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 ATP13A4 84239 broad.mit.edu 37 3 193188757 193188757 + Silent SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr3:193188757G>A ENST00000342695.4 - 9 1156 c.834C>T c.(832-834)cgC>cgT p.R278R ATP13A4_ENST00000392443.3_Silent_p.R278R|ATP13A4_ENST00000295548.3_Silent_p.R278R NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 278 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GCACCAGGACGCGTGATTCCA 0.448000 50 253 0 0 1 0 0 ZNF587B 100293516 broad.mit.edu 37 19 58352661 58352661 + Missense_Mutation SNP T T A rs148810844 by1000genomes TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr19:58352661T>A ENST00000442832.4 + 3 853 c.619T>A c.(619-621)Ttt>Att p.F207I ZNF587B_ENST00000594901.1_Missense_Mutation_p.F207I|ZNF587B_ENST00000316462.4_Intron|CTD-2583A14.10_ENST00000598031.1_Intron NM_001204818.1 NP_001191747.1 B4DR41 B4DR41_HUMAN zinc finger protein 587B 207 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.F207I(1) TGTGTCTCCCTTTCAGTGTGG 0.493000 4 39 0 0 1 0 0 SLC16A11 162515 broad.mit.edu 37 17 6946803 6946803 + Silent SNP A A G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr17:6946803A>G ENST00000308009.1 - 1 439 c.102T>C c.(100-102)gaT>gaC p.D34D SLC16A11_ENST00000447225.1_Silent_p.D10D NM_153357.1 NP_699188.1 Q8NCK7 MOT11_HUMAN solute carrier family 16, member 11 34 integral to membrane|plasma membrane symporter activity endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2) 9 CCCAGCCCCCATCCGGGGGTC 0.706000 6 26 0 0 1 0 0 PHKA2 5256 broad.mit.edu 37 X 18972448 18972448 + Missense_Mutation SNP A A C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chrX:18972448A>C ENST00000379942.4 - 2 826 c.161T>G c.(160-162)gTg>gGg p.V54G NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 54 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) CAGGCCCCACACGGCCAGGAT 0.567000 27 47 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56568509 56568509 + Silent SNP T T G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr12:56568509T>G ENST00000394023.3 - 16 1527 c.1422A>C c.(1420-1422)cgA>cgC p.R474R RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Silent_p.R474R|SMARCC2_ENST00000550164.1_Silent_p.R474R|SMARCC2_ENST00000267064.4_Silent_p.R474R NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 474 SWIRM. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) GGGGGTTCAGTCGGTAAGTGT 0.468000 14 147 0 0 1 0 0 ZNF622 90441 broad.mit.edu 37 5 16463618 16463618 + Missense_Mutation SNP C C G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr5:16463618C>G ENST00000308683.2 - 2 985 c.859G>C c.(859-861)Gat>Cat p.D287H NM_033414.2 NP_219482.1 Q969S3 ZN622_HUMAN zinc finger protein 622 287 cytoplasm|nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 CCCTTAATATCTGAAAGATAT 0.368000 15 84 0 0 1 0 0 MT-ATP6 4508 broad.mit.edu 37 MT 9061 9061 + Silent SNP C C T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chrM:9061C>T ENST00000361899.2 + 1 535 c.535C>T c.(535-537)Cta>Tta p.L179L mitochondrially encoded ATP synthase 6 breast(2)|endometrium(7)|kidney(8)|prostate(1) 18 GAAGCGCCACCCTAGCAATAT 0.458000 9 358 0 0 1 0 0 XPNPEP3 63929 broad.mit.edu 37 22 41320470 41320470 + Silent SNP A A C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr22:41320470A>C ENST00000357137.4 + 9 1425 c.1341A>C c.(1339-1341)gtA>gtC p.V447V XPNPEP3_ENST00000544094.1_Silent_p.V424V NM_022098.3 NP_071381.1 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, putative 447 cellular process mitochondrion aminopeptidase activity|manganese ion binding|metallopeptidase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 17 CTGGGATGGTAATCACAATTG 0.473000 9 31 0 0 1 0 0 RRNAD1 51093 broad.mit.edu 37 1 156702121 156702121 + Missense_Mutation SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:156702121G>A ENST00000524343.1 + 2 305 c.160G>A c.(160-162)Gtg>Atg p.V54M RRNAD1_ENST00000368218.4_Silent_p.A95A|RRNAD1_ENST00000476229.1_5'UTR|RRNAD1_ENST00000368216.4_Silent_p.A95A Q96FB5 RRNAD_HUMAN ribosomal RNA adenine dimethylase domain containing 1 0 integral to membrane rRNA (adenine-N6,N6-)-dimethyltransferase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3) 9 AGTCCACGGCGTGTGCCCTGG 0.592000 17 48 0 0 1 0 0 RPL21 6144 broad.mit.edu 37 13 27827919 27827919 + Silent SNP G G A rs112351536 TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr13:27827919G>A ENST00000311549.6 + 2 295 c.6G>A c.(4-6)acG>acA p.T2T RPL21_ENST00000319826.4_Silent_p.T2T|RPL21_ENST00000326092.4_Silent_p.T2T|RPL21_ENST00000272274.4_Silent_p.T2T NM_000982.3 NP_000973.2 P46778 RL21_HUMAN ribosomal protein L21 2 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome large_intestine(1)|lung(1) 2 Lung SC(185;0.0156) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21) CCAAAATGACGAACACAAAGG 0.418000 8 39 0 0 1 0 0 GPR97 222487 broad.mit.edu 37 16 57717867 57717867 + Nonsense_Mutation SNP C C G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr16:57717867C>G ENST00000333493.4 + 9 1066 c.905C>G c.(904-906)tCa>tGa p.S302* GPR97_ENST00000327655.6_Nonsense_Mutation_p.S92*|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Nonsense_Mutation_p.S182* NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 302 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 AGGTTCAAGTCAGAAGATGCC 0.597000 13 49 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131199330 131199330 + Missense_Mutation SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr6:131199330G>A ENST00000337057.3 - 14 2138 c.1957C>T c.(1957-1959)Cgc>Tgc p.R653C EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000530757.1_Missense_Mutation_p.R52C|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R653C|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.R31C|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527659.1_Intron NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 653 Spectrin--actin-binding. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) ATAAAATTGCGCTTGAGTTCA 0.458000 20 28 0 0 1 0 0 GET4 51608 broad.mit.edu 37 7 933563 933563 + Missense_Mutation SNP T T G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr7:933563T>G ENST00000407192.1 + 7 3208 c.691T>G c.(691-693)Ttc>Gtc p.F231V GET4_ENST00000265857.3_Missense_Mutation_p.F284V Q7L5D6 GET4_HUMAN golgi to ER traffic protein 4 homolog (S. cerevisiae) 284 tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex protein binding breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 ACAGCTGTTCTTCGGCGTCCC 0.692000 12 34 0 0 1 0 0 CELA2B 51032 broad.mit.edu 37 1 15812530 15812530 + Missense_Mutation SNP T T C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:15812530T>C ENST00000375910.3 + 6 653 c.628T>C c.(628-630)Tgc>Cgc p.C210R NM_015849.2 NP_056933.2 P08218 CEL2B_HUMAN chymotrypsin-like elastase family, member 2B 210 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 TGGCGTGATATGCACCTGCAA 0.562000 55 173 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6360 6360 + Missense_Mutation SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chrM:6360G>A ENST00000361624.2 + 1 457 c.457G>A c.(457-459)Gca>Aca p.153_153insT mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 CCTTACACCTAGCAGGTGTCT 0.502000 6 383 0 0 1 0 0 SIAH1 6477 broad.mit.edu 37 16 48395562 48395562 + Missense_Mutation SNP C C G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr16:48395562C>G ENST00000380006.2 - 1 2231 c.778G>C c.(778-780)Gac>Cac p.D260H SIAH1_ENST00000394725.2_Missense_Mutation_p.D260H|SIAH1_ENST00000356721.3_Missense_Mutation_p.D291H|LONP2_ENST00000564259.1_3'UTR Q8IUQ4 SIAH1_HUMAN siah E3 ubiquitin protein ligase 1 260 SBD. axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis beta-catenin destruction complex|cytosol|nucleus protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1) 7 all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238) ATGCTGGTGTCAAAGACTAGA 0.418000 11 30 0 0 1 0 0 ZFP28 140612 broad.mit.edu 37 19 57065752 57065752 + Missense_Mutation SNP A A T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr19:57065752A>T ENST00000301318.3 + 8 1669 c.1598A>T c.(1597-1599)tAc>tTc p.Y533F AC007228.11_ENST00000596587.1_RNA NM_020828.1 NP_065879.1 Q8NHY6 ZFP28_HUMAN ZFP28 zinc finger protein 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) GAGAAACCTTACAAATGTGAT 0.418000 5 41 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1926933 1926933 + Missense_Mutation SNP T T G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr2:1926933T>G ENST00000399161.2 - 10 1355 c.608A>C c.(607-609)aAg>aCg p.K203T MYT1L_ENST00000428368.2_Missense_Mutation_p.K203T NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 203 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TAACAATGACTTGGCCACCAG 0.423000 4 33 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576730 158576730 + Missense_Mutation SNP T T G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:158576730T>G ENST00000361284.1 + 1 502 c.502T>G c.(502-504)Ttc>Gtc p.F168V NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) CCACCTCTCATTCTGCAGCTC 0.498000 27 107 0 0 1 0 0 MIOS 54468 broad.mit.edu 37 7 7625282 7625282 + Missense_Mutation SNP A A G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr7:7625282A>G ENST00000340080.4 + 7 2085 c.1664A>G c.(1663-1665)aAt>aGt p.N555S MIOS_ENST00000405785.1_Missense_Mutation_p.N555S NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 555 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTGAATCTCAATGTGGTAGCA 0.368000 53 66 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 28931761 28931761 + Silent SNP T T C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr13:28931761T>C ENST00000282397.4 - 15 2429 c.2178A>G c.(2176-2178)gaA>gaG p.E726E NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 726 Ig-like C2-type 7. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GATAGACACCTTCATCCTCTT 0.453000 20 71 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 15990171 15990171 + Missense_Mutation SNP A A C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr19:15990171A>C ENST00000221700.5 - 12 1477 c.1382T>G c.(1381-1383)tTc>tGc p.F461C CYP4F2_ENST00000592328.1_Missense_Mutation_p.F461C NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 461 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CCCTGCCGAGAAGGGAATAAA 0.577000 7 328 0 0 1 0 0 MT-ND6 4541 broad.mit.edu 37 MT 14261 14261 + Missense_Mutation SNP T T C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chrM:14261T>C ENST00000361681.2 - 1 412 c.413A>G c.(412-414)gAt>gGt p.D138G mitochondrially encoded NADH dehydrogenase 6 breast(1)|endometrium(10)|kidney(17)|urinary_tract(1) 29 CACCAATAGGATCCTCCCGAA 0.423000 286 17 0 0 1 0 0 KRT37 8688 broad.mit.edu 37 17 39580586 39580586 + Missense_Mutation SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr17:39580586G>A ENST00000225550.3 - 1 189 c.190C>T c.(190-192)Cgc>Tgc p.R64C AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 64 Head. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) AGGCTGGGGCGGCCCAGGGGA 0.642000 4 97 0 0 1 0 0 COLGALT2 23127 broad.mit.edu 37 1 183944241 183944241 + Missense_Mutation SNP T T C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:183944241T>C ENST00000361927.4 - 3 853 c.482A>G c.(481-483)gAc>gGc p.D161G COLGALT2_ENST00000546159.1_Missense_Mutation_p.D161G NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 CAGAATGTAGTCTGACCATTT 0.448000 29 45 0 0 1 0 0 SPTBN1 0 broad.mit.edu 37 2 54858342 54858342 + Missense_Mutation SNP A A C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr2:54858342A>C ENST00000333896.5 + 15 3504 c.3119A>C c.(3118-3120)aAc>aCc p.N1040T SPTBN1_ENST00000356805.4_Missense_Mutation_p.N1053T NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1053 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) ACCCTGAAAAACCGAGAGGCC 0.632000 5 129 0 0 1 0 0 MMP25 64386 broad.mit.edu 37 16 3107137 3107137 + Nonsense_Mutation SNP C C A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr16:3107137C>A ENST00000336577.4 + 5 1002 c.765C>A c.(763-765)taC>taA p.Y255* RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA NM_022468.4 NP_071913.1 Q9NPA2 MMP25_HUMAN matrix metallopeptidase 25 255 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 14 GGCCCTTCTACCAGGGTCCGG 0.642000 66 164 3.57465e-26 4.17459e-26 1 1 0 DRD3 1814 broad.mit.edu 37 3 113850128 113850128 + Missense_Mutation SNP C C G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr3:113850128C>G ENST00000383673.2 - 6 1273 c.843G>C c.(841-843)aaG>aaC p.K281N DRD3_ENST00000460779.1_Missense_Mutation_p.K281N|DRD3_ENST00000467632.1_Missense_Mutation_p.K281N|DRD3_ENST00000295881.7_Missense_Mutation_p.K281N NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 281 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) AATTCCGAGTCTTCTCCTCTC 0.522000 82 164 0 0 1 0 0 ATP11B 23200 broad.mit.edu 37 3 182584220 182584220 + Silent SNP A A G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr3:182584220A>G ENST00000323116.5 + 14 1868 c.1608A>G c.(1606-1608)gaA>gaG p.E536E NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 536 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) CTCTAGTAGAAGCTGCTGCAA 0.378000 33 77 0 0 1 0 0 UGT1A4 0 broad.mit.edu 37 2 234628129 234628129 + Silent SNP C C A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr2:234628129C>A ENST00000373409.3 + 1 706 c.663C>A c.(661-663)tcC>tcA p.S221S UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron NM_007120.2 NP_009051.1 autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) TGGCCCTGTCCTACATTTGCC 0.463000 28 183 2.48779e-11 2.71544e-11 1 1 0 ABCA13 154664 broad.mit.edu 37 7 48319344 48319344 + Silent SNP T T C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr7:48319344T>C ENST00000435803.1 + 18 8577 c.8553T>C c.(8551-8553)atT>atC p.I2851I NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2851 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TTTTTGAGATTTTCATTAAAG 0.348000 24 94 0 0 1 0 0 ZFP90 146198 broad.mit.edu 37 16 68597927 68597927 + Missense_Mutation SNP A A G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr16:68597927A>G ENST00000570495.1 + 5 1529 c.1237A>G c.(1237-1239)Atg>Gtg p.M413V ZFP90_ENST00000563169.2_Missense_Mutation_p.M413V|ZFP90_ENST00000398253.2_Missense_Mutation_p.M413V|RP11-615I2.7_ENST00000571720.1_RNA Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 413 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) TTATAAACATATGAGGATTCA 0.428000 13 67 0 0 1 0 0 CLCNKA 0 broad.mit.edu 37 1 16356552 16356552 + Missense_Mutation SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:16356552G>A ENST00000375692.1 + 15 1518 c.1390G>A c.(1390-1392)Ggg>Agg p.G464R CLCNKA_ENST00000420078.1_Missense_Mutation_p.G464R|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G421R|CLCNKA_ENST00000331433.4_Missense_Mutation_p.G464R P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 464 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity p.Y466fs*25(1) breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CATCATGCCCGGGGGGTATGC 0.657000 4 38 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230667108 230667108 + Silent SNP A A G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr2:230667108A>G ENST00000283943.5 - 20 3019 c.2841T>C c.(2839-2841)tgT>tgC p.C947C TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Silent_p.C677C|TRIP12_ENST00000389044.4_Silent_p.C995C NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 947 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) ATCCATTCGTACATGCCTTTG 0.473000 10 89 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137620521 137620521 + Silent SNP G G T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr9:137620521G>T ENST00000371817.3 + 6 1206 c.792G>T c.(790-792)acG>acT p.T264T NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 264 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TTCAGTACACGGAAGGAGACG 0.612000 36 155 1.06647e-15 1.20338e-15 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77767179 77767179 + Silent SNP T T C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr8:77767179T>C ENST00000521891.2 + 10 8470 c.8022T>C c.(8020-8022)caT>caC p.H2674H ZFHX4_ENST00000455469.2_Silent_p.H2629H|ZFHX4_ENST00000050961.6_Silent_p.H2629H|ZFHX4_ENST00000518282.1_Silent_p.H2648H NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2629 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CACAGTCTCATAAACGGTGTC 0.542000 HNSCC(33;0.089) 23 96 0 0 1 0 0 ASCL1 429 broad.mit.edu 37 12 103352601 103352601 + Silent SNP C C A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr12:103352601C>A ENST00000266744.3 + 1 1138 c.579C>A c.(577-579)atC>atA p.I193I NM_004316.3 NP_004307.2 P50553 ASCL1_HUMAN achaete-scute family bHLH transcription factor 1 193 cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity NS(3)|large_intestine(1)|lung(1) 5 CGCCCACCATCTCCCCCAACT 0.672000 17 52 1.99824e-07 2.15294e-07 1 1 0 PAQR7 164091 broad.mit.edu 37 1 26190027 26190027 + Missense_Mutation SNP G G T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:26190027G>T ENST00000374296.3 - 2 970 c.304C>A c.(304-306)Cca>Aca p.P102T NM_178422.5 NP_848509.1 Q86WK9 MPRA_HUMAN progestin and adipoQ receptor family member VII 102 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 9 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649) AGGGCGTGTGGGTCTCCCCAG 0.612000 22 93 3.62473e-10 3.93072e-10 1 1 0 NPR1 4881 broad.mit.edu 37 1 153660533 153660533 + Silent SNP C C A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:153660533C>A ENST00000368680.3 + 15 2725 c.2253C>A c.(2251-2253)atC>atA p.I751I NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 751 Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) ATACAGAGATCATCGAGCGGG 0.657000 62 108 3.07281e-33 3.6138e-33 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 5 86 0 0 1 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60241050 60241050 + Translation_Start_Site SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr5:60241050G>A ENST00000296597.5 + 0 95 NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TGCGGGTCCCGCTGCTGGCAG 0.632000 3 23 0 0 1 0 0 HOXD9 3235 broad.mit.edu 37 2 176987826 176987826 + Silent SNP C C T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr2:176987826C>T ENST00000249499.6 + 1 739 c.330C>T c.(328-330)tcC>tcT p.S110S HOXD-AS2_ENST00000440016.2_RNA NM_014213.3 NP_055028.3 P28356 HXD9_HUMAN homeobox D9 110 nucleus sequence-specific DNA binding endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) CCTCTGCCTCCGAGCCCGGCC 0.796000 6 10 0 0 1 0 0 EDNRB 1910 broad.mit.edu 37 13 78475270 78475270 + Missense_Mutation SNP A A C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr13:78475270A>C ENST00000377211.4 - 5 1296 c.1144T>G c.(1144-1146)Ttt>Gtt p.F382V EDNRB_ENST00000446573.1_Missense_Mutation_p.F292V|EDNRB_ENST00000334286.5_Missense_Mutation_p.F292V NM_001201397.1 NP_001188326.1 P24530 EDNRB_HUMAN endothelin receptor type B 292 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) AGTGTATAAAAAAATGCAGTG 0.338000 4 34 0 0 1 0 0 NRN1 51299 broad.mit.edu 37 6 6002646 6002646 + Missense_Mutation SNP T T C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr6:6002646T>C ENST00000244766.2 - 2 357 c.140A>G c.(139-141)gAc>gGc p.D47G NRN1_ENST00000495850.1_5'UTR NM_016588.2 NP_057672.1 Q9NPD7 NRN1_HUMAN neuritin 1 47 anchored to membrane|plasma membrane endometrium(2)|large_intestine(2)|lung(4) 8 Ovarian(93;0.0816) all_hematologic(90;0.151) OV - Ovarian serous cystadenocarcinoma(45;0.00415) GGCCATGCTGTCGCCCAGCTT 0.612000 33 146 0 0 1 0 0 CWF19L2 143884 broad.mit.edu 37 11 107205621 107205621 + Missense_Mutation SNP C C A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr11:107205621C>A ENST00000282251.5 - 16 2452 c.2425G>T c.(2425-2427)Gat>Tat p.D809Y NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) 809 catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) TTTCTGATATCTTTTGAAGAG 0.333000 31 43 8.88839e-20 1.01669e-19 1 1 0 FARSA 2193 broad.mit.edu 37 19 13039265 13039265 + Silent SNP G G T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr19:13039265G>T ENST00000588025.1 - 8 992 c.852C>A c.(850-852)acC>acA p.T284T FARSA_ENST00000314606.4_Silent_p.T244T|FARSA_ENST00000423140.2_Silent_p.T213T Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 244 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 20 L-Phenylalanine(DB00120) TCGGCATCTCGGTGAACCTGG 0.607000 25 62 1.42536e-11 1.56602e-11 1 1 0 CCL13 6357 broad.mit.edu 37 17 32685137 32685137 + Missense_Mutation SNP C C G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr17:32685137C>G ENST00000225844.2 + 3 359 c.284C>G c.(283-285)aCc>aGc p.T95S NM_005408.2 NP_005399.1 Q99616 CCL13_HUMAN chemokine (C-C motif) ligand 13 95 AHTLKT -> LTP (in Ref. 12; CAB01111). cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response extracellular space chemokine activity|signal transducer activity large_intestine(1)|prostate(1) 2 Ovarian(249;0.0443)|Breast(31;0.151) AAAGCTCACACCCTGAAGACT 0.483000 11 51 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179615491 179615491 + Missense_Mutation SNP G G T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr2:179615491G>T ENST00000360870.5 - 46 11858 c.11636C>A c.(11635-11637)gCc>gAc p.A3879D TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9701 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGATTCGCTGGCATGTGGTGT 0.358000 13 40 9.31168e-06 9.90478e-06 1 1 0 DAGLA 747 broad.mit.edu 37 11 61511823 61511823 + Silent SNP G G C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr11:61511823G>C ENST00000257215.5 + 20 3107 c.2991G>C c.(2989-2991)tcG>tcC p.S997S NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 997 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) TCAGCTCCTCGGGTGAGCTCA 0.677000 23 90 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153659705 153659705 + Missense_Mutation SNP C C G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:153659705C>G ENST00000368680.3 + 13 2437 c.1965C>G c.(1963-1965)atC>atG p.I655M NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 655 Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) ATGGGGCTATCTGTTCCCATG 0.562000 58 137 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108366950 108366950 + Nonsense_Mutation SNP T T A rs144896133 TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr10:108366950T>A ENST00000263054.6 - 23 3146 c.3139A>T c.(3139-3141)Aaa>Taa p.K1047* SORCS1_ENST00000344440.6_Nonsense_Mutation_p.K1047*|SORCS1_ENST00000369698.1_Nonsense_Mutation_p.K582*|SORCS1_ENST00000478809.2_5'UTR NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 1047 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GTTGACCTTTTGTTTTCTCCA 0.522000 18 42 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1389323 1389323 + Missense_Mutation SNP G G A rs71299249 byFrequency TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr4:1389323G>A ENST00000324803.4 + 1 3984 c.1024G>A c.(1024-1026)Gcc>Acc p.A342T NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 342 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) TGGAGTGCCCGCCTGCTCACA 0.667000 6 409 0 0 1 0 0 OR9G4 283189 broad.mit.edu 37 11 56510657 56510657 + Missense_Mutation SNP C C T rs147669235 TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr11:56510657C>T ENST00000302957.3 - 1 630 c.631G>A c.(631-633)Gaa>Aaa p.E211K NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E211K(1) NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 AGGACTTTTTCGTAGACCCTG 0.438000 14 58 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24581363 24581363 + Missense_Mutation SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr16:24581363G>A ENST00000319715.4 + 17 3784 c.3352G>A c.(3352-3354)Gtc>Atc p.V1118I RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.V1084I NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 1118 Interaction with RB1 (By similarity). protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) TTCCAAAGATGTCAAATCAGA 0.363000 5 19 0 0 1 0 0 ITGB1 3688 broad.mit.edu 37 10 33200429 33200429 + Missense_Mutation SNP T T A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr10:33200429T>A ENST00000396033.2 - 13 2013 c.1878A>T c.(1876-1878)caA>caT p.Q626H ITGB1_ENST00000374956.4_Missense_Mutation_p.Q626H|ITGB1_ENST00000423113.1_Missense_Mutation_p.Q626H|ITGB1_ENST00000302278.3_Missense_Mutation_p.Q626H NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 626 Cysteine-rich tandem repeats. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) ACGTTTGCCCTTGAAACTTCG 0.468000 28 144 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103900434 103900434 + Silent SNP C C A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr10:103900434C>A ENST00000278070.2 + 5 2208 c.2169C>A c.(2167-2169)atC>atA p.I723I PPRC1_ENST00000413464.2_Silent_p.I723I NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 723 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) AGACCATCATCCCTGAAGTCA 0.537000 22 146 7.45023e-12 8.23965e-12 1 1 0 PJA2 9867 broad.mit.edu 37 5 108680479 108680479 + Missense_Mutation SNP C C G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr5:108680479C>G ENST00000361189.2 - 8 2045 c.1806G>C c.(1804-1806)gaG>gaC p.E602D PJA2_ENST00000361557.3_Missense_Mutation_p.E602D NM_014819.4 NP_055634.3 O43164 PJA2_HUMAN praja ring finger 2, E3 ubiquitin protein ligase 602 Interaction with PRKAR1A, PRKAR2A and PRKAR2B. long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) GATTGGCCACCTCAACATCCA 0.408000 9 87 0 0 1 0 0 XXbac-BPG308J9.3 0 broad.mit.edu 37 6 29230602 29230602 + RNA SNP T T C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr6:29230602T>C ENST00000441381.1 + 0 79 CCATAGAAGATGGATACCACA 0.423000 13 65 0 0 1 0 0 LPHN1 22859 broad.mit.edu 37 19 14261831 14261831 + Missense_Mutation SNP G G C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr19:14261831G>C ENST00000340736.6 - 24 4576 c.4279C>G c.(4279-4281)Cgc>Ggc p.R1427G LPHN1_ENST00000361434.3_Missense_Mutation_p.R1422G|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 1427 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GCTGGCGGGCGCGAGGTGTAG 0.731000 3 12 0 0 1 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171849420 171849420 + Splice_Site SNP C C T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr5:171849420C>T ENST00000311601.5 - 2 326 c.156_splice c.e2+1 p.Q52_splice SH3PXD2B_ENST00000519643.1_Splice_Site_p.Q52_splice NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 52 PX. adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AAATCCTTACCTGGAGGTCAA 0.498000 4 15 0 0 1 0 0 C1orf87 127795 broad.mit.edu 37 1 60520989 60520989 + Missense_Mutation SNP T T C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:60520989T>C ENST00000371201.3 - 3 336 c.229A>G c.(229-231)Act>Gct p.T77A C1orf87_ENST00000450089.2_Missense_Mutation_p.T77A NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 77 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GGATTATCAGTGGTTTGCTGA 0.423000 46 136 0 0 1 0 0 MT-CYB 4519 broad.mit.edu 37 MT 15100 15100 + Missense_Mutation SNP C C T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chrM:15100C>T ENST00000361789.2 + 1 354 c.354C>T c.(352-354)atC>atT p.118_118insI mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 ATCGGCATTATCCTCCTGCTT 0.453000 OREG0007583 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 10 324 0 0 1 0 0 CYTH1 9267 broad.mit.edu 37 17 76694918 76694918 + Missense_Mutation SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr17:76694918G>A ENST00000589297.1 - 8 1198 c.506C>T c.(505-507)cCg>cTg p.P169L CYTH1_ENST00000591455.1_Missense_Mutation_p.P228L|CYTH1_ENST00000585509.1_Missense_Mutation_p.P169L|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000446868.3_Missense_Mutation_p.P228L|CYTH1_ENST00000361101.4_Missense_Mutation_p.P228L Q15438 CYH1_HUMAN cytohesin 1 228 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 19 GAGCTCCTCCGGCAGGTCTCC 0.483000 75 194 0 0 1 0 0 DAB2IP 153090 broad.mit.edu 37 9 124535481 124535481 + Missense_Mutation SNP C C G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr9:124535481C>G ENST00000408936.3 + 12 2856 c.2674C>G c.(2674-2676)Cga>Gga p.R892G DAB2IP_ENST00000309989.1_Missense_Mutation_p.R768G|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R864G Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 892 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 GCTGGCACGGCGACAGATGTC 0.677000 3 7 0 0 1 0 0 CCDC159 126075 broad.mit.edu 37 19 11462749 11462749 + Silent SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr19:11462749G>A ENST00000588790.1 + 9 954 c.507G>A c.(505-507)gaG>gaA p.E169E CCDC159_ENST00000458408.1_Silent_p.E169E P0C7I6 CC159_HUMAN coiled-coil domain containing 159 284 endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 5 AGGAGGATGAGATCTCAGAGA 0.582000 11 61 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42050036 42050036 + Missense_Mutation SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:42050036G>A ENST00000372584.1 - 3 1447 c.433C>T c.(433-435)Ctt>Ttt p.L145F HIVEP3_ENST00000429157.2_Missense_Mutation_p.L145F|HIVEP3_ENST00000372583.1_Missense_Mutation_p.L145F|HIVEP3_ENST00000247584.5_Missense_Mutation_p.L145F NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 145 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TGGGAAGGAAGGAGCTGGCTC 0.612000 40 177 0 0 1 0 0 NSDHL 50814 broad.mit.edu 37 X 152037350 152037350 + Missense_Mutation SNP A A C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chrX:152037350A>C ENST00000370274.3 + 8 1006 c.812A>C c.(811-813)gAg>gCg p.E271A NSDHL_ENST00000440023.1_Missense_Mutation_p.E271A NM_015922.2 NP_057006.1 Q15738 NSDHL_HUMAN NAD(P) dependent steroid dehydrogenase-like 271 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5) 15 Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) ACCAATGATGAGCCCATCCCT 0.532000 22 217 0 0 1 0 0 NAPG 8774 broad.mit.edu 37 18 10540013 10540013 + Missense_Mutation SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr18:10540013G>A ENST00000322897.6 + 7 466 c.397G>A c.(397-399)Gct>Act p.A133T NAPG_ENST00000542979.1_Missense_Mutation_p.A51T NM_003826.2 NP_003817.1 Q99747 SNAG_HUMAN N-ethylmaleimide-sensitive factor attachment protein, gamma 133 cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization membrane|membrane fraction|mitochondrion protein binding large_intestine(2)|lung(2) 4 TCCAGAGAAGGCTGTACAGTT 0.289000 6 11 0 0 1 0 0 SERTM1 400120 broad.mit.edu 37 13 37269482 37269482 + Silent SNP T T C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr13:37269482T>C ENST00000315190.3 + 2 713 c.267T>C c.(265-267)aaT>aaC p.N89N NM_203451.2 NP_982276.2 A2A2V5 CM036_HUMAN serine-rich and transmembrane domain containing 1 89 integral to membrane CTTTCACCAATTTGGAAGTCT 0.453000 23 66 0 0 1 0 0 MYF6 4618 broad.mit.edu 37 12 81101831 81101831 + Missense_Mutation SNP G G C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr12:81101831G>C ENST00000228641.3 + 1 555 c.333G>C c.(331-333)gaG>gaC p.E111D NM_002469.2 NP_002460.1 P23409 MYF6_HUMAN myogenic factor 6 (herculin) 111 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 AAATCAACGAGGCCTTCGAGG 0.587000 6 73 0 0 1 0 0 C17orf59 54785 broad.mit.edu 37 17 8092945 8092945 + Silent SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr17:8092945G>A ENST00000389017.4 - 1 619 c.514C>T c.(514-516)Ctg>Ttg p.L172L NM_017622.2 NP_060092.2 Q96GS4 CQ059_HUMAN chromosome 17 open reading frame 59 172 large_intestine(2)|lung(3)|urinary_tract(1) 6 GCCTCGCTCAGCCCGTCCAGG 0.736000 12 28 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34926321 34926321 + Missense_Mutation SNP C C T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr21:34926321C>T ENST00000356577.4 + 3 5259 c.4784C>T c.(4783-4785)tCt>tTt p.S1595F SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.S1595F|SON_ENST00000381679.4_Missense_Mutation_p.S1595F|SON_ENST00000300278.4_Missense_Mutation_p.S1595F NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 1595 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 ACTCTATCTTCTACTGGTCCT 0.413000 26 64 0 0 1 0 0 TBCEL 219899 broad.mit.edu 37 11 120925929 120925929 + Silent SNP C C A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr11:120925929C>A ENST00000422003.2 + 5 812 c.624C>A c.(622-624)gcC>gcA p.A208A TBCEL_ENST00000529397.1_Silent_p.A208A NM_152715.3 NP_689928.3 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like 208 cytoplasm|cytoskeleton TECTA/TBCEL(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) TCGTCCTGGCCAACAATCATT 0.438000 9 43 0.000274275 0.000286275 1 1 0 EPS15 2060 broad.mit.edu 37 1 51868137 51868137 + Missense_Mutation SNP C C A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:51868137C>A ENST00000371733.3 - 18 1948 c.1852G>T c.(1852-1854)Gat>Tat p.D618Y EPS15_ENST00000371730.2_Missense_Mutation_p.D484Y|EPS15_ENST00000396122.4_Missense_Mutation_p.D295Y NM_001981.2 NP_001972.1 P42566 EPS15_HUMAN epidermal growth factor receptor pathway substrate 15 618 15 X 3 AA repeats of D-P-F. cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding p.0?(2) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 TGGAAAAAATCCAAGTTTGTA 0.269000 T MLL ALL 22 88 7.16444e-05 7.52491e-05 1 1 0 MT-ND1 4535 broad.mit.edu 37 MT 3646 3646 + Missense_Mutation SNP T T C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chrM:3646T>C ENST00000361390.2 + 1 340 c.340T>C c.(340-342)Tac>Cac p.114_114insH mitochondrially encoded NADH dehydrogenase 1 breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 GCCTAGCCGTTTACTCAATCC 0.522000 6 361 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152733337 152733337 + Nonsense_Mutation SNP C C T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:152733337C>T ENST00000368773.1 + 2 1331 c.1273C>T c.(1273-1275)Cga>Tga p.R425* KPRP_ENST00000606109.1_Nonsense_Mutation_p.R425* NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 425 Pro-rich. cytoplasm p.R425*(1) NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTCTACCACGACAACTTTC 0.577000 121 265 0 0 1 0 0 SLC12A3 0 broad.mit.edu 37 16 56918049 56918049 + Missense_Mutation SNP G G C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr16:56918049G>C ENST00000438926.2 + 14 1787 c.1758G>C c.(1756-1758)tgG>tgC p.W586C SLC12A3_ENST00000566786.1_Missense_Mutation_p.W585C|SLC12A3_ENST00000262502.5_Missense_Mutation_p.W585C|SLC12A3_ENST00000563236.1_Missense_Mutation_p.W586C NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 586 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) TCCTCACCTGGTGGGCGGCCC 0.602000 10 63 0 0 1 0 0 PCDHA9 0 broad.mit.edu 37 5 140229832 140229832 + Silent SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr5:140229832G>A ENST00000378122.3 + 1 2476 c.1752G>A c.(1750-1752)tcG>tcA p.S584S PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.S584S|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTGCGGTCGGTGGGCGCCG 0.667000 58 130 0 0 1 0 0 ZNF37A 7587 broad.mit.edu 37 10 38406502 38406502 + Missense_Mutation SNP T T G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr10:38406502T>G ENST00000351773.3 + 8 1253 c.423T>G c.(421-423)aaT>aaG p.N141K ZNF37A_ENST00000361085.4_Missense_Mutation_p.N141K NM_001007094.2 NP_001007095.1 P17032 ZN37A_HUMAN zinc finger protein 37A 141 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 AAATTAAAAATTGGGAACAAT 0.358000 23 87 0 0 1 0 0 RASA1 5921 broad.mit.edu 37 5 86668014 86668014 + Splice_Site SNP T T C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr5:86668014T>C ENST00000456692.2 + 13 1360 c.e13+2 RASA1_ENST00000506290.1_Splice_Site|RASA1_ENST00000512763.1_Splice_Site|RASA1_ENST00000274376.6_Splice_Site NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) CTTCGTCAGGTGAAGCTTAAT 0.363000 10 17 0 0 1 0 0 CCDC6 8030 broad.mit.edu 37 10 61666143 61666143 + Missense_Mutation SNP C C G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr10:61666143C>G ENST00000263102.6 - 1 271 c.40G>C c.(40-42)Ggg>Cgg p.G14R NM_005436.4 NP_005427.2 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 14 cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton CCDC6/RET(4) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1) 18 Kidney(211;0.0597) CTGTTGCCCCCCGCCCCGTCC 0.776000 T RET NSCLC 7 27 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9064668 9064668 + Missense_Mutation SNP G G C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr19:9064668G>C ENST00000397910.4 - 3 22981 c.22778C>G c.(22777-22779)tCc>tGc p.S7593C NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7595 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGACATTGTGGACTGCTCAGG 0.483000 14 88 0 0 1 0 0 KRT18 3875 broad.mit.edu 37 12 53343316 53343316 + Missense_Mutation SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr12:53343316G>A ENST00000550600.1 + 2 413 c.359G>A c.(358-360)gGa>gAa p.G120E KRT8_ENST00000546897.1_Intron|KRT18_ENST00000388835.3_Missense_Mutation_p.G120E|KRT8_ENST00000552551.1_5'UTR|KRT8_ENST00000549198.1_5'UTR|KRT18_ENST00000388837.2_Missense_Mutation_p.G120E P05783 K1C18_HUMAN keratin 18 120 Interaction with TRADD.|Linker 1.|Necessary for interaction with PNN.|Rod. anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 11 GAGAAGAAGGGACCCCAGGTC 0.587000 21 84 0 0 1 0 0 PLAG1 5324 broad.mit.edu 37 8 57079313 57079313 + Missense_Mutation SNP G G T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr8:57079313G>T ENST00000316981.3 - 5 1471 c.992C>A c.(991-993)tCt>tAt p.S331Y PLAG1_ENST00000429357.2_Missense_Mutation_p.S331Y|PLAG1_ENST00000423799.2_Missense_Mutation_p.S249Y NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 331 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) ATATTTGAAAGAAAGGTGGTG 0.418000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 33 262 9.78485e-24 1.13477e-23 1 1 0 ACTL9 284382 broad.mit.edu 37 19 8807988 8807988 + Missense_Mutation SNP C C T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr19:8807988C>T ENST00000324436.3 - 1 1184 c.1064G>A c.(1063-1065)cGg>cAg p.R355Q NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 355 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 CAGCTCTGCCCGGAAGCGACC 0.652000 26 72 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr17:7577539G>A ENST00000420246.2 - 7 874 c.742C>T c.(742-744)Cgg>Tgg p.R248W TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGGCCTCCGGTTCATGCCG 0.577000 R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 35 33 0 0 1 0 0 HNRNPD 3184 broad.mit.edu 37 4 83279884 83279884 + Missense_Mutation SNP T T A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr4:83279884T>A ENST00000313899.7 - 4 826 c.549A>T c.(547-549)aaA>aaT p.K183N HNRNPD_ENST00000353341.4_Missense_Mutation_p.K183N|HNRNPD_ENST00000541060.1_Missense_Mutation_p.K29N|HNRNPD_ENST00000543098.1_Missense_Mutation_p.K131N|HNRNPD_ENST00000352301.4_Missense_Mutation_p.K164N NM_031370.2 NP_112738.1 Q14103 HNRPD_HUMAN heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) 183 RRM 2. nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|telomeric DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1) 7 CAACAAAAATTTTTTTAACCG 0.368000 19 70 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38431442 38431442 + Silent SNP C C T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr7:38431442C>T ENST00000356264.2 - 19 2000 c.1785G>A c.(1783-1785)caG>caA p.Q595Q AMPH_ENST00000428293.2_Silent_p.Q553Q|AMPH_ENST00000325590.5_Silent_p.Q553Q NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 595 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 AAGGCGTGGGCTGAGGGTCCT 0.632000 20 74 0 0 1 0 0 OR8D1 283159 broad.mit.edu 37 11 124180410 124180410 + Missense_Mutation SNP A A C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr11:124180410A>C ENST00000357821.2 - 1 323 c.253T>G c.(253-255)Ttc>Gtc p.F85V NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) TTTCCTAGGAAGTTCACCAGC 0.468000 16 44 0 0 1 0 0 PAMR1 25891 broad.mit.edu 37 11 35454241 35454241 + Missense_Mutation SNP C C T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr11:35454241C>T ENST00000378880.2 - 11 2271 c.1826G>A c.(1825-1827)aGc>aAc p.S609N PAMR1_ENST00000532848.1_Missense_Mutation_p.S569N|PAMR1_ENST00000278360.3_Missense_Mutation_p.S626N|PAMR1_ENST00000378878.3_Missense_Mutation_p.S498N NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 609 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 GAAGCCAGGGCTCCTCACGTC 0.607000 11 43 0 0 1 0 0 PPIC 5480 broad.mit.edu 37 5 122365082 122365082 + Missense_Mutation SNP T T C rs45449493 TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr5:122365082T>C ENST00000306442.4 - 2 264 c.149A>G c.(148-150)gAt>gGt p.D50G NM_000943.4 NP_000934.1 P45877 PPIC_HUMAN peptidylprolyl isomerase C (cyclophilin C) 50 PPIase cyclophilin-type. protein folding|signal transduction cytoplasm cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 6 all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505) L-Proline(DB00172) TCTGCCAACATCTTTGTCTCC 0.398000 10 69 0 0 1 0 0 BRPF1 7862 broad.mit.edu 37 3 9786709 9786709 + Missense_Mutation SNP T T G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr3:9786709T>G ENST00000383829.2 + 10 3342 c.2938T>G c.(2938-2940)Ttc>Gtc p.F980V BRPF1_ENST00000457855.1_Missense_Mutation_p.F974V|BRPF1_ENST00000433861.2_Missense_Mutation_p.F879V|BRPF1_ENST00000302054.3_Missense_Mutation_p.F974V|BRPF1_ENST00000424362.1_Missense_Mutation_p.F973V NM_001003694.1 NP_001003694.1 P55201 BRPF1_HUMAN bromodomain and PHD finger containing, 1 974 Required for RUNX1 and RUNX2 transcriptional activation. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) AGCCAATGGCTTCAGCGGTGG 0.527000 24 76 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6412 6412 + Missense_Mutation SNP A A G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chrM:6412A>G ENST00000361624.2 + 1 509 c.509A>G c.(508-510)aAt>aGt p.170_170insS mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 AACAATTATCAATATAAAACC 0.493000 291 18 0 0 1 0 0 HOXD10 3236 broad.mit.edu 37 2 176982219 176982219 + Missense_Mutation SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr2:176982219G>A ENST00000249501.4 + 1 913 c.658G>A c.(658-660)Gag>Aag p.E220K HOXD10_ENST00000490088.2_Intron NM_002148.3 NP_002139.2 P28358 HXD10_HUMAN homeobox D10 220 nucleus sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) GGAGAGCCCCGAGGCCAAAGG 0.622000 13 67 0 0 1 0 0 LCE1A 353131 broad.mit.edu 37 1 152799971 152799971 + Missense_Mutation SNP A A G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:152799971A>G ENST00000335123.2 + 1 23 c.23A>G c.(22-24)cAg>cGg p.Q8R NM_178348.2 NP_848125.1 Q5T7P2 LCE1A_HUMAN late cornified envelope 1A 8 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 8 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CAGAGCCAGCAGCAGTGCCAG 0.617000 20 319 0 0 1 0 0 RRAS2 22800 broad.mit.edu 37 11 14316390 14316390 + Missense_Mutation SNP T T A rs113954997 TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr11:14316390T>A ENST00000545643.1 - 3 546 c.233A>T c.(232-234)cAa>cTa p.Q78L RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000256196.4_Missense_Mutation_p.Q72L NM_012250.5 NP_036382.2 P62070 RRAS2_HUMAN related RAS viral (r-ras) oncogene homolog 2 72 endoplasmic reticulum|plasma membrane GTP binding|GTPase activity|protein binding p.Q72L(2) breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 12 Epithelial(150;0.203) AAACTCTTCTTGTCCTGCTGT 0.393000 88 91 0 0 1 0 0 PDCD4 27250 broad.mit.edu 37 10 112650324 112650324 + Missense_Mutation SNP G G T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr10:112650324G>T ENST00000393104.2 + 9 1213 c.853G>T c.(853-855)Gat>Tat p.D285Y PDCD4_ENST00000280154.7_Missense_Mutation_p.D296Y|PDCD4_ENST00000481353.1_3'UTR NM_145341.3 NP_663314.1 Q53EL6 PDCD4_HUMAN programmed cell death 4 (neoplastic transformation inhibitor) 296 apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent cytosol|nucleus protein binding|RNA binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 13 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) AGCTGCTCTGGATAAGGCTAC 0.408000 10 69 3.86212e-05 4.08211e-05 1 1 0 ITIH5 80760 broad.mit.edu 37 10 7605313 7605313 + Silent SNP T T C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr10:7605313T>C ENST00000256861.6 - 14 2640 c.2562A>G c.(2560-2562)gaA>gaG p.E854E ITIH5_ENST00000446830.2_Silent_p.E636E|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Silent_p.E640E NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 854 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 CTGCAGGGTCTTCTGTGAGTC 0.567000 5 45 0 0 1 0 0 APEX1 328 broad.mit.edu 37 14 20925652 20925652 + Silent SNP A A T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr14:20925652A>T ENST00000216714.3 + 5 1210 c.942A>T c.(940-942)ctA>ctT p.L314L APEX1_ENST00000555414.1_Silent_p.L314L|APEX1_ENST00000398030.4_Silent_p.L314L|APEX1_ENST00000557054.1_3'UTR NM_001244249.1|NM_001641.3 NP_001231178.1|NP_001632.2 P27695 APEX1_HUMAN APEX nuclease (multifunctional DNA repair enzyme) 1 314 Mitochondrial targeting sequence (MTS). base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome 3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity breast(2)|endometrium(1)|large_intestine(4)|ovary(2) 9 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) Lucanthone(DB04967) CTATCACCCTATACCTAGCAC 0.473000 Other BER factors 12 154 0 0 1 0 0 IRAK4 51135 broad.mit.edu 37 12 44165125 44165125 + Missense_Mutation SNP G G C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr12:44165125G>C ENST00000448290.2 + 3 335 c.264G>C c.(262-264)ttG>ttC p.L88F IRAK4_ENST00000551736.1_Missense_Mutation_p.L88F|IRAK4_ENST00000440781.2_Intron|IRAK4_ENST00000431837.1_Intron NM_016123.3 NP_057207.2 Q9NWZ3 IRAK4_HUMAN interleukin-1 receptor-associated kinase 4 88 Death. innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity all_cancers(12;0.00149) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.04) TGGATCTTTTGATCCAAAATG 0.418000 11 51 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871857 51871857 + Missense_Mutation SNP C C G rs143642849 TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr20:51871857C>G ENST00000371497.5 + 2 2747 c.1860C>G c.(1858-1860)caC>caG p.H620Q TSHZ2_ENST00000603338.2_Missense_Mutation_p.H617Q|TSHZ2_ENST00000329613.6_Missense_Mutation_p.H617Q NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 620 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AAAGTCCCCACGAAGAGGCCT 0.517000 35 113 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116594298 116594298 + Missense_Mutation SNP T T G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr2:116594298T>G ENST00000410059.1 + 24 2638 c.2158T>G c.(2158-2160)Tta>Gta p.L720V DPP10_ENST00000409163.1_Missense_Mutation_p.L670V|DPP10_ENST00000310323.8_Missense_Mutation_p.L713V|DPP10_ENST00000393147.2_Missense_Mutation_p.L724V NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 720 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 AGAAAATATATTAATAATTCA 0.338000 24 108 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152325523 152325523 + Missense_Mutation SNP G G C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:152325523G>C ENST00000388718.5 - 3 4811 c.4739C>G c.(4738-4740)aCt>aGt p.T1580S FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1580 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCACTGTCAGTGGACTCACT 0.507000 9 736 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36874297 36874297 + Silent SNP T T G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr3:36874297T>G ENST00000429976.2 - 21 6892 c.6645A>C c.(6643-6645)acA>acC p.T2215T TRANK1_ENST00000428977.2_Silent_p.T1665T|TRANK1_ENST00000301807.6_Silent_p.T1665T O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2215 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CATACATATCTGTAGACAAAA 0.388000 19 52 0 0 1 0 0 KIAA1033 23325 broad.mit.edu 37 12 105558018 105558018 + Missense_Mutation SNP C C G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr12:105558018C>G ENST00000332180.5 + 31 3374 c.3287C>G c.(3286-3288)gCc>gGc p.A1096G KIAA1033_ENST00000547171.1_3'UTR NM_015275.1 NP_056090.1 Q2M389 WAHS7_HUMAN KIAA1033 1096 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 GTACAGTCAGCCAGTCAAGAT 0.433000 7 32 0 0 1 0 0 ARHGEF25 115557 broad.mit.edu 37 12 58010124 58010124 + Missense_Mutation SNP G G A rs116051216 by1000genomes TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr12:58010124G>A ENST00000286494.4 + 14 1938 c.1478G>A c.(1477-1479)cGg>cAg p.R493Q AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.R532Q NM_182947.3 NP_891992.2 Q86VW2 ARHGP_HUMAN Rho guanine nucleotide exchange factor (GEF) 25 493 Sufficient to bind activated GNAQ. regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity p.R493Q(1) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 28 AGCCTGGGGCGGCCAAGAGGG 0.592000 47 66 0 0 1 0 0 UQCC 0 broad.mit.edu 37 20 33971845 33971845 + Missense_Mutation SNP C C T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr20:33971845C>T ENST00000397554.1 - 3 231 c.221G>A c.(220-222)cGt>cAt p.R74H UQCC_ENST00000397556.3_Intron|UQCC_ENST00000374384.2_Missense_Mutation_p.R74H|UQCC_ENST00000359226.2_Missense_Mutation_p.R74H|UQCC_ENST00000349714.5_Missense_Mutation_p.R74H|UQCC_ENST00000542501.1_Missense_Mutation_p.R74H|UQCC_ENST00000374385.5_Missense_Mutation_p.R74H|UQCC_ENST00000407996.2_Splice_Site|UQCC_ENST00000374380.2_Intron|UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000540457.1_Intron|UQCC_ENST00000374377.5_Intron Q9NVA1 UQCC_HUMAN 74 cytoplasmic membrane-bounded vesicle breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.00252) TCTCACCTTACGTGTGGTGTG 0.433000 8 24 0 0 1 0 0 ACTR3 10096 broad.mit.edu 37 2 114691916 114691916 + Missense_Mutation SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr2:114691916G>A ENST00000263238.2 + 6 813 c.493G>A c.(493-495)Ggt>Agt p.G165S ACTR3_ENST00000536059.1_Missense_Mutation_p.G103S|ACTR3_ENST00000535589.2_Missense_Mutation_p.G114S NM_001277140.1|NM_005721.3 NP_001264069.1|NP_005712.1 P61158 ARP3_HUMAN ARP3 actin-related protein 3 homolog (yeast) 165 cellular component movement|cilium morphogenesis Arp2/3 protein complex actin binding|ATP binding autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2) 15 GACGTTGACCGGTACGGTAAT 0.418000 86 117 0 0 1 0 0 AVIL 10677 broad.mit.edu 37 12 58197161 58197161 + Missense_Mutation SNP T T C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr12:58197161T>C ENST00000537081.1 - 15 1809 c.1810A>G c.(1810-1812)Atc>Gtc p.I604V AVIL_ENST00000550083.1_5'UTR|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Missense_Mutation_p.I611V O75366 AVIL_HUMAN advillin 611 Core (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6) 32 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) ACATCTAGGATTTCCTGCTGA 0.433000 OREG0021955 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 155 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176915124 176915124 + Missense_Mutation SNP G G T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:176915124G>T ENST00000367654.2 - 13 2224 c.2211C>A c.(2209-2211)ttC>ttA p.F737L ASTN1_ENST00000361833.2_Missense_Mutation_p.F729L|ASTN1_ENST00000367657.3_Missense_Mutation_p.F729L|ASTN1_ENST00000424564.2_Missense_Mutation_p.F729L|ASTN1_ENST00000281881.3_5'UTR O14525 ASTN1_HUMAN astrotactin 1 737 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TGTAACCAAAGAACATCTCCC 0.498000 5 133 0.014758 0.0148469 1 1 0 LILRB5 0 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_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 5 52 0 0 1 0 0 FASTKD3 79072 broad.mit.edu 37 5 7863053 7863053 + Missense_Mutation SNP G G C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr5:7863053G>C ENST00000264669.5 - 4 1718 c.1582C>G c.(1582-1584)Ctg>Gtg p.L528V FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron NM_024091.3 NP_076996.2 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 528 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GGGGTCTCCAGGGAACAGCAT 0.378000 71 167 0 0 1 0 0 GNRHR 0 broad.mit.edu 37 4 68619733 68619733 + Missense_Mutation SNP C C G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr4:68619733C>G ENST00000226413.4 - 1 345 c.321G>C c.(319-321)tgG>tgC p.W107C GNRHR_ENST00000420975.2_Missense_Mutation_p.W107C|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000502758.1_RNA NM_000406.2 NP_000397.1 P30968 GNRHR_HUMAN gonadotropin-releasing hormone receptor 107 multicellular organismal development integral to plasma membrane gonadotropin-releasing hormone receptor activity endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 13 Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666) CTCCAGCATACCATTGGACTG 0.473000 15 61 0 0 1 0 0 PIWIL3 440822 broad.mit.edu 37 22 25153946 25153946 + Missense_Mutation SNP A A G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr22:25153946A>G ENST00000332271.5 - 4 700 c.284T>C c.(283-285)aTt>aCt p.I95T PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_5'UTR|PIWIL3_ENST00000533313.1_5'UTR NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 95 cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 AACTCCACCAATCCTTCTCTC 0.438000 86 155 0 0 1 0 0 OTUD7A 161725 broad.mit.edu 37 15 31776314 31776314 + Missense_Mutation SNP C C A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr15:31776314C>A ENST00000382902.1 - 11 2077 c.1985G>T c.(1984-1986)gGc>gTc p.G662V OTUD7A_ENST00000307050.4_Missense_Mutation_p.G655V Q8TE49 OTU7A_HUMAN OTU domain containing 7A 655 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) CAGGTAGTAGCCGATCATCTC 0.721000 4 15 0.00116845 0.00120451 1 1 0 PIK3CG 5294 broad.mit.edu 37 7 106508093 106508093 + Silent SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr7:106508093G>A ENST00000359195.3 + 2 397 c.87G>A c.(85-87)gcG>gcA p.A29A PIK3CG_ENST00000496166.1_Silent_p.A29A|PIK3CG_ENST00000440650.2_Silent_p.A29A NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 29 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 GCAGTGCTGCGGCCAGCCTGT 0.637000 19 140 0 0 1 0 0 C10orf53 282966 broad.mit.edu 37 10 50901855 50901855 + Nonsense_Mutation SNP G G T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr10:50901855G>T ENST00000374113.3 + 2 180 c.133G>T c.(133-135)Gag>Tag p.E45* C10orf53_ENST00000535836.1_Nonsense_Mutation_p.E45*|C10orf53_ENST00000374112.3_Nonsense_Mutation_p.E45*|C10orf53_ENST00000374111.3_Nonsense_Mutation_p.E45*|CHAT_ENST00000455728.2_3'UTR Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 45 endometrium(1)|lung(6) 7 all_neural(218;0.107) GGTCATCCTAGAGAAGATAGA 0.473000 7 66 2.0095e-06 2.15119e-06 1 1 0 TLR7 51284 broad.mit.edu 37 X 12903969 12903969 + Missense_Mutation SNP G G T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chrX:12903969G>T ENST00000380659.3 + 3 481 c.342G>T c.(340-342)aaG>aaT p.K114N NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 114 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) TGTGCATCAAGAGGCTGCAGA 0.478000 39 80 9.62906e-15 1.07923e-14 1 1 0 HRNR 388697 broad.mit.edu 37 1 152191669 152191669 + Silent SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:152191669G>A ENST00000368801.2 - 3 2511 c.2436C>T c.(2434-2436)ggC>ggT p.G812G FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 812 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAGAAGCCTGGCCTGAGCCAG 0.572000 35 230 0 0 1 0 0 FAM5B 0 broad.mit.edu 37 1 177199126 177199126 + Silent SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:177199126G>A ENST00000361539.4 + 2 426 c.114G>A c.(112-114)gcG>gcA p.A38A NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 38 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CAGCCACGGCGGCTGCTGTGG 0.692000 33 46 0 0 1 0 0 VWA8 23078 broad.mit.edu 37 13 42293839 42293839 + Missense_Mutation SNP C C T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr13:42293839C>T ENST00000379310.3 - 26 3072 c.3004G>A c.(3004-3006)Gtg>Atg p.V1002M VWA8_ENST00000281496.6_Missense_Mutation_p.V1002M NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 AAGTCAAACACATTTCGAACT 0.343000 5 21 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223116295 223116295 + Missense_Mutation SNP G G C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:223116295G>C ENST00000284476.6 + 2 294 c.130G>C c.(130-132)Gaa>Caa p.E44Q DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Missense_Mutation_p.E44Q NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 44 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) CACACCCAAAGAAGCAACAAG 0.507000 15 57 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204125 9204125 + Missense_Mutation SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr19:9204125G>A ENST00000429566.3 + 1 271 c.205G>A c.(205-207)Gtt>Att p.V69I NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V69I(2) breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CCTGTCCCTGGTTGATTTCTG 0.557000 4 115 0 0 1 0 0 WNT4 54361 broad.mit.edu 37 1 22456324 22456324 + Missense_Mutation SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:22456324G>A ENST00000290167.6 - 2 141 c.98C>T c.(97-99)tCg>tTg p.S33L WNT4_ENST00000542383.1_5'UTR NM_030761.4 NP_110388.2 P56705 WNT4_HUMAN wingless-type MMTV integration site family, member 4 33 adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 8 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) GCTCCCCACCGACGACAGCTT 0.627000 40 174 0 0 1 0 0 STAT1 6772 broad.mit.edu 37 2 191848434 191848434 + Missense_Mutation SNP G G C rs150942324 TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr2:191848434G>C ENST00000361099.3 - 17 1767 c.1380C>G c.(1378-1380)aaC>aaG p.N460K STAT1_ENST00000392322.3_Missense_Mutation_p.N460K|STAT1_ENST00000392323.2_Missense_Mutation_p.N462K|STAT1_ENST00000409465.1_Missense_Mutation_p.N460K|STAT1_ENST00000540176.1_3'UTR NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 460 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) GCTGGCTGACGTTGGAGATCA 0.507000 21 122 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 4 36 0 0 1 0 0 RAET1E 135250 broad.mit.edu 37 6 150210552 150210552 + Nonsense_Mutation SNP G G T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr6:150210552G>T ENST00000532335.1 - 4 900 c.554C>A c.(553-555)tCa>tAa p.S185* RAET1E_ENST00000367363.3_Nonsense_Mutation_p.S149*|RAET1E_ENST00000357183.4_Nonsense_Mutation_p.S185*|RAET1E_ENST00000529948.1_Nonsense_Mutation_p.S185*|RP11-244K5.1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA NM_001243328.1 NP_001230257.1 Q8TD07 N2DL4_HUMAN retinoic acid early transcript 1E 185 MHC class I alpha-2 like. antigen processing and presentation|immune response|regulation of immune response integral to membrane|MHC class I protein complex protein binding cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) GTCTCCCTTTGAGAGCTTCCT 0.493000 43 45 1.8453e-21 2.12527e-21 1 1 0 SENP1 29843 broad.mit.edu 37 12 48468234 48468234 + Silent SNP G G T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr12:48468234G>T ENST00000004980.5 - 8 1291 c.813C>A c.(811-813)tcC>tcA p.S271S SENP1_ENST00000549595.1_Silent_p.S271S|SENP1_ENST00000551330.1_Silent_p.S271S|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Silent_p.S271S|SENP1_ENST00000549518.1_Silent_p.S271S Q9P0U3 SENP1_HUMAN SUMO1/sentrin specific peptidase 1 271 activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) AAGAAGATAGGGAATATACAC 0.433000 21 125 3.51602e-12 3.9145e-12 1 1 0 CACNA2D1 781 broad.mit.edu 37 7 81591249 81591249 + Missense_Mutation SNP T T C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr7:81591249T>C ENST00000356860.3 - 36 3265 c.2927A>G c.(2926-2928)aAa>aGa p.K976R CACNA2D1_ENST00000535308.1_Missense_Mutation_p.K188R|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.K988R NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 988 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) ACTGAATGATTTACTGTCGTT 0.388000 4 65 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123844255 123844255 + Missense_Mutation SNP T T C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr10:123844255T>C ENST00000369005.1 + 4 2580 c.2240T>C c.(2239-2241)aTg>aCg p.M747T TACC2_ENST00000515603.1_Missense_Mutation_p.M747T|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.M747T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.M747T|TACC2_ENST00000334433.3_Missense_Mutation_p.M747T NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 747 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) ATAAGGAAGATGGGCAGCTGT 0.542000 25 156 0 0 1 0 0 NOVA2 4858 broad.mit.edu 37 19 46443289 46443289 + Silent SNP G G T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr19:46443289G>T ENST00000263257.5 - 4 1505 c.1311C>A c.(1309-1311)ggC>ggA p.G437G NM_002516.2 NP_002507.1 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 437 KH 3. nucleus RNA binding p.G437G(1) endometrium(3)|large_intestine(5)|lung(13) 21 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) GGATGCGAGCGCCCGTCAGCT 0.662000 41 159 3.76604e-16 4.27842e-16 1 1 0 C9orf84 158401 broad.mit.edu 37 9 114467555 114467555 + Missense_Mutation SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr9:114467555G>A ENST00000394779.3 - 17 2762 c.2518C>T c.(2518-2520)Cca>Tca p.P840S C9orf84_ENST00000394777.4_Missense_Mutation_p.P805S|C9orf84_ENST00000318737.4_Missense_Mutation_p.P879S|C9orf84_ENST00000374287.3_Missense_Mutation_p.P879S NM_001080551.1 NP_001074020.1 Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 879 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 AGTATGTCTGGAGTATTAAGA 0.338000 7 41 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100683137 100683137 + Missense_Mutation SNP A A T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr7:100683137A>T ENST00000306151.4 + 3 8504 c.8440A>T c.(8440-8442)Agt>Tgt p.S2814C NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2814 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCCATTAACTAGTATGCCTGT 0.498000 137 520 0 0 1 0 0 RP4-559A3.7 0 broad.mit.edu 37 1 226075635 226075635 + Missense_Mutation SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:226075635G>A ENST00000432920.2 - 6 840 c.673C>T c.(673-675)Cgt>Tgt p.R225C LEFTY1_ENST00000272134.5_Silent_p.A116A|LEFTY1_ENST00000492457.1_5'UTR GCCGCAGCACGGCCTGCACCA 0.736000 3 11 0 0 1 0 0 PDPR 55066 broad.mit.edu 37 16 70187451 70187451 + Missense_Mutation SNP G G T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr16:70187451G>T ENST00000288050.4 + 18 3167 c.2210G>T c.(2209-2211)cGa>cTa p.R737L PDPR_ENST00000542659.1_Missense_Mutation_p.R82L|PDPR_ENST00000568530.1_Missense_Mutation_p.R737L|PDPR_ENST00000567046.1_Missense_Mutation_p.R95L|PDPR_ENST00000398122.3_Missense_Mutation_p.R637L|PDPR_ENST00000562100.1_Intron NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 737 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) GAATGTGGACGAGAGTCTCGG 0.473000 3 23 0.00909568 0.00920593 1 1 0 CREBBP 1387 broad.mit.edu 37 16 3820578 3820578 + Missense_Mutation SNP C C T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr16:3820578C>T ENST00000262367.5 - 14 3682 c.2873G>A c.(2872-2874)gGc>gAc p.G958D CREBBP_ENST00000382070.3_Missense_Mutation_p.G920D NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 958 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TACCGGTGTGCCAGGAGGCTG 0.577000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 5 297 0 0 1 0 0 PDGFRB 5159 broad.mit.edu 37 5 149503887 149503887 + Missense_Mutation SNP G G A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr5:149503887G>A ENST00000261799.4 - 14 2418 c.1949C>T c.(1948-1950)tCg>tTg p.S650L NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 650 Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CTTCAGCTCCGACATAAGGGC 0.637000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 18 59 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784272 82784272 + Missense_Mutation SNP C C G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr7:82784272C>G ENST00000423517.2 - 2 2022 c.1685G>C c.(1684-1686)gGa>gCa p.G562A PCLO_ENST00000333891.8_Missense_Mutation_p.G562A NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 508 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTTTCCAGATCCTGTTTGGCT 0.522000 22 456 0 0 1 0 0 VPS72 6944 broad.mit.edu 37 1 151156886 151156886 + Missense_Mutation SNP G G C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:151156886G>C ENST00000354473.4 - 4 505 c.469C>G c.(469-471)Cgg>Ggg p.R157G VPS72_ENST00000496809.1_5'UTR NM_001271087.1|NM_005997.1 NP_001258016.1|NP_005988.1 Q15906 VPS72_HUMAN vacuolar protein sorting 72 homolog (S. cerevisiae) 157 chromatin modification|negative regulation of transcription from RNA polymerase II promoter nucleus|protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CCCTTTCGCCGTCTTGACTGG 0.557000 19 338 0 0 1 0 0 ENPP6 133121 broad.mit.edu 37 4 185074851 185074851 + Missense_Mutation SNP A A C TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr4:185074851A>C ENST00000296741.2 - 2 418 c.277T>G c.(277-279)Tac>Gac p.Y93D NM_153343.3 NP_699174.1 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 6 93 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) TCCCACATGTAGTTCCCGATC 0.473000 10 35 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52716323 52716323 + Missense_Mutation SNP C C T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr19:52716323C>T ENST00000322088.6 + 6 825 c.767C>T c.(766-768)tCc>tTc p.S256F PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S77F|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S201F NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 256 PP2A subunit B binding.|Polyoma small and medium T antigens Binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity p.S256F(11)|p.S256Y(5) NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) GAAGACAAGTCCTGGCGCGTC 0.617000 Mis clear cell ovarian carcinoma 13 38 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120438214 120438234 + In_Frame_Del DEL TGTATCCTCATACGAACATCT TGTATCCTCATACGAACATCT - TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:120438214_120438234delTGTATCCTCATACGAACATCT ENST00000369400.1 - 1 884_904 c.726_746delAGATGTTCGTATGAGGATACA c.(724-747)cac>ca p.QDVRMRIH242del NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 242 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) AGCCTTTAAGTGTATCCTCATACGAACATCTTGAAAGTAGG 0.344 7 46 --- --- --- --- RP11-417J8.6 0 broad.mit.edu 37 1 142635348 142635349 + RNA DEL CC CC - rs67243162 TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:142635348_142635349delCC ENST00000369381.2 - 0 4132_4133 RP11-417J8.3_ENST00000426408.1_lincRNA gggtggggctcccccccccgtt 0.653 5 4 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144011657 144011658 + RNA INS - - G rs66670828 TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:144011657_144011658insG ENST00000467933.1 + 0 915 GGttcttttttttgttgtttgt 0.520 3 5 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144012010 144012010 + RNA DEL C C - TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:144012010delC ENST00000467933.1 + 0 915 ATTCTGAATGCCCTCTCAATG 0.453 2 4 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144045995 144045996 + RNA INS - - CC rs147099033 by1000genomes TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:144045995_144045996insCC ENST00000467933.1 + 0 1108 AAAGGGAAGGTCCCAGGTCTAC 0.455 3 6 --- --- --- --- GPR52 9293 broad.mit.edu 37 1 174417869 174417872 + Frame_Shift_Del DEL TTGT TTGT - TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:174417869_174417872delTTGT ENST00000367685.2 + 1 658_661 c.620_623delTTGT c.(619-624)atfs p.IV207fs RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000251507.4_Intron NM_005684.4 NP_005675.3 Q9Y2T5 GPR52_HUMAN G protein-coupled receptor 52 207 integral to plasma membrane G-protein coupled receptor activity breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2) 20 ACTGGCTTTATTGTTTGTTTACTT 0.431 33 242 --- --- --- --- LINC00272 0 broad.mit.edu 37 1 182382618 182382619 + RNA INS - - T TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr1:182382618_182382619insT ENST00000367563.3 + 0 610 NR_034131.1 CCTCTGCCCTATTTTTACCTGT 0.431 2 4 --- --- --- --- ATP6V1C2 245973 broad.mit.edu 37 2 10917819 10917820 + Frame_Shift_Del DEL AG AG - TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr2:10917819_10917820delAG ENST00000272238.4 + 11 1043_1044 c.934_935delAG c.(934-936)afs p.R312fs ATP6V1C2_ENST00000381661.3_Intron NM_001039362.1 NP_001034451.1 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 312 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GCAGACCGACAGAGAGAGAGAG 0.604 7 125 --- --- --- --- AC093901.1 0 broad.mit.edu 37 2 118922688 118922688 + RNA DEL C C - TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr2:118922688delC ENST00000414886.1 - 0 533 gacggagctgccccagaccat 0.542 2 4 --- --- --- --- RP11-702L6.4 0 broad.mit.edu 37 3 109191875 109191875 + RNA DEL G G - rs79296685 TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr3:109191875delG ENST00000497996.1 + 0 424 tcttttttttgtaaatagtca 0.328 5 2 --- --- --- --- RP11-572M11.4 0 broad.mit.edu 37 3 112814651 112814651 + RNA DEL A A - TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr3:112814651delA ENST00000460707.1 + 0 390 RP11-572M11.4_ENST00000496389.1_RNA ACTTTTCCCTAAAATTATACG 0.348 2 4 --- --- --- --- CPHL1P 0 broad.mit.edu 37 3 148999032 148999033 + RNA INS - - GAA rs67798399 by1000genomes TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr3:148999032_148999033insGAA ENST00000482639.2 - 0 195 GGGAAGACACTGAACAGtaaga 0.500 5 4 --- --- --- --- RP11-430L16.1 0 broad.mit.edu 37 3 187825425 187825426 + RNA INS - - A rs79716584 TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr3:187825425_187825426insA ENST00000449845.1 + 0 241 GAGGGGCGGTGAAAAAAAAAAG 0.495 2 4 --- --- --- --- RP11-17E2.2 0 broad.mit.edu 37 4 22016414 22016414 + RNA DEL A A - rs34151417 TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr4:22016414delA ENST00000510705.3 + 0 445 TAATCATCCCAATGAGCATAA 0.348 5 1 --- --- --- --- RP11-1023L17.1 0 broad.mit.edu 37 5 34182134 34182134 + RNA DEL T T - TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr5:34182134delT ENST00000514048.1 - 0 231 ataaaaaggattttttttttt 0.512 6 12 --- --- --- --- RP11-348J24.2 0 broad.mit.edu 37 5 91710573 91710574 + RNA INS - - C rs142458376 by1000genomes TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr5:91710573_91710574insC ENST00000502934.1 + 0 328 aggtggagctgcctgccagtcc 0.658 4 3 --- --- --- --- TDRD6 221400 broad.mit.edu 37 6 46660414 46660415 + Frame_Shift_Ins INS - - A rs145334816 TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr6:46660414_46660415insA ENST00000544460.1 + 1 4803_4804 c.4549_4550insA c.(4549-4551)aaafs p.K1517fs TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1517 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTATAATCCAGAAAAAAAAATG 0.351 7 73 --- --- --- --- RP11-554D15.1 0 broad.mit.edu 37 6 75178491 75178491 + RNA DEL C C - TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr6:75178491delC ENST00000435946.1 + 0 193 taggaaaatgccccagtggga 0.617 2 4 --- --- --- --- RRAGD 58528 broad.mit.edu 37 6 90121645 90121647 + In_Frame_Del DEL TCC TCC - TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr6:90121645_90121647delTCC ENST00000369415.4 - 1 342_344 c.66_68delGGA c.(64-69)gat>ga p.ED22del RRAGD_ENST00000359203.2_5'UTR NM_021244.4 NP_067067.1 Q9NQL2 RRAGD_HUMAN Ras-related GTP binding D 22 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosome|nucleus GTP binding|protein heterodimerization activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2) 15 all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139) BRCA - Breast invasive adenocarcinoma(108;0.0144) CACCAGctcatcctcctcctcct 0.754 3 4 --- --- --- --- LINC00222 0 broad.mit.edu 37 6 109083264 109083264 + RNA DEL T T - TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr6:109083264delT ENST00000416104.1 + 0 324 aggtgaatcatttgaggccag 0.522 3 6 --- --- --- --- AZGP1P1 0 broad.mit.edu 37 7 99578706 99578706 + RNA DEL A A - TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr7:99578706delA ENST00000425474.1 + 0 87 NR_036679.1 cttagtttacagtgaaaacaa 0.522 3 5 --- --- --- --- TBXAS1 6916 broad.mit.edu 37 7 139717541 139717550 + Frame_Shift_Del DEL TGCCTCGGGG TGCCTCGGGG - TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr7:139717541_139717550delTGCCTCGGGG ENST00000263552.6 + 16 1976_1985 c.1438_1447delTGCCTCGGGG c.(1438-1449)tgfs p.CLGV480fs TBXAS1_ENST00000458722.1_Frame_Shift_Del_p.CLGV525fs|TBXAS1_ENST00000411653.1_Intron|TBXAS1_ENST00000336425.5_Frame_Shift_Del_p.CLGV479fs|TBXAS1_ENST00000436047.2_Frame_Shift_Del_p.CLGV480fs|TBXAS1_ENST00000425687.1_Frame_Shift_Del_p.CLGV412fs|TBXAS1_ENST00000448866.1_Frame_Shift_Del_p.CLGV479fs|TBXAS1_ENST00000414508.2_Intron|TBXAS1_ENST00000416849.2_Frame_Shift_Del_p.CLGV526fs NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 479 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) CCCACGGAGCTGCCTCGGGGTGCGTCTAGG 0.681 13 111 --- --- --- --- RP11-17A4.2 0 broad.mit.edu 37 8 57452525 57452526 + RNA DEL GA GA - TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr8:57452525_57452526delGA ENST00000518662.1 + 0 827 RP11-17A4.3_ENST00000523724.1_lincRNA|LINC00968_ENST00000499425.1_lincRNA ggcagaggaggagagagagaga 0.569 3 5 --- --- --- --- RP11-705O24.2 0 broad.mit.edu 37 8 62804624 62804624 + RNA DEL T T - TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr8:62804624delT ENST00000519215.1 + 0 37 atggtgggacttttgtttatt 0.343 2 4 --- --- --- --- ARMC4P1 0 broad.mit.edu 37 10 27562483 27562483 + RNA DEL C C - TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr10:27562483delC ENST00000576034.1 + 0 399 tttaaatcctccaatggtgtt 0.313 2 4 --- --- --- --- LINC00837 0 broad.mit.edu 37 10 29080464 29080476 + RNA DEL AAGGGCTGGCCCA AAGGGCTGGCCCA - rs3842228 TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr10:29080464_29080476delAAGGGCTGGCCCA ENST00000443246.2 - 0 1631_1643 NR_038374.1|NR_038375.1|NR_038376.1 AGAAGGAGGGAAGGGCTGGCCCAAAGGGCTTCA 0.610 2 4 --- --- --- --- RP11-556E13.1 0 broad.mit.edu 37 10 54351318 54351319 + RNA DEL TG TG - TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr10:54351318_54351319delTG ENST00000443523.1 - 0 100 cctaacacactgtgtgtgtgtg 0.465 2 4 --- --- --- --- DUSP5 1847 broad.mit.edu 37 10 112266691 112266692 + Splice_Site INS - - G TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr10:112266691_112266692insG ENST00000369583.3 + 3 812 c.e3-1 DUSP5_ENST00000468749.1_Splice_Site NM_004419.3 NP_004410.3 Q16690 DUS5_HUMAN dual specificity phosphatase 5 endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 13 Breast(234;0.0848) Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12) CCCTGCATCCAGGGTGGCCCAG 0.480 8 302 --- --- --- --- RP11-98J9.1 0 broad.mit.edu 37 11 13833269 13833269 + RNA DEL T T - rs35757293 TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr11:13833269delT ENST00000531749.1 + 0 188 taattttttgttttttttttt 0.368 3 3 --- --- --- --- RP11-94P11.4 0 broad.mit.edu 37 11 105132683 105132684 + RNA INS - - A TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr11:105132683_105132684insA ENST00000528811.1 - 0 145 agaaggaaaAgaggaagggagg 0.485 2 4 --- --- --- --- TMPRSS5 80975 broad.mit.edu 37 11 113567582 113567582 + Frame_Shift_Del DEL G G - TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr11:113567582delG ENST00000299882.5 - 6 724 c.576delC c.(574-576)ccfs p.P192fs TMPRSS5_ENST00000545579.1_Frame_Shift_Del_p.P183fs|TMPRSS5_ENST00000536856.1_5'UTR|TMPRSS5_ENST00000544634.1_Frame_Shift_Del_p.P192fs|TMPRSS5_ENST00000540540.1_5'UTR|TMPRSS5_ENST00000538955.1_Frame_Shift_Del_p.P148fs|TMPRSS5_ENST00000544476.1_Frame_Shift_Del_p.P148fs NM_030770.2 NP_110397.2 Q9H3S3 TMPS5_HUMAN transmembrane protease, serine 5 192 SRCR. proteolysis integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 10 all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502) AGTCCTACCTGGGCTGCCACG 0.547 2 4 --- --- --- --- RP11-81H3.2 0 broad.mit.edu 37 12 74669120 74669120 + RNA DEL T T - rs35644413 TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr12:74669120delT ENST00000515416.2 - 0 464 RP11-274M17.3_ENST00000552046.1_RNA TTTTTTGGGGTTTTTTTTTTT 0.308 3 5 --- --- --- --- AL132819.1 0 broad.mit.edu 37 14 99828698 99828699 + RNA DEL CA CA - rs61984102 by1000genomes TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr14:99828698_99828699delCA ENST00000401354.1 + 0 71_72 ctctctctctcACACACACACA 0.500 3 4 --- --- --- --- AC002331.1 0 broad.mit.edu 37 16 26599065 26599068 + RNA DEL ACAG ACAG - rs71134607 TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr16:26599065_26599068delACAG ENST00000443373.1 - 0 104 ACATACAGACacagacagacagac 0.353 2 4 --- --- --- --- RP11-626K17.3 0 broad.mit.edu 37 16 32468054 32468055 + RNA INS - - T rs144763151 TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr16:32468054_32468055insT ENST00000565549.1 - 0 2024_2025 taatttttgtatttttttgtag 0.500 3 3 --- --- --- --- CTD-2015G9.2 0 broad.mit.edu 37 16 86756961 86756962 + RNA INS - - GC rs10565832 TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr16:86756961_86756962insGC ENST00000562064.1 + 0 56 tgcaggtgcgtgtgtgtgtgtg 0.465 2 4 --- --- --- --- RP11-260A9.6 0 broad.mit.edu 37 17 25320407 25320408 + RNA INS - - A rs149373182 by1000genomes TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr17:25320407_25320408insA ENST00000580686.1 - 0 117 atgcaattttgaaaaacaaggc 0.495 4 3 --- --- --- --- LINC00683 0 broad.mit.edu 37 18 74332283 74332283 + RNA DEL C C - TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr18:74332283delC ENST00000579781.1 + 0 326 GCTGTGAGCTCCCCCCCCCCA 0.687 2 4 --- --- --- --- CTC-548K16.1 0 broad.mit.edu 37 19 14452301 14452302 + RNA INS - - A rs142426351 by1000genomes TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr19:14452301_14452302insA ENST00000588275.1 + 0 277 CTC-548K16.2_ENST00000586698.1_lincRNA tcccaaaaattaaaaaaaaaaG 0.540 5 2 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11069159 11069160 + RNA DEL TA TA - rs4009917 by1000genomes TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr21:11069159_11069160delTA 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) aataatatattaaaaaaaactt 0.277 5 5 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11088488 11088488 + RNA DEL G G - rs113519528 by1000genomes TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr21:11088488delG 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) ttgtttttttgttgttgttgt 0.403 3 5 --- --- --- --- AP000318.2 0 broad.mit.edu 37 21 35623781 35623782 + RNA DEL TG TG - TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr21:35623781_35623782delTG ENST00000427022.1 + 0 311 AAAAGAACAATGTGTGTGTGTG 0.480 3 4 --- --- --- --- LL22NC03-2H8.4 0 broad.mit.edu 37 22 22648230 22648230 + RNA DEL A A - rs35420200 TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr22:22648230delA ENST00000412149.1 + 0 133 cagggtgatgacacatccaga 0.612 7 3 --- --- --- --- RP1-231P7P.1 0 broad.mit.edu 37 22 27969425 27969425 + RNA DEL C C - rs35207321 TCGA-N8-A4PP-01A-11D-A28R-08 TCGA-N8-A4PP-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e6eb56d-1825-41f7-93fe-665c0bac1c15 db457003-170c-4835-8f37-a73bb4da8189 g.chr22:27969425delC ENST00000415655.1 - 0 66 CTTTCGAAGAcccccccgctg 0.507 3 4 --- --- --- ---