cAc p.L95H SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.L95H NM_024577.3 NP_078853.2 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 95 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTTGCTGAGAGGTCCTACGT 0.438000 87 78 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 6 547 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082565 152082565 + Missense_Mutation SNP A A C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:152082565A>C ENST00000368804.1 - 2 3127 c.3128T>G c.(3127-3129)cTc>cGc p.L1043R NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1043 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding p.L1043R(1) NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCGCTCCTGGAGTCTTCTTTT 0.592000 11 1116 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481789 142481789 + RNA SNP T T C rs140267598 by1000genomes TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr7:142481789T>C ENST00000603901.1 + 0 468 NR_001296.3 ACTACCCAGATGAGCTGCAGT 0.488000 9 617 0 0 1 0 0 GUCY2D 3000 broad.mit.edu 37 17 7917216 7917216 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr17:7917216G>A ENST00000254854.4 + 12 2432 c.2282G>A c.(2281-2283)cGg>cAg p.R761Q NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 761 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) CAGAGGGTGCGGAGCCCCCCT 0.622000 6 370 0 0 1 0 0 SPRR3 6707 broad.mit.edu 37 1 152975691 152975691 + Silent SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:152975691C>T ENST00000331860.3 + 3 345 c.195C>T c.(193-195)ggC>ggT p.G65G SPRR3_ENST00000542696.1_Silent_p.G65G|SPRR3_ENST00000295367.4_Silent_p.G65G NM_005416.2 NP_005407.1 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 65 14 X 8 AA approximate tandem repeats. Missing (in Ref. 2; no nucleotide entry, 4; CAB65098 and 9; AAH17802). keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CTGAGCCAGGCTGTACCAAGG 0.557000 7 273 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 5 195 0 0 1 0 0 PTPN13 0 broad.mit.edu 37 4 87622708 87622708 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr4:87622708G>A ENST00000436978.1 + 7 1429 c.949G>A c.(949-951)Gag>Aag p.E317K PTPN13_ENST00000316707.6_Missense_Mutation_p.E317K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E317K|PTPN13_ENST00000411767.2_Missense_Mutation_p.E317K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E317K NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 317 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) CTCTTCAGGAGAGACTGCCAC 0.458000 68 158 0 0 1 0 0 ZNF585A 199704 broad.mit.edu 37 19 37644404 37644404 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:37644404C>T ENST00000356958.4 - 5 655 c.397G>A c.(397-399)Gcc>Acc p.A133T ZNF585A_ENST00000292841.5_Missense_Mutation_p.A78T|ZNF585A_ENST00000355533.2_Missense_Mutation_p.A78T|ZNF585A_ENST00000392157.2_Missense_Mutation_p.A78T|ZNF585A_ENST00000588723.1_Intron Q6P3V2 Z585A_HUMAN zinc finger protein 585A 133 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCAAATTTGGCGCATTCATAA 0.383000 6 877 0 0 1 0 0 ZFAT 57623 broad.mit.edu 37 8 135614834 135614834 + Silent SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr8:135614834C>T ENST00000520727.1 - 7 1391 c.1092G>A c.(1090-1092)gcG>gcA p.A364A ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000377838.3_Silent_p.A376A|ZFAT_ENST00000520214.1_Silent_p.A364A NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 376 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GTGGGTCATGCGCGTCTCGGA 0.552000 5 304 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 14 254 0 0 1 0 0 C10orf90 118611 broad.mit.edu 37 10 128147738 128147738 + Translation_Start_Site SNP G G A rs139123090 byFrequency TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr10:128147738G>A ENST00000480379.1 - 0 367 C10orf90_ENST00000356858.3_Missense_Mutation_p.R543W|C10orf90_ENST00000544758.1_Missense_Mutation_p.R687W|C10orf90_ENST00000284694.7_Missense_Mutation_p.R590W|C10orf90_ENST00000454341.1_Missense_Mutation_p.R493W Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) TTCTTCAGCCGTTCTTGTGAG 0.498000 108 282 0 0 1 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19501393 19501393 + Nonsense_Mutation SNP G G T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr12:19501393G>T ENST00000538714.1 + 21 2639 c.2635G>T c.(2635-2637)Gaa>Taa p.E879* PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.E803*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.E579*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.E884*|PLEKHA5_ENST00000299275.6_Nonsense_Mutation_p.E821*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.E810*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.E879*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.E987* NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 821 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) AGAAGTTGATGAATCTAATGG 0.348000 5 301 8.12818e-05 8.30298e-05 1 1 0 SCN5A 6331 broad.mit.edu 37 3 38662392 38662392 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr3:38662392C>T ENST00000413689.1 - 5 746 c.553G>A c.(553-555)Gcg>Acg p.A185T SCN5A_ENST00000455624.2_Missense_Mutation_p.A185T|SCN5A_ENST00000451551.2_Missense_Mutation_p.A185T|SCN5A_ENST00000333535.4_Missense_Mutation_p.A185T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A185T|SCN5A_ENST00000450102.2_Missense_Mutation_p.A185T|SCN5A_ENST00000443581.1_Missense_Mutation_p.A185T|SCN5A_ENST00000425664.1_Missense_Mutation_p.A185T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A185T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A185T NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 185 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) AAAGTGAACGCGTGCAGGCAG 0.527000 22 83 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179455980 179455980 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:179455980C>T ENST00000589042.1 - 304 60696 c.60472G>A c.(60472-60474)Ggt>Agt p.G20158S TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G17590S|TTN_ENST00000342175.6_Missense_Mutation_p.G11285S|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G18517S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G11218S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G11093S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18517 Fibronectin type-III 46. 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) GTTTTGCTACCGGCTGCATTG 0.418000 201 593 0 0 1 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30873750 30873750 + Missense_Mutation SNP G G C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr12:30873750G>C ENST00000251071.5 - 12 2893 c.2143C>G c.(2143-2145)Cct>Gct p.P715A CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.P715A|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P715A|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P382A NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 715 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TTTACCTCAGGAGTCTCTGAG 0.373000 7 313 0 0 1 0 0 ETS1 2113 broad.mit.edu 37 11 128391808 128391808 + Splice_Site SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:128391808C>T ENST00000345075.4 - 1 397 c.82_splice c.e1+1 p.D28_splice ETS1_ENST00000319397.5_Splice_Site_p.D28_splice|ETS1_ENST00000392668.3_Intron|ETS1_ENST00000535549.1_Splice_Site_p.G28_splice|ETS1_ENST00000526145.1_Splice_Site_p.D28_splice|ETS1_ENST00000531611.1_Splice_Site_p.D28_splice P14921 ETS1_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 1 28 cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3) 35 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) CGCCACTCACCCGGGGAGGGG 0.652000 131 193 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160501166 160501166 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr6:160501166G>A ENST00000356956.1 + 39 5840 c.5692G>A c.(5692-5694)Gat>Aat p.D1898N NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1898 Fibronectin type-II. receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) TCCAGAAACCGATGACGGCGT 0.532000 117 321 0 0 1 0 0 CACNA1F 778 broad.mit.edu 37 X 49063557 49063557 + Missense_Mutation SNP G G C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chrX:49063557G>C ENST00000376265.2 - 44 5234 c.5173C>G c.(5173-5175)Ctc>Gtc p.L1725V CACNA1F_ENST00000376251.1_Missense_Mutation_p.L1660V|CACNA1F_ENST00000323022.5_Missense_Mutation_p.L1714V NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1725 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) GTGAAAATGAGAGCCCCAGAG 0.547000 16 5 0 0 1 0 0 CEACAM4 1089 broad.mit.edu 37 19 42132119 42132119 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:42132119C>T ENST00000221954.2 - 2 390 c.280G>A c.(280-282)Gca>Aca p.A94T CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T NM_001817.2 NP_001808.2 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion molecule 4 94 Ig-like V-type. integral to plasma membrane|membrane fraction p.A94T(1) NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1) 16 CCACTGTATGCGGCCCCTGGG 0.488000 8 987 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231120208 231120208 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:231120208C>T ENST00000392045.3 + 12 1315 c.1201C>T c.(1201-1203)Cgc>Tgc p.R401C SP140_ENST00000486687.2_Missense_Mutation_p.R325C|SP140_ENST00000343805.6_Missense_Mutation_p.R341C|SP140_ENST00000417495.3_Missense_Mutation_p.R287C|SP140_ENST00000420434.3_Intron|SP140_ENST00000350136.5_Missense_Mutation_p.R270C NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 401 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TGGAGAAGAGCGCCAGGAAGC 0.527000 57 204 0 0 1 0 0 CDC25A 993 broad.mit.edu 37 3 48219349 48219349 + Missense_Mutation SNP G G T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr3:48219349G>T ENST00000302506.3 - 7 1087 c.679C>A c.(679-681)Ctg>Atg p.L227M CDC25A_ENST00000351231.3_Missense_Mutation_p.L187M NM_001789.2 NP_001780.2 P30304 MPIP1_HUMAN cell division cycle 25A 227 cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) GGTACCTTCAGATTCTCTCCA 0.448000 481 635 3.58181e-153 3.86673e-153 1 1 0 TYROBP 7305 broad.mit.edu 37 19 36399086 36399086 + Silent SNP G G T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:36399086G>T ENST00000585901.2 - 1 63 c.45C>A c.(43-45)ctC>ctA p.L15L TYROBP_ENST00000424586.3_Silent_p.L15L|TYROBP_ENST00000262629.4_Silent_p.L15L|TYROBP_ENST00000589517.1_Silent_p.L15L|TYROBP_ENST00000544690.2_Silent_p.L15L O43914 TYOBP_HUMAN TYRO protein tyrosine kinase binding protein 15 axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response integral to plasma membrane|intracellular identical protein binding|receptor signaling protein activity NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1) 8 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CAGCCAGCAGGAGAGGCAGGA 0.657000 7 180 0.00307968 0.00309597 1 1 0 GPR125 166647 broad.mit.edu 37 4 22390725 22390725 + Silent SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr4:22390725C>T ENST00000334304.5 - 18 2978 c.2709G>A c.(2707-2709)cgG>cgA p.R903R GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 903 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity p.R903R(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) GTGCGTTTGGCCGACTGCCGT 0.418000 8 1141 0 0 1 0 0 C17orf97 400566 broad.mit.edu 37 17 263636 263636 + Silent SNP C C T rs71369083 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr17:263636C>T ENST00000360127.6 + 2 1018 c.1002C>T c.(1000-1002)ggC>ggT p.G334G AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 364 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. p.G334G(4) breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 CCCTCAAGGGCTTCCACCCCG 0.697000 9 167 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28194939 28194939 + Silent SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr22:28194939C>T ENST00000302326.4 - 1 2547 c.1593G>A c.(1591-1593)caG>caA p.Q531Q NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 531 Poly-Gln. binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 gctgttgctgctgctgctgct 0.652000 T ETV6 """AML, meningioma""" 10 18 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75248343 75248343 + Missense_Mutation SNP A A G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr14:75248343A>G ENST00000325680.7 + 4 1721 c.1597A>G c.(1597-1599)Atg>Gtg p.M533V YLPM1_ENST00000552421.1_Missense_Mutation_p.M533V|YLPM1_ENST00000238571.3_Intron NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) TCTACCTACAATGCCCCCTCC 0.527000 11 701 0 0 1 0 0 TMEM198 130612 broad.mit.edu 37 2 220409474 220409474 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:220409474C>T ENST00000344458.2 + 3 610 c.25C>T c.(25-27)Cgg>Tgg p.R9W TMEM198_ENST00000373883.3_Missense_Mutation_p.R9W Q66K66 TM198_HUMAN transmembrane protein 198 9 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 16 Renal(207;0.0376) Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GGCAACACTGCGGTTCCAGCT 0.617000 57 197 0 0 1 0 0 PLEKHA4 0 broad.mit.edu 37 19 49362745 49362745 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:49362745G>A ENST00000263265.6 - 7 1228 c.673C>T c.(673-675)Cgg>Tgg p.R225W PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R225W NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 225 Pro-rich. cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) CTCGCCCTCCGCATCTGGAGT 0.637000 181 149 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4772146 4772146 + Silent SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:4772146G>A ENST00000378191.4 + 2 597 c.216G>A c.(214-216)gcG>gcA p.A72A AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Silent_p.A72A NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 72 cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane p.A72A(1) endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) GACAGCCAGCGCGGGTCCCGG 0.771000 32 78 0 0 1 0 0 FGFR1 2260 broad.mit.edu 37 8 38275843 38275843 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr8:38275843G>A ENST00000447712.2 - 10 2274 c.1333C>T c.(1333-1335)Cgg>Tgg p.R445W FGFR1_ENST00000425967.3_Missense_Mutation_p.R476W|FGFR1_ENST00000397091.5_Missense_Mutation_p.R443W|FGFR1_ENST00000397103.1_Missense_Mutation_p.R356W|FGFR1_ENST00000397108.4_Missense_Mutation_p.R443W|FGFR1_ENST00000397113.2_Missense_Mutation_p.R443W|FGFR1_ENST00000356207.5_Missense_Mutation_p.R356W|FGFR1_ENST00000341462.5_Missense_Mutation_p.R445W|FGFR1_ENST00000335922.5_Missense_Mutation_p.R435W|FGFR1_ENST00000326324.6_Missense_Mutation_p.R354W|FGFR1_ENST00000532791.1_Missense_Mutation_p.R443W NM_001174063.1|NM_015850.3|NM_023110.2 NP_001167534.1|NP_056934.2|NP_075598.2 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 445 axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity p.R445W(3)|p.R435W(1) FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) CGTGATGGCCGAACCAGAAGA 0.607000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 7 892 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128689 152128689 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:152128689C>T ENST00000316073.3 - 3 950 c.886G>A c.(886-888)Ggt>Agt p.G296S NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 296 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TCCGTCTGACCGTAGTGGGAA 0.498000 10 2346 0 0 1 0 0 REG1P 0 broad.mit.edu 37 2 79365058 79365058 + RNA SNP G G T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:79365058G>T ENST00000444841.1 - 0 166 CAGGGCTGGGGTTGTGGGAGG 0.483000 17 46 4.7546e-09 4.93647e-09 1 1 0 NBPF20 100288142 broad.mit.edu 37 1 148346684 148346684 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:148346684G>A ENST00000369202.1 - 2 270 c.73C>T c.(73-75)Cgc>Tgc p.R25C NBPF20_ENST00000414710.2_Missense_Mutation_p.R25C neuroblastoma breakpoint family, member 20 p.R25C(1) breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 27 AACTGGGGGCGCAATTTCTCG 0.507000 7 1166 0 0 1 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131797606 131797606 + Silent SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:131797606C>T ENST00000392953.3 + 7 1284 c.765C>T c.(763-765)gaC>gaT p.D255D ARHGEF4_ENST00000355771.3_Silent_p.D184D|ARHGEF4_ENST00000525839.1_Silent_p.D255D|ARHGEF4_ENST00000409303.1_Silent_p.D255D|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000326016.5_Silent_p.D255D|ARHGEF4_ENST00000428230.2_Intron NM_032995.1 NP_127462.1 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 255 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) TGAATCAGGACGAGCCCGCGG 0.731000 3 15 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966931 41966931 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr12:41966931G>A ENST00000298919.7 + 10 1958 c.1570G>A c.(1570-1572)Gga>Aga p.G524R PDZRN4_ENST00000402685.2_Missense_Mutation_p.G784R|PDZRN4_ENST00000539469.2_Missense_Mutation_p.G526R Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 784 ubiquitin-protein ligase activity|zinc ion binding p.G526R(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) GTCCTCTTCCGGACAGAGCAG 0.512000 5 577 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53855452 53855452 + Silent SNP A A G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:53855452A>G ENST00000458035.1 + 4 1641 c.1524A>G c.(1522-1524)tcA>tcG p.S508S ZNF845_ENST00000595091.1_Silent_p.S508S NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 508 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GTTTCAAATCAAACCTTGAAA 0.388000 8 397 0 0 1 0 0 SESTD1 91404 broad.mit.edu 37 2 180014068 180014068 + Missense_Mutation SNP C C G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:180014068C>G ENST00000428443.3 - 7 853 c.537G>C c.(535-537)ttG>ttC p.L179F NM_178123.4 NP_835224.3 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 179 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) CATTGTTAATCAAAGCAAGTT 0.294000 19 87 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 8 202 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10951332 10951332 + Missense_Mutation SNP C C T rs113140892 byFrequency TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr21:10951332C>T ENST00000298232.7 - 9 693 c.326G>A c.(325-327)cGt>cAt p.R109H TPTE_ENST00000361285.4_Missense_Mutation_p.R127H|TPTE_ENST00000342420.5_Missense_Mutation_p.R89H|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 127 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R109H(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGAAATAGAACGATACTCCAA 0.338000 67 654 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371692 109371692 + Missense_Mutation SNP T T C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:109371692T>C ENST00000283195.6 + 17 2569 c.2443T>C c.(2443-2445)Tgc>Cgc p.C815R NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 815 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GAAAATGATTTGCCAACAAGT 0.348000 7 710 0 0 1 0 0 GPR26 2849 broad.mit.edu 37 10 125426411 125426411 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr10:125426411C>T ENST00000284674.1 + 1 541 c.488C>T c.(487-489)cCa>cTa p.P163L NM_153442.3 NP_703143.1 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 163 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) AGCCGGCGGCCAGACGAGCGC 0.682000 15 66 0 0 1 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43828154 43828154 + Silent SNP T T C rs140150445 by1000genomes TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr9:43828154T>C ENST00000377564.3 + 9 1803 c.1410T>C c.(1408-1410)gaT>gaC p.D470D NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 470 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 TGGTGGTGGATGATGACACAG 0.488000 4 62 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1893097 1893097 + Silent SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:1893097G>A ENST00000399161.2 - 16 3183 c.2436C>T c.(2434-2436)ggC>ggT p.G812G MYT1L_ENST00000428368.2_Silent_p.G810G NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 812 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) AGTCGCCCTCGCCCAGCTGGA 0.582000 77 209 0 0 1 0 0 SGSM1 129049 broad.mit.edu 37 22 25294015 25294015 + Missense_Mutation SNP A A G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr22:25294015A>G ENST00000400358.4 + 19 2156 c.2099A>G c.(2098-2100)aAt>aGt p.N700S SGSM1_ENST00000400359.4_Missense_Mutation_p.N755S NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 755 Rab-GAP TBC. Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 AAGATCCCCAATGGGAACCTA 0.552000 68 61 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 101 89 3.0332e-58 3.2196e-58 1 1 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 7 238 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 8 32 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62295897 62295897 + Silent SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:62295897G>A ENST00000378024.4 - 5 6266 c.5992C>T c.(5992-5994)Ctg>Ttg p.L1998L AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1998 nervous system development nucleus protein binding p.L1998L(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GGGCCTTTCAGGTGTAAGTCC 0.483000 7 1634 0 0 1 0 0 SNX29P2 0 broad.mit.edu 37 16 29376089 29376089 + RNA SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr16:29376089C>T ENST00000398878.3 + 0 1517 SNX29P2_ENST00000507381.1_RNA p.S125F(1) GAGCAGAACTCTGGGGACATG 0.453000 7 267 0 0 1 0 0 CHDC2 286464 broad.mit.edu 37 X 36090000 36090000 + Silent SNP T T C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chrX:36090000T>C ENST00000378660.1 + 3 290 c.102T>C c.(100-102)gcT>gcC p.A34A CHDC2_ENST00000313548.4_Silent_p.A34A calponin homology domain containing 2 ACCAGGATGCTAAACCACCCT 0.378000 48 46 0 0 1 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52149092 52149092 + Missense_Mutation SNP C C T rs111981406 by1000genomes TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:52149092C>T ENST00000360844.6 - 3 684 c.643G>A c.(643-645)Gtg>Atg p.V215M SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron NM_001098612.1 NP_001092082.1 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 215 Ig-like C2-type 1. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding p.V215M(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) TGGCGTTTCACCTGACAGGTG 0.647000 5 339 0 0 1 0 0 GRIA4 0 broad.mit.edu 37 11 105836750 105836750 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:105836750G>A ENST00000393127.2 + 15 2817 c.2371G>A c.(2371-2373)Gac>Aac p.D791N GRIA4_ENST00000530497.1_Intron|GRIA4_ENST00000525187.1_Missense_Mutation_p.D791N|GRIA4_ENST00000282499.5_Intron|GRIA4_ENST00000533094.1_3'UTR NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 791 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity p.D791N(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) ATGGTGGTACGACAAAGGAGA 0.418000 68 105 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50462047 50462047 + Missense_Mutation SNP A A C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:50462047A>C ENST00000447370.2 - 7 1306 c.1216T>G c.(1216-1218)Tgg>Ggg p.W406G SIGLEC11_ENST00000426971.2_Missense_Mutation_p.W406G NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 406 Ig-like C2-type 3. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) GTCTGTCCCCACCGGGTCCAG 0.682000 7 406 0 0 1 0 0 PIF1 80119 broad.mit.edu 37 15 65116102 65116102 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr15:65116102G>A ENST00000268043.4 - 2 527 c.433C>T c.(433-435)Cgc>Tgc p.R145C PIF1_ENST00000559239.1_Missense_Mutation_p.R145C|PIF1_ENST00000333425.6_Missense_Mutation_p.R145C Q9H611 PIF1_HUMAN PIF1 5'-to-3' DNA helicase 145 negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding kidney(1)|lung(1) 2 ACGAAGTCGCGGGGCCGCGGG 0.761000 15 29 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 3 49 0 0 1 0 0 PRMT8 56341 broad.mit.edu 37 12 3701463 3701463 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr12:3701463G>A ENST00000382622.3 + 9 1436 c.1046G>A c.(1045-1047)cGg>cAg p.R349Q PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.R340Q NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 349 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity p.R349Q(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CTCACTGTCCGGAGGGGGGAG 0.542000 5 488 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120776148 120776148 + Silent SNP C C T rs144767530 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:120776148C>T ENST00000527524.2 + 13 1709 c.1422C>T c.(1420-1422)ggC>ggT p.G474G GRIK4_ENST00000438375.2_Silent_p.G474G Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 474 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.G474G(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) GCGTGTACGGCGTTCCCGAGG 0.612000 244 361 0 0 1 0 0 KY 339855 broad.mit.edu 37 3 134322916 134322916 + Silent SNP G G A rs142832129 by1000genomes TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr3:134322916G>A ENST00000508956.1 - 10 1485 c.1428C>T c.(1426-1428)caC>caT p.H476H KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.H497H Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 497 cytoskeleton|Z disc peptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2) 21 CATCATCCCCGTGGAGGGAAG 0.617000 24 96 0 0 1 0 0 MS4A1 931 broad.mit.edu 37 11 60235849 60235849 + Nonsense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:60235849C>T ENST00000534668.1 + 7 1091 c.802C>T c.(802-804)Caa>Taa p.Q268* MS4A1_ENST00000532073.1_Nonsense_Mutation_p.Q255*|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.Q268*|MS4A1_ENST00000528313.1_Nonsense_Mutation_p.Q101*|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.Q268* NM_152866.2 NP_690605.1 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 1 268 B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) TATTCCAATCCAAGAAGAGGA 0.373000 52 199 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 13 238 0 0 1 0 0 GPR153 387509 broad.mit.edu 37 1 6313858 6313858 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:6313858C>T ENST00000377893.2 - 3 965 c.706G>A c.(706-708)Gcc>Acc p.A236T NM_207370.2 NP_997253.2 Q6NV75 GP153_HUMAN G protein-coupled receptor 153 236 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1) 14 Ovarian(185;0.0634) all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246) GAGGTTTTGGCGGGCTCCGAG 0.677000 6 201 0 0 1 0 0 OR14A16 284532 broad.mit.edu 37 1 247978702 247978702 + Silent SNP C C A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:247978702C>A ENST00000357627.1 - 1 329 c.330G>T c.(328-330)ctG>ctT p.L110L NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 TGAGGAGGAGCAGCTCTGCAG 0.468000 69 300 4.83814e-26 5.10692e-26 1 1 0 SLC7A2 6542 broad.mit.edu 37 8 17409385 17409385 + Silent SNP G G A rs141741899 byFrequency TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr8:17409385G>A ENST00000470360.1 + 8 1182 c.1065G>A c.(1063-1065)ccG>ccA p.P355P SLC7A2_ENST00000398090.3_Silent_p.P355P|SLC7A2_ENST00000494857.1_Silent_p.P315P|SLC7A2_ENST00000522656.1_Silent_p.P315P|SLC7A2_ENST00000004531.10_Silent_p.P355P P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 315 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) TTATGATGCCGTACTACCTCC 0.483000 5 398 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40395919 40395919 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:40395919G>A ENST00000221347.6 - 15 7485 c.7478C>T c.(7477-7479)gCc>gTc p.A2493V NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 2493 VWFD 6. extracellular region protein binding p.A2493V(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CTGCAGGACGGCAAACCGATG 0.627000 8 1039 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:55035844T>C ENST00000417545.2 + 4 660 c.574T>C c.(574-576)Tac>Cac p.Y192H NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 176 intracellular zinc ion binding p.Y192H(11)|p.Y176H(11) endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGACATATTATACAGGTGAGT 0.338000 5 336 0 0 1 0 0 MRPL45 84311 broad.mit.edu 37 17 36478035 36478035 + Silent SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr17:36478035C>T ENST00000312513.5 + 7 848 c.687C>T c.(685-687)ggC>ggT p.G229G NM_032351.4 NP_115727.4 Q9BRJ2 RM45_HUMAN mitochondrial ribosomal protein L45 229 intracellular protein transport|translation mitochondrial inner membrane presequence translocase complex|ribosome P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 13 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) ACCGGTTTGGCCGGTTGATGT 0.438000 5 417 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71500186 71500186 + Missense_Mutation SNP T T G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr14:71500186T>G ENST00000304743.2 + 17 4045 c.3599T>G c.(3598-3600)aTt>aGt p.I1200S PCNX_ENST00000238570.5_Missense_Mutation_p.I1200S|PCNX_ENST00000439984.3_Missense_Mutation_p.I1089S NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1200 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CTTTTCTCCATTTTTTGTGGT 0.338000 82 295 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 11 33 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 43996133 43996133 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr22:43996133C>T ENST00000262726.7 - 23 2945 c.2692G>A c.(2692-2694)Gag>Aag p.E898K EFCAB6_ENST00000396231.2_Missense_Mutation_p.E746K NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 898 EF-hand 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding p.E898K(1) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) CCTTTTCCCTCGGTGTCGTAT 0.428000 138 406 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082606 152082606 + Silent SNP T T C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:152082606T>C ENST00000368804.1 - 2 3086 c.3087A>G c.(3085-3087)gaA>gaG p.E1029E NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1029 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGCTCTTCTTCCTGCTGCA 0.582000 8 1098 0 0 1 0 0 FPR1 2357 broad.mit.edu 37 19 52249584 52249584 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:52249584C>T ENST00000595042.1 - 3 805 c.664G>A c.(664-666)Ggg>Agg p.G222R FPR1_ENST00000304748.4_Missense_Mutation_p.G222R NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 222 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) GCAATAAGCCCATAACTGACA 0.517000 249 274 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175365844 175365844 + Missense_Mutation SNP T T A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:175365844T>A ENST00000367674.1 - 5 1784 c.1076A>T c.(1075-1077)tAc>tTc p.Y359F TNR_ENST00000263525.2_Missense_Mutation_p.Y359F NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 359 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CGTCGGCTGGTAAGAGATCAC 0.617000 96 384 0 0 1 0 0 DUOXA2 405753 broad.mit.edu 37 15 45410081 45410081 + Missense_Mutation SNP T T G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr15:45410081T>G ENST00000323030.5 + 6 1222 c.937T>G c.(937-939)Tta>Gta p.L313V DUOXA1_ENST00000559014.1_Intron|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000267803.4_Intron|DUOXA1_ENST00000430224.2_Intron NM_207581.3 NP_997464.2 Q1HG44 DOXA2_HUMAN dual oxidase maturation factor 2 313 protein transport endoplasmic reticulum membrane|integral to membrane all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659) TCTCCCAGACTTAAAATGTAT 0.627000 OREG0023102 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 116 277 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 7 267 0 0 1 0 0 FEM1B 10116 broad.mit.edu 37 15 68583276 68583276 + Missense_Mutation SNP C C T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr15:68583276C>T ENST00000306917.4 + 2 2195 c.1580C>T c.(1579-1581)gCc>gTc p.A527V NM_015322.3 NP_056137.1 Q9UK73 FEM1B_HUMAN fem-1 homolog b (C. elegans) 527 apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity cytoplasm|nucleus death receptor binding|ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 GAGGTGAATGCCGTGGACAAT 0.463000 5 516 0 0 1 0 0 MYL9 10398 broad.mit.edu 37 20 35177521 35177521 + Missense_Mutation SNP A A G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr20:35177521A>G ENST00000279022.2 + 4 492 c.388A>G c.(388-390)Atg>Gtg p.M130V MYL9_ENST00000346786.2_Missense_Mutation_p.M76V|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA NM_006097.4 NP_006088.2 P24844 MYL9_HUMAN myosin, light chain 9, regulatory 130 EF-hand 2. axon guidance|muscle contraction|regulation of muscle contraction cytosol|muscle myosin complex calcium ion binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(3)|lung(2) 8 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) GCTCACCACCATGGGTGACCG 0.577000 111 199 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 5 393 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62296070 62296070 + Missense_Mutation SNP A A G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:62296070A>G ENST00000378024.4 - 5 6093 c.5819T>C c.(5818-5820)gTg>gCg p.V1940A AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1940 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CGACACATCCACATCCCCTTT 0.502000 8 1171 0 0 1 0 0 GGCX 2677 broad.mit.edu 37 2 85779621 85779621 + Missense_Mutation SNP G G A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:85779621G>A ENST00000233838.3 - 10 1437 c.1357C>T c.(1357-1359)Cgc>Tgc p.R453C GGCX_ENST00000430215.3_Missense_Mutation_p.R396C|GGCX_ENST00000473665.1_5'UTR NM_000821.5 NP_000812.2 P38435 VKGC_HUMAN gamma-glutamyl carboxylase 453 blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) GGAAGCAGGCGGCTCAGGCAA 0.522000 OREG0014747 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 149 342 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 7 534 0 0 1 0 0 WRAP73 49856 broad.mit.edu 37 1 3549997 3549998 + Frame_Shift_Ins INS - - C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:3549997_3549998insC ENST00000378322.3 - 9 944_945 c.886_887insG c.(886-888)cggfs p.R296fs WRAP73_ENST00000270708.7_Frame_Shift_Ins_p.R296fs Q9P2S5 WRP73_HUMAN WD repeat containing, antisense to TP73 296 centrosome protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1) 12 gccggccccggcccggggcggc 0.569 8 256 --- --- --- --- VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 8 779 --- --- --- --- SPEN 23013 broad.mit.edu 37 1 16255142 16255143 + Frame_Shift_Del DEL GA GA - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:16255142_16255143delGA ENST00000375759.3 + 11 2611_2612 c.2407_2408delGA c.(2407-2409)gfs p.E803fs NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 803 Arg-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GGAGAGAGTGGAGAGAGAGAGA 0.431 8 569 --- --- --- --- CROCCP2 0 broad.mit.edu 37 1 16959732 16959733 + RNA INS - - GGGCCTGCAGCA rs12063740 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:16959732_16959733insGGGCCTGCAGCA ENST00000412962.1 - 0 74 CTCCTCCAGCTGGGCCTGCTTC 0.668 13 104 --- --- --- --- MST1L 0 broad.mit.edu 37 1 17084791 17084791 + RNA DEL A A - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:17084791delA ENST00000455405.2 - 0 228 GGCCCTGCCTAGAGGAGTGGG 0.582 10 131 --- --- --- --- PADI6 353238 broad.mit.edu 37 1 17723476 17723477 + RNA INS - - CA rs67024576 by1000genomes TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:17723476_17723477insCA ENST00000434762.2 + 0 1669 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) AGGAATGCACCCAGGTGGCTGG 0.629 24 22 --- --- --- --- EXTL1 2134 broad.mit.edu 37 1 26349533 26349535 + In_Frame_Del DEL CCT CCT - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:26349533_26349535delCCT ENST00000374280.3 + 1 1263_1265 c.396_398delCCT c.(394-399)tgc>tg p.CL132del NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 132 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CTGGGGCCTGCCTCCTCCTCCTC 0.606 9 299 --- --- --- --- B4GALT2 8704 broad.mit.edu 37 1 44447007 44447009 + In_Frame_Del DEL AGC AGC - rs72406230 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:44447007_44447009delAGC ENST00000356836.6 + 2 965_967 c.175_177delAGC c.(175-177)del p.S65del B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del NM_001005417.2|NM_030587.2 NP_001005417.1|NP_085076.2 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 65 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) CCCAGCTGCTagcagcagcagca 0.685 7 392 --- --- --- --- PVRL4 81607 broad.mit.edu 37 1 161044057 161044059 + In_Frame_Del DEL CAC CAC - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:161044057_161044059delCAC ENST00000368012.3 - 6 1407_1409 c.1105_1107delGTG c.(1105-1107)del p.V369del PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 369 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GGGACATGAGCACCACCACCACC 0.571 8 725 --- --- --- --- LMX1A 4009 broad.mit.edu 37 1 165177332 165177334 + In_Frame_Del DEL TGC TGC - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:165177332_165177334delTGC ENST00000342310.3 - 7 1165_1167 c.783_785delGCA c.(781-786)caa>ca p.QQ261del LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 261 Gln-rich.|Poly-Gln. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CTGCTGATCTTGCTGCTGCTGCT 0.567 13 236 --- --- --- --- POU2F1 5451 broad.mit.edu 37 1 167385016 167385018 + In_Frame_Del DEL CCA CCA - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:167385016_167385018delCCA ENST00000367862.5 + 16 2472_2474 c.2237_2239delCCA c.(2236-2241)tcc>t p.ST746del POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 734 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 GGGGCTGCGTCCACCACCACCAC 0.601 7 983 --- --- --- --- MIA3 375056 broad.mit.edu 37 1 222838734 222838735 + Frame_Shift_Ins INS - - G TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:222838734_222838735insG ENST00000344922.5 + 28 5522_5523 c.5497_5498insG c.(5497-5499)gggfs p.G1833fs MIA3_ENST00000344441.6_Frame_Shift_Ins_p.G1833fs|MIA3_ENST00000340535.7_Frame_Shift_Ins_p.G711fs|MIA3_ENST00000344507.1_Intron NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1833 Pro-rich. exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding p.R1833L(1) breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) TCTCCACCCTCGGGGATTTTTA 0.515 7 1516 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 9 421 --- --- --- --- SMC6 79677 broad.mit.edu 37 2 17898126 17898126 + Frame_Shift_Del DEL T T - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr2:17898126delT ENST00000448223.2 - 14 1497 c.1228delA c.(1228-1230)tafs p.I410fs SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 410 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACCAAGATATTTTTTTTTGT 0.343 11 205 --- --- --- --- XPC 7508 broad.mit.edu 37 3 14219966 14219968 + Splice_Site DEL CCT CCT - rs72561774 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr3:14219966_14219968delCCT ENST00000285021.7 - 1 315_317 c.103_splice c.e1+1 p.ED34_splice LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Splice_Site_p.ED34_splice NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 34 Glu-rich (acidic).|Poly-Glu. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding p.E34delE(1) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCGCTCTCACCCTCCTCCTCCTC 0.734 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 7 361 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 11 1062 --- --- --- --- SLCO2A1 6578 broad.mit.edu 37 3 133670082 133670083 + Frame_Shift_Ins INS - - A rs141736851 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr3:133670082_133670083insA ENST00000310926.4 - 6 1103_1104 c.830_831insT c.(829-831)tttfs p.F277fs SLCO2A1_ENST00000493729.1_Frame_Shift_Ins_p.F201fs NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 277 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 CTCGAGGGAAGAAAAAAAAGGG 0.490 7 577 --- --- --- --- DVL3 1857 broad.mit.edu 37 3 183887876 183887876 + Frame_Shift_Del DEL G G - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr3:183887876delG ENST00000313143.3 + 14 1829 c.1581delG c.(1579-1581)ccfs p.P527fs DVL3_ENST00000431765.1_Frame_Shift_Del_p.P510fs|EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 527 canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) TGCCGCACCCGGGGGCCGCCC 0.682 7 494 --- --- --- --- TMEM41A 90407 broad.mit.edu 37 3 185212517 185212518 + Frame_Shift_Ins INS - - A rs150885877 byFrequency TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr3:185212517_185212518insA ENST00000421852.1 - 4 562_563 c.467_468insT c.(466-468)tttfs p.F156fs TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR NM_080652.3 NP_542383.1 Q96HV5 TM41A_HUMAN transmembrane protein 41A 156 integral to membrane large_intestine(1)|lung(2)|skin(1) 4 all_cancers(143;7.78e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AAAACAATAAGAAAAAAAACAA 0.446 7 880 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123250 81123252 + In_Frame_Del DEL CAG CAG - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr4:81123250_81123252delCAG ENST00000339711.4 + 10 1865_1867 c.634_636delCAG c.(634-636)del p.Q217del PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 217 Gly-rich.|Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 tggcaaagaccagcagcagcagc 0.655 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 198 --- --- --- --- ADAD1 132612 broad.mit.edu 37 4 123302211 123302211 + Frame_Shift_Del DEL A A - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr4:123302211delA ENST00000296513.2 + 4 422 c.237delA c.(235-237)ccfs p.P79fs ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 79 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCCTTCCTCCAAAAAAAATAC 0.358 7 359 --- --- --- --- PROP1 5626 broad.mit.edu 37 5 177419902 177419904 + In_Frame_Del DEL TGG TGG - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr5:177419902_177419904delTGG ENST00000308304.2 - 3 795_797 c.487_489delCCA c.(487-489)del p.P163del NM_006261.4 NP_006252.3 O75360 PROP1_HUMAN PROP paired-like homeobox 1 163 central nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(9)|stomach(1) 13 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGCAGGTCACTGGTGGTGGTGGT 0.596 7 137 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32523273 32523274 + RNA DEL GA GA - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr6:32523273_32523274delGA ENST00000411500.1 - 0 458 NR_001298.1 ATTCCACTGTGAGAGGGCTCAT 0.396 16 56 --- --- --- --- NOX3 50508 broad.mit.edu 37 6 155743925 155743926 + Frame_Shift_Del DEL CA CA - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr6:155743925_155743926delCA ENST00000159060.2 - 10 1312_1313 c.1210_1211delTG c.(1210-1212)cfs p.C404fs NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 404 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CGCGGCAACGCACACACACACT 0.530 8 583 --- --- --- --- BBS9 27241 broad.mit.edu 37 7 33312723 33312723 + Frame_Shift_Del DEL T T - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr7:33312723delT ENST00000242067.6 + 8 1323 c.802delT c.(802-804)ttfs p.F269fs BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs|BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 269 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TGAGAGAAACTTTTTTTGCCT 0.393 Bardet-Biedl syndrome 7 805 --- --- --- --- POU6F2 11281 broad.mit.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr7:39379288_39379290delCAG ENST00000518318.2 + 5 601_603 c.559_561delCAG c.(559-561)del p.Q196del POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000517348.1_3'UTR P78424 PO6F2_HUMAN POU class 6 homeobox 2 196 Gln-rich. Q -> QQ (in Ref. 1; AAB49727/AAB49728). central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 gctccagctccagcagcagcagc 0.616 8 114 --- --- --- --- TRBV6-6 0 broad.mit.edu 37 7 142162268 142162268 + RNA DEL G G - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr7:142162268delG ENST00000390371.3 - 0 93 CCAATGGAAAGGGGCTGGGCC 0.567 7 361 --- --- --- --- RBM33 155435 broad.mit.edu 37 7 155531073 155531074 + Frame_Shift_Del DEL CA CA - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr7:155531073_155531074delCA ENST00000401878.3 + 11 1911_1912 c.1713_1714delCA c.(1711-1716)cccafs p.PT571fs NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 571 Pro-rich. nucleotide binding|RNA binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) CGTTTCTGCCCACACACACACA 0.530 9 315 --- --- --- --- C5 727 broad.mit.edu 37 9 123785771 123785772 + Frame_Shift_Ins INS - - T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr9:123785771_123785772insT ENST00000223642.1 - 10 1055_1056 c.1026_1027insA c.(1024-1029)atctggfs p.W343fs NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 343 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) TTGATGCCAGGTATTTCTGCCT 0.411 180 179 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61828745 61828747 + In_Frame_Del DEL GTG GTG - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr10:61828745_61828747delGTG ENST00000280772.1 - 37 12083_12085 c.11892_11894delCAC c.(11890-11895)act>ac p.TT3964del ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3964 Thr-rich. 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 ggtggtggcagtggtggtggtgg 0.498 7 371 --- --- --- --- FADS2 9415 broad.mit.edu 37 11 61607885 61607887 + In_Frame_Del DEL TCC TCC - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:61607885_61607887delTCC ENST00000278840.4 + 3 1028_1030 c.398_400delTCC c.(397-402)ttc>t p.FL133del FADS2_ENST00000522056.1_In_Frame_Del_p.FL102del|FADS2_ENST00000521849.1_In_Frame_Del_p.FL133del|FADS2_ENST00000257261.6_In_Frame_Del_p.FL111del NM_004265.2 NP_004256.1 O95864 FADS2_HUMAN fatty acid desaturase 2 133 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) CACGTGTTCTTCCTCCTCCTCCT 0.537 8 836 --- --- --- --- INTS5 80789 broad.mit.edu 37 11 62416219 62416221 + In_Frame_Del DEL GCA GCA - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:62416219_62416221delGCA ENST00000330574.2 - 2 1383_1385 c.1331_1333delTGC c.(1330-1335)cac>c p.LH444del NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 444 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 TTTTGCAGGTGCAGCAGCAGCAG 0.621 7 332 --- --- --- --- MYO7A 4647 broad.mit.edu 37 11 76873960 76873961 + Frame_Shift_Ins INS - - C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:76873960_76873961insC ENST00000409709.3 + 14 1888_1889 c.1616_1617insC c.(1615-1617)accfs p.T539fs MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.T539fs|MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.T539fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.T528fs NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 539 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity p.K542fs*80(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GCCAACTACATCCCCCCCAAGA 0.564 7 789 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89407177 89407177 + RNA DEL C C - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:89407177delC ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTTTTTTTTTCCCCAATCTGG 0.303 7 157 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:108788635_108788637delTGA ENST00000526794.1 + 17 2372_2374 c.2340_2342delTGA c.(2338-2343)agt>ag p.SD780del DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 780 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.355 T NUP98 AML* 7 356 --- --- --- --- PVRL1 5818 broad.mit.edu 37 11 119535678 119535680 + In_Frame_Del DEL CCT CCT - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr11:119535678_119535680delCCT ENST00000264025.3 - 6 1861_1863 c.1331_1333delAGG c.(1330-1335)ggc>g p.EG444del PVRL1_ENST00000341398.2_Intron NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 444 Poly-Glu. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity p.E444fs*>73(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCTCCACCGCcctcctcctcctc 0.660 8 165 --- --- --- --- DNM1L 10059 broad.mit.edu 37 12 32861115 32861117 + In_Frame_Del DEL AAG AAG - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr12:32861115_32861117delAAG ENST00000452533.2 + 4 490_492 c.326_328delAAG c.(325-330)caa>c p.QE109del DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000553257.1_In_Frame_Del_p.QE122del|DNM1L_ENST00000547312.1_In_Frame_Del_p.QE109del|DNM1L_ENST00000266481.6_In_Frame_Del_p.QE109del|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000549701.1_In_Frame_Del_p.QE109del|DNM1L_ENST00000381000.4_In_Frame_Del_p.QE122del|DNM1L_ENST00000358214.5_In_Frame_Del_p.QE122del NM_012062.3|NM_012063.2 NP_036192.2|NP_036193.2 O00429 DNM1L_HUMAN dynamin 1-like 109 GTPase domain. cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 23 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) GAAATTCGACAAGAAATTGAAAA 0.291 77 103 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 7 608 --- --- --- --- ZFC3H1 196441 broad.mit.edu 37 12 72057256 72057258 + In_Frame_Del DEL GCT GCT - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr12:72057256_72057258delGCT ENST00000378743.3 - 1 491_493 c.133_135delAGC c.(133-135)del p.S45del THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 45 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GCCCGCCGCCGCTGCTGCTGCTG 0.631 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 482 --- --- --- --- HVCN1 84329 broad.mit.edu 37 12 111099110 111099112 + In_Frame_Del DEL CTC CTC - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr12:111099110_111099112delCTC ENST00000356742.5 - 3 916_918 c.163_165delGAG c.(163-165)del p.E55del HVCN1_ENST00000548312.1_In_Frame_Del_p.E55del|HVCN1_ENST00000242607.8_In_Frame_Del_p.E55del|HVCN1_ENST00000439744.2_In_Frame_Del_p.E35del Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 55 Poly-Glu. response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 19 GTGGTGGCTGctcctcctcctcc 0.606 7 239 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr12:121134166_121134168delGAA ENST00000228506.3 + 5 1125_1127 c.697_699delGAA c.(697-699)del p.E238del MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 238 Poly-Glu. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.E233E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gaaagaagaggaagaagaagaag 0.458 9 572 --- --- --- --- ZMYM5 9205 broad.mit.edu 37 13 20426143 20426145 + In_Frame_Del DEL CAT CAT - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr13:20426143_20426145delCAT ENST00000337963.4 - 3 440_442 c.176_178delATG c.(175-180)gtt>g p.DV59del ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 59 Poly-Asp. nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) ATAAACACAAcatcatcatcatc 0.379 7 427 --- --- --- --- ZIC2 7546 broad.mit.edu 37 13 100635008 100635010 + In_Frame_Del DEL CCA CCA - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr13:100635008_100635010delCCA ENST00000376335.3 + 1 983_985 c.690_692delCCA c.(688-693)gcc>gc p.AH230del NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 230 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAGCCGCGGCccaccaccaccac 0.621 11 300 --- --- --- --- MIS18BP1 55320 broad.mit.edu 37 14 45693722 45693722 + Frame_Shift_Del DEL T T - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr14:45693722delT ENST00000310806.4 - 11 2526 c.2068delA c.(2068-2070)gtfs p.S690fs NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 690 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 CTGATGGGACTTTTTTTTTGA 0.373 16 530 --- --- --- --- IGHV3-21 0 broad.mit.edu 37 14 106691799 106691801 + RNA DEL ACT ACT - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr14:106691799_106691801delACT ENST00000390607.2 - 0 301_303 AGTATATGTAACTACTACTACTA 0.517 7 1278 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23331163 23331163 + RNA DEL A A - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr15:23331163delA ENST00000560464.1 - 0 908 AATAAATACTAAAAAAAAAAA 0.368 9 42 --- --- --- --- UBE2Q2P1 0 broad.mit.edu 37 15 85077360 85077360 + RNA DEL A A - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr15:85077360delA ENST00000339094.1 - 0 1678 NR_003661.2 tttttaaactaaaaaaaaaaa 0.373 18 24 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974509 93974510 + RNA DEL TC TC - rs57286078 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr15:93974509_93974510delTC ENST00000543286.1 + 0 545 TTGGCTGGGTTCtttttttttt 0.431 8 121 --- --- --- --- RP11-1166P10.8 0 broad.mit.edu 37 16 32126912 32126912 + RNA DEL A A - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr16:32126912delA ENST00000564145.1 - 0 456 TATTTTGCCCACCCGCCGCCG 0.602 17 19 --- --- --- --- ANKRD11 29123 broad.mit.edu 37 16 89349640 89349641 + Frame_Shift_Ins INS - - T TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr16:89349640_89349641insT ENST00000301030.4 - 9 3769_3770 c.3309_3310insA c.(3307-3312)aaatgafs p.*1104fs ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.*1104fs NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1104 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TTCTTGTCATCTTTTTTTTCAG 0.465 11 729 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7801857 7801859 + In_Frame_Del DEL AAG AAG - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr17:7801857_7801859delAAG ENST00000380358.4 + 13 2273_2275 c.2272_2274delAAG c.(2272-2274)del p.K762del CHD3_ENST00000330494.7_In_Frame_Del_p.K703del|CHD3_ENST00000358181.4_In_Frame_Del_p.K703del NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 703 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CCGCAAGTATAAGAAGAAGAAGA 0.488 8 274 --- --- --- --- SMCR7 0 broad.mit.edu 37 17 18167778 18167780 + In_Frame_Del DEL GCT GCT - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr17:18167778_18167780delGCT ENST00000323019.4 + 4 1276_1278 c.1065_1067delGCT c.(1063-1068)cgg>cg p.RL355del SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del|SMCR7_ENST00000395704.4_3'UTR NM_001144900.1|NM_139162.3 NP_001138372.1|NP_631901.2 Q96C03 SMCR7_HUMAN 355 integral to membrane protein binding p.L356R(1) breast(1)|central_nervous_system(1)|endometrium(3)|lung(4) 9 all_neural(463;0.228) CTCGCCGGCGGCTGCTGCTGCTG 0.685 9 346 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056605 56056607 + In_Frame_Del DEL TGC TGC - rs61731354 byFrequency TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr17:56056605_56056607delTGC ENST00000584396.1 - 5 1105_1107 c.1017_1019delGCA c.(1015-1020)caa>ca p.QQ343del VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 352 Poly-Gln. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 ttgttgttgttgctgctgctgct 0.463 7 752 --- --- --- --- RBBP8 5932 broad.mit.edu 37 18 20572852 20572853 + Frame_Shift_Ins INS - - A TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr18:20572852_20572853insA ENST00000399722.2 + 11 1413_1414 c.1062_1063insA c.(1060-1065)ggaaaafs p.GK354fs RBBP8_ENST00000399725.2_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000360790.5_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000327155.5_Frame_Shift_Ins_p.GK354fs NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 354 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity p.K357fs*3(2)|p.K355E(2)|p.G354G(2) central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) TACAGCCTGGGAAAAAAAAACA 0.361 Homologous recombination 9 541 --- --- --- --- YIPF2 78992 broad.mit.edu 37 19 11038362 11038364 + In_Frame_Del DEL GCT GCT - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:11038362_11038364delGCT ENST00000586748.1 - 4 393_395 c.221_223delAGC c.(220-225)ccg>c p.QP74del YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 74 integral to membrane|transport vesicle cervix(1)|endometrium(1)|lung(3)|ovary(2) 7 CAGAATCCCGgctgctgctgctg 0.621 7 250 --- --- --- --- ATP4A 495 broad.mit.edu 37 19 36054349 36054351 + In_Frame_Del DEL CTT CTT - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:36054349_36054351delCTT ENST00000262623.3 - 2 119_121 c.91_93delAAG c.(91-93)del p.K31del NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 31 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CGCCACCCGCCTTCTTCTTCTTG 0.601 7 1545 --- --- --- --- WBP7 0 broad.mit.edu 37 19 36214865 36214866 + Frame_Shift_Ins INS - - G rs34014681 by1000genomes TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:36214865_36214866insG ENST00000222270.7 + 8 3291_3292 c.3291_3292insG c.(3289-3294)ccggggfs p.PG1097fs WBP7_ENST00000420124.1_Frame_Shift_Ins_p.PG1097fs|KMT2B_ENST00000607650.1_RNA NM_014727.1 NP_055542.1 ACTCGGAGCCCGGGGGCCCCCC 0.574 20 249 --- --- --- --- WDR62 284403 broad.mit.edu 37 19 36583666 36583668 + In_Frame_Del DEL GCA GCA - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:36583666_36583668delGCA ENST00000401500.2 + 19 2321_2323 c.2286_2288delGCA c.(2284-2289)cgg>cg p.RQ762del WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 762 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TTGACCACCGGCAGCAGCAGCAG 0.616 9 881 --- --- --- --- SPRED3 399473 broad.mit.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:38882864_38882866delCCT ENST00000587013.1 + 3 569_571 c.491_493delCCT c.(490-495)ccc>c p.PS164del SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 120 multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCACTCAccccctcctcctcctc 0.645 9 140 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42753149 42753151 + In_Frame_Del DEL GAA GAA - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:42753149_42753151delGAA ENST00000222329.4 - 4 1270_1272 c.1113_1115delTTC c.(1111-1116)tcc>tc p.SS371del ERF_ENST00000440177.2_In_Frame_Del_p.SS296del|AC006486.9_ENST00000594664.1_Intron NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 371 Poly-Ser. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GAATGGGGAGGAAGAAGAAGAAG 0.680 9 740 --- --- --- --- BCL3 602 broad.mit.edu 37 19 45262726 45262726 + Frame_Shift_Del DEL C C - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:45262726delC ENST00000164227.5 + 9 1463 c.1219delC c.(1219-1221)ccfs p.P408fs NM_005178.4 NP_005169.2 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 408 Pro/Ser-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) CTCCCAGTCTCCCCCCAGGGA 0.627 T IGH@ CLL 7 2227 --- --- --- --- PVRL2 5819 broad.mit.edu 37 19 45381749 45381751 + In_Frame_Del DEL GAG GAG - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:45381749_45381751delGAG ENST00000252485.4 + 6 1663_1665 c.1312_1314delGAG c.(1312-1314)del p.E445del PVRL2_ENST00000252483.5_Intron NM_002856.2 NP_002847.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 504 adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) TGGCAaggatgaggaggaggagg 0.591 12 126 --- --- --- --- ZC3H4 23211 broad.mit.edu 37 19 47572401 47572403 + In_Frame_Del DEL CTC CTC - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:47572401_47572403delCTC ENST00000253048.5 - 14 2381_2383 c.2344_2346delGAG c.(2344-2346)del p.E782del ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 782 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TCCTCGCTCTCTCCTCCTCCTCC 0.700 7 797 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 13 545 --- --- --- --- HNF4A 3172 broad.mit.edu 37 20 43052773 43052775 + In_Frame_Del DEL GCT GCT - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr20:43052773_43052775delGCT ENST00000316099.3 + 8 1097_1099 c.1008_1010delGCT c.(1006-1011)gag>ga p.EL336del HNF4A_ENST00000443598.2_In_Frame_Del_p.EL336del|HNF4A_ENST00000415691.1_In_Frame_Del_p.EL336del|HNF4A_ENST00000457232.1_In_Frame_Del_p.EL314del NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 336 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCTTTGGAGAGCTGCTGCTGCTG 0.576 7 161 --- --- --- --- ZNF334 55713 broad.mit.edu 37 20 45130985 45130985 + Frame_Shift_Del DEL A A - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr20:45130985delA ENST00000457685.2 - 6 2202 c.879delT c.(877-879)ttfs p.F293fs ZNF334_ENST00000347606.4_Frame_Shift_Del_p.F331fs|ZNF334_ENST00000593880.1_Frame_Shift_Del_p.F354fs Q9HCZ1 ZN334_HUMAN zinc finger protein 334 331 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) CTGACTTCCGAAAAAAGGTCT 0.438 7 931 --- --- --- --- RP5-843L14.1 0 broad.mit.edu 37 20 55162531 55162533 + RNA DEL AGG AGG - rs55743303 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr20:55162531_55162533delAGG ENST00000434176.1 + 0 557 ggggaggattaggaggaggagga 0.483 3 3 --- --- --- --- MYT1 4661 broad.mit.edu 37 20 62848481 62848482 + Frame_Shift_Ins INS - - C TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr20:62848481_62848482insC ENST00000536311.1 + 11 2057_2058 c.1693_1694insC c.(1693-1695)cccfs p.P565fs MYT1_ENST00000360149.4_Frame_Shift_Ins_p.P267fs|MYT1_ENST00000328439.1_Frame_Shift_Ins_p.P565fs Q01538 MYT1_HUMAN myelin transcription factor 1 565 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GCCCAACGTGGCCCCCGCCACA 0.594 7 924 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11049306 11049307 + RNA INS - - T rs57143135 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr21:11049306_11049307insT ENST00000470054.1 - 0 659 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATATCCAGTAATTTTTTTAAGT 0.272 15 197 --- --- --- --- AP001347.6 0 broad.mit.edu 37 21 15441192 15441193 + RNA INS - - T rs148464975 TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr21:15441192_15441193insT ENST00000428809.1 + 0 177 TGTATTTTGAATTCTTGGAATT 0.361 8 366 --- --- --- --- PTTG1IP 754 broad.mit.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr21:46276194_46276196delGCA ENST00000330938.3 - 4 581_583 c.361_363delTGC c.(361-363)del p.C121del PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397887.3_Intron NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 121 Poly-Cys. protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) TCTTCCTCCTGCAGCAGCAGCAG 0.616 7 287 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chr22:42610573_42610575delAGG ENST00000359486.3 - 1 873_875 c.737_739delCCT c.(736-741)ttc>t p.SF246del TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 246 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGTGAAGGGAaggaggaggagga 0.507 7 353 --- --- --- --- NAP1L2 4674 broad.mit.edu 37 X 72433664 72433666 + In_Frame_Del DEL TCC TCC - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chrX:72433664_72433666delTCC ENST00000373517.3 - 1 1018_1020 c.663_665delGGA c.(661-666)gac>ga p.ED221del NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 221 Glu-rich (acidic). nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) CTCAATGTCGtcctcctcctcct 0.424 9 94 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639633 149639635 + In_Frame_Del DEL GCA GCA - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chrX:149639633_149639635delGCA ENST00000370401.2 + 4 2098_2100 c.1788_1790delGCA c.(1786-1791)ctg>ct p.LQ596del MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del Q13495 MAMD1_HUMAN mastermind-like domain containing 1 596 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) CCTTgcagctgcagcagcagcag 0.611 14 515 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149984524 149984526 + In_Frame_Del DEL GTG GTG - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chrX:149984524_149984526delGTG ENST00000370377.3 - 3 273_275 c.156_158delCAC c.(154-159)aca>ac p.TT52del CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 52 Poly-Thr. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCTATTGGTTGTGGTGGTGGTGG 0.552 9 940 --- --- --- --- RP13-228J13.1 0 broad.mit.edu 37 X 154578866 154578866 + RNA DEL T T - TCGA-2J-AAB6-01A-11D-A40W-08 TCGA-2J-AAB6-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 095c6a38-144a-466c-8d4f-f8a49a0f4741 d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b g.chrX:154578866delT ENST00000412436.1 - 0 98 RP13-228J13.1_ENST00000444722.1_RNA|RP13-228J13.5_ENST00000453508.1_RNA TTTCTCTCTGTTTTTTTTTTT 0.418 19 112 --- --- --- ---