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 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_ENST00000371846.4_Missense_Mutation_p.D33V|VAV3_ENST00000527011.1_Missense_Mutation_p.D98V 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 0.353 20 30 --- --- --- --- 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 0.512 15 56 --- --- --- --- 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 0.448 13 63 --- --- --- --- 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_ENST00000540783.1_Missense_Mutation_p.H126Y|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.H135Y|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.H59Y|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.H279Y|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.H279Y|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.H126Y|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.H108Y 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 0.493 7 13 --- --- --- --- 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_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000398559.2_Silent_p.R688R|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597950.1_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 0.403 52 64 --- --- --- --- 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 0.473 6 12 --- --- --- --- 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_ENST00000357258.3_Missense_Mutation_p.G356V|ZBTB20_ENST00000481632.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000464560.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000474710.1_Missense_Mutation_p.G429V|ZBTB20_ENST00000471418.1_Missense_Mutation_p.G356V|ZBTB20_ENST00000393785.2_Missense_Mutation_p.G356V 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 0.607 31 60 --- --- --- --- 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 0.413 9 261 --- --- --- --- 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_ENST00000394414.1_Nonsense_Mutation_p.R119*|PPP2R2B_ENST00000508545.2_Nonsense_Mutation_p.R42*|PPP2R2B_ENST00000504198.1_Nonsense_Mutation_p.R59*|PPP2R2B_ENST00000394410.2_Nonsense_Mutation_p.R42*|PPP2R2B_ENST00000356826.3_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000394411.4_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000394409.3_Nonsense_Mutation_p.R111*|PPP2R2B_ENST00000453001.1_Nonsense_Mutation_p.R53*|PPP2R2B_ENST00000336640.6_Nonsense_Mutation_p.R56*|PPP2R2B_ENST00000530902.1_5'UTR 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 0.453 97 313 --- --- --- --- 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 0.582 24 97 --- --- --- --- PTK7 5754 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_ENST00000349241.2_Missense_Mutation_p.Q625R|PTK7_ENST00000481273.1_Missense_Mutation_p.Q763R|PTK7_ENST00000345201.2_Missense_Mutation_p.Q715R|PTK7_ENST00000352931.2_Missense_Mutation_p.Q699R 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 0.592 11 62 --- --- --- --- 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 0.468 43 45 --- --- --- --- 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 0.567 27 123 --- --- --- --- SDAD1P1 157489 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 0.443 9 50 --- --- --- --- 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 0.413 11 86 --- --- --- --- 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 0.413 11 87 --- --- --- --- 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 CENPP_ENST00000375587.3_3'UTR|IPPK_ENST00000375522.1_Missense_Mutation_p.E118G|IPPK_ENST00000486841.1_5'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 0.498 6 39 --- --- --- --- BRINP1 1620 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 BRINP1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 bone morphogenetic protein/retinoic acid inducible neural-specific 1 425 CGCAGGGGATGGGGCGCTGGC 0.607 7 13 --- --- --- --- 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_ENST00000373434.1_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000394022.3_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 0.617 28 28 --- --- --- --- 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 0.408 11 32 --- --- --- --- 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_ENST00000361941.3_Missense_Mutation_p.T1281S|SORBS1_ENST00000371239.1_Missense_Mutation_p.T800S|SORBS1_ENST00000607232.1_Missense_Mutation_p.T1283S|SORBS1_ENST00000353505.5_Missense_Mutation_p.T894S|SORBS1_ENST00000277982.5_Missense_Mutation_p.T1140S|SORBS1_ENST00000371241.1_Missense_Mutation_p.T673S|SORBS1_ENST00000371246.2_Missense_Mutation_p.T1140S|SORBS1_ENST00000371249.2_Missense_Mutation_p.T805S|SORBS1_ENST00000371245.3_Missense_Mutation_p.T894S|SORBS1_ENST00000371227.4_Missense_Mutation_p.T1255S|SORBS1_ENST00000354106.3_Missense_Mutation_p.T993S|SORBS1_ENST00000393949.1_Missense_Mutation_p.T993S|SORBS1_ENST00000306402.6_Missense_Mutation_p.T770S|SORBS1_ENST00000347291.4_Missense_Mutation_p.T835S 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 0.393 19 36 --- --- --- --- 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.682T>C c.(682-684)Tca>Cca p.S228P RNF214_ENST00000300650.4_Splice_Site_p.S383P|RNF214_ENST00000531452.1_Splice_Site_p.S383P|RNF214_ENST00000531287.1_Splice_Site_p.S228P 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 0.473 7 33 --- --- --- --- 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 0.343 7 69 --- --- --- --- AVPR1A 552 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 0.597 4 142 --- --- --- --- 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 0.388 19 122 --- --- --- --- 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 0.388 57 114 --- --- --- --- 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_ENST00000555664.1_Missense_Mutation_p.C345S|UNC79_ENST00000256339.4_Missense_Mutation_p.C168S|UNC79_ENST00000393151.2_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 0.378 44 58 --- --- --- --- 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_ENST00000260323.11_Silent_p.T1971T|UNC13C_ENST00000537900.1_Silent_p.T1969T 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 0.438 7 2 --- --- --- --- 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_ENST00000411502.3_Silent_p.L462L|SLC26A11_ENST00000572725.1_Silent_p.L462L|SLC26A11_ENST00000546047.2_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 0.637 8 11 --- --- --- --- 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_ENST00000543302.2_Missense_Mutation_p.L468F|RNMT_ENST00000535051.1_Missense_Mutation_p.L226F|RNMT_ENST00000589866.1_Missense_Mutation_p.L468F|RNMT_ENST00000262173.3_Missense_Mutation_p.L468F|RNMT_ENST00000592764.1_Intron 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 0.348 17 17 --- --- --- --- 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_ENST00000542677.1_Missense_Mutation_p.E41D|SERPINB8_ENST00000493661.1_3'UTR|SERPINB8_ENST00000353706.2_Missense_Mutation_p.E223D|SERPINB8_ENST00000397988.3_Missense_Mutation_p.E223D 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 0.512 11 27 --- --- --- --- 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 0.706 9 20 --- --- --- --- 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 0.632 10 6 --- --- --- --- 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 ENST00000265362.4 - 17 2487 c.2173delG c.(2173-2175)gttfs 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 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)tttaaafs p.FK257fs PI15_ENST00000523773.1_Frame_Shift_Del_p.FK257fs|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_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)ccafs p.P1460fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGTGAGCAGTGGGGGGTCCAG 0.562 48 91 --- --- --- --- CD37 951 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)ctcagc>ctc p.S202del CD37_ENST00000323906.4_In_Frame_Del_p.S202del|CD37_ENST00000426897.2_In_Frame_Del_p.S134del|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000598095.1_In_Frame_Del_p.S134del P11049 CD37_HUMAN CD37 molecule 202 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 --- --- --- ---