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 NPHP4 261734 broad.mit.edu 37 1 5964828 5964828 + Silent SNP C C T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr1:5964828C>T ENST00000378156.4 - 16 2257 c.1992G>A c.(1990-1992)aaG>aaA p.K664K NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 664 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity p.K664K(2)|p.K664N(1) NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) AATACACAGTCTTTGGCCATG 0.577 18 124 --- --- --- --- HP1BP3 50809 broad.mit.edu 37 1 21103089 21103089 + Splice_Site SNP C C G TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr1:21103089C>G ENST00000312239.5 - 4 490 c.e4+1 HP1BP3_ENST00000375000.1_Splice_Site|HP1BP3_ENST00000487117.1_5'UTR NM_016287.3 NP_057371.2 Q5SSJ5 HP1B3_HUMAN heterochromatin protein 1, binding protein 3 nucleosome assembly nucleosome|nucleus DNA binding p.?(1) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1) 16 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) TAACTCCTTACTCCTTTTTGG 0.368 46 243 --- --- --- --- HSPG2 3339 broad.mit.edu 37 1 22216543 22216543 + Missense_Mutation SNP T T A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr1:22216543T>A ENST00000374695.3 - 6 584 c.505A>T c.(505-507)Atc>Ttc p.I169F NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 169 SEA. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding p.I169F(1) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CCGCTGGAGATGACCCTGAGC 0.617 18 147 --- --- --- --- ASH1L 55870 broad.mit.edu 37 1 155448258 155448258 + Missense_Mutation SNP C C A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr1:155448258C>A ENST00000368346.3 - 3 5042 c.4403G>T c.(4402-4404)aGt>aTt p.S1468I ASH1L_ENST00000392403.3_Missense_Mutation_p.S1468I Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1468 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding p.S1468I(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AGGAGGAACACTGGGGTAGGT 0.488 35 175 --- --- --- --- FASLG 356 broad.mit.edu 37 1 172635069 172635069 + Missense_Mutation SNP T T G TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr1:172635069T>G ENST00000367721.2 + 4 943 c.759T>G c.(757-759)agT>agG p.S253R FASLG_ENST00000340030.3_3'UTR NM_000639.1 NP_000630.1 P48023 TNFL6_HUMAN Fas ligand (TNF superfamily, member 6) 253 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity p.S253R(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1) 19 ATCTTACCAGTGCTGATCATT 0.473 37 208 --- --- --- --- PLXNA2 5362 broad.mit.edu 37 1 208390820 208390820 + Missense_Mutation SNP C C T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr1:208390820C>T ENST00000367033.3 - 2 1205 c.448G>A c.(448-450)Gag>Aag p.E150K NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 150 Sema. axon guidance integral to membrane|intracellular|plasma membrane p.E150K(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) TGGGATGGCTCCACCAGGATG 0.582 8 274 --- --- --- --- SNTG2 54221 broad.mit.edu 37 2 1168808 1168808 + Missense_Mutation SNP G G T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr2:1168808G>T ENST00000308624.5 + 8 659 c.530G>T c.(529-531)aGt>aTt p.S177I SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 177 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding p.S177I(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) GACCACAGCAGTGGGGCCTCC 0.488 47 335 --- --- --- --- PROKR1 10887 broad.mit.edu 37 2 68873392 68873392 + Missense_Mutation SNP T T A rs35335568 TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr2:68873392T>A ENST00000303786.3 + 2 859 c.439T>A c.(439-441)Tct>Act p.S147T PROKR1_ENST00000394342.2_Missense_Mutation_p.S147T Q8TCW9 PKR1_HUMAN prokineticin receptor 1 147 integral to membrane|plasma membrane neuropeptide Y receptor activity p.S147T(1) endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCGCACTGTCTCTCTCTATGT 0.592 8 213 --- --- --- --- MRPS9 64965 broad.mit.edu 37 2 105706377 105706377 + Splice_Site SNP G G C TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr2:105706377G>C ENST00000258455.3 + 7 685 c.e7-1 NM_182640.2 NP_872578.1 P82933 RT09_HUMAN mitochondrial ribosomal protein S9 DNA damage response, detection of DNA damage|translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome p.?(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 TATTTTAACAGAGACGTGATT 0.303 17 56 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179438165 179438165 + Missense_Mutation SNP T T C TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr2:179438165T>C ENST00000589042.1 - 326 72918 c.72694A>G c.(72694-72696)Aca>Gca p.T24232A TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T15292A|TTN_ENST00000460472.2_Missense_Mutation_p.T15167A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15359A|TTN_ENST00000591111.1_Missense_Mutation_p.T22591A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T21664A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22591 Ig-like 121. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.T15167A(2)|p.T15292A(1)|p.T15359A(1)|p.T21662A(1)|p.T21664A(1) 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) GTAATAGTTGTCACTTCAGGG 0.458 38 183 --- --- --- --- NGLY1 55768 broad.mit.edu 37 3 25792603 25792603 + Missense_Mutation SNP C C G TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr3:25792603C>G ENST00000428257.1 - 4 751 c.644G>C c.(643-645)aGa>aCa p.R215T NGLY1_ENST00000280700.5_Missense_Mutation_p.R215T|NGLY1_ENST00000417874.2_Missense_Mutation_p.R173T|NGLY1_ENST00000396649.3_Missense_Mutation_p.R215T|NGLY1_ENST00000422724.2_Missense_Mutation_p.R138T NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 215 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding p.R215T(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 ATCCAATTTTCTAGCTCTCGA 0.348 15 82 --- --- --- --- XCR1 2829 broad.mit.edu 37 3 46063159 46063159 + Missense_Mutation SNP C C G TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr3:46063159C>G ENST00000309285.3 - 2 637 c.281G>C c.(280-282)gGc>gCc p.G94A XCR1_ENST00000542109.1_Missense_Mutation_p.G94A NM_001024644.1 NP_001019815.1 P46094 XCR1_HUMAN chemokine (C motif) receptor 1 94 chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity p.G94A(1) NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) CAGCACCCAGCCCCAGTGGTA 0.547 10 60 --- --- --- --- ITIH3 3699 broad.mit.edu 37 3 52836783 52836783 + Missense_Mutation SNP T T A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr3:52836783T>A ENST00000449956.2 + 13 1676 c.1670T>A c.(1669-1671)cTc>cAc p.L557H ITIH3_ENST00000416872.2_Intron NM_002217.3 NP_002208.3 Q06033 ITIH3_HUMAN inter-alpha-trypsin inhibitor heavy chain 3 557 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.L557H(2) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) ATTGAGCGGCTCTGGGCCTAC 0.607 10 48 --- --- --- --- BOD1L1 259282 broad.mit.edu 37 4 13601501 13601501 + Silent SNP G G A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr4:13601501G>A ENST00000040738.5 - 10 7158 c.7023C>T c.(7021-7023)tcC>tcT p.S2341S NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2341 DNA binding p.S2341S(2) CAATGCTGGCGGAAATTGGCA 0.522 10 53 --- --- --- --- ADAM29 11086 broad.mit.edu 37 4 175897499 175897499 + Nonsense_Mutation SNP G G T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr4:175897499G>T ENST00000359240.3 + 5 1493 c.823G>T c.(823-825)Gag>Tag p.E275* ADAM29_ENST00000445694.1_Nonsense_Mutation_p.E275*|ADAM29_ENST00000514159.1_Nonsense_Mutation_p.E275*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.E275* NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 275 Peptidase M12B. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.E275*(2) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GTGGAAGTCGGAGAACATTAC 0.413 10 373 --- --- --- --- LINC01098 285501 broad.mit.edu 37 4 178897079 178897079 + Nonsense_Mutation SNP T T A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr4:178897079T>A ENST00000507870.1 + 5 744 c.282T>A c.(280-282)taT>taA p.Y94* p.Y94*(2) lung(8)|prostate(1) 9 CTCTGAAGTATATTTTTTCTA 0.378 13 303 --- --- --- --- CDH6 1004 broad.mit.edu 37 5 31267702 31267702 + Missense_Mutation SNP C C G TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr5:31267702C>G ENST00000265071.2 + 2 387 c.122C>G c.(121-123)tCt>tGt p.S41C RP11-152K4.2_ENST00000523584.1_RNA|CDH6_ENST00000514738.1_5'UTR NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 41 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding p.S41C(1) NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CTGGAGCTCTCTGGAAACAGC 0.483 23 164 --- --- --- --- CRHBP 1393 broad.mit.edu 37 5 76259198 76259198 + Missense_Mutation SNP G G T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr5:76259198G>T ENST00000274368.4 + 6 1146 c.724G>T c.(724-726)Gac>Tac p.D242Y CRHBP_ENST00000514258.1_3'UTR NM_001882.3 NP_001873.2 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein 242 female pregnancy|learning or memory|signal transduction soluble fraction p.D242N(1)|p.D242Y(1) kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) GGGAATAGGAGACTTTGTGGA 0.473 64 307 --- --- --- --- CMYA5 202333 broad.mit.edu 37 5 79041206 79041206 + Missense_Mutation SNP G G A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr5:79041206G>A ENST00000446378.2 + 4 10927 c.10896G>A c.(10894-10896)atG>atA p.M3632I NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3632 Amphipathic helix H2.|B-box coiled-coil; BBC. perinuclear region of cytoplasm p.M3632I(2) NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TGCAGAGCATGGACACTGCCA 0.488 19 104 --- --- --- --- LOX 4015 broad.mit.edu 37 5 121413182 121413182 + Missense_Mutation SNP C C T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr5:121413182C>T ENST00000231004.4 - 1 798 c.499G>A c.(499-501)Gtg>Atg p.V167M NM_001178102.1|NM_002317.5 NP_001171573.1|NP_002308.2 P28300 LYOX_HUMAN lysyl oxidase 167 protein modification process extracellular space copper ion binding|protein-lysine 6-oxidase activity p.V167M(1) endometrium(1)|lung(6)|prostate(1) 8 all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02) TCGTCGCCCACCATGCCGTCC 0.622 26 133 --- --- --- --- LINC00518 221718 broad.mit.edu 37 6 10430136 10430136 + RNA SNP T T G TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr6:10430136T>G ENST00000496285.1 - 0 899 NR_027793.1 p.T118P(1) TACGCTTAAGTGTGATCACAG 0.483 OREG0017184 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 330 --- --- --- --- TNXB 7148 broad.mit.edu 37 6 32023935 32023935 + Silent SNP G G T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr6:32023935G>T ENST00000375244.3 - 24 8361 c.8160C>A c.(8158-8160)acC>acA p.T2720T TNXB_ENST00000375247.2_Silent_p.T2720T P22105 TENX_HUMAN tenascin XB 2778 Fibronectin type-III 19. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.T2807T(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TGGGGCTGGGGGTCTCTTCCT 0.627 9 66 --- --- --- --- MDGA1 266727 broad.mit.edu 37 6 37622688 37622688 + Missense_Mutation SNP C C G TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr6:37622688C>G ENST00000297153.7 - 5 1778 c.600G>C c.(598-600)aaG>aaC p.K200N MDGA1_ENST00000434837.3_Missense_Mutation_p.K200N|MDGA1_ENST00000505425.1_Missense_Mutation_p.K200N Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 200 Ig-like 2. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane p.K200N(2) central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 GGTTCTTCAGCTTCAGGACCT 0.612 15 82 --- --- --- --- FAM83B 222584 broad.mit.edu 37 6 54735287 54735287 + Silent SNP T T C TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr6:54735287T>C ENST00000306858.7 + 2 359 c.243T>C c.(241-243)gaT>gaC p.D81D NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 81 p.D81D(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) GTACTGATGATTCCTGTGATG 0.433 53 329 --- --- --- --- FUT9 10690 broad.mit.edu 37 6 96651187 96651187 + Silent SNP C C T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr6:96651187C>T ENST00000302103.5 + 3 482 c.156C>T c.(154-156)aaC>aaT p.N52N NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 52 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity p.N52N(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) AAATGAAAAACTTCTTTTCCA 0.423 33 163 --- --- --- --- TIAM2 26230 broad.mit.edu 37 6 155451342 155451342 + Silent SNP C C T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr6:155451342C>T ENST00000461783.3 + 6 2258 c.985C>T c.(985-987)Ctg>Ttg p.L329L TIAM2_ENST00000318981.5_Silent_p.L329L|TIAM2_ENST00000529824.2_Silent_p.L329L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Silent_p.L329L|TIAM2_ENST00000456144.1_Silent_p.L329L Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 329 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity p.L329L(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GCATGCCAGCCTGAGCAACCG 0.577 15 88 --- --- --- --- UNC93A 54346 broad.mit.edu 37 6 167709633 167709633 + Missense_Mutation SNP A A T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr6:167709633A>T ENST00000230256.3 + 3 558 c.383A>T c.(382-384)aAg>aTg p.K128M UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.K128M NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 128 K -> Q (in dbSNP:rs35313366). integral to membrane|plasma membrane p.K128M(1) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) AAGGCGGGAAAGCGTGGCAAA 0.552 30 219 --- --- --- --- SDK1 221935 broad.mit.edu 37 7 3681627 3681627 + Silent SNP A A T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr7:3681627A>T ENST00000404826.2 + 4 742 c.603A>T c.(601-603)acA>acT p.T201T SDK1_ENST00000389531.3_Silent_p.T201T NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 201 Ig-like C2-type 2. cell adhesion integral to membrane p.T201T(1) NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) AGAGGAAAACAGTTTCTCAAG 0.463 7 203 --- --- --- --- EGFR 1956 broad.mit.edu 37 7 55273231 55273231 + Missense_Mutation SNP G G T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr7:55273231G>T ENST00000275493.2 + 28 3731 c.3554G>T c.(3553-3555)gGc>gTc p.G1185V EGFR_ENST00000454757.2_Missense_Mutation_p.G1132V|EGFR_ENST00000442591.1_Intron NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 1185 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.G1185V(2) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AAGCCAAATGGCATCTTTAAG 0.527 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 9 74 --- --- --- --- CTTNBP2 83992 broad.mit.edu 37 7 117432054 117432054 + Missense_Mutation SNP G G A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr7:117432054G>A ENST00000160373.3 - 4 1287 c.1196C>T c.(1195-1197)cCc>cTc p.P399L NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 399 Pro-rich. p.P399L(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GGGAAGTGGGGGTGTGCTACT 0.527 92 272 --- --- --- --- ARHGEF10 9639 broad.mit.edu 37 8 1851472 1851472 + Missense_Mutation SNP G G A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr8:1851472G>A ENST00000518288.1 + 17 1911 c.1748G>A c.(1747-1749)gGc>gAc p.G583D ARHGEF10_ENST00000398564.1_Missense_Mutation_p.G584D|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.G521D|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.G559D|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.G545D|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.G584D O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 584 DH. centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity p.G584D(1)|p.G336D(1)|p.G559D(1) endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) ACCTCCAAAGGCCACCCCGAC 0.537 43 221 --- --- --- --- ZCCHC7 84186 broad.mit.edu 37 9 37126633 37126633 + Missense_Mutation SNP A A G TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr9:37126633A>G ENST00000336755.5 + 2 410 c.304A>G c.(304-306)Aga>Gga p.R102G ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.R101G|ZCCHC7_ENST00000461038.1_3'UTR NM_032226.2 NP_115602.2 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 102 nucleic acid binding|zinc ion binding p.R102G(1) central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 30 GBM - Glioblastoma multiforme(29;0.0137) CAGTATTTATAGATGTAAAGG 0.393 13 448 --- --- --- --- HSDL2 84263 broad.mit.edu 37 9 115200783 115200783 + Missense_Mutation SNP T T C TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr9:115200783T>C ENST00000398805.3 + 7 898 c.671T>C c.(670-672)aTt>aCt p.I224T HSDL2_ENST00000262542.7_Missense_Mutation_p.I104T|HSDL2_ENST00000539114.1_Missense_Mutation_p.I19T|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000398803.1_Missense_Mutation_p.I151T NM_032303.4 NP_115679.2 Q6YN16 HSDL2_HUMAN hydroxysteroid dehydrogenase like 2 224 peroxisome oxidoreductase activity|sterol binding p.I224T(1) NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 13 GTTGATATCATTGCAGATGCA 0.368 21 126 --- --- --- --- LCN2 3934 broad.mit.edu 37 9 130913928 130913928 + Missense_Mutation SNP G G A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr9:130913928G>A ENST00000540948.1 + 3 360 c.287G>A c.(286-288)tGt>tAt p.C96Y LCN2_ENST00000373013.2_Missense_Mutation_p.C98Y|LCN2_ENST00000372998.1_Missense_Mutation_p.C98Y|LCN2_ENST00000277480.2_Missense_Mutation_p.C96Y|LCN2_ENST00000373017.1_Missense_Mutation_p.C96Y|LCN2_ENST00000470902.1_3'UTR P80188 NGAL_HUMAN lipocalin 2 96 apoptosis|innate immune response|regulation of apoptosis|siderophore transport iron ion binding|transporter activity p.C96Y(1) central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 8 AAAAAGAAGTGTGACTACTGG 0.582 21 117 --- --- --- --- LINC00842 643650 broad.mit.edu 37 10 47133556 47133556 + RNA SNP A A T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr10:47133556A>T ENST00000422732.2 - 0 435 NR_033957.2 tcattaccaaatccattacag 0.453 6 83 --- --- --- --- NEUROG3 50674 broad.mit.edu 37 10 71332506 71332506 + Missense_Mutation SNP G G T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr10:71332506G>T ENST00000242462.4 - 2 323 c.294C>A c.(292-294)aaC>aaA p.N98K NM_020999.3 NP_066279.2 Q9Y4Z2 NGN3_HUMAN neurogenin 3 98 Helix-loop-helix motif. N -> D (in Ref. 1; CAB45384). central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus transcription coactivator activity p.N98K(1) endometrium(4)|large_intestine(2)|lung(6)|prostate(1) 13 CCGAGTTGAGGTTGTGCATTC 0.642 7 44 --- --- --- --- SLC43A3 29015 broad.mit.edu 37 11 57182087 57182087 + Splice_Site SNP C C A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr11:57182087C>A ENST00000395123.2 - 11 1365 c.e11+1 SLC43A3_ENST00000529554.1_Splice_Site|SLC43A3_ENST00000533524.1_Splice_Site|SLC43A3_ENST00000352187.1_Splice_Site|SLC43A3_ENST00000395124.1_Splice_Site NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 transmembrane transport integral to membrane p.?(1) central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 CCGCATCTCACCTGTCTTTCT 0.512 19 253 --- --- --- --- MPEG1 219972 broad.mit.edu 37 11 58979678 58979678 + Missense_Mutation SNP G G A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr11:58979678G>A ENST00000361050.3 - 1 746 c.661C>T c.(661-663)Ctc>Ttc p.L221F NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 221 MACPF. integral to membrane p.L221F(1) NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) GAGGCCCTGAGGTGGTCCTCC 0.572 12 98 --- --- --- --- MALAT1 378938 broad.mit.edu 37 11 65271551 65271551 + RNA SNP A A G TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr11:65271551A>G ENST00000534336.1 + 0 6319 NR_002819.2 TATTGACCTTATATAGGGAAG 0.368 7 45 --- --- --- --- ACTN3 89 broad.mit.edu 37 11 66314404 66314404 + RNA SNP T T A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr11:66314404T>A ENST00000513398.1 + 0 93 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 AGGAGCCCGATCGAGATGATG 0.667 5 13 --- --- --- --- ART4 420 broad.mit.edu 37 12 14993378 14993378 + Splice_Site SNP C C A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr12:14993378C>A ENST00000228936.4 - 2 1235 c.e2+1 C12orf60_ENST00000527783.1_Intron NM_021071.2 NP_066549.2 Q93070 NAR4_HUMAN ADP-ribosyltransferase 4 arginine metabolic process|protein ADP-ribosylation anchored to membrane|plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity p.?(1) large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3) 15 ATAAAGAATACCTTTTAGCAG 0.388 17 109 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49443872 49443872 + Nonsense_Mutation SNP C C A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr12:49443872C>A ENST00000301067.7 - 11 3498 c.3499G>T c.(3499-3501)Gag>Tag p.E1167* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.E1167*(1)|p.E894*(1) GGGTAGACCTCCATAGGGGTC 0.617 28 148 --- --- --- --- MON2 23041 broad.mit.edu 37 12 62946846 62946846 + Silent SNP G G A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr12:62946846G>A ENST00000393630.3 + 25 3496 c.3105G>A c.(3103-3105)gtG>gtA p.V1035V MON2_ENST00000552738.1_Silent_p.V1011V|MON2_ENST00000546600.1_Silent_p.V1034V|MON2_ENST00000393629.2_Silent_p.V1034V|MON2_ENST00000280379.6_Silent_p.V1035V|MON2_ENST00000393632.2_Silent_p.V1034V|MON2_ENST00000552115.1_Silent_p.V1034V NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 1035 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding p.V1034V(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) AACTATGTGTGGATCCCCGTC 0.453 8 326 --- --- --- --- HELB 92797 broad.mit.edu 37 12 66725338 66725338 + Silent SNP A A G TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr12:66725338A>G ENST00000247815.4 + 12 3134 c.3075A>G c.(3073-3075)gtA>gtG p.V1025V NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 1025 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity p.V1025V(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) CTGATGGAGTAGATACAGATG 0.438 26 133 --- --- --- --- XPO4 64328 broad.mit.edu 37 13 21417991 21417991 + Missense_Mutation SNP A A C TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr13:21417991A>C ENST00000400602.2 - 5 526 c.491T>G c.(490-492)tTg>tGg p.L164W XPO4_ENST00000255305.6_Missense_Mutation_p.L164W NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 164 protein transport cytoplasm|nucleus protein binding p.L137W(1) breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) AAATTCACTCAATAGCGCAGT 0.348 32 165 --- --- --- --- C14orf166B 145497 broad.mit.edu 37 14 77302633 77302633 + Missense_Mutation SNP A A T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr14:77302633A>T ENST00000393774.3 + 4 598 c.474A>T c.(472-474)caA>caT p.Q158H C14orf166B_ENST00000450042.2_Missense_Mutation_p.Q141H|C14orf166B_ENST00000460005.1_3'UTR NM_194287.2 NP_919263.2 Q0VAA2 CN16B_HUMAN chromosome 14 open reading frame 166B 158 p.Q158H(1) breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) AGATGCTACAAGAGAACTACT 0.552 8 20 --- --- --- --- DYNC1H1 1778 broad.mit.edu 37 14 102505453 102505453 + Missense_Mutation SNP G G T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr14:102505453G>T ENST00000360184.4 + 60 11486 c.11322G>T c.(11320-11322)aaG>aaT p.K3774N RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3774 AAA 5 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding p.K3774N(1) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 AGAACCTGAAGAGAGAGGCTG 0.537 21 130 --- --- --- --- OR4M2 390538 broad.mit.edu 37 15 22369362 22369362 + Missense_Mutation SNP C C A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr15:22369362C>A ENST00000332663.2 + 1 885 c.787C>A c.(787-789)Cca>Aca p.P263T RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P263T(1) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TTATGCTCGCCCATTTGACTC 0.418 39 616 --- --- --- --- GPR139 124274 broad.mit.edu 37 16 20043984 20043984 + Silent SNP G G T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr16:20043984G>T ENST00000570682.1 - 2 435 c.135C>A c.(133-135)atC>atA p.I45I NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 45 integral to membrane|plasma membrane p.I45I(1) autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 TCACTGTCAAGATATTTGCTG 0.478 4 48 --- --- --- --- GSG1L 146395 broad.mit.edu 37 16 27802719 27802719 + Missense_Mutation SNP T T G TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr16:27802719T>G ENST00000380898.2 - 8 1106 c.557A>C c.(556-558)cAg>cCg p.Q186P GSG1L_ENST00000395724.3_Missense_Mutation_p.Q272P|GSG1L_ENST00000380897.3_Missense_Mutation_p.Q168P|GSG1L_ENST00000569166.1_Missense_Mutation_p.Q186P|GSG1L_ENST00000447459.2_Missense_Mutation_p.Q323P Q6UXU4 GSG1L_HUMAN GSG1-like 323 integral to membrane p.Q168P(1)|p.Q323P(1) endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4) 17 GACCCAGCACTGTCGGTTCAG 0.642 14 96 --- --- --- --- VPS35 55737 broad.mit.edu 37 16 46712857 46712857 + Missense_Mutation SNP G G C TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr16:46712857G>C ENST00000299138.7 - 6 776 c.718C>G c.(718-720)Cag>Gag p.Q240E VPS35_ENST00000568642.1_5'UTR NM_018206.4 NP_060676.2 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 homolog (S. cerevisiae) 240 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding p.Q240E(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1) 23 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) ATATAAACCTGTTTGTAACGT 0.308 39 188 --- --- --- --- GLOD4 51031 broad.mit.edu 37 17 674590 674590 + Missense_Mutation SNP G G A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr17:674590G>A ENST00000301329.6 - 5 603 c.518C>T c.(517-519)gCt>gTt p.A173V GLOD4_ENST00000536578.1_Missense_Mutation_p.A164V|GLOD4_ENST00000301328.5_Missense_Mutation_p.A188V NM_016080.3 NP_057164.3 Q9HC38 GLOD4_HUMAN glyoxalase domain containing 4 188 mitochondrion p.A173V(1) endometrium(1)|large_intestine(1)|prostate(1) 3 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) GCCCAGCAAAGCCCTTTGCTT 0.368 51 396 --- --- --- --- DNAH2 146754 broad.mit.edu 37 17 7673934 7673934 + Silent SNP G G A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr17:7673934G>A ENST00000572933.1 + 26 5618 c.4158G>A c.(4156-4158)aaG>aaA p.K1386K DNAH2_ENST00000389173.2_Silent_p.K1386K Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1386 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.K1386K(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TACCCTACAAGGATAAGGGCC 0.552 42 182 --- --- --- --- ANKRD13B 124930 broad.mit.edu 37 17 27934857 27934857 + Missense_Mutation SNP G G A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr17:27934857G>A ENST00000394859.3 + 2 366 c.212G>A c.(211-213)gGc>gAc p.G71D RP11-68I3.2_ENST00000581474.1_RNA NM_152345.4 NP_689558.4 Q86YJ7 AN13B_HUMAN ankyrin repeat domain 13B 71 p.G71D(1) cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 16 CTGGCGCACGGCGCAGACGTG 0.701 16 72 --- --- --- --- TAF15 8148 broad.mit.edu 37 17 34174030 34174030 + Missense_Mutation SNP C C G TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr17:34174030C>G ENST00000592237.1 + 19 1803 c.1274C>G c.(1273-1275)gCc>gGc p.A425G TAF15_ENST00000311979.3_3'UTR|TAF15_ENST00000588240.1_3'UTR Q92804 RBP56_HUMAN TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa 0 21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) lung(1)|ovary(1)|skin(2)|stomach(1) 5 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) TTCCTCGTGGCCTCTTCTTGG 0.438 T """TEC, CHN1, ZNF384""" """extraskeletal myxoid chondrosarcomas, ALL""" 13 88 --- --- --- --- MED13 9969 broad.mit.edu 37 17 60140573 60140573 + Silent SNP G G A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr17:60140573G>A ENST00000397786.2 - 2 232 c.156C>T c.(154-156)ccC>ccT p.P52P NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 52 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.P52P(1) breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TGCTCAAAATGGGGTCTTCTT 0.453 67 287 --- --- --- --- NPTX1 4884 broad.mit.edu 37 17 78449346 78449346 + Missense_Mutation SNP G G T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr17:78449346G>T ENST00000306773.4 - 2 774 c.617C>A c.(616-618)aCc>aAc p.T206N NPTX1_ENST00000575212.1_5'UTR NM_002522.3 NP_002513.2 Q15818 NPTX1_HUMAN neuronal pentraxin I 206 central nervous system development|synaptic transmission|transport transport vesicle metal ion binding p.T206N(1) kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1) 11 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487) GTGCAGGGAGGTCAGGGCGGT 0.687 6 46 --- --- --- --- EPB41L3 23136 broad.mit.edu 37 18 5445182 5445182 + Missense_Mutation SNP T T G TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr18:5445182T>G ENST00000341928.2 - 4 783 c.443A>C c.(442-444)aAa>aCa p.K148T EPB41L3_ENST00000540638.2_Missense_Mutation_p.K148T|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K148T|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K148T|EPB41L3_ENST00000400111.3_Missense_Mutation_p.K148T NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 148 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity p.K148T(1) breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 AAAGTAGTCTTTCTCTAGCAA 0.408 48 278 --- --- --- --- SETBP1 26040 broad.mit.edu 37 18 42530401 42530401 + Missense_Mutation SNP G G A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr18:42530401G>A ENST00000282030.5 + 4 1392 c.1096G>A c.(1096-1098)Gaa>Aaa p.E366K NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 366 nucleus DNA binding p.E366K(2)|p.E312K(2) NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TGACAATACAGAAGGGAAAAG 0.453 Schinzel-Giedion syndrome 33 149 --- --- --- --- PIP5K1C 23396 broad.mit.edu 37 19 3643243 3643243 + Silent SNP G G A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr19:3643243G>A ENST00000335312.3 - 13 1735 c.1647C>T c.(1645-1647)taC>taT p.Y549Y PIP5K1C_ENST00000539785.1_Silent_p.Y549Y|PIP5K1C_ENST00000537021.1_Silent_p.Y549Y|PIP5K1C_ENST00000589578.1_Silent_p.Y549Y NM_001195733.1|NM_012398.2 NP_001182662.1|NP_036530.1 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 549 axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding p.Y549Y(1) large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) TCGCCCACCTGTACCGCGGCT 0.657 14 64 --- --- --- --- BCKDHA 593 broad.mit.edu 37 19 41903833 41903833 + Missense_Mutation SNP C C A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr19:41903833C>A ENST00000269980.2 + 1 469 c.101C>A c.(100-102)gCt>gAt p.A34D BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000457836.2_Intron NM_000709.3|NM_001164783.1 NP_000700.1|NP_001158255.1 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha polypeptide 34 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding p.A34D(1) central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 10 CGGGGACTGGCTAGATCTGTG 0.602 6 57 --- --- --- --- ATP1A3 478 broad.mit.edu 37 19 42492276 42492276 + Missense_Mutation SNP T T C TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr19:42492276T>C ENST00000545399.1 - 4 361 c.208A>G c.(208-210)Aaa>Gaa p.K70E ATP1A3_ENST00000543770.1_Missense_Mutation_p.K68E|ATP1A3_ENST00000602133.1_Missense_Mutation_p.K27E|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000302102.5_Missense_Mutation_p.K57E NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 57 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity p.K57E(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 TCCTGGGCTTTGCTGTGGGTC 0.627 20 113 --- --- --- --- GLTSCR1 29998 broad.mit.edu 37 19 48176998 48176998 + Missense_Mutation SNP C C A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr19:48176998C>A ENST00000396720.3 + 4 257 c.63C>A c.(61-63)gaC>gaA p.D21E CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 21 protein binding p.D21E(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) CCCTCAATGACTTCTTGCATG 0.592 28 132 --- --- --- --- ZNF616 90317 broad.mit.edu 37 19 52619794 52619794 + Missense_Mutation SNP G G C TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr19:52619794G>C ENST00000600228.1 - 4 884 c.623C>G c.(622-624)aCt>aGt p.T208S ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T208S(1) breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) TTTCTCTGTAGTATGTATCCT 0.393 6 294 --- --- --- --- ZNF17 7565 broad.mit.edu 37 19 57931923 57931923 + Missense_Mutation SNP G G A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr19:57931923G>A ENST00000307658.7 + 4 1332 c.1069G>A c.(1069-1071)Gaa>Aaa p.E357K ZNF17_ENST00000601808.1_Missense_Mutation_p.E355K|AC004076.7_ENST00000597410.1_Intron P17021 ZNF17_HUMAN zinc finger protein 17 355 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E355K(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) TCACACTGGAGAAAGGCCTTT 0.388 42 187 --- --- --- --- STK35 140901 broad.mit.edu 37 20 2083973 2083973 + Missense_Mutation SNP C C T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr20:2083973C>T ENST00000381482.3 + 2 1125 c.854C>T c.(853-855)tCg>tTg p.S285L STK35_ENST00000400064.3_Missense_Mutation_p.S113L|STK35_ENST00000246032.3_Missense_Mutation_p.S152L Q8TDR2 STK35_HUMAN serine/threonine kinase 35 285 Protein kinase. cytoplasm|nucleolus ATP binding|protein serine/threonine kinase activity p.S285L(1) large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2) 13 AACAAGAGCTCGCAGCTTTAC 0.647 6 63 --- --- --- --- ZNF341 84905 broad.mit.edu 37 20 32379198 32379198 + Nonsense_Mutation SNP G G T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr20:32379198G>T ENST00000375200.1 + 15 2805 c.2440G>T c.(2440-2442)Gag>Tag p.E814* RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|ZNF341_ENST00000342427.2_Nonsense_Mutation_p.E807*|RP4-553F4.6_ENST00000423074.1_RNA NM_001282933.1 NP_001269862.1 Q9BYN7 ZN341_HUMAN zinc finger protein 341 814 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E807*(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 CGCGGAAACTGAGCTGGTGGT 0.711 7 69 --- --- --- --- APOL1 8542 broad.mit.edu 37 22 36661373 36661373 + Missense_Mutation SNP G G T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr22:36661373G>T ENST00000319136.4 + 7 806 c.539G>T c.(538-540)gGg>gTg p.G180V APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000426053.1_Missense_Mutation_p.G146V|APOL1_ENST00000347595.7_Missense_Mutation_p.G43V|APOL1_ENST00000397279.4_Missense_Mutation_p.G164V|APOL1_ENST00000397278.3_Missense_Mutation_p.G164V|APOL1_ENST00000422706.1_Missense_Mutation_p.G164V NM_145343.2 NP_663318.1 O14791 APOL1_HUMAN apolipoprotein L, 1 164 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding p.G180V(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 CTTGCAGATGGGGTTCAGAAG 0.522 39 215 --- --- --- --- TBC1D22A 25771 broad.mit.edu 37 22 47432981 47432981 + Missense_Mutation SNP C C T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr22:47432981C>T ENST00000337137.4 + 11 1382 c.1216C>T c.(1216-1218)Cac>Tac p.H406Y TBC1D22A_ENST00000406733.1_Missense_Mutation_p.H359Y|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.H347Y|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.H328Y NM_001284304.1|NM_001284305.1|NM_014346.2 NP_001271233.1|NP_001271234.1|NP_055161.1 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 406 Rab-GAP TBC. intracellular protein homodimerization activity|Rab GTPase activator activity p.H406Y(1) breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) AGTGCACCGGCACCTGGACCA 0.597 17 110 --- --- --- --- TSIX 9383 broad.mit.edu 37 X 73046744 73046744 + RNA SNP T T C TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chrX:73046744T>C ENST00000604411.1 + 0 34705 XIST_ENST00000429829.1_lincRNA NR_003255.2 TCTTAAGACTTCTAACTCAAG 0.502 43 70 --- --- --- --- TSIX 9383 broad.mit.edu 37 X 73046745 73046745 + RNA SNP C C T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chrX:73046745C>T ENST00000604411.1 + 0 34706 XIST_ENST00000429829.1_lincRNA NR_003255.2 CTTAAGACTTCTAACTCAAGC 0.502 46 68 --- --- --- --- MAGEA11 4110 broad.mit.edu 37 X 148798036 148798036 + Missense_Mutation SNP T T A TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chrX:148798036T>A ENST00000355220.5 + 5 992 c.890T>A c.(889-891)cTc>cAc p.L297H MAGEA11_ENST00000333104.4_Missense_Mutation_p.L268H NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 297 MAGE. cytoplasm|nucleus protein binding p.L297H(1) cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) TCCCTCAACCTCTCTTATGAT 0.498 56 78 --- --- --- --- TTC4 7268 broad.mit.edu 37 1 55186887 55186893 + Frame_Shift_Del DEL CCTGCCA CCTGCCA - TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr1:55186887_55186893delCCTGCCA ENST00000371281.3 + 4 530_536 c.443_449delCCTGCCA c.(442-450)ccctgccacfs p.PCH148fs TTC4_ENST00000371284.5_3'UTR|MROH7-TTC4_ENST00000414150.2_3'UTR NM_004623.4 NP_004614.3 O95801 TTC4_HUMAN tetratricopeptide repeat domain 4 148 binding breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1) 9 AAGCTAAAACCCTGCCACCTCAAAGCA 0.357 8 85 --- --- --- --- RASAL2 9462 broad.mit.edu 37 1 178433459 178433461 + In_Frame_Del DEL CAG CAG - TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr1:178433459_178433461delCAG ENST00000448150.3 + 15 4084_4086 c.3266_3268delCAG c.(3265-3270)acagca>aca p.A1091del RASAL2_ENST00000367649.3_In_Frame_Del_p.A1102del|RASAL2_ENST00000462775.1_In_Frame_Del_p.A961del NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 961 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 GTAGAGAGGACAGCAGCCTGGGT 0.483 14 103 --- --- --- --- SDAD1 55153 broad.mit.edu 37 4 76888458 76888458 + Frame_Shift_Del DEL C C - TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr4:76888458delC ENST00000356260.5 - 12 1135 c.1017delG c.(1015-1017)ttgfs p.L339fs SDAD1_ENST00000513089.1_Intron|SDAD1_ENST00000395711.4_Frame_Shift_Del_p.L302fs NM_018115.2 NP_060585.2 Q9NVU7 SDA1_HUMAN SDA1 domain containing 1 339 protein transport|ribosomal large subunit biogenesis nucleolus protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GAAACCTTTGCAAAAAGGGAT 0.418 15 60 --- --- --- --- GAPVD1 26130 broad.mit.edu 37 9 128113082 128113086 + Frame_Shift_Del DEL TGCGC TGCGC - TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr9:128113082_128113086delTGCGC ENST00000470056.1 + 20 3579_3583 c.3419_3423delTGCGC c.(3418-3423)atgcgcfs p.MR1140fs GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.MR1167fs|GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.MR1119fs|GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.MR1159fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.MR1146fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.MR1185fs|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.MR1194fs|GAPVD1_ENST00000495955.1_Frame_Shift_Del_p.MR1185fs Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 1185 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CAAGAAACAATGCGCTGTGTGTGCC 0.361 32 264 --- --- --- --- PEAK1 79834 broad.mit.edu 37 15 77407550 77407566 + Frame_Shift_Del DEL CAGCAAGGAAATGACCA CAGCAAGGAAATGACCA - TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr15:77407550_77407566delCAGCAAGGAAATGACCA ENST00000560626.2 - 7 4648_4664 c.4173_4189delTGGTCATTTCCTTGCTG c.(4171-4191)tgtggtcatttccttgctgaafs p.CGHFLAE1391fs PEAK1_ENST00000312493.4_Frame_Shift_Del_p.CGHFLAE1391fs Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1391 Protein kinase. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding TTAGGGACTTCAGCAAGGAAATGACCACAGTCCTGCT 0.479 16 218 --- --- --- --- DSCAM 1826 broad.mit.edu 37 21 41424003 41424003 + Frame_Shift_Del DEL A A - TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29a06cd9-5e37-41b7-954f-173a2ab44179 695fd2d7-9426-45e1-81f0-79fbdf6ba0bf g.chr21:41424003delA ENST00000400454.1 - 30 5544 c.5067delT c.(5065-5067)gctfs p.A1689fs NM_001271534.1|NM_001389.3 NP_001258463.1|NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1689 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CTCCAAAGTCAGCATCCGTCA 0.532 19 168 --- --- --- ---