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 CT47B1 643311 broad.mit.edu 37 X 120009180 120009180 + Silent SNP G G A TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chrX:120009180G>A ENST00000371311.3 - 1 599 c.345C>T c.(343-345)taC>taT p.Y115Y NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 115 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 CCGCCGCCGGGTACCGACGGG 0.632000 10 6 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13381788 13381788 + Missense_Mutation SNP G G A TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr3:13381788G>A ENST00000254508.5 - 24 3321 c.3239C>T c.(3238-3240)cCg>cTg p.P1080L NUP210_ENST00000485755.1_Intron NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1080 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) CAGCCTGAACGGGGGAAAGAC 0.577000 16 23 0 0 1 0 0 PRRX1 5396 broad.mit.edu 37 1 170699464 170699464 + Missense_Mutation SNP G G A rs148536447 TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr1:170699464G>A ENST00000367760.3 + 4 1731 c.646G>A c.(646-648)Gga>Aga p.G216R PRRX1_ENST00000239461.6_Intron|PRRX1_ENST00000476867.2_Intron NM_006902.3 NP_008833.1 P54821 PRRX1_HUMAN paired related homeobox 1 0 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCTTCATAACGGATTCTAACG 0.453000 20 117 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73657756 73657756 + Missense_Mutation SNP G G A rs144715916 TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr3:73657756G>A ENST00000263666.4 - 2 917 c.803C>T c.(802-804)cCg>cTg p.P268L PDZRN3_ENST00000308537.4_Missense_Mutation_p.P268L NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 268 PDZ 1. ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TACCACACTCGGCCGGCCACC 0.473000 6 12 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156590429 156590429 + Missense_Mutation SNP C C T TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr5:156590429C>T ENST00000302938.4 - 2 942 c.847G>A c.(847-849)Gca>Aca p.A283T NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 283 Ala-rich. nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCTGCTATTGCCACATCTGTT 0.582000 24 97 0 0 1 0 0 ZBTB7A 51341 broad.mit.edu 37 19 4054211 4054211 + Missense_Mutation SNP C C A TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr19:4054211C>A ENST00000322357.4 - 2 1298 c.1020G>T c.(1018-1020)gaG>gaT p.E340D ZBTB7A_ENST00000601588.1_Missense_Mutation_p.E340D NM_015898.2 NP_056982.1 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 340 cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) CGGCCCGCGACTCCTCGTCGC 0.706000 9 20 2.17888e-05 2.30338e-05 1 1 0 ZNF518B 85460 broad.mit.edu 37 4 10447287 10447287 + Silent SNP G G C TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr4:10447287G>C ENST00000326756.3 - 3 1104 c.666C>G c.(664-666)gtC>gtG p.V222V NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 222 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 CAACAGCTTTGACTGGCCGTT 0.413000 9 261 0 0 1 0 0 LILRB5 0 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 3 41 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72664015 72664015 + RNA SNP C C G TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr7:72664015C>G ENST00000425256.1 - 0 885 NR_002164.1 ATACCACCCCCGGGGCATGCC 0.507000 3 13 0 0 1 0 0 PIWIL1 9271 broad.mit.edu 37 12 130840152 130840152 + Missense_Mutation SNP C C A TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr12:130840152C>A ENST00000245255.3 + 12 1616 c.1344C>A c.(1342-1344)aaC>aaA p.N448K NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 448 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) TTGATTCCAACTTACTGTCCT 0.388000 57 114 1.4709e-25 1.67456e-25 1 1 0 NSMCE4A 54780 broad.mit.edu 37 10 123720979 123720979 + Missense_Mutation SNP G G A TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr10:123720979G>A ENST00000538652.1 - 7 1058 c.421C>T c.(421-423)Cgt>Tgt p.R141C NSMCE4A_ENST00000369023.3_Missense_Mutation_p.R300C|NSMCE4A_ENST00000489266.1_5'UTR Q9NXX6 NSE4A_HUMAN non-SMC element 4 homolog A (S. cerevisiae) 300 breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 6 all_neural(114;0.138)|Glioma(114;0.222) TCCACTGTACGGGGGAAAGAA 0.313000 10 44 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49670145 49670145 + Missense_Mutation SNP G G A TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr16:49670145G>A ENST00000561648.1 - 4 2971 c.2918C>T c.(2917-2919)aCg>aTg p.T973M ZNF423_ENST00000567169.1_Missense_Mutation_p.T856M|ZNF423_ENST00000562520.1_Missense_Mutation_p.T913M|ZNF423_ENST00000262383.2_Missense_Mutation_p.T973M|ZNF423_ENST00000563137.2_Missense_Mutation_p.T913M|ZNF423_ENST00000535559.1_Missense_Mutation_p.T856M|ZNF423_ENST00000562871.1_Missense_Mutation_p.T913M NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 973 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.T973M(2) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) TTCGGTGAGCGTCAGCAGCGA 0.612000 5 44 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr22:22664115A>T ENST00000426066.1 + 0 638 NR_027293.1 TGTTTAATTCAGCCTTGGAAG 0.413000 4 57 0 0 1 0 0 PTK7 0 broad.mit.edu 37 6 43112201 43112201 + Missense_Mutation SNP A A G TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr6:43112201A>G ENST00000230419.4 + 15 2485 c.2264A>G c.(2263-2265)cAg>cGg p.Q755R PTK7_ENST00000481273.1_Missense_Mutation_p.Q763R|PTK7_ENST00000352931.2_Missense_Mutation_p.Q699R|PTK7_ENST00000349241.2_Missense_Mutation_p.Q625R|PTK7_ENST00000345201.2_Missense_Mutation_p.Q715R NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 755 actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GGGCCTTTGCAGAACGGGCAG 0.592000 11 62 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30306821 30306821 + Missense_Mutation SNP C C G TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr10:30306821C>G ENST00000375377.1 - 4 4172 c.4071G>C c.(4069-4071)gaG>gaC p.E1357D NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 1357 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ATCACACCCTCTCCACTCTGC 0.408000 11 32 0 0 1 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173832003 173832003 + Missense_Mutation SNP C C T TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr2:173832003C>T ENST00000264111.6 + 10 1019 c.832C>T c.(832-834)Cat>Tat p.H278Y RAPGEF4_ENST00000538974.1_Missense_Mutation_p.H108Y|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.H59Y|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.H126Y|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.H126Y|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.H279Y|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.H135Y|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.H279Y Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 279 DEP. blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) CCAGGAGCACCATTTCCAAGA 0.493000 7 13 0 0 1 0 0 NT5E 4907 broad.mit.edu 37 6 86195049 86195049 + Missense_Mutation SNP T T G TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr6:86195049T>G ENST00000257770.3 + 4 897 c.848T>G c.(847-849)tTt>tGt p.F283C NT5E_ENST00000369651.3_Missense_Mutation_p.F283C NM_002526.3 NP_002517.1 P21589 5NTD_HUMAN 5'-nucleotidase, ecto (CD73) 283 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) GCCTATGCTTTTGGCAAATAC 0.468000 43 45 0 0 1 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146080619 146080619 + Nonsense_Mutation SNP G G A TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr5:146080619G>A ENST00000394413.3 - 2 727 c.157C>T c.(157-159)Cga>Tga p.R53* PPP2R2B_ENST00000394411.4_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Nonsense_Mutation_p.R56*|PPP2R2B_ENST00000394414.1_Nonsense_Mutation_p.R119*|PPP2R2B_ENST00000453001.1_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000504198.1_Nonsense_Mutation_p.R59*|PPP2R2B_ENST00000508545.2_Nonsense_Mutation_p.R42*|PPP2R2B_ENST00000394410.2_Nonsense_Mutation_p.R42*|PPP2R2B_ENST00000356826.3_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000394409.3_Nonsense_Mutation_p.R111* Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 53 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCTGCTCTCGTTGAAATATT 0.453000 97 313 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54847665 54847665 + Silent SNP G G A TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr15:54847665G>A ENST00000545554.1 + 28 5913 c.5913G>A c.(5911-5913)acG>acA p.T1971T UNC13C_ENST00000537900.1_Silent_p.T1969T|UNC13C_ENST00000260323.11_Silent_p.T1971T Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1971 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GGGGTCTGACGCCAAGACAAT 0.438000 7 2 0 0 1 0 0 DBC1 0 broad.mit.edu 37 9 121930373 121930373 + Silent SNP G G A TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr9:121930373G>A ENST00000265922.3 - 8 1736 c.1275C>T c.(1273-1275)ccC>ccT p.P425P DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 425 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CGCAGGGGATGGGGCGCTGGC 0.607000 7 13 0 0 1 0 0 VAV3 10451 broad.mit.edu 37 1 108417551 108417551 + Missense_Mutation SNP T T A TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr1:108417551T>A ENST00000370056.4 - 2 567 c.293A>T c.(292-294)gAc>gTc p.D98V VAV3_ENST00000527011.1_Missense_Mutation_p.D98V|VAV3_ENST00000371846.4_Missense_Mutation_p.D33V NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 98 CH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) ATCAAACAAGTCAAATGCCTC 0.353000 20 30 0 0 1 0 0 PHYHIP 9796 broad.mit.edu 37 8 22079251 22079251 + Missense_Mutation SNP C C T TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr8:22079251C>T ENST00000454243.2 - 5 1182 c.608G>A c.(607-609)cGc>cAc p.R203H PHYHIP_ENST00000321613.3_Missense_Mutation_p.R203H NM_014759.3 NP_055574.3 Q92561 PHYIP_HUMAN phytanoyl-CoA 2-hydroxylase interacting protein 203 endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 10 Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629) GAAGCGCCAGCGGCCGTAGGG 0.627000 5 8 0 0 1 0 0 PCDHGB2 0 broad.mit.edu 37 5 140741286 140741286 + Silent SNP C C T TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr5:140741286C>T ENST00000522605.1 + 1 1584 c.1584C>T c.(1582-1584)ttC>ttT p.F528F PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGCGCCTTCGAGCTCACAC 0.667000 4 67 0 0 1 0 0 RANBP6 26953 broad.mit.edu 37 9 6013361 6013361 + Nonsense_Mutation SNP A A T TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr9:6013361A>T ENST00000259569.5 - 1 2257 c.2247T>A c.(2245-2247)taT>taA p.Y749* NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 749 protein transport cytoplasm|nucleus binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) TCTGTGCAAGATACTCTGGGC 0.413000 11 87 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43926933 43926933 + Missense_Mutation SNP C C T TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr2:43926933C>T ENST00000282406.4 + 8 946 c.836C>T c.(835-837)tCt>tTt p.S279F NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 279 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TCCCAGAATTCTGGGGCTCCT 0.512000 15 56 0 0 1 0 0 TMF1 7110 broad.mit.edu 37 3 69087802 69087802 + Silent SNP A A C TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr3:69087802A>C ENST00000543976.1 - 8 2319 c.2073T>G c.(2071-2073)cgT>cgG p.R691R CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000398559.2_Silent_p.R688R|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA NM_007114.2 NP_009045.2 P82094 TMF1_HUMAN TATA element modulatory factor 1 688 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) CTTTCATTTCACGGCTCAGAG 0.403000 52 64 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4119141 4119141 + Silent SNP T T G TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr7:4119141T>G ENST00000404826.2 + 22 3388 c.3249T>G c.(3247-3249)ccT>ccG p.P1083P SDK1_ENST00000389531.3_Silent_p.P1083P NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1083 Fibronectin type-III 5. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) ACATCAGCCCTCGCTCCGCCA 0.567000 27 123 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2039776 2039776 + Silent SNP A A G rs13296987 byFrequency TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr9:2039776A>G ENST00000382203.1 + 4 875 c.666A>G c.(664-666)caA>caG p.Q222Q SMARCA2_ENST00000357248.2_Silent_p.Q222Q|SMARCA2_ENST00000382194.1_Silent_p.Q222Q|SMARCA2_ENST00000349721.2_Silent_p.Q222Q|SMARCA2_ENST00000491574.1_3'UTR P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 222 Poly-Gln. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) agcagcagcaacagcagcagc 0.637000 3 38 0 0 1 0 0 SLC26A11 284129 broad.mit.edu 37 17 78222020 78222020 + Silent SNP C C T TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr17:78222020C>T ENST00000361193.3 + 14 1666 c.1386C>T c.(1384-1386)ctC>ctT p.L462L SLC26A11_ENST00000546047.2_Silent_p.L462L|SLC26A11_ENST00000411502.3_Silent_p.L462L|SLC26A11_ENST00000572725.1_Silent_p.L462L NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 462 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) TGTCTCTGCTCATGCTCCTGC 0.637000 8 11 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131520257 131520257 + Silent SNP G G T TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr2:131520257G>T ENST00000423981.1 + 2 722 c.612G>T c.(610-612)ccG>ccT p.P204P AMER3_ENST00000321420.4_Silent_p.P204P NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 TCCTCCCCCCGGGTGAGGGGC 0.701000 16 31 1.5739e-10 1.71277e-10 1 1 0 TGM7 116179 broad.mit.edu 37 15 43571977 43571977 + Silent SNP C C A TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr15:43571977C>A ENST00000452443.2 - 10 1528 c.1524G>T c.(1522-1524)ctG>ctT p.L508L NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 508 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) TACGCAGCAGCAGCTGCAGGT 0.657000 5 50 3.59834e-05 3.75038e-05 1 1 0 UNC79 57578 broad.mit.edu 37 14 93994973 93994973 + Missense_Mutation SNP T T A TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr14:93994973T>A ENST00000553484.1 + 9 1187 c.1033T>A c.(1033-1035)Tgc>Agc p.C345S UNC79_ENST00000256339.4_Missense_Mutation_p.C168S|UNC79_ENST00000393151.2_Missense_Mutation_p.C345S|UNC79_ENST00000555664.1_Missense_Mutation_p.C345S Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 345 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CTGTGAAGAATGCAGCGAGAG 0.378000 44 58 0 0 1 0 0 SDAD1P1 0 broad.mit.edu 37 8 26237669 26237669 + RNA SNP A A G TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr8:26237669A>G ENST00000519902.1 - 0 2279 TCAAAGTTCTAGCAGACATCA 0.443000 9 50 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282534 152282534 + Missense_Mutation SNP G G A TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr1:152282534G>A ENST00000368799.1 - 3 4863 c.4828C>T c.(4828-4830)Cgg>Tgg p.R1610W FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1610 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACTCAGACCGCCTCTCAGAG 0.572000 Ichthyosis 9 258 0 0 1 0 0 ANGPTL2 23452 broad.mit.edu 37 9 129870588 129870588 + Silent SNP G G T TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr9:129870588G>T ENST00000373425.3 - 2 1040 c.423C>A c.(421-423)ctC>ctA p.L141L RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron NM_012098.2 NP_036230.1 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 141 multicellular organismal development|signal transduction extracellular space receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1) 18 TCTCGTGCAGGAGCTGCATGT 0.617000 28 28 1.39806e-14 1.54412e-14 1 1 0 DHX33 56919 broad.mit.edu 37 17 5353605 5353605 + Missense_Mutation SNP C C T TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr17:5353605C>T ENST00000225296.3 - 10 1846 c.1646G>A c.(1645-1647)cGc>cAc p.R549H DHX33_ENST00000433302.3_Missense_Mutation_p.R325H NM_001199699.1|NM_020162.3 NP_001186628.1|NP_064547.2 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 549 nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GAACTTCTTGCGGACCCCTTG 0.537000 16 117 0 0 1 0 0 IPPK 64768 broad.mit.edu 37 9 95378253 95378253 + Missense_Mutation SNP T T C TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr9:95378253T>C ENST00000287996.3 - 13 1613 c.1337A>G c.(1336-1338)gAg>gGg p.E446G IPPK_ENST00000375522.1_Missense_Mutation_p.E118G|IPPK_ENST00000486841.1_5'UTR|CENPP_ENST00000375587.3_3'UTR NM_022755.5 NP_073592.1 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase 446 inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1) 15 GGGAATGCTCTCGTAGGGCTT 0.498000 6 39 0 0 1 0 0 DLK1 8788 broad.mit.edu 37 14 101194764 101194764 + Missense_Mutation SNP A A T rs13329039 byFrequency TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr14:101194764A>T ENST00000341267.4 + 2 341 c.99A>T c.(97-99)caA>caT p.Q33H DLK1_ENST00000556051.1_Missense_Mutation_p.Q33H|DLK1_ENST00000331224.6_Missense_Mutation_p.Q33H NM_003836.5 NP_003827.3 P80370 DLK1_HUMAN delta-like 1 homolog (Drosophila) 33 EGF-like 1. multicellular organismal development extracellular space|integral to membrane|soluble fraction breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1) 29 Melanoma(154;0.155) GCAACCCCCAAAATGGATTCT 0.562000 13 47 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26640135 26640135 + Missense_Mutation SNP A A T TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr12:26640135A>T ENST00000381340.3 - 40 5836 c.5420T>A c.(5419-5421)tTt>tAt p.F1807Y NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1807 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GAGAACTTTAAAGAATTTTTC 0.343000 7 69 0 0 1 0 0 RNF214 257160 broad.mit.edu 37 11 117152031 117152031 + Splice_Site SNP T T C TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr11:117152031T>C ENST00000530849.1 + 8 692 c.680_splice c.e8-1 p.S228_splice RNF214_ENST00000531287.1_Splice_Site_p.S228_splice|RNF214_ENST00000531452.1_Splice_Site_p.S383_splice|RNF214_ENST00000300650.4_Splice_Site_p.S383_splice Q8ND24 RN214_HUMAN ring finger protein 214 383 zinc ion binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) TCTTGAAAGGTCAACTCCCCC 0.473000 7 33 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125192103 125192103 + Missense_Mutation SNP A A G TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr2:125192103A>G ENST00000431078.1 + 5 936 c.572A>G c.(571-573)tAc>tGc p.Y191C NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 191 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TCACTTCTGTACAGGTTCAAT 0.448000 13 63 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 4 17 0 0 1 0 0 ASIC1 41 broad.mit.edu 37 12 50473744 50473744 + Missense_Mutation SNP C C T TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr12:50473744C>T ENST00000228468.4 + 8 1496 c.1111C>T c.(1111-1113)Cgc>Tgc p.R371C ASIC1_ENST00000552438.1_Missense_Mutation_p.R405C|ASIC1_ENST00000447966.2_Missense_Mutation_p.R371C NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 371 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CAACCTGACCCGCTATGGCAA 0.532000 4 115 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97074853 97074853 + Missense_Mutation SNP G G C TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr10:97074853G>C ENST00000371247.2 - 33 4031 c.3842C>G c.(3841-3843)aCt>aGt p.T1281S SORBS1_ENST00000371239.1_Missense_Mutation_p.T800S|SORBS1_ENST00000353505.5_Missense_Mutation_p.T894S|SORBS1_ENST00000277982.5_Missense_Mutation_p.T1140S|SORBS1_ENST00000393949.1_Missense_Mutation_p.T993S|SORBS1_ENST00000354106.3_Missense_Mutation_p.T993S|SORBS1_ENST00000347291.4_Missense_Mutation_p.T835S|SORBS1_ENST00000306402.6_Missense_Mutation_p.T770S|SORBS1_ENST00000371249.2_Missense_Mutation_p.T805S|SORBS1_ENST00000371241.1_Missense_Mutation_p.T673S|SORBS1_ENST00000371227.4_Missense_Mutation_p.T1255S|SORBS1_ENST00000371245.3_Missense_Mutation_p.T894S|SORBS1_ENST00000371246.2_Missense_Mutation_p.T1140S|SORBS1_ENST00000607232.1_Missense_Mutation_p.T1283S|SORBS1_ENST00000361941.3_Missense_Mutation_p.T1281S Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 1281 SH3 3. focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) GCCTGGAAAAGTACCAAACTG 0.393000 19 36 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114069639 114069639 + Missense_Mutation SNP C C A TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr3:114069639C>A ENST00000462705.1 - 11 1888 c.1067G>T c.(1066-1068)gGt>gTt p.G356V ZBTB20_ENST00000471418.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000464560.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000357258.3_Missense_Mutation_p.G356V|ZBTB20_ENST00000481632.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000393785.2_Missense_Mutation_p.G356V|ZBTB20_ENST00000474710.1_Missense_Mutation_p.G429V NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) AGAGGAAGCACCTGTTTCTAG 0.607000 31 60 6.02846e-25 6.75918e-25 1 1 0 AVPR1A 0 broad.mit.edu 37 12 63543962 63543962 + Missense_Mutation SNP A A T TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr12:63543962A>T ENST00000299178.2 - 1 760 c.655T>A c.(655-657)Tgg>Agg p.W219R NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 219 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) CCCGTCATCCAGGTCACGTAG 0.597000 4 142 0 0 1 0 0 SERPINB8 5271 broad.mit.edu 37 18 61652428 61652428 + Missense_Mutation SNP G G C TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr18:61652428G>C ENST00000397985.2 + 6 925 c.669G>C c.(667-669)gaG>gaC p.E223D SERPINB8_ENST00000493661.1_3'UTR|SERPINB8_ENST00000397988.3_Missense_Mutation_p.E223D|SERPINB8_ENST00000353706.2_Missense_Mutation_p.E223D|SERPINB8_ENST00000542677.1_Missense_Mutation_p.E41D NM_001276490.1 NP_001263419.1 P50452 SPB8_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 8 223 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) ATGTGGAAGAGGAGCTGAGCA 0.512000 11 27 0 0 1 0 0 ALG1L2 0 broad.mit.edu 37 3 129817105 129817105 + RNA SNP A A G TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr3:129817105A>G ENST00000507643.1 + 0 687 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups CTGATCCTGAAGGCAAGCTAA 0.527000 3 41 0 0 1 0 0 RNMT 8731 broad.mit.edu 37 18 13759951 13759951 + Missense_Mutation SNP G G C TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr18:13759951G>C ENST00000383314.2 + 12 1644 c.1404G>C c.(1402-1404)ttG>ttC p.L468F RNMT_ENST00000262173.3_Missense_Mutation_p.L468F|RNMT_ENST00000535051.1_Missense_Mutation_p.L226F|RNMT_ENST00000592764.1_Intron|RNMT_ENST00000589866.1_Missense_Mutation_p.L468F|RNMT_ENST00000543302.2_Missense_Mutation_p.L468F O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 468 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2) 18 GTATTTACTTGGTGTTTGCCT 0.348000 17 17 0 0 1 0 0 RANBP6 26953 broad.mit.edu 37 9 6013360 6013360 + Missense_Mutation SNP G G A TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr9:6013360G>A ENST00000259569.5 - 1 2258 c.2248C>T c.(2248-2250)Ctt>Ttt p.L750F NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 750 protein transport cytoplasm|nucleus binding p.L750F(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) ATCTGTGCAAGATACTCTGGG 0.413000 11 86 0 0 1 0 0 FASTK 10922 broad.mit.edu 37 7 150776063 150776063 + Missense_Mutation SNP C C T TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr7:150776063C>T ENST00000297532.6 - 3 628 c.551G>A c.(550-552)cGa>cAa p.R184Q FASTK_ENST00000540185.1_Intron|FASTK_ENST00000482571.1_Missense_Mutation_p.R184Q|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000353841.2_Missense_Mutation_p.R43Q NM_006712.4 NP_006703.1 Q14296 FASTK_HUMAN Fas-activated serine/threonine kinase 184 apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing ATP binding|Fas-activated serine/threonine kinase activity|protein binding lung(4)|stomach(2) 6 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138) GCGGAGCCTTCGCTCCTGTTC 0.607000 8 8 0 0 1 0 0 PCDHA4 0 broad.mit.edu 37 5 140188584 140188584 + Silent SNP C C T rs17844283 TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr5:140188584C>T ENST00000530339.1 + 1 1812 c.1812C>T c.(1810-1812)aaC>aaT p.N604N PCDHA4_ENST00000512229.2_Silent_p.N604N|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.N604N|PCDHA1_ENST00000504120.2_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGGCTACAACGCGTGGCTTT 0.682000 31 83 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111117853 111117853 + Silent SNP C C T TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr13:111117853C>T ENST00000360467.5 + 25 2184 c.1878C>T c.(1876-1878)ccC>ccT p.P626P NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 626 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) TGGGCCTTCCCGGCCTCAAAG 0.642000 4 35 0 0 1 0 0 IL10 3586 broad.mit.edu 37 1 206944256 206944256 + Missense_Mutation SNP C C T TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr1:206944256C>T ENST00000423557.1 - 3 432 c.374G>A c.(373-375)cGc>cAc p.R125H IL10_ENST00000471071.1_5'UTR NM_000572.2 NP_000563.1 P22301 IL10_HUMAN interleukin 10 125 anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response extracellular space cytokine activity|growth factor activity|interleukin-10 receptor binding endometrium(1)|large_intestine(6)|lung(4)|prostate(1) 12 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) ACTTACACAGCGCCGTAGCCT 0.547000 22 33 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124297927 124297927 + Missense_Mutation SNP G G A TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr12:124297927G>A ENST00000409039.3 + 19 3032 c.3007G>A c.(3007-3009)Gac>Aac p.D1003N NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1003 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CTGGAAATTGGACAAAGCTAT 0.388000 19 122 0 0 1 0 0 TMEM74 157753 broad.mit.edu 37 8 109796599 109796599 + Silent SNP G G A TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr8:109796599G>A ENST00000297459.3 - 2 907 c.729C>T c.(727-729)ggC>ggT p.G243G TMEM74_ENST00000518838.1_Intron NM_153015.1 NP_694560.1 Q96NL1 TMM74_HUMAN transmembrane protein 74 243 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane p.G243G(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) ACAGGATGACGCCCCCCAGCG 0.582000 15 59 0 0 1 0 0 MSH3 4437 broad.mit.edu 37 5 79950742 79950750 + In_Frame_Del DEL CCCCCAGCT CCCCCAGCT - rs3045983 TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr5:79950742_79950750delCCCCCAGCT ENST00000265081.6 + 1 276_284 c.196_204delCCCCCAGCT c.(196-204)del p.PPA66del DHFR_ENST00000439211.2_5'UTR NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 66 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) gCCCCCAGCGCCCCCAGCTCCCGCCTTCC 0.732 Mismatch excision repair (MMR) 4 3 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72662348 72662349 + RNA INS - - A TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr7:72662348_72662349insA ENST00000425256.1 - 0 1007 NR_002164.1 actctgtctccaaaaaaaaaaa 0.480 3 3 --- --- --- --- SEMA3A 10371 broad.mit.edu 37 7 83590830 83590830 + Frame_Shift_Del DEL C C - TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr7:83590830delC ENST00000265362.3 - 17 2487 c.2173delG c.(2173-2175)ttfs p.V725fs SEMA3A_ENST00000436949.1_Frame_Shift_Del_p.V725fs NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 725 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 CTTTTCCAAACTTGTTCACAG 0.453 7 141 --- --- --- --- PI15 51050 broad.mit.edu 37 8 75761482 75761485 + Frame_Shift_Del DEL TAAA TAAA - TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr8:75761482_75761485delTAAA ENST00000260113.2 + 6 950_953 c.771_774delTAAA c.(769-774)ttfs p.FK257fs PI15_ENST00000523773.1_Frame_Shift_Del_p.FK257fs|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA NM_015886.3 NP_056970.1 O43692 PI15_HUMAN peptidase inhibitor 15 257 extracellular region peptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1) 30 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) TGTACTGGTTTAAATAAGTTTACC 0.358 38 41 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49440431 49440431 + Frame_Shift_Del DEL G G - TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr12:49440431delG ENST00000301067.7 - 15 4378 c.4379delC c.(4378-4380)cafs p.P1460fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGTGAGCAGTGGGGGGTCCAG 0.562 48 91 --- --- --- --- C17orf104 284071 broad.mit.edu 37 17 42746783 42746783 + Frame_Shift_Del DEL A A - TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr17:42746783delA ENST00000409122.2 + 6 2497 c.2355delA c.(2353-2355)ggfs p.G785fs C17orf104_ENST00000409464.1_Frame_Shift_Del_p.G619fs|C17orf104_ENST00000359945.3_Frame_Shift_Del_p.G785fs NM_001145080.2 NP_001138552.2 A2RUB1 CQ104_HUMAN chromosome 17 open reading frame 104 785 autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1) 24 ATTATCCTGGAAAAAAAGTAT 0.353 2 4 --- --- --- --- CD37 0 broad.mit.edu 37 19 49842112 49842114 + In_Frame_Del DEL CAG CAG - TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr19:49842112_49842114delCAG ENST00000535669.2 + 6 717_719 c.603_605delCAG c.(601-606)ctc>ct p.LS201del CD37_ENST00000323906.4_In_Frame_Del_p.LS201del|CD37_ENST00000426897.2_In_Frame_Del_p.LS133del|CD37_ENST00000598095.1_In_Frame_Del_p.LS133del|CTC-301O7.4_ENST00000358234.4_lincRNA P11049 CD37_HUMAN CD37 molecule 201 integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 11 all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443) TGCCCCAGCTCAGCAGGCTTGGA 0.621 22 55 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085940 11085942 + RNA DEL CAC CAC - TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr21:11085940_11085942delCAC ENST00000470054.1 - 0 324 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) ccaccaccatcaccaccaccacc 0.532 2 4 --- --- --- --- KRTAP10-1 386677 broad.mit.edu 37 21 45959946 45959946 + Frame_Shift_Del DEL G G - TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx cf4265c8-5f60-4f71-8ade-cb73044fa524 afbadcf2-d858-478b-adda-23f04631ad78 g.chr21:45959946delG ENST00000400375.1 - 1 132 c.88delC c.(88-90)acfs p.H30fs TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 30 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 GCGCAGCAGTGGGGCTCACAG 0.701 58 57 --- --- --- ---