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 ACSM5 54988 broad.mit.edu 37 16 20423005 20423005 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr16:20423005G>A ENST00000331849.4 + 2 346 c.199G>A c.(199-201)Gaa>Aaa p.E67K ACSM5_ENST00000575584.1_Missense_Mutation_p.E67K NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 67 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 GAGTCGGCTGGAAGAGGTGAA 0.557000 5 222 0 0 1 0 0 SHOX 6473 broad.mit.edu 37 X 591887 591887 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chrX:591887C>T ENST00000381578.1 + 2 946 c.255C>T c.(253-255)ttC>ttT p.F85F SHOX_ENST00000334060.3_Silent_p.F85F|SHOX_ENST00000554971.1_Silent_p.F85F|SHOX_ENST00000381575.1_Silent_p.F85F NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 85 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGAAAGAATTCGGCACCGCGA 0.642000 11 354 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 55733472 55733472 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr3:55733472G>A ENST00000288221.6 - 16 3036 c.2781C>T c.(2779-2781)caC>caT p.H927H NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 927 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) ggtggtgatggtggtggtggt 0.507000 6 701 0 0 1 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938676 2938676 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:2938676G>A ENST00000378404.2 + 1 631 c.426G>A c.(424-426)gcG>gcA p.A142A NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 142 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CGGACCAGGCGGTGCTGGCTC 0.622000 7 203 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 10 397 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158262587 158262587 + Missense_Mutation SNP C C G TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr4:158262587C>G ENST00000296526.7 + 12 2341 c.2016C>G c.(2014-2016)gaC>gaG p.D672E GRIA2_ENST00000393815.2_Missense_Mutation_p.D625E|GRIA2_ENST00000264426.9_Missense_Mutation_p.D672E|GRIA2_ENST00000449365.1_Missense_Mutation_p.D625E|GRIA2_ENST00000507898.1_Missense_Mutation_p.D625E NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 672 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) GAACATTAGACTCTGGCTCCA 0.398000 8 562 0 0 1 0 0 WDR6 11180 broad.mit.edu 37 3 49051722 49051722 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr3:49051722G>A ENST00000395474.3 + 3 3032 c.2752G>A c.(2752-2754)Gta>Ata p.V918I WDR6_ENST00000448293.1_Missense_Mutation_p.V837I|WDR6_ENST00000415265.2_Missense_Mutation_p.V336I NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 888 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) TGATGGGGCCGTAAGGTGAGA 0.597000 OREG0015565 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 214 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19473538 19473538 + Missense_Mutation SNP C C A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:19473538C>A ENST00000507958.1 - 15 3160 c.2170G>T c.(2170-2172)Gac>Tac p.D724Y CDH18_ENST00000274170.4_Missense_Mutation_p.D724Y|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.D724Y Q13634 CAD18_HUMAN cadherin 18, type 2 724 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) GGGTCTAGGTCTGCTTCTGCC 0.483000 8 267 0.0381472 0.0382498 1 1 0 MMEL1 79258 broad.mit.edu 37 1 2528091 2528091 + Missense_Mutation SNP C C T rs150030274 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:2528091C>T ENST00000288709.6 - 14 1523 c.1283G>A c.(1282-1284)cGt>cAt p.R428H MMEL1_ENST00000502556.1_Missense_Mutation_p.R280H|MMEL1_ENST00000378412.3_Missense_Mutation_p.R437H NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 437 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) CACACATTCACGCCAGCGCAC 0.662000 12 245 0 0 1 0 0 REG1A 5967 broad.mit.edu 37 2 79348754 79348754 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:79348754G>A ENST00000233735.1 + 3 234 c.131G>A c.(130-132)cGc>cAc p.R44H NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 44 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding p.R44H(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 AATGCCTATCGCTCCTACTGC 0.537000 27 735 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75898211 75898211 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr6:75898211G>A ENST00000322507.8 - 8 1173 c.864C>T c.(862-864)gcC>gcT p.A288A COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Silent_p.A288A|COL12A1_ENST00000416123.2_Silent_p.A288A NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 288 VWFA 1. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 AAGGTGTGGAGGCAATTTGTT 0.408000 10 381 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175293512 175293512 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:175293512C>T ENST00000367674.1 - 22 4645 c.3937G>A c.(3937-3939)Ggg>Agg p.G1313R RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.G1313R NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 1313 Fibrinogen C-terminal. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CTGGACTCCCCGTACTTCCCA 0.498000 19 112 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 476448 476448 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:476448C>T ENST00000264938.3 - 13 1945 c.1936G>A c.(1936-1938)Gag>Aag p.E646K CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.E637K|CTD-2228K2.7_ENST00000607286.1_RNA NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 646 Interaction with PDZD3 (By similarity). cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TCCTGTTTCTCGTCCTCCGTG 0.612000 106 426 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 6 351 0 0 1 0 0 EML4 27436 broad.mit.edu 37 2 42531673 42531673 + Missense_Mutation SNP T T A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:42531673T>A ENST00000318522.5 + 17 2211 c.1949T>A c.(1948-1950)aTa>aAa p.I650K EML4_ENST00000453191.2_5'UTR|EML4_ENST00000402711.2_Missense_Mutation_p.I592K|EML4_ENST00000401738.3_Missense_Mutation_p.I661K NM_019063.3 NP_061936.2 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 650 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 GTGGTGGCCATAGGAACGCAC 0.458000 T ALK NSCLC 177 241 0 0 1 0 0 TUBB8 347688 broad.mit.edu 37 10 94582 94582 + Missense_Mutation SNP C C A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr10:94582C>A ENST00000447903.2 - 3 349 c.34G>T c.(34-36)Gtc>Ttc p.V12F TUBB8_ENST00000332708.5_Missense_Mutation_p.R47S|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.V84F Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 84 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) GGCCTGAAGACCTGCCCGAAG 0.662000 5 189 1.26484e-09 1.34412e-09 1 1 0 ATP10D 57205 broad.mit.edu 37 4 47578836 47578836 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr4:47578836C>T ENST00000273859.3 + 19 3682 c.3413C>T c.(3412-3414)tCa>tTa p.S1138L NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1138 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 TGTGGATTTTCAGGAACATCC 0.413000 378 794 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71490089 71490089 + Nonsense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:71490089C>T ENST00000296755.7 + 5 1205 c.907C>T c.(907-909)Cga>Tga p.R303* NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 303 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) ACACTTAGACCGAGTGGACTC 0.483000 238 261 0 0 1 0 0 PCDHGA2 0 broad.mit.edu 37 5 140720485 140720485 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:140720485C>T ENST00000394576.2 + 1 1947 c.1947C>T c.(1945-1947)caC>caT p.H649H PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCAGGACCACGGCCAGCCCC 0.706000 32 812 0 0 1 0 0 CHST11 50515 broad.mit.edu 37 12 105150785 105150785 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr12:105150785C>T ENST00000303694.5 + 3 702 c.263C>T c.(262-264)aCg>aTg p.T88M CHST11_ENST00000549260.1_Missense_Mutation_p.T83M NM_018413.5 NP_060883.1 Q9NPF2 CHSTB_HUMAN carbohydrate (chondroitin 4) sulfotransferase 11 88 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1) 18 GTGACAGACACGTGCCGAGCC 0.587000 6 196 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155301425 155301425 + Missense_Mutation SNP C C T rs143246976 by1000genomes TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr3:155301425C>T ENST00000460012.1 - 6 874 c.517G>A c.(517-519)Gac>Aac p.D173N PLCH1_ENST00000334686.6_Missense_Mutation_p.D173N|PLCH1_ENST00000447496.2_Missense_Mutation_p.D191N|PLCH1_ENST00000414191.1_Missense_Mutation_p.D173N|PLCH1_ENST00000494598.1_Missense_Mutation_p.D191N|PLCH1_ENST00000340059.7_Missense_Mutation_p.D191N Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 191 EF-hand 1. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TCATCTGTGTCGGCTTCCTGA 0.323000 10 217 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137622301 137622301 + Missense_Mutation SNP G G A rs148288567 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:137622301G>A ENST00000371817.3 + 7 1558 c.1144G>A c.(1144-1146)Gac>Aac p.D382N NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 382 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) CAGCACCGCCGACACCTCCAA 0.622000 15 315 0 0 1 0 0 ZKSCAN3 80317 broad.mit.edu 37 6 28329181 28329181 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr6:28329181C>T ENST00000377255.3 + 4 780 c.483C>T c.(481-483)agC>agT p.S161S ZKSCAN3_ENST00000252211.2_Silent_p.S161S|ZKSCAN3_ENST00000341464.5_Silent_p.S13S NM_001242894.1 NP_001229823.1 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 161 positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 CACAAAGTAGCCAATTTCAGC 0.438000 92 185 0 0 1 0 0 LMAN1L 79748 broad.mit.edu 37 15 75113416 75113416 + Splice_Site SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr15:75113416G>A ENST00000309664.5 + 9 1047 c.907_splice c.e9-1 p.G303_splice LMAN1L_ENST00000379709.3_Splice_Site_p.G291_splice|RP11-414J4.2_ENST00000564823.1_RNA NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 303 ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TAATCCCCAGGGGAAAGGCTC 0.617000 13 11 0 0 1 0 0 CCDC71 64925 broad.mit.edu 37 3 49200839 49200839 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr3:49200839C>T ENST00000321895.6 - 2 909 c.803G>A c.(802-804)cGg>cAg p.R268Q NM_022903.3 NP_075054.3 Q8IV32 CCD71_HUMAN coiled-coil domain containing 71 268 endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TTTCATTCGCCGGACACTGGG 0.642000 10 443 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16945409 16945409 + RNA SNP T T A rs13566 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:16945409T>A ENST00000412962.1 - 0 2110 GCGGGATAGCTCGGTGGAGAG 0.612000 12 129 0 0 1 0 0 PIK3R1 5295 broad.mit.edu 37 5 67589652 67589652 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:67589652G>A ENST00000521381.1 + 11 2031 c.1415G>A c.(1414-1416)cGc>cAc p.R472H PIK3R1_ENST00000336483.5_Missense_Mutation_p.R202H|PIK3R1_ENST00000523872.1_Missense_Mutation_p.R109H|PIK3R1_ENST00000521657.1_Missense_Mutation_p.R472H|PIK3R1_ENST00000274335.5_Missense_Mutation_p.R472H|PIK3R1_ENST00000320694.8_Missense_Mutation_p.R172H|PIK3R1_ENST00000396611.1_Missense_Mutation_p.R472H NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 472 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.D434_Q475del(1)|p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) GAATATACCCGCACATCCCAG 0.279000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 5 379 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350474 100350474 + RNA SNP T T C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:100350474T>C ENST00000542585.1 + 0 2894 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.S916P(2) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACCCACCATCTCCACGGAAAA 0.502000 10 1088 0 0 1 0 0 C6orf118 168090 broad.mit.edu 37 6 165715541 165715541 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr6:165715541G>A ENST00000230301.8 - 2 290 c.270C>T c.(268-270)cgC>cgT p.R90R C6orf118_ENST00000543069.1_5'UTR NM_144980.3 NP_659417.2 Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 90 p.R90R(1) breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CCTCAGAGGCGCGCTCCCCCT 0.657000 184 120 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121033012 121033012 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr11:121033012C>T ENST00000392793.1 + 16 5476 c.5205C>T c.(5203-5205)gcC>gcT p.A1735A TECTA_ENST00000264037.2_Silent_p.A1735A O75443 TECTA_HUMAN tectorin alpha 1735 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GCTCCCTGGCCGCCTACGGGG 0.547000 27 131 0 0 1 0 0 TMEM199 147007 broad.mit.edu 37 17 26685942 26685942 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr17:26685942C>T ENST00000292114.3 + 2 305 c.215C>T c.(214-216)tCc>tTc p.S72F CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000395404.3_Intron|TMEM199_ENST00000509083.1_Missense_Mutation_p.S72F|TMEM199_ENST00000581386.1_3'UTR NM_152464.1 NP_689677.1 Q8N511 TM199_HUMAN transmembrane protein 199 72 integral to membrane endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 6 all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) TTCTCAGATTCCAAACTATAC 0.438000 11 211 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14543062 14543062 + Silent SNP A A G rs45469106 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr18:14543062A>G ENST00000358970.5 - 1 83 c.84T>C c.(82-84)ttT>ttC p.F28F POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 28 F -> C (in dbSNP:rs45626231). NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AGCGGTGGTGAAACCACTTGC 0.547000 8 596 0 0 1 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629468 9629468 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:9629468G>A ENST00000382492.2 - 1 995 c.677C>T c.(676-678)gCg>gTg p.A226V CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 226 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 AGACAGCAACGCGCTGATGGG 0.498000 6 256 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76753947 76753947 + Silent SNP G G T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr18:76753947G>T ENST00000536229.3 + 1 2266 c.1557G>T c.(1555-1557)ctG>ctT p.L519L SALL3_ENST00000575389.2_Silent_p.L652L|SALL3_ENST00000537592.2_Silent_p.L652L Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 652 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TCGGGGGGCTGCTAGACTCGA 0.642000 8 61 0.000157383 0.000162166 1 1 0 GON4L 54856 broad.mit.edu 37 1 155774905 155774905 + Nonsense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:155774905G>A ENST00000437809.1 - 11 1602 c.1480C>T c.(1480-1482)Cga>Tga p.R494* GON4L_ENST00000271883.5_Nonsense_Mutation_p.R494*|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Nonsense_Mutation_p.R494*|GON4L_ENST00000361040.5_Nonsense_Mutation_p.R494* Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 494 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) GAACGCGTTCGAAATGCAATG 0.468000 12 352 0 0 1 0 0 FAM129B 64855 broad.mit.edu 37 9 130269516 130269516 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:130269516G>A ENST00000373312.3 - 14 2062 c.1849C>T c.(1849-1851)Cgg>Tgg p.R617W FAM129B_ENST00000373314.3_Missense_Mutation_p.R604W|FAM129B_ENST00000468379.1_5'UTR NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 617 protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 TTGGCGCGCCGTCGCTTTTCC 0.701000 9 150 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 7 143 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25924815 25924815 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr15:25924815C>T ENST00000356865.6 - 21 4284 c.4173G>A c.(4171-4173)ccG>ccA p.P1391P NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 1391 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) ACATGGGGGCCGGTGCGCTCA 0.687000 17 211 0 0 1 0 0 RAD17 5884 broad.mit.edu 37 5 68709938 68709938 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:68709938G>A ENST00000509734.1 + 18 2543 c.1865G>A c.(1864-1866)gGa>gAa p.G622E RAD17_ENST00000345306.6_Missense_Mutation_p.G611E|RAD17_ENST00000354868.5_Missense_Mutation_p.G611E|RAD17_ENST00000521422.1_Missense_Mutation_p.G446E|RAD17_ENST00000504177.1_3'UTR|RAD17_ENST00000354312.3_Missense_Mutation_p.G611E|RAD17_ENST00000358030.2_Missense_Mutation_p.G446E|RAD17_ENST00000305138.4_Missense_Mutation_p.G611E|RAD17_ENST00000282891.6_Missense_Mutation_p.G525E|RAD17_ENST00000361732.2_Missense_Mutation_p.G611E|RAD17_ENST00000380774.3_Missense_Mutation_p.G622E O75943 RAD17_HUMAN RAD17 homolog (S. pombe) 622 Interaction with MCM7. cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) CTTAATGGAGGACATTCTGCA 0.507000 Other conserved DNA damage response genes 6 624 0 0 1 0 0 ELFN1 392617 broad.mit.edu 37 7 1785967 1785967 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:1785967G>A ENST00000424383.2 + 3 2222 c.1735G>A c.(1735-1737)Gag>Aag p.E579K ELFN1_ENST00000561626.1_Missense_Mutation_p.E579K|ELFN1_ENST00000541472.1_Missense_Mutation_p.E557K extracellular leucine-rich repeat and fibronectin type III domain containing 1 endometrium(1) 1 GCTCAAGTCCGAGTCCACCTC 0.657000 15 19 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101824552 101824552 + Missense_Mutation SNP C C A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:101824552C>A ENST00000375001.3 + 38 3980 c.3557C>A c.(3556-3558)gCc>gAc p.A1186D NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 1186 Nonhelical region 10 (NC10). Missing (in Ref. 2; AAC78500). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) CCCATTCCTGCCGACAGCCCT 0.443000 7 366 2.74318e-10 2.93182e-10 1 1 0 RXFP3 51289 broad.mit.edu 37 5 33937967 33937967 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:33937967C>T ENST00000330120.3 + 1 1477 c.1122C>T c.(1120-1122)agC>agT p.S374S NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 374 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 TCCCTGTGAGCGTGTGCCTAG 0.622000 27 527 0 0 1 0 0 TRIM67 440730 broad.mit.edu 37 1 231337128 231337128 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:231337128G>A ENST00000444294.3 + 5 2257 c.1399G>A c.(1399-1401)Gtc>Atc p.V467I TRIM67_ENST00000366652.2_Missense_Mutation_p.V467I|TRIM67_ENST00000366653.5_Missense_Mutation_p.V467I|TRIM67_ENST00000449018.3_Missense_Mutation_p.V405I NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 467 COS. cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) GATCAAGCGCGTCCAGGTGTC 0.532000 50 43 0 0 1 0 0 ATL2 64225 broad.mit.edu 37 2 38536594 38536594 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:38536594G>A ENST00000378954.4 - 9 999 c.998C>T c.(997-999)gCc>gTc p.A333V ATL2_ENST00000546051.1_Missense_Mutation_p.A162V|ATL2_ENST00000406122.1_Missense_Mutation_p.A162V|ATL2_ENST00000539122.1_Missense_Mutation_p.A162V|ATL2_ENST00000452935.2_Missense_Mutation_p.A315V|ATL2_ENST00000332337.4_Missense_Mutation_p.A315V|ATL2_ENST00000402054.1_Missense_Mutation_p.A162V|ATL2_ENST00000419554.2_Missense_Mutation_p.A333V NM_001135673.1|NM_022374.2 NP_001129145.1|NP_071769.2 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 333 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 ATTTTCAGGGGCAAGCAGCAA 0.333000 5 388 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54604068 54604068 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr3:54604068G>A ENST00000474759.1 + 8 873 c.825G>A c.(823-825)gcG>gcA p.A275A CACNA2D3_ENST00000415676.2_Silent_p.A275A|CACNA2D3_ENST00000490478.1_Silent_p.A181A|CACNA2D3_ENST00000288197.5_Silent_p.A275A NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 275 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TGACTATCGCGAAGCAAACAG 0.473000 12 599 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104640413 104640413 + Missense_Mutation SNP C C A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr4:104640413C>A ENST00000304883.2 - 1 560 c.420G>T c.(418-420)ttG>ttT p.L140F NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 140 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) TGAAATTGACCAACGTGTTGA 0.532000 6 229 5.18039e-06 5.42777e-06 1 1 0 APOB 338 broad.mit.edu 37 2 21250863 21250863 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:21250863C>T ENST00000233242.1 - 14 2031 c.1904G>A c.(1903-1905)cGg>cAg p.R635Q APOB_ENST00000399256.4_Missense_Mutation_p.R635Q NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 635 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTGATAGTTCCGAGAGAATTT 0.363000 119 437 0 0 1 0 0 ACTL7A 10881 broad.mit.edu 37 9 111625720 111625720 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:111625720G>A ENST00000333999.3 + 1 1118 c.1118G>A c.(1117-1119)cGt>cAt p.R373H NM_006687.2 NP_006678.1 Q9Y615 ACL7A_HUMAN actin-like 7A 373 cytoplasm|cytoskeleton|protein complex structural constituent of cytoskeleton breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TTCCCTAACCGTCTGCAGAAG 0.587000 130 174 0 0 1 0 0 DBC1 0 broad.mit.edu 37 9 121930086 121930086 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:121930086C>T ENST00000265922.3 - 8 2023 c.1562G>A c.(1561-1563)cGc>cAc p.R521H DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 521 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CATGCGCTTGCGCCACCGAGG 0.562000 5 184 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 5 119 0.000157383 0.000162166 1 1 0 PAX8 7849 broad.mit.edu 37 2 114002064 114002064 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:114002064C>T ENST00000429538.3 - 4 523 c.329G>A c.(328-330)cGg>cAg p.R110Q AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.R110Q|AC016683.6_ENST00000422956.1_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.R110Q|PAX8_ENST00000263335.7_Missense_Mutation_p.R110Q|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.R110Q|AC016683.6_ENST00000333145.5_RNA NM_003466.3 NP_003457.1 Q06710 PAX8_HUMAN paired box 8 110 Paired. branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity PAX8/PPARG(117) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1) 20 AGCCAGGAGCCGGTCTCGGAT 0.597000 T PPARG follicular thyroid Thyroid dysgenesis 11 1010 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2816009 2816009 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr16:2816009G>A ENST00000301740.8 + 11 6029 c.5480G>A c.(5479-5481)cGg>cAg p.R1827Q NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1827 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 TCACCTGCCCGGCAGGAAAGT 0.652000 5 174 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55739269 55739269 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr6:55739269G>A ENST00000370830.3 - 1 1093 c.395C>T c.(394-396)aCg>aTg p.T132M BMP5_ENST00000446683.2_Missense_Mutation_p.T132M NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 132 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) CAGAGGAGTCGTCCGAGATAA 0.512000 18 261 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113711433 113711433 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr11:113711433G>A ENST00000003302.4 - 5 489 c.421C>T c.(421-423)Cgc>Tgc p.R141C USP28_ENST00000545540.1_Missense_Mutation_p.R16C|USP28_ENST00000260188.5_Missense_Mutation_p.R141C|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000537706.1_Missense_Mutation_p.R141C NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 141 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) ACTTCACAGCGTTTTCTCTTT 0.423000 6 281 0 0 1 0 0 DHX15 1665 broad.mit.edu 37 4 24543566 24543566 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr4:24543566C>T ENST00000336812.4 - 8 1571 c.1415G>A c.(1414-1416)cGa>cAa p.R472Q NM_001358.2 NP_001349.2 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 15 472 Helicase C-terminal. mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 30 Breast(46;0.0503) ACGTCCAGCTCGACCAGCCCT 0.433000 6 411 0 0 1 0 0 HOXD3 3232 broad.mit.edu 37 2 177036748 177036748 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:177036748G>A ENST00000468418.3 + 4 3135 c.1045G>A c.(1045-1047)Gcc>Acc p.A349T HOXD3_ENST00000249440.3_Missense_Mutation_p.A349T|HOXD3_ENST00000410016.1_Missense_Mutation_p.A349T P31249 HXD3_HUMAN homeobox D3 349 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) CTTCGCCAGCGCCAACTTGCA 0.697000 19 49 0 0 1 0 0 SBSN 374897 broad.mit.edu 37 19 36019170 36019170 + Missense_Mutation SNP C C T rs138249808 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:36019170C>T ENST00000452271.2 - 1 42 c.14G>A c.(13-15)cGt>cAt p.R5H SBSN_ENST00000518157.1_Missense_Mutation_p.R5H NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 5 extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCCGACCAGACGTGCAAGATG 0.587000 5 125 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26881445 26881445 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:26881445C>T ENST00000231021.4 - 12 2342 c.2170G>A c.(2170-2172)Gac>Aac p.D724N NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 724 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GGGTCTGCGTCGTTTTCTTTT 0.418000 27 458 0 0 1 0 0 IQGAP1 8826 broad.mit.edu 37 15 90997745 90997745 + Missense_Mutation SNP G G A rs147346534 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr15:90997745G>A ENST00000268182.5 + 14 1697 c.1573G>A c.(1573-1575)Gtg>Atg p.V525M IQGAP1_ENST00000560738.1_Intron NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 525 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CCAAGCTTGCGTGGACCATGT 0.453000 6 382 0 0 1 0 0 ABTB2 25841 broad.mit.edu 37 11 34218997 34218997 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr11:34218997C>T ENST00000435224.2 - 3 1543 c.1119G>A c.(1117-1119)ccG>ccA p.P373P ABTB2_ENST00000298992.2_Silent_p.P187P|ABTB2_ENST00000530814.1_5'UTR NM_145804.2 NP_665803.2 A8K6S9 A8K6S9_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 187 DNA binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) TGGGCTGTGGCGGCTGGCGGG 0.687000 4 122 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89395322 89395322 + RNA SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr11:89395322C>T ENST00000532352.1 + 0 720 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTTCAGAATACGCTTATAGGC 0.343000 4 101 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25783764 25783764 + Missense_Mutation SNP C C T rs79564666 by1000genomes TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr17:25783764C>T ENST00000319524.6 + 1 95 c.95C>T c.(94-96)gCc>gTc p.A32V KSR1_ENST00000509603.2_Missense_Mutation_p.A32V Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 30 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GGCGCAGGGGCCGCGGCCAGC 0.736000 7 51 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34286094 34286094 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:34286094C>T ENST00000373381.4 - 8 1351 c.1175G>A c.(1174-1176)gGc>gAc p.G392D NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 352 Sushi 2. integral to membrane|plasma membrane protein binding p.G352D(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TAGTCTTTTGCCCCTTTCGGG 0.463000 7 721 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150164276 150164276 + Nonsense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:150164276C>T ENST00000307271.3 + 2 1064 c.490C>T c.(490-492)Cga>Tga p.R164* NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 164 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CTATGAGGGCCGATACTGCAT 0.443000 6 712 0 0 1 0 0 DHX37 57647 broad.mit.edu 37 12 125435335 125435335 + Missense_Mutation SNP C C T rs140554912 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr12:125435335C>T ENST00000308736.2 - 22 2982 c.2884G>A c.(2884-2886)Gac>Aac p.D962N DHX37_ENST00000544745.1_Missense_Mutation_p.D749N NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 962 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) AAGACAGGGTCGTCGAGGAGA 0.532000 47 213 0 0 1 0 0 VN1R4 317703 broad.mit.edu 37 19 53770069 53770069 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:53770069C>T ENST00000311170.4 - 1 903 c.850G>A c.(850-852)Gtt>Att p.V284I NM_173857.2 NP_776256.2 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 284 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) CTCATGAGAACAAAGGGGCTG 0.393000 HNSCC(26;0.072) 5 294 0 0 1 0 0 DMKN 93099 broad.mit.edu 37 19 36000839 36000839 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:36000839G>A ENST00000339686.3 - 7 1188 c.1012C>T c.(1012-1014)Cgc>Tgc p.R338C DMKN_ENST00000424570.2_Missense_Mutation_p.R338C|DMKN_ENST00000440396.1_Missense_Mutation_p.R338C|DMKN_ENST00000467637.1_Missense_Mutation_p.R51C|DMKN_ENST00000461300.1_Intron|DMKN_ENST00000392206.2_Missense_Mutation_p.R51C|DMKN_ENST00000447113.2_Missense_Mutation_p.R338C|DMKN_ENST00000480502.1_Missense_Mutation_p.R51C|DMKN_ENST00000419602.1_Missense_Mutation_p.R277C|DMKN_ENST00000414866.2_Missense_Mutation_p.R51C|DMKN_ENST00000458071.1_Missense_Mutation_p.R51C|DMKN_ENST00000472252.2_Intron|DMKN_ENST00000436012.1_Intron|DMKN_ENST00000451297.2_Intron|DMKN_ENST00000492341.2_Intron|DMKN_ENST00000474928.1_5'UTR|DMKN_ENST00000488892.1_Intron|DMKN_ENST00000429837.1_Missense_Mutation_p.R277C|DMKN_ENST00000443640.1_Missense_Mutation_p.R51C|DMKN_ENST00000462126.1_Intron|DMKN_ENST00000402589.2_Missense_Mutation_p.R51C|DMKN_ENST00000418261.1_Missense_Mutation_p.R338C|DMKN_ENST00000602781.1_Missense_Mutation_p.R51C NM_033317.4 NP_201574.3 Q6E0U4 DMKN_HUMAN dermokine 338 Gly-rich. extracellular region NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCGCTCCCGCGGGCTTCATTC 0.582000 OREG0025431 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 321 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128842373 128842373 + Missense_Mutation SNP T T C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr11:128842373T>C ENST00000310343.9 - 21 3985 c.3986A>G c.(3985-3987)aAt>aGt p.N1329S ARHGAP32_ENST00000392657.3_Missense_Mutation_p.N980S|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.N980S NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1329 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 TAATCCTATATTGGTTGCTGC 0.478000 31 419 0 0 1 0 0 CYP2E1 1571 broad.mit.edu 37 10 135345639 135345639 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr10:135345639G>A ENST00000463117.2 + 6 771 c.499G>A c.(499-501)Gac>Aac p.D167N SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.D167N|CYP2E1_ENST00000480558.1_3'UTR P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, polypeptide 1 167 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) CCAGCCTTTCGACCCCACCTT 0.552000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 10 565 0 0 1 0 0 POP4 10775 broad.mit.edu 37 19 30099608 30099608 + Missense_Mutation SNP G G A rs144806266 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:30099608G>A ENST00000585603.1 + 2 2354 c.52G>A c.(52-54)Gat>Aat p.D18N POP4_ENST00000392279.3_Silent_p.P11P|POP4_ENST00000591824.1_3'UTR|POP4_ENST00000221770.3_De_novo_Start_InFrame O95707 RPP29_HUMAN processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) 18 mRNA cleavage|rRNA processing|tRNA processing nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease P activity|RNA binding p.D18Y(1) breast(1)|endometrium(1)|lung(4) 6 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) GAATGACTCCGATGTCCAGGT 0.488000 15 426 0 0 1 0 0 PCDHGA4 0 broad.mit.edu 37 5 140734992 140734992 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:140734992C>T ENST00000571252.1 + 1 225 c.225C>T c.(223-225)ttC>ttT p.F75F PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCAGCTTTTCGCCCTGAACC 0.637000 11 532 0 0 1 0 0 KDM4C 23081 broad.mit.edu 37 9 6980958 6980958 + Missense_Mutation SNP A A G TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:6980958A>G ENST00000381309.3 + 9 1520 c.955A>G c.(955-957)Atg>Gtg p.M319V KDM4C_ENST00000428870.2_Missense_Mutation_p.M6V|KDM4C_ENST00000536108.1_Missense_Mutation_p.M138V|KDM4C_ENST00000543771.1_Missense_Mutation_p.M319V|KDM4C_ENST00000381306.3_Missense_Mutation_p.M319V|KDM4C_ENST00000442236.2_Missense_Mutation_p.M138V|KDM4C_ENST00000535193.1_Missense_Mutation_p.M341V NM_015061.3 NP_055876.2 Q9H3R0 KDM4C_HUMAN lysine (K)-specific demethylase 4C 319 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 GAAGATTTCAATGGATATCTT 0.423000 171 183 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9578330 9578330 + Silent SNP G G T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:9578330G>T ENST00000301480.4 - 10 1506 c.1293C>A c.(1291-1293)acC>acA p.T431T NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 431 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 CACATTTAAAGGTTTTCTCTC 0.413000 5 284 0.000602214 0.000613732 1 1 0 HEPACAM 220296 broad.mit.edu 37 11 124793759 124793759 + Missense_Mutation SNP C C A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr11:124793759C>A ENST00000298251.4 - 3 980 c.575G>T c.(574-576)aGa>aTa p.R192I NM_152722.4 NP_689935.2 Q14CZ8 HECAM_HUMAN hepatic and glial cell adhesion molecule 192 Ig-like C2-type. cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) CAGGAGCATTCTCGAGTCATT 0.582000 13 100 0.00010058 0.000104212 1 1 0 TCF20 6942 broad.mit.edu 37 22 42605760 42605760 + Missense_Mutation SNP T T C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr22:42605760T>C ENST00000359486.3 - 1 5688 c.5552A>G c.(5551-5553)gAa>gGa p.E1851G TCF20_ENST00000335626.4_Missense_Mutation_p.E1851G|TCF20_ENST00000404876.1_Missense_Mutation_p.E152G NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1851 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GACCCAAAATTCATTGCTGTC 0.517000 155 728 0 0 1 0 0 ALDH5A1 7915 broad.mit.edu 37 6 24515421 24515421 + Silent SNP A A G TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr6:24515421A>G ENST00000357578.3 + 5 898 c.753A>G c.(751-753)tcA>tcG p.S251S ALDH5A1_ENST00000546278.1_Silent_p.S163S|ALDH5A1_ENST00000348925.2_Silent_p.S264S|ALDH5A1_ENST00000491546.1_Silent_p.S223S NM_001080.3 NP_001071.1 P51649 SSDH_HUMAN aldehyde dehydrogenase 5 family, member A1 251 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1) 20 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) GGATTCCTTCAGGTGTATACA 0.378000 102 366 0 0 1 0 0 KIR3DX1 0 broad.mit.edu 37 19 55045157 55045157 + Missense_Mutation SNP A A G TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:55045157A>G ENST00000335056.3 + 3 315 c.277A>G c.(277-279)Aga>Gga p.R93G endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) AGGGACCTACAGATGTGTTGG 0.527000 39 121 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124380681 124380681 + Nonsense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr10:124380681G>A ENST00000338354.3 + 41 5112 c.5006G>A c.(5005-5007)tGg>tAg p.W1669* DMBT1_ENST00000344338.3_Nonsense_Mutation_p.W1659*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.W1041*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.W1041*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.W1659*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.W1669*|DMBT1_ENST00000359586.6_Intron Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1669 SRCR 13. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GATGACAGCTGGGACACCAAT 0.612000 34 1502 0 0 1 0 0 CXCR1 3577 broad.mit.edu 37 2 219029669 219029669 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:219029669G>A ENST00000295683.2 - 2 386 c.266C>T c.(265-267)gCc>gTc p.A89V NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 89 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 CAAGGTCAGGGCAAAGAGTAG 0.557000 13 429 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74622597 74622597 + Missense_Mutation SNP C C A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr15:74622597C>A ENST00000321288.5 + 14 1967 c.1967C>A c.(1966-1968)gCc>gAc p.A656D CCDC33_ENST00000398814.3_Missense_Mutation_p.A453D|CCDC33_ENST00000268082.4_Missense_Mutation_p.A46D|CCDC33_ENST00000558821.1_Missense_Mutation_p.A46D Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 656 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CGGAGACAGGCCAGCATCCTG 0.622000 11 74 1.58986e-06 1.67994e-06 1 1 0 HTR5A 3361 broad.mit.edu 37 7 154876006 154876006 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:154876006G>A ENST00000287907.2 + 2 1459 c.883G>A c.(883-885)Gtg>Atg p.V295M HTR5A_ENST00000486819.1_3'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 295 integral to plasma membrane serotonin receptor activity p.V295M(2) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) TGGCGTGTTCGTGCTCTGCTG 0.622000 28 625 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51175457 51175457 + Missense_Mutation SNP C C T rs149603480 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr16:51175457C>T ENST00000440970.1 - 2 816 c.385G>A c.(385-387)Gtc>Atc p.V129I SALL1_ENST00000251020.4_Missense_Mutation_p.V226I|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 226 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.V226I(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AGGGCTGGGACGGCCAGCTTG 0.592000 225 243 0 0 1 0 0 ARHGEF37 389337 broad.mit.edu 37 5 149011717 149011717 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:149011717G>A ENST00000333677.6 + 13 2154 c.1991G>A c.(1990-1992)cGg>cAg p.R664Q NM_001001669.2 NP_001001669.2 A1IGU5 ARH37_HUMAN Rho guanine nucleotide exchange factor (GEF) 37 664 SH3 2. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3) 17 GCCAGGGCTCGGAGCCCAGTT 0.592000 11 264 0 0 1 0 0 SF3B14 0 broad.mit.edu 37 2 24299094 24299094 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:24299094C>T ENST00000233468.4 - 1 219 c.6G>A c.(4-6)gcG>gcA p.A2A NM_016047.3 NP_057131.1 Q9Y3B4 PM14_HUMAN 2 nuclear mRNA splicing, via spliceosome nucleoplasm|U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding NS(1)|kidney(1)|large_intestine(1)|lung(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGCTTGCATCGCCATCTTGG 0.567000 173 337 0 0 1 0 0 SOCS4 122809 broad.mit.edu 37 14 55510690 55510690 + Nonsense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr14:55510690C>T ENST00000395472.2 + 2 1263 c.931C>T c.(931-933)Cga>Tga p.R311* SOCS4_ENST00000555846.1_Nonsense_Mutation_p.R311*|SOCS4_ENST00000339298.2_Nonsense_Mutation_p.R311* NM_080867.2|NM_199421.1 NP_543143.1|NP_955453.1 Q8WXH5 SOCS4_HUMAN suppressor of cytokine signaling 4 311 SH2. intracellular signal transduction|negative regulation of signal transduction|regulation of growth p.R311*(1) central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 14 CTTTTTACTTCGAGACTCAGC 0.418000 8 537 0 0 1 0 0 EPHB3 2049 broad.mit.edu 37 3 184298566 184298566 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr3:184298566G>A ENST00000330394.2 + 13 2890 c.2438G>A c.(2437-2439)cGg>cAg p.R813Q EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 813 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) ATAGCCTATCGGAAGTTCACT 0.602000 117 116 0 0 1 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 76779655 76779655 + Missense_Mutation SNP T T C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:76779655T>C ENST00000328299.3 + 2 332 c.184T>C c.(184-186)Tat>Cat p.Y62H ST6GALNAC3_ENST00000464140.1_3'UTR NM_152996.2 NP_694541.2 Q8NDV1 SIA7C_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 62 protein glycosylation integral to Golgi membrane sialyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 TCGAACTCACTATGGATACAT 0.443000 8 213 0 0 1 0 0 CPNE3 8895 broad.mit.edu 37 8 87549866 87549866 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr8:87549866C>T ENST00000521271.1 + 7 697 c.535C>T c.(535-537)Cgg>Tgg p.R179W CPNE3_ENST00000198765.4_Missense_Mutation_p.R179W NM_003909.3 NP_003900.1 O75131 CPNE3_HUMAN copine III 179 C2 2. lipid metabolic process|vesicle-mediated transport cytosol calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity p.R179W(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 23 AATGGTTCATCGGACAGAGGT 0.323000 16 401 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:155887393T>G ENST00000368320.3 - 11 1362 c.1337A>C c.(1336-1338)cAg>cCg p.Q446P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P Q7Z7F0 K0907_HUMAN KIAA0907 446 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.567000 15 101 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25783779 25783779 + Missense_Mutation SNP C C A rs143611966 by1000genomes TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr17:25783779C>A ENST00000319524.6 + 1 110 c.110C>A c.(109-111)gCg>gAg p.A37E KSR1_ENST00000509603.2_Missense_Mutation_p.A37E Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 35 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.A37E(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GCCAGCCGGGCGCTGCAGCAG 0.741000 6 80 0.00448238 0.00454328 1 1 0 OR10A6 390093 broad.mit.edu 37 11 7950055 7950055 + Missense_Mutation SNP T T C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr11:7950055T>C ENST00000309838.2 - 1 154 c.155A>G c.(154-156)gAc>gGc p.D52G NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GAGGCTCTGGTCTAGGGAGAC 0.478000 11 410 0 0 1 0 0 IAPP 3375 broad.mit.edu 37 12 21531268 21531268 + Missense_Mutation SNP C C G TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr12:21531268C>G ENST00000240652.3 + 3 314 c.178C>G c.(178-180)Ctc>Gtc p.L60V SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000307378.6_Intron|IAPP_ENST00000539393.1_Missense_Mutation_p.L60V|SLCO1A2_ENST00000537524.1_Intron|IAPP_ENST00000542023.1_3'UTR NM_000415.2 NP_000406.1 P10997 IAPP_HUMAN islet amyloid polypeptide 60 apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction extracellular region|soluble fraction hormone activity lung(3) 3 Perindopril(DB00790) TGGTGCCATTCTCTCATCTAC 0.453000 238 258 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 161924 161924 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:161924G>A ENST00000283426.6 + 10 1496 c.1446G>A c.(1444-1446)ctG>ctA p.L482L NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 482 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GACTACAGCTGGCGAAGGAGA 0.582000 46 199 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45855046 45855046 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr21:45855046G>A ENST00000397928.1 + 28 4452 c.4007G>A c.(4006-4008)cGc>cAc p.R1336H TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1282H|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1336H|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1386H NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1336 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity p.R1336H(1) breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CTGCGTGGGCGCGGGAGCCTC 0.667000 91 276 0 0 1 0 0 ZBED1 9189 broad.mit.edu 37 X 2408374 2408374 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chrX:2408374G>A ENST00000381223.4 - 2 590 c.387C>T c.(385-387)gcC>gcT p.A129A ZBED1_ENST00000381218.3_Silent_p.A129A|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.A129A NM_001171135.1|NM_001171136.1|NM_004729.3 NP_001164606.1|NP_001164607.1|NP_004720.1 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 129 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGCCCAGCACGGCGGCCGTCA 0.687000 5 172 0 0 1 0 0 AGFG2 3268 broad.mit.edu 37 7 100160565 100160565 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:100160565G>A ENST00000300176.4 + 9 1289 c.1167G>A c.(1165-1167)gcG>gcA p.A389A AGFG2_ENST00000474713.1_Intron|AGFG2_ENST00000262935.4_3'UTR NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 389 Pro-rich. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ATGGCTTGGCGCCAGGTAAGC 0.602000 9 176 0 0 1 0 0 TRAPPC11 60684 broad.mit.edu 37 4 184598641 184598641 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr4:184598641C>T ENST00000334690.6 + 8 967 c.765C>T c.(763-765)caC>caT p.H255H TRAPPC11_ENST00000357207.4_Silent_p.H255H|TRAPPC11_ENST00000511409.1_3'UTR NM_021942.5 NP_068761.4 Q7Z392 CD041_HUMAN trafficking protein particle complex 11 255 ATCTTGTACACGAATTGAGAG 0.323000 19 646 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140554443 140554443 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:140554443C>T ENST00000231137.3 + 1 2201 c.2027C>T c.(2026-2028)gCg>gTg p.A676V NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 676 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCCCGGAGGCGGCCCCGGAC 0.692000 31 410 0 0 1 0 0 TCP10 6953 broad.mit.edu 37 6 167796338 167796338 + Silent SNP G G A rs146766441 by1000genomes TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr6:167796338G>A ENST00000366827.2 - 2 235 c.24C>T c.(22-24)gcC>gcT p.A8A TCP10_ENST00000397829.4_Silent_p.A8A|TCP10_ENST00000476779.2_Silent_p.A8A Q12799 TCP10_HUMAN t-complex 10 35 cytosol NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) TGGGGACCTCGGCTGCTGCAG 0.667000 28 72 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75108727 75108727 + Missense_Mutation SNP C C T rs148337951 byFrequency TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:75108727C>T ENST00000326665.5 - 4 517 c.299G>A c.(298-300)cGa>cAa p.R100Q NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 100 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CCTCTGGATTCGCTCCTTCCT 0.323000 7 297 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25171679 25171679 + RNA SNP T T C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr13:25171679T>C ENST00000453498.1 + 0 1575 CTTCCCCTTCTGGGAAAGAAT 0.378000 68 60 0 0 1 0 0 METAP2 10988 broad.mit.edu 37 12 95907493 95907493 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr12:95907493G>A ENST00000323666.5 + 11 1479 c.1250G>A c.(1249-1251)cGc>cAc p.R417H METAP2_ENST00000546753.1_Missense_Mutation_p.R394H|METAP2_ENST00000261220.9_Missense_Mutation_p.R394H|METAP2_ENST00000551840.1_Missense_Mutation_p.R416H|METAP2_ENST00000550777.1_Missense_Mutation_p.R381H NM_006838.3 NP_006829.1 P50579 AMPM2_HUMAN methionyl aminopeptidase 2 417 N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|large_intestine(2)|lung(7)|prostate(1) 13 L-Methionine(DB00134) GCCTTCTGCCGCAGATGGCTG 0.408000 20 484 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 119915439 119915439 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:119915439G>A ENST00000331113.4 + 1 1718 c.753G>A c.(751-753)gcG>gcA p.A251A NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 251 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) TGGCTGCAGCGCCTAGTCGTT 0.532000 191 202 0 0 1 0 0 FAM110B 90362 broad.mit.edu 37 8 59059480 59059480 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr8:59059480G>A ENST00000361488.3 + 5 1571 c.691G>A c.(691-693)Gca>Aca p.A231T FAM110B_ENST00000520369.1_Intron NM_147189.2 NP_671722.1 Q8TC76 F110B_HUMAN family with sequence similarity 110, member B 231 microtubule organizing center|mitochondrion|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2) 26 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) GCCCAAAATCGCAGCCATCGC 0.627000 20 417 0 0 1 0 0 NFIB 4781 broad.mit.edu 37 9 14120485 14120485 + Missense_Mutation SNP T T C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:14120485T>C ENST00000380959.3 - 8 1672 c.1199A>G c.(1198-1200)aAg>aGg p.K400R NFIB_ENST00000543693.1_Missense_Mutation_p.K148R|NFIB_ENST00000380953.1_Missense_Mutation_p.K400R|NFIB_ENST00000397579.2_Missense_Mutation_p.K400R|NFIB_ENST00000380924.1_Missense_Mutation_p.K148R|NFIB_ENST00000380934.4_Missense_Mutation_p.K426R|NFIB_ENST00000397581.2_Missense_Mutation_p.K400R|NFIB_ENST00000397575.3_Missense_Mutation_p.K400R NM_005596.3 NP_005587.2 O00712 NFIB_HUMAN nuclear factor I/B 400 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) TACATAGTTCTTCAGAGTATC 0.443000 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" 12 557 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81172080 81172080 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr15:81172080G>A ENST00000394685.3 + 5 684 c.265G>A c.(265-267)Gac>Aac p.D89N KIAA1199_ENST00000356249.5_Missense_Mutation_p.D89N|KIAA1199_ENST00000220244.3_Missense_Mutation_p.D89N Q8WUJ3 K1199_HUMAN KIAA1199 89 G8. breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TAAAGACCACGACGAGCCGAT 0.517000 89 292 0 0 1 0 0 IDO2 169355 broad.mit.edu 37 8 39872943 39872943 + Missense_Mutation SNP C C G rs143841632 by1000genomes TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr8:39872943C>G ENST00000502986.2 + 11 1327 c.1085C>G c.(1084-1086)aCc>aGc p.T362S IDO2_ENST00000389060.4_Missense_Mutation_p.T349S|IDO2_ENST00000343295.4_3'UTR NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 349 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 TATCACATCACCATGGTCACC 0.547000 5 247 0 0 1 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92459385 92459385 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr15:92459385G>A ENST00000318445.6 + 2 557 c.343G>A c.(343-345)Gtc>Atc p.V115I SLCO3A1_ENST00000424469.2_Missense_Mutation_p.V115I NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 115 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) CGGCGGCATCGTCATGGCGCT 0.706000 4 70 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11291104 11291104 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:11291104C>T ENST00000361445.4 - 18 2733 c.2657G>A c.(2656-2658)cGt>cAt p.R886H NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 886 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 CCCTAACACACGGATGGCCTG 0.478000 87 213 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 6 245 0 0 1 0 0 AC009499.1 0 broad.mit.edu 37 2 33952796 33952796 + RNA SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:33952796C>T ENST00000366209.2 + 0 68 MYADML_ENST00000474610.1_RNA CAAGGGGAAGCGGGCCTGGGA 0.592000 51 74 0 0 1 0 0 ARID3B 10620 broad.mit.edu 37 15 74883672 74883672 + Silent SNP T T C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr15:74883672T>C ENST00000346246.5 + 6 1293 c.1062T>C c.(1060-1062)ctT>ctC p.L354L NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 354 Interaction with RB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.L354L(1) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 CCCCTGCCCTTCTCTCCCCAC 0.647000 6 499 0 0 1 0 0 LPPR5 0 broad.mit.edu 37 1 99418649 99418649 + Missense_Mutation SNP C C G TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:99418649C>G ENST00000370188.3 - 3 958 c.598G>C c.(598-600)Gtc>Ctc p.V200L LPPR5_ENST00000263177.4_Missense_Mutation_p.V200L NM_001010861.2 NP_001010861.1 Q32ZL2 LPPR5_HUMAN 200 integral to membrane hydrolase activity GCTGCATAGACACTGAGAGCT 0.388000 9 213 0 0 1 0 0 SLC25A36 55186 broad.mit.edu 37 3 140689817 140689817 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr3:140689817G>A ENST00000446041.2 + 5 659 c.434G>A c.(433-435)cGg>cAg p.R145Q SLC25A36_ENST00000324194.6_Missense_Mutation_p.R145Q|SLC25A36_ENST00000453248.2_Missense_Mutation_p.R119Q NM_001104647.1|NM_018155.2 NP_001098117.1|NP_060625.2 Q96CQ1 S2536_HUMAN solute carrier family 25 (pyrimidine nucleotide carrier ), member 36 145 response to estradiol stimulus|transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 ATAAAGACTCGGTTACAGCTT 0.308000 27 248 0 0 1 0 0 ZCCHC4 29063 broad.mit.edu 37 4 25366651 25366651 + Silent SNP C C A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr4:25366651C>A ENST00000302874.4 + 12 1293 c.1269C>A c.(1267-1269)atC>atA p.I423I NM_024936.2 NP_079212.2 Q9H5U6 ZCHC4_HUMAN zinc finger, CCHC domain containing 4 423 methyltransferase activity|nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1) 9 Breast(46;0.0503) CAGCCTGGATCCACTGTAGCA 0.368000 16 422 3.32936e-07 3.52799e-07 1 1 0 ZNF563 147837 broad.mit.edu 37 19 12429722 12429722 + Missense_Mutation SNP T T C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:12429722T>C ENST00000293725.5 - 4 1322 c.1117A>G c.(1117-1119)Acg>Gcg p.T373A NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TGAGATAACGTTTTCCCACAC 0.413000 6 658 0 0 1 0 0 LPPR4 0 broad.mit.edu 37 1 99771763 99771763 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:99771763C>T ENST00000370185.3 + 7 1986 c.1489C>T c.(1489-1491)Cct>Tct p.P497S LPPR4_ENST00000457765.1_Missense_Mutation_p.P439S|LPPR4_ENST00000370184.1_Missense_Mutation_p.P339S NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 497 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CCACCATGGTCCTGGCAATCA 0.562000 13 624 0 0 1 0 0 ROBO3 64221 broad.mit.edu 37 11 124740169 124740169 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr11:124740169G>A ENST00000397801.1 + 5 1067 c.875G>A c.(874-876)cGc>cAc p.R292H ROBO3_ENST00000538940.1_Missense_Mutation_p.R270H NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 292 Ig-like C2-type 3. axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) CTACGCTGGCGCAAGGAGGAT 0.577000 35 94 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80408515 80408515 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:80408515C>T ENST00000265080.4 + 14 1992 c.1925C>T c.(1924-1926)gCc>gTc p.A642V NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 642 N-terminal Ras-GEF. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) ATCCGTTATGCCAGCGTGGAG 0.483000 6 987 0 0 1 0 0 DMWD 1762 broad.mit.edu 37 19 46289829 46289829 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:46289829G>A ENST00000270223.6 - 3 970 c.925C>T c.(925-927)Cgc>Tgc p.R309C DMWD_ENST00000377735.3_Missense_Mutation_p.R309C NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 309 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) TGGAAGACGCGCAGGCAGCCA 0.667000 6 161 0 0 1 0 0 KLKB1 3818 broad.mit.edu 37 4 187172778 187172778 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr4:187172778C>T ENST00000264690.6 + 9 1193 c.1006C>T c.(1006-1008)Ctc>Ttc p.L336F KLKB1_ENST00000513864.1_Missense_Mutation_p.L336F NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 336 Apple 4. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) TTATTCTTTACTCCCAGAAGA 0.368000 41 374 0 0 1 0 0 LOXL3 84695 broad.mit.edu 37 2 74763164 74763164 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:74763164C>T ENST00000264094.3 - 7 1278 c.1207G>A c.(1207-1209)Ggg>Agg p.G403R LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.G403R|LOXL3_ENST00000393937.2_Missense_Mutation_p.G258R|LOXL3_ENST00000409986.1_Missense_Mutation_p.G258R NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 403 SRCR 3. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 CACCGGACCCCGGCATCCTGG 0.562000 11 381 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44932185 44932185 + Nonsense_Mutation SNP G G T rs56944783 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr3:44932185G>T ENST00000296125.4 + 4 459 c.391G>T c.(391-393)Gaa>Taa p.E131* NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 131 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) TAAGTCTGAAGAAAACATCCT 0.493000 5 248 0.000602214 0.000613732 1 1 0 PRG4 10216 broad.mit.edu 37 1 186276229 186276229 + Missense_Mutation SNP A A G TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:186276229A>G ENST00000445192.2 + 7 1423 c.1378A>G c.(1378-1380)Aca>Gca p.T460A PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 460 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T460A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAGGAGCCTACACCCACCAC 0.657000 12 488 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113166756 113166756 + Nonsense_Mutation SNP T T A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:113166756T>A ENST00000401783.2 - 39 9853 c.9517A>T c.(9517-9519)Aga>Tga p.R3173* SVEP1_ENST00000297826.5_Nonsense_Mutation_p.R1099*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.R3150* NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3173 Sushi 29. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CAGGAGATTCTCTCAGGGAAC 0.423000 8 1212 0 0 1 0 0 PSMG3 84262 broad.mit.edu 37 7 1607453 1607453 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:1607453C>T ENST00000288607.2 - 2 903 c.250G>A c.(250-252)Gcg>Acg p.A84T PSMG3_ENST00000252329.3_Missense_Mutation_p.A84T|PSMG3_ENST00000404674.3_Missense_Mutation_p.A84T NM_032302.3 NP_115678.1 Q9BT73 PSMG3_HUMAN proteasome (prosome, macropain) assembly chaperone 3 84 lung(2) 2 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15) GACACAAACGCTACCAGGTTC 0.498000 44 380 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57597244 57597244 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr12:57597244C>T ENST00000243077.3 + 70 11357 c.10891C>T c.(10891-10893)Cgc>Tgc p.R3631C NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3631 LDL-receptor class A 28. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCTGCGCTGGCGCTGTGACGC 0.687000 4 59 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57588845 57588845 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr12:57588845G>A ENST00000243077.3 + 51 8735 c.8269G>A c.(8269-8271)Gat>Aat p.D2757N NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2757 LDL-receptor class A 16. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGACGGCAGCGATGACTGTGG 0.612000 19 626 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178552067 178552067 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:178552067G>A ENST00000251582.7 - 19 2966 c.2865C>T c.(2863-2865)caC>caT p.H955H NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 955 TSP type-1 3. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) AGTGCTTGGCGTGCACGGAGC 0.692000 8 708 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109691963 109691963 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:109691963C>T ENST00000277225.5 + 3 6059 c.5770C>T c.(5770-5772)Cgt>Tgt p.R1924C ZNF462_ENST00000457913.1_Missense_Mutation_p.R1924C|ZNF462_ENST00000441147.2_Missense_Mutation_p.R769C|ZNF462_ENST00000497489.1_3'UTR Q96JM2 ZN462_HUMAN zinc finger protein 462 1924 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 GCGTGCCAAACGTCAGGAGAG 0.453000 12 338 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151130916 151130916 + Missense_Mutation SNP C C T rs75100154 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chrX:151130916C>T ENST00000370325.1 - 4 595 c.542G>A c.(541-543)gGc>gAc p.G181D GABRE_ENST00000370328.3_Missense_Mutation_p.G181D|GABRE_ENST00000393914.3_Missense_Mutation_p.A16T P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 181 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) CAACACCTTGCCATCCTTGTA 0.478000 5 142 0 0 1 0 0 PDPN 10630 broad.mit.edu 37 1 13910573 13910573 + Silent SNP G G T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:13910573G>T ENST00000294489.6 + 1 614 c.273G>T c.(271-273)tcG>tcT p.S91S PDPN_ENST00000376057.4_Silent_p.S91S Q86YL7 PDPN_HUMAN podoplanin 15 cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane p.S91S(1) endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) GAAGCGCGTCGCTCTGGGTCC 0.612000 8 133 0.0381472 0.0382498 1 1 0 KCNH5 27133 broad.mit.edu 37 14 63246448 63246448 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr14:63246448G>A ENST00000322893.7 - 10 2285 c.2017C>T c.(2017-2019)Cgg>Tgg p.R673W KCNH5_ENST00000394968.1_Missense_Mutation_p.R615W|KCNH5_ENST00000420622.2_Intron NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 673 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity p.R673W(2) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GAACATACCCGTTTCCTCAGA 0.398000 8 622 0 0 1 0 0 EDA2R 60401 broad.mit.edu 37 X 65824331 65824331 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chrX:65824331C>T ENST00000374719.3 - 4 340 c.284G>A c.(283-285)cGc>cAc p.R95H EDA2R_ENST00000450752.1_Missense_Mutation_p.R95H|EDA2R_ENST00000456230.2_Missense_Mutation_p.R95H|EDA2R_ENST00000253392.5_Missense_Mutation_p.R95H|EDA2R_ENST00000396050.1_Missense_Mutation_p.R95H|EDA2R_ENST00000451436.2_Intron NM_021783.3 NP_068555.1 Q9HAV5 TNR27_HUMAN ectodysplasin A2 receptor 95 cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane tumor necrosis factor receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 GCCTCCAATGCGTGTCTTTCG 0.522000 172 17 0 0 1 0 0 IRF8 3394 broad.mit.edu 37 16 85952250 85952250 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr16:85952250G>A ENST00000268638.5 + 7 1251 c.829G>A c.(829-831)Ggg>Agg p.G277R IRF8_ENST00000562492.1_Missense_Mutation_p.G73R NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 277 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) CCTGGAGCGCGGGGTGCTGCT 0.721000 9 89 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101606007 101606007 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr15:101606007G>A ENST00000284395.5 + 33 5756 c.5356G>A c.(5356-5358)Gtg>Atg p.V1786M LRRK1_ENST00000532145.1_3'UTR|LRRK1_ENST00000388948.3_Missense_Mutation_p.V1789M|RP11-505E24.2_ENST00000559857.1_RNA Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1789 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.V1789M(1)|p.V1801M(1) breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CATGTTTCCCGTGCGGCCCTT 0.632000 4 115 0 0 1 0 0 MLANA 2315 broad.mit.edu 37 9 5906999 5906999 + Splice_Site SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:5906999G>A ENST00000381477.3 + 4 448 c.e4+1 KIAA2026_ENST00000443149.2_Intron|MLANA_ENST00000381476.1_Splice_Site|MLANA_ENST00000381471.1_Splice_Site|MLANA_ENST00000490518.1_3'UTR NM_005511.1 NP_005502.1 Q16655 MAR1_HUMAN melan-A endoplasmic reticulum membrane|integral to plasma membrane|melanosome|trans-Golgi network protein binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1) 8 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103) TGAACCTGTGGTAGGTTAAGA 0.378000 5 321 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767077 77767077 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr8:77767077C>T ENST00000521891.2 + 10 8368 c.7920C>T c.(7918-7920)cgC>cgT p.R2640R ZFHX4_ENST00000518282.1_Silent_p.R2614R|ZFHX4_ENST00000455469.2_Silent_p.R2595R|ZFHX4_ENST00000050961.6_Silent_p.R2595R NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2595 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) ATATTGCCCGCGAAGTCGGGC 0.517000 HNSCC(33;0.089) 6 254 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628278 29628278 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr20:29628278G>A ENST00000278882.3 + 6 660 c.280G>A c.(280-282)Gca>Aca p.A94T FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGCAATGAAGCAGGGGACAT 0.373000 16 501 0 0 1 0 0 SERPINI1 5274 broad.mit.edu 37 3 167525063 167525063 + Missense_Mutation SNP G G T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr3:167525063G>T ENST00000295777.5 + 6 1344 c.913G>T c.(913-915)Gat>Tat p.D305Y SERPINI1_ENST00000446050.2_Missense_Mutation_p.D305Y|SERPINI1_ENST00000488374.1_3'UTR NM_005025.4 NP_005016.1 Q99574 NEUS_HUMAN serpin peptidase inhibitor, clade I (neuroserpin), member 1 305 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 TGATTTAAAAGATGTTTTGAA 0.323000 16 356 1.87028e-06 1.97066e-06 1 1 0 FAM129A 116496 broad.mit.edu 37 1 184772798 184772798 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:184772798C>T ENST00000367511.3 - 12 1668 c.1475G>A c.(1474-1476)cGa>cAa p.R492Q FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 492 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane p.R492Q(1) autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 TATCTTCTTTCGGATGGTGCT 0.388000 45 448 0 0 1 0 0 CYP2C18 1562 broad.mit.edu 37 10 96466679 96466679 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr10:96466679C>T ENST00000285979.6 + 5 980 c.781C>T c.(781-783)Cgg>Tgg p.R261W CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Intron NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) GAACAGTGCTCGGGACTTTAT 0.328000 5 373 0 0 1 0 0 LILRA2 0 broad.mit.edu 37 19 55086976 55086976 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:55086976C>T ENST00000251377.3 + 6 1042 c.909C>T c.(907-909)tcC>tcT p.S303S LILRA2_ENST00000391737.1_Silent_p.S291S|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Silent_p.S303S|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Silent_p.S303S|LILRB1_ENST00000396321.2_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 p.S303S(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) ACCTCTCCTCCGAGTGGTCGG 0.672000 7 305 0 0 1 0 0 TP73 7161 broad.mit.edu 37 1 3638720 3638720 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:3638720G>A ENST00000378295.4 + 5 720 c.565G>A c.(565-567)Gac>Aac p.D189N TP73_ENST00000378280.1_Missense_Mutation_p.D140N|TP73_ENST00000378285.1_Missense_Mutation_p.D140N|TP73_ENST00000357733.3_Missense_Mutation_p.D189N|TP73_ENST00000604074.1_Missense_Mutation_p.D189N|TP73_ENST00000346387.4_Missense_Mutation_p.D189N|TP73_ENST00000378290.4_Missense_Mutation_p.D118N|TP73_ENST00000354437.4_Missense_Mutation_p.D189N|TP73_ENST00000603362.1_Missense_Mutation_p.D189N|TP73_ENST00000378288.4_Missense_Mutation_p.D140N|TP73_ENST00000604479.1_Missense_Mutation_p.D189N NM_001204185.1|NM_005427.3 NP_001191114.1|NP_005418.1 O15350 P73_HUMAN tumor protein p73 189 DNA-binding (Potential). cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) GCACGTGACCGACGTCGTGAA 0.647000 5 155 0 0 1 0 0 JAG1 182 broad.mit.edu 37 20 10629323 10629323 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr20:10629323G>A ENST00000254958.5 - 12 1958 c.1443C>T c.(1441-1443)ggC>ggT p.G481G JAG1_ENST00000423891.2_Silent_p.G322G NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 481 EGF-like 7; calcium-binding (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 CACAGTGATCGCCTGCATAGC 0.463000 Alagille Syndrome 36 330 0 0 1 0 0 C20orf166 128826 broad.mit.edu 37 20 61162268 61162268 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr20:61162268G>A ENST00000370527.3 + 3 860 c.81G>A c.(79-81)gtG>gtA p.V27V C20orf166_ENST00000370524.2_Intron|C20orf166_ENST00000370523.1_Intron NM_178463.3 NP_848558.1 Q9H1L0 CT166_HUMAN chromosome 20 open reading frame 166 27 V -> A (in dbSNP:rs6062251). endometrium(1)|kidney(1)|lung(2) 4 Breast(26;1.04e-08) BRCA - Breast invasive adenocarcinoma(19;7.17e-06) CCCAGCAGGTGGCGCGGGGAG 0.677000 15 90 0 0 1 0 0 SCG2 7857 broad.mit.edu 37 2 224463590 224463590 + Missense_Mutation SNP C C A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:224463590C>A ENST00000305409.2 - 2 643 c.411G>T c.(409-411)ttG>ttT p.L137F NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 137 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) TTTCTGAATTCAAGGCATAGG 0.418000 283 437 2.16399e-160 2.38102e-160 1 1 0 SBNO1 55206 broad.mit.edu 37 12 123780522 123780522 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr12:123780522G>A ENST00000420886.2 - 31 4114 c.4115C>T c.(4114-4116)gCg>gTg p.A1372V SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1372 ATP binding|DNA binding|hydrolase activity p.A1371V(2) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CTGTTGGACCGCAAGCTGTTG 0.433000 7 964 0 0 1 0 0 SNPH 9751 broad.mit.edu 37 20 1277814 1277814 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr20:1277814C>T ENST00000381867.1 + 5 850 c.208C>T c.(208-210)Cgg>Tgg p.R70W SNPH_ENST00000381873.3_Missense_Mutation_p.R26W O15079 SNPH_HUMAN syntaphilin 26 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 TGTGAGCGTGCGGGATGCCTA 0.637000 28 160 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42052633 42052633 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr15:42052633G>A ENST00000219905.7 + 20 7485 c.7304G>A c.(7303-7305)cGg>cAg p.R2435Q MGA_ENST00000570161.1_Missense_Mutation_p.R2435Q|MGA_ENST00000545763.1_Missense_Mutation_p.R2226Q|MGA_ENST00000389936.4_Missense_Mutation_p.R2396Q|MGA_ENST00000566586.1_Missense_Mutation_p.R2226Q NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 2396 Helix-loop-helix motif. MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity p.R2484Q(4) NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GAGCGGCGGCGGCGTGGTGAA 0.438000 18 318 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101194865 101194865 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:101194865C>T ENST00000294728.2 + 5 1232 c.1131C>T c.(1129-1131)aaC>aaT p.N377N VCAM1_ENST00000370119.4_Silent_p.N315N|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 377 Ig-like C2-type 4. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) GTTTTGAGAACGAACACTCTT 0.493000 41 447 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57484420 57484420 + Missense_Mutation SNP C C T rs11554273 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr20:57484420C>T ENST00000371100.4 + 8 3082 c.2530C>T c.(2530-2532)Cgt>Tgt p.R844C GNAS_ENST00000371085.3_Missense_Mutation_p.R201C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000464624.2_3'UTR NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 201 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.R201C(228)|p.R844C(9)|p.R201S(5) adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCTTCGCTGCCGTGTCCTGAC 0.428000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 413 15 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47373562 47373562 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr18:47373562C>T ENST00000285039.7 - 33 4712 c.4413G>A c.(4411-4413)gaG>gaA p.E1471E SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.E586E|MYO5B_ENST00000592688.1_Silent_p.E41E NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1471 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CTTTGTGGTACTCCAGCATGC 0.617000 6 246 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168222582 168222582 + Splice_Site SNP G G A rs143425660 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:168222582G>A ENST00000519560.1 - 10 1356 c.935_splice c.e10-1 p.R313_splice SLIT3_ENST00000332966.8_Splice_Site_p.R313_splice|SLIT3_ENST00000404867.3_Splice_Site_p.R313_splice NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 313 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGTTCTAGGCGTCTGGGAAAC 0.512000 5 403 0 0 1 0 0 LRIG2 9860 broad.mit.edu 37 1 113637053 113637053 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:113637053G>A ENST00000361127.4 + 5 806 c.608G>A c.(607-609)cGa>cAa p.R203Q NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 203 cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) AACCGTAACCGAATGAGCATG 0.358000 6 463 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133953738 133953738 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr8:133953738C>T ENST00000220616.4 + 26 5224 c.5184C>T c.(5182-5184)tgC>tgT p.C1728C TG_ENST00000377869.1_Silent_p.C1671C|TG_ENST00000542445.1_Intron NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1728 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TTCTTGCATGCGACCGTGATC 0.522000 10 358 0 0 1 0 0 SPATA13 221178 broad.mit.edu 37 13 24823914 24823914 + Silent SNP C C T rs139541678 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr13:24823914C>T ENST00000424834.2 + 5 2426 c.1953C>T c.(1951-1953)tcC>tcT p.S651S SPATA13_ENST00000382108.3_Silent_p.S651S|SPATA13_ENST00000382095.4_Silent_p.S26S Q96N96 SPT13_HUMAN spermatogenesis associated 13 26 C-terminal tail. cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) GCCCCATTTCCGTGATAGGTG 0.587000 5 292 0 0 1 0 0 PFKP 5214 broad.mit.edu 37 10 3178679 3178679 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr10:3178679C>T ENST00000381075.2 + 24 2463 c.2239C>T c.(2239-2241)Cgg>Tgg p.R747W PFKP_ENST00000381072.1_Missense_Mutation_p.R173W|PFKP_ENST00000381125.4_Missense_Mutation_p.R755W NM_001242339.1 NP_001229268.1 Q01813 K6PP_HUMAN phosphofructokinase, platelet 755 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) GCTCAAGCTACGGCCCCTCAT 0.592000 7 62 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90499930 90499930 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:90499930G>A ENST00000325643.5 + 4 594 c.528G>A c.(526-528)ccG>ccA p.P176P NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CCCACCAGCCGCATGGGAAAT 0.637000 11 313 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144889134 144889134 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr8:144889134G>A ENST00000356994.2 - 17 2234 c.2228C>T c.(2227-2229)gCg>gTg p.A743V SCRIB_ENST00000320476.3_Missense_Mutation_p.A743V|SCRIB_ENST00000377533.3_Missense_Mutation_p.A662V NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 743 Interaction with ARHGEF7.|PDZ 1.|Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CTTGCCGCCCGCAATGCTGAT 0.642000 36 61 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3263663 3263663 + Missense_Mutation SNP A A G TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr8:3263663A>G ENST00000602557.1 - 16 2710 c.2155T>C c.(2155-2157)Tcg>Ccg p.S719P CSMD1_ENST00000542608.1_Missense_Mutation_p.S718P|CSMD1_ENST00000400186.3_Missense_Mutation_p.S719P|CSMD1_ENST00000537824.1_Missense_Mutation_p.S718P|CSMD1_ENST00000539096.1_Missense_Mutation_p.S718P|CSMD1_ENST00000520002.1_Missense_Mutation_p.S719P|CSMD1_ENST00000602723.1_Missense_Mutation_p.S719P Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 719 Sushi 4. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AAAGAAACCGAGCTCCCGAGT 0.493000 58 80 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134038048 134038048 + Missense_Mutation SNP C C A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr11:134038048C>A ENST00000534548.2 - 27 3480 c.3416G>T c.(3415-3417)aGt>aTt p.S1139I NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1139 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GAGTAACTCACTGGCGTCCAG 0.493000 11 176 5.50884e-06 5.75573e-06 1 1 0 ADRA2C 152 broad.mit.edu 37 4 3769385 3769385 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr4:3769385G>A ENST00000330055.5 + 1 1261 c.1052G>A c.(1051-1053)cGc>cAc p.R351H ADRA2C_ENST00000509482.1_Intron NM_000683.3 NP_000674.2 P18825 ADA2C_HUMAN adrenoceptor alpha 2C 351 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion endosome|integral to plasma membrane alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 8 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) GCCAGCTCGCGCTCCGTCGAG 0.786000 3 20 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101375374 101375374 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr11:101375374C>T ENST00000344327.3 - 2 750 c.326G>A c.(325-327)gGt>gAt p.G109D TRPC6_ENST00000532133.1_Missense_Mutation_p.G109D|TRPC6_ENST00000360497.4_Missense_Mutation_p.G109D|TRPC6_ENST00000348423.4_Missense_Mutation_p.G109D NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 109 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TGGGATGTTACCATATTCAGC 0.483000 280 225 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12542412 12542412 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:12542412G>A ENST00000301547.5 - 4 771 c.574C>T c.(574-576)Cgt>Tgt p.R192C CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 192 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 CCATCTCCACGCTGCACTGCC 0.418000 14 454 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170044660 170044660 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:170044660C>T ENST00000263816.3 - 49 9433 c.9148G>A c.(9148-9150)Gtc>Atc p.V3050I NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3050 LDL-receptor class A 24. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.V3050I(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCATCACAGACGAAGGTTTTA 0.512000 14 474 0 0 1 0 0 IGHV1OR15-9 0 broad.mit.edu 37 15 20169960 20169960 + RNA SNP G G A rs150674714 by1000genomes TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr15:20169960G>A ENST00000338912.5 - 0 311 CAGATCTCAGGCTGCTTAGCT 0.527000 6 846 0 0 1 0 0 TAAR6 319100 broad.mit.edu 37 6 132891982 132891982 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr6:132891982C>T ENST00000275198.1 + 1 522 c.522C>T c.(520-522)gaC>gaT p.D174D NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 174 plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) GTGTCTATGACGATGGGCTGG 0.463000 431 295 0 0 1 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724315 38724315 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr14:38724315G>A ENST00000342213.2 - 1 1259 c.913C>T c.(913-915)Cgc>Tgc p.R305C NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 305 integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) GCCGGCGGGCGCCTGGTGGGC 0.652000 239 232 0 0 1 0 0 RDM1 201299 broad.mit.edu 37 17 34247233 34247233 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr17:34247233G>A ENST00000394529.3 - 5 1128 c.642C>T c.(640-642)atC>atT p.I214I RDM1_ENST00000431884.2_Silent_p.I204I|RDM1_ENST00000293273.6_Silent_p.I237I|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000419453.2_Silent_p.I181I NM_001163130.1 NP_001156602.1 Q8NG50 RDM1_HUMAN RAD52 motif 1 237 DNA recombination|DNA repair Cajal body|cytoplasm|nucleolus|PML body DNA binding|nucleotide binding|RNA binding breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1) 9 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TGACACCTACGATGTCTTCAC 0.368000 Other identified genes with known or suspected DNA repair function 9 310 0 0 1 0 0 ESR1 2099 broad.mit.edu 37 6 152420041 152420041 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr6:152420041G>A ENST00000440973.1 + 10 2098 c.1728G>A c.(1726-1728)tcG>tcA p.S576S ESR1_ENST00000443427.1_Silent_p.S576S|ESR1_ENST00000544394.1_Intron|ESR1_ENST00000406599.1_Silent_p.S315S|ESR1_ENST00000338799.5_Silent_p.S576S|ESR1_ENST00000456483.2_Silent_p.S464S|ESR1_ENST00000206249.3_Silent_p.S576S NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 576 Interaction with AKAP13. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) CTACTTCATCGCATTCCTTGC 0.607000 27 139 0 0 1 0 0 GPR128 84873 broad.mit.edu 37 3 100362231 100362231 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr3:100362231C>T ENST00000273352.3 + 7 1088 c.820C>T c.(820-822)Cgc>Tgc p.R274C GPR128_ENST00000475887.1_Intron NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 274 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 TTCAAATGTTCGCTTCTCTGT 0.393000 123 420 0 0 1 0 0 RALGPS1 9649 broad.mit.edu 37 9 129728136 129728136 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:129728136C>T ENST00000259351.5 + 3 338 c.71C>T c.(70-72)tCg>tTg p.S24L RALGPS1_ENST00000394022.3_Missense_Mutation_p.S24L|RALGPS1_ENST00000373434.1_Missense_Mutation_p.S24L|RALGPS1_ENST00000394011.3_Missense_Mutation_p.S24L|RALGPS1_ENST00000480993.1_3'UTR|RALGPS1_ENST00000424082.2_Missense_Mutation_p.S24L|RALGPS1_ENST00000373436.1_Missense_Mutation_p.S24L NM_014636.2 NP_055451.1 Q5JS13 RGPS1_HUMAN Ral GEF with PH domain and SH3 binding motif 1 24 Poly-Ser. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 AGCAGCAGCTCGGACTCTCTG 0.532000 5 371 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414373 20414373 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:20414373G>A ENST00000380338.4 - 5 757 c.471C>T c.(469-471)agC>agT p.S157S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 157 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S157S(5) 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) tgctgctgctgctactgctgc 0.527000 T MLL ALL 5 202 0 0 1 0 0 KCTD10 83892 broad.mit.edu 37 12 109893952 109893952 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr12:109893952C>T ENST00000228495.6 - 6 975 c.694G>A c.(694-696)Gtc>Atc p.V232I KCTD10_ENST00000540089.1_Missense_Mutation_p.V51I|KCTD10_ENST00000424763.2_Missense_Mutation_p.V51I|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540411.1_Missense_Mutation_p.V206I NM_031954.3 NP_114160.1 Q9H3F6 BACD3_HUMAN potassium channel tetramerization domain containing 10 232 proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 10 GTGGCATAGACGATGGAGGTA 0.468000 5 239 0 0 1 0 0 ZNF554 115196 broad.mit.edu 37 19 2834138 2834138 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:2834138G>A ENST00000317243.5 + 5 1103 c.905G>A c.(904-906)gGg>gAg p.G302E ZNF554_ENST00000591265.1_3'UTR NM_001102651.1 NP_001096121.1 Q86TJ5 ZN554_HUMAN zinc finger protein 554 302 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTGGAAAATGGGCAGTCATTG 0.478000 9 427 0 0 1 0 0 PPEF2 5470 broad.mit.edu 37 4 76787474 76787474 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr4:76787474C>T ENST00000286719.7 - 15 2144 c.1788G>A c.(1786-1788)gcG>gcA p.A596A NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 596 EF-hand 1. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CAGACTCCACCGCTGCTGCCC 0.522000 8 232 0 0 1 0 0 JMJD7-PLA2G4B 0 broad.mit.edu 37 15 42140039 42140039 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr15:42140039G>A ENST00000382448.4 + 25 3029 c.3020G>A c.(3019-3021)cGg>cAg p.R1007Q PLA2G4B_ENST00000452633.1_Missense_Mutation_p.R776Q|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R776Q|JMJD7-PLA2G4B_ENST00000342159.4_3'UTR NM_005090.3 NP_005081.1 P0C869 PA24B_HUMAN 776 arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 CAGCGGAGGCGGCAGCGCAGG 0.627000 14 95 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 15 465 0 0 1 0 0 DPY19L2P1 0 broad.mit.edu 37 7 35144338 35144338 + RNA SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:35144338G>A ENST00000436258.1 - 0 1728 AATGGCAAGGGCAGTAAACGC 0.348000 150 180 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315575 30315575 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr10:30315575G>A ENST00000375377.1 - 3 3603 c.3502C>T c.(3502-3504)Cgg>Tgg p.R1168W NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 1168 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TGAGGAGCCCGCCTGGCACTG 0.602000 22 236 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681963 100681963 + Silent SNP T T C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:100681963T>C ENST00000306151.4 + 3 7330 c.7266T>C c.(7264-7266)gtT>gtC p.V2422V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2422 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) CAACTCCTGTTGACACCAGCA 0.512000 12 2294 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152476229 152476229 + Silent SNP G G A rs144673752 by1000genomes TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:152476229G>A ENST00000397345.3 - 73 10810 c.10608C>T c.(10606-10608)ggC>ggT p.G3536G NEB_ENST00000172853.10_Silent_p.G3293G|NEB_ENST00000604864.1_Silent_p.G3536G|NEB_ENST00000603639.1_Silent_p.G3536G|NEB_ENST00000427231.2_Silent_p.G3536G|NEB_ENST00000409198.1_Silent_p.G3293G NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 3536 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CTGCTCGGGCGCCAATGTGGT 0.438000 7 257 0 0 1 0 0 PCDHGA1 0 broad.mit.edu 37 5 140712187 140712187 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:140712187G>A ENST00000517417.1 + 1 1936 c.1936G>A c.(1936-1938)Gtc>Atc p.V646I PCDHGA1_ENST00000378105.3_Missense_Mutation_p.V646I NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGGTGGCCGTCCAGGACCA 0.706000 8 291 0 0 1 0 0 USP29 0 broad.mit.edu 37 19 57642144 57642144 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:57642144G>A ENST00000254181.4 + 4 2555 c.2101G>A c.(2101-2103)Gta>Ata p.V701I USP29_ENST00000598197.1_Missense_Mutation_p.V701I NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 701 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAATACATTCGTAGAGTTCAA 0.438000 7 221 0 0 1 0 0 VARS 7407 broad.mit.edu 37 6 31749280 31749280 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr6:31749280G>A ENST00000375663.3 - 21 2962 c.2522C>T c.(2521-2523)aCg>aTg p.T841M VARS_ENST00000482996.1_5'UTR NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 841 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) CAGCCTGCCCGTGAGCTTCAG 0.642000 5 87 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769889 31769889 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:31769889G>A ENST00000240587.4 - 2 1137 c.810C>T c.(808-810)gaC>gaT p.D270D NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 270 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) CCTTCTGGGCGTCTTCCTTCC 0.512000 25 556 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58247457 58247457 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr15:58247457C>T ENST00000249750.4 - 13 2262 c.1495G>A c.(1495-1497)Ggc>Agc p.G499S ALDH1A2_ENST00000558231.1_Missense_Mutation_p.G470S|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.G478S|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.G461S|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.G403S NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 499 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TCCCGCAAGCCAAATTCTCCC 0.542000 9 372 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856761 53856761 + Missense_Mutation SNP T T C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:53856761T>C ENST00000458035.1 + 4 2950 c.2833T>C c.(2833-2835)Tgt>Cgt p.C945R ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 945 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C945R(1) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ACCTTACAAGTGTAATGAATG 0.348000 7 139 0 0 1 0 0 RP11-480I12.7 0 broad.mit.edu 37 1 202842822 202842822 + RNA SNP C C A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:202842822C>A ENST00000456105.2 + 0 774 NR_002929.2 ACACAGCCATCCAGGCTGTGC 0.572000 72 57 7.2426e-40 7.87606e-40 1 1 0 KPRP 448834 broad.mit.edu 37 1 152733041 152733041 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:152733041G>A ENST00000368773.1 + 2 1035 c.977G>A c.(976-978)cGa>cAa p.R326Q KPRP_ENST00000606109.1_Missense_Mutation_p.R326Q NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 326 Pro-rich. cytoplasm p.R326Q(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) CCCAAGTGCCGAATCGAGATT 0.617000 8 231 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11047546 11047546 + RNA SNP C C A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr21:11047546C>A ENST00000470054.1 - 0 708 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) GTATGATACCCTTTGTCACAC 0.338000 59 1497 1.30998e-17 1.4163e-17 1 1 0 P2RX7 5027 broad.mit.edu 37 12 121600237 121600237 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr12:121600237C>T ENST00000546057.1 + 5 590 c.447C>T c.(445-447)acC>acT p.T149T P2RX7_ENST00000328963.5_Intron|P2RX7_ENST00000377162.2_Silent_p.T149T|P2RX7_ENST00000535250.1_Silent_p.T59T|P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000443520.3_3'UTR NM_002562.5 NP_002553.3 A8K2Z0 A8K2Z0_HUMAN purinergic receptor P2X, ligand-gated ion channel, 7 149 integral to membrane ATP binding|ion channel activity|receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GAATTCAGACCGGAAGGTGTG 0.552000 9 179 0 0 1 0 0 DCK 1633 broad.mit.edu 37 4 71895154 71895154 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr4:71895154C>T ENST00000504952.1 + 8 1137 c.939C>T c.(937-939)ttC>ttT p.F313F DCK_ENST00000286648.5_3'UTR|DCK_ENST00000504730.1_3'UTR P27707 DCK_HUMAN deoxycytidine kinase 0 purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol|nucleus ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1) 9 Lung(101;0.235) Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943) TGTGTATCTTCGTAACTTCAT 0.313000 6 213 0 0 1 0 0 HNRNPH1 3187 broad.mit.edu 37 5 179044053 179044053 + Splice_Site SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:179044053G>A ENST00000356731.5 - 9 2651 c.1117_splice c.e9+1 p.Y372_splice HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372_splice P31943 HNRH1_HUMAN heterogeneous nuclear ribonucleoprotein H1 (H) 372 2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats. regulation of RNA splicing actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|poly(U) RNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1) 14 TTTGGCTACCGTAAGCACCAC 0.373000 9 550 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64453315 64453315 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr11:64453315G>A ENST00000265459.6 - 6 1416 c.955C>T c.(955-957)Cgc>Tgc p.R319C NRXN2_ENST00000377551.1_Missense_Mutation_p.R319C|NRXN2_ENST00000409571.1_Missense_Mutation_p.R319C|NRXN2_ENST00000377559.3_Missense_Mutation_p.R295C NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 319 Laminin G-like 2. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 TGCAGGGTGCGGAAGGCCAGT 0.567000 8 323 0 0 1 0 0 ZMYND8 23613 broad.mit.edu 37 20 45920611 45920611 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr20:45920611C>T ENST00000311275.7 - 6 782 c.529G>A c.(529-531)Gtt>Att p.V177I ZMYND8_ENST00000360911.3_Missense_Mutation_p.V172I|ZMYND8_ENST00000396281.4_Missense_Mutation_p.V177I|ZMYND8_ENST00000352431.2_Missense_Mutation_p.V197I|ZMYND8_ENST00000446994.2_Missense_Mutation_p.V114I|ZMYND8_ENST00000372023.3_Missense_Mutation_p.V172I|ZMYND8_ENST00000540497.1_Missense_Mutation_p.V172I|ZMYND8_ENST00000355972.4_Missense_Mutation_p.V177I|ZMYND8_ENST00000461685.1_Missense_Mutation_p.V197I|ZMYND8_ENST00000262975.4_Missense_Mutation_p.V177I|ZMYND8_ENST00000536340.1_Missense_Mutation_p.V204I|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000458360.2_Missense_Mutation_p.V172I|ZMYND8_ENST00000471951.2_Missense_Mutation_p.V197I Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 177 Bromo. protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) TCCAATGGAACGGGCTTCTGG 0.433000 14 396 0 0 1 0 0 ALS2CR12 130540 broad.mit.edu 37 2 202216069 202216069 + Missense_Mutation SNP C C T rs142397497 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:202216069C>T ENST00000405148.2 - 2 502 c.59G>A c.(58-60)cGg>cAg p.R20Q ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.R20Q NM_139163.2 NP_631902.2 Q96Q35 AL2SB_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 20 regulation of GTPase activity protein binding p.R20Q(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2) 21 GATTAGCTTCCGTGGTCCCAA 0.557000 35 217 0 0 1 0 0 PCDHB16 0 broad.mit.edu 37 5 140563751 140563751 + Silent SNP G G A rs17844655 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:140563751G>A ENST00000361016.2 + 1 2772 c.1617G>A c.(1615-1617)ccG>ccA p.P539P NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 539 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGGCTCCCCGGCTTTGAGCA 0.682000 49 171 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6828153 6828153 + Nonsense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:6828153C>T ENST00000304076.2 + 10 1088 c.994C>T c.(994-996)Cga>Tga p.R332* VAV1_ENST00000602142.1_Nonsense_Mutation_p.R332*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.R277*|VAV1_ENST00000596764.1_Nonsense_Mutation_p.R300*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.R235* NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 332 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GCCTATGCAGCGAGTTCTCAA 0.557000 48 150 0 0 1 0 0 GPR12 0 broad.mit.edu 37 13 27333439 27333439 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr13:27333439C>T ENST00000405846.3 - 2 747 c.526G>A c.(526-528)Gtc>Atc p.V176I GPR12_ENST00000381436.2_Missense_Mutation_p.V176I NM_005288.3 NP_005279.1 P47775 GPR12_HUMAN G protein-coupled receptor 12 176 integral to plasma membrane endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) CAGCCCATGACGGGCAGCAGC 0.597000 50 82 0 0 1 0 0 ZNF454 285676 broad.mit.edu 37 5 178391963 178391963 + Silent SNP C C A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:178391963C>A ENST00000320129.3 + 5 861 c.558C>A c.(556-558)gtC>gtA p.V186V ZNF454_ENST00000519564.1_Silent_p.V186V NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V186V(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) GTGGAAAAGTCTTCTCTAAGA 0.343000 24 261 6.44725e-10 6.87093e-10 1 1 0 SPTBN1 0 broad.mit.edu 37 2 54753681 54753681 + Silent SNP G G C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:54753681G>C ENST00000356805.4 + 2 407 c.126G>C c.(124-126)cgG>cgC p.R42R AC092839.3_ENST00000433475.1_RNA NM_003128.2 NP_003119.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 42 Actin-binding. 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) TTTTTGAGCGGTCCCGCATCA 0.537000 55 214 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83128600 83128600 + Missense_Mutation SNP G G T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chrX:83128600G>T ENST00000329312.4 + 4 921 c.884G>T c.(883-885)aGc>aTc p.S295I NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 295 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 GCAAAGAAAAGCTCTGATGCT 0.308000 95 38 1.49228e-48 1.62755e-48 1 1 0 PGLYRP2 114770 broad.mit.edu 37 19 15587252 15587252 + Missense_Mutation SNP T T A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:15587252T>A ENST00000292609.4 - 2 358 c.229A>T c.(229-231)Aat>Tat p.N77Y PGLYRP2_ENST00000340880.4_Missense_Mutation_p.N77Y Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 77 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 TCTGTAGCATTGAGGCTCCAT 0.577000 6 154 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47879967 47879967 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr20:47879967G>A ENST00000396105.1 - 6 2451 c.2205C>T c.(2203-2205)acC>acT p.T735T ZNFX1_ENST00000371754.4_Silent_p.T735T|ZNFX1_ENST00000371752.1_Silent_p.T735T NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 735 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TGCACTCCAGGGTCTTGGCTC 0.498000 16 112 0 0 1 0 0 HTRA1 5654 broad.mit.edu 37 10 124273729 124273729 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr10:124273729G>A ENST00000368984.3 + 9 1425 c.1297G>A c.(1297-1299)Gtc>Atc p.V433I NM_002775.4 NP_002766.1 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 433 PDZ. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) GGAAAACGACGTCATAATCAG 0.493000 23 1062 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11758761 11758761 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:11758761C>T ENST00000381486.2 + 22 4060 c.3760C>T c.(3760-3762)Cgc>Tgc p.R1254C GREB1_ENST00000234142.5_Missense_Mutation_p.R1254C|GREB1_ENST00000396123.1_Missense_Mutation_p.R252C NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1254 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CAAGGCCTGCCGCCAGCCACC 0.672000 35 71 0 0 1 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617940 111617940 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:111617940C>T ENST00000374667.3 - 1 1299 c.271G>A c.(271-273)Gac>Aac p.D91N NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 91 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TTGCGGGTGTCGCCAGCGTCG 0.652000 167 186 0 0 1 0 0 CDHR1 92211 broad.mit.edu 37 10 85973848 85973848 + Missense_Mutation SNP G G A rs144225118 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr10:85973848G>A ENST00000372117.3 + 17 2154 c.2051G>A c.(2050-2052)cGg>cAg p.R684Q CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.R388Q NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 684 Cadherin 6. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 ACCCTCTCCCGGAGCCCCATG 0.587000 8 528 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9036163 9036163 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr3:9036163G>A ENST00000383836.3 - 19 2699 c.2272C>T c.(2272-2274)Cgg>Tgg p.R758W SRGAP3_ENST00000360413.3_Missense_Mutation_p.R734W NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 758 SH3. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CGCGGGGACCGCCCCATGTAG 0.602000 T RAF1 pilocytic astrocytoma 70 207 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9886894 9886894 + Missense_Mutation SNP A A G rs146821851 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr18:9886894A>G ENST00000306084.6 + 2 617 c.418A>G c.(418-420)Aaa>Gaa p.K140E TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 140 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity p.K140E(2)|p.K73E(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAAAAGCCATCCA 0.547000 7 585 0 0 1 0 0 SLC1A5 6510 broad.mit.edu 37 19 47290737 47290737 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:47290737G>A ENST00000542575.2 - 1 1114 c.486C>T c.(484-486)atC>atT p.I162I NM_005628.2 NP_005619.1 Q15758 AAAT_HUMAN solute carrier family 1 (neutral amino acid transporter), member 5 162 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) CGGAGGCGTTGATGGCGGCGG 0.701000 8 24 0 0 1 0 0 SSTR3 0 broad.mit.edu 37 22 37603719 37603719 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr22:37603719C>T ENST00000328544.3 - 2 657 c.124G>A c.(124-126)Gtc>Atc p.V42I SSTR3_ENST00000402501.1_Missense_Mutation_p.V42I NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 42 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 ACGCCACTGACGGCCAGCCCT 0.672000 23 255 0 0 1 0 0 TGM5 9333 broad.mit.edu 37 15 43527833 43527833 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr15:43527833C>T ENST00000220420.5 - 10 1555 c.1548G>A c.(1546-1548)ccG>ccA p.P516P TGM5_ENST00000349114.4_Silent_p.P434P NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 516 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) CCATGTTGGGCGGGTCGAGCA 0.567000 22 104 0 0 1 0 0 COL25A1 84570 broad.mit.edu 37 4 110221776 110221776 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr4:110221776G>A ENST00000399132.1 - 3 860 c.330C>T c.(328-330)atC>atT p.I110I COL25A1_ENST00000399126.1_Silent_p.I110I|COL25A1_ENST00000399127.1_Silent_p.I110I NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 110 collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CTTCTCTTGCGATTCTTATTT 0.388000 12 249 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29609320 29609320 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:29609320C>T ENST00000323874.8 + 12 2111 c.2001C>T c.(1999-2001)gcC>gcT p.A667A PTPRU_ENST00000345512.3_Silent_p.A667A|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Silent_p.A667A|PTPRU_ENST00000356870.3_Silent_p.A667A|PTPRU_ENST00000460170.2_Silent_p.A667A|PTPRU_ENST00000428026.2_Silent_p.A667A Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 667 Fibronectin type-III 4. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) ACTTCGGGGCCGAACTGGCGG 0.657000 5 302 0 0 1 0 0 CEACAM8 1088 broad.mit.edu 37 19 43098947 43098947 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:43098947G>A ENST00000244336.5 - 1 135 c.34C>T c.(34-36)Cgc>Tgc p.R12C LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12C NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 12 immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) CAGGGGATGCGCCATCTGCAG 0.612000 215 257 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 6 203 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228402610 228402610 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:228402610G>A ENST00000570156.2 + 5 1713 c.1639G>A c.(1639-1641)Ggc>Agc p.G547S OBSCN_ENST00000422127.1_Missense_Mutation_p.G547S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.G547S NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 547 Fibronectin type-III 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CACTATCGACGGCTACCTGGT 0.592000 4 130 0 0 1 0 0 PABPC5 140886 broad.mit.edu 37 X 90691366 90691366 + Missense_Mutation SNP A A T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chrX:90691366A>T ENST00000312600.3 + 2 1004 c.790A>T c.(790-792)Atc>Ttc p.I264F PABPC5_ENST00000373105.1_Missense_Mutation_p.I100F NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 264 RRM 3. cytoplasm nucleotide binding|RNA binding central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 TGGAAAGTCCATCGATGGAAA 0.458000 52 117 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12123822 12123822 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr6:12123822G>A ENST00000379388.2 + 4 4126 c.3794G>A c.(3793-3795)cGt>cAt p.R1265H NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1265 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TGGCCCCAGCGTAGTGAAACC 0.453000 187 221 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 8 222 0 0 1 0 0 IRX6 79190 broad.mit.edu 37 16 55362757 55362757 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr16:55362757G>A ENST00000290552.7 + 5 2199 c.867G>A c.(865-867)gcG>gcA p.A289A RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 289 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 GAAAGGGCGCGCAGTCACTGC 0.657000 6 323 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168098211 168098211 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:168098211G>A ENST00000519560.1 - 34 4538 c.4119C>T c.(4117-4119)ctC>ctT p.L1373L SLIT3_ENST00000332966.8_Silent_p.L1380L|SLIT3_ENST00000404867.3_Silent_p.L1373L NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1373 EGF-like 8. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACCTGTGGCCGAGGCAGGGGT 0.672000 5 167 0 0 1 0 0 CYP4A22 284541 broad.mit.edu 37 1 47614284 47614284 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:47614284G>A ENST00000371891.3 + 12 1406 c.1375G>A c.(1375-1377)Ggg>Agg p.G459R CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.G361R|CYP4A22-AS1_ENST00000444042.2_lincRNA NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 459 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GAACTGCATCGGGAAACAATT 0.602000 6 397 0 0 1 0 0 PCDHA13 0 broad.mit.edu 37 5 140263647 140263647 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:140263647C>T ENST00000289272.2 + 1 1794 c.1794C>T c.(1792-1794)gaC>gaT p.D598D PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.D598D|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGGTGGACGCCGATTCGG 0.692000 12 541 0 0 1 0 0 SH2D3C 10044 broad.mit.edu 37 9 130507312 130507312 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:130507312C>T ENST00000314830.8 - 7 1444 c.1331G>A c.(1330-1332)cGc>cAc p.R444H SH2D3C_ENST00000420366.1_Missense_Mutation_p.R286H|SH2D3C_ENST00000429553.1_Missense_Mutation_p.R90H|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R284H|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R287H|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R376H NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 444 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 ACTGGAACGGCGGGCGACAGG 0.647000 127 157 0 0 1 0 0 CUL7 9820 broad.mit.edu 37 6 43018136 43018136 + Splice_Site SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr6:43018136C>T ENST00000535468.1 - 5 1572 c.1485_splice c.e5-1 p.V496_splice CUL7_ENST00000265348.3_Splice_Site_p.V412_splice NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 412 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) TCCCAAAATACCTGGAGCATA 0.537000 76 87 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 8 139 0 0 1 0 0 CSPG5 10675 broad.mit.edu 37 3 47618381 47618381 + Missense_Mutation SNP T T A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr3:47618381T>A ENST00000383738.2 - 2 3233 c.1135A>T c.(1135-1137)Agt>Tgt p.S379C CSPG5_ENST00000264723.4_Missense_Mutation_p.S379C|CSPG5_ENST00000456150.1_Missense_Mutation_p.S241C NM_001206943.1|NM_001206945.1 NP_001193872.1|NP_001193874.1 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan C) 379 EGF-like. cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TGACAGTAACTTGGGAAGAGG 0.592000 49 875 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 40999870 40999870 + Missense_Mutation SNP G G T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:40999870G>T ENST00000399564.4 - 40 4944 c.4494C>A c.(4492-4494)aaC>aaA p.N1498K MROH2B_ENST00000506092.2_Missense_Mutation_p.N1053K NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GAATTTCCTGGTTTTTCTTGG 0.468000 8 320 5.68852e-11 6.13243e-11 1 1 0 SPTBN5 51332 broad.mit.edu 37 15 42172014 42172014 + Missense_Mutation SNP T T C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr15:42172014T>C ENST00000320955.6 - 15 3087 c.2860A>G c.(2860-2862)Agc>Ggc p.S954G NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 954 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GCAGAGCTGCTGACCTCAGCC 0.562000 39 156 0 0 1 0 0 RP11-80F22.15 0 broad.mit.edu 37 16 34739676 34739676 + RNA SNP G G T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr16:34739676G>T ENST00000562591.1 - 0 246 NR_034019.1 ATGCTCCAAAGAGATGTCCCA 0.408000 47 51 2.37825e-27 2.57874e-27 1 1 0 VAX1 11023 broad.mit.edu 37 10 118896117 118896117 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr10:118896117G>A ENST00000277905.2 - 2 539 c.295C>T c.(295-297)Cgg>Tgg p.R99W VAX1_ENST00000369206.5_Missense_Mutation_p.R99W NM_199131.2 NP_954582.1 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 99 nucleus sequence-specific DNA binding p.R99W(4) endometrium(1)|large_intestine(1)|lung(8)|ovary(2) 12 all cancers(201;0.0108) CTCTTAGGCCGGTCCAAGTCC 0.657000 5 253 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371102 240371102 + Missense_Mutation SNP T T C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:240371102T>C ENST00000319653.9 + 5 3220 c.2990T>C c.(2989-2991)aTa>aCa p.I997T NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 997 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GGAGCGGGCATACCCCCTCCG 0.697000 31 88 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47578839 47578839 + Missense_Mutation SNP G G T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr4:47578839G>T ENST00000273859.3 + 19 3685 c.3416G>T c.(3415-3417)gGa>gTa p.G1139V NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1139 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 GGATTTTCAGGAACATCCATG 0.418000 364 789 2.55502e-134 2.80301e-134 1 1 0 ERG 2078 broad.mit.edu 37 21 39755757 39755757 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr21:39755757G>A ENST00000442448.1 - 11 1228 c.957C>T c.(955-957)aaC>aaT p.N319N ERG_ENST00000398897.1_Silent_p.N220N|ERG_ENST00000398919.2_Silent_p.N343N|ERG_ENST00000417133.2_Silent_p.N343N|ERG_ENST00000398905.1_Silent_p.N312N|ERG_ENST00000288319.7_Silent_p.N336N|ERG_ENST00000398907.1_Silent_p.N313N|ERG_ENST00000398911.1_Silent_p.N319N|ERG_ENST00000453032.2_Silent_p.N244N|ERG_ENST00000398910.1_Silent_p.N320N NM_004449.4 NP_004440.1 P11308 ERG_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 343 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) TGAACTCCCCGTTGGTGCCTT 0.607000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 163 123 0 0 1 0 0 GRIN1 2902 broad.mit.edu 37 9 140036550 140036550 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:140036550G>A ENST00000371561.3 + 2 1441 c.344G>A c.(343-345)cGc>cAc p.R115H GRIN1_ENST00000371559.4_Missense_Mutation_p.R115H|GRIN1_ENST00000371560.3_Missense_Mutation_p.R115H|GRIN1_ENST00000371550.4_Missense_Mutation_p.R115H|GRIN1_ENST00000315048.3_Missense_Mutation_p.R115H|GRIN1_ENST00000371553.3_Missense_Mutation_p.R115H|GRIN1_ENST00000350902.5_Missense_Mutation_p.R115H|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Missense_Mutation_p.R115H|GRIN1_ENST00000371555.4_Missense_Mutation_p.R115H NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 115 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GGCTTCTACCGCATACCCGTG 0.627000 6 557 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33566734 33566734 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr11:33566734G>A ENST00000321505.4 + 2 2484 c.2304G>A c.(2302-2304)acG>acA p.T768T KIAA1549L_ENST00000389726.3_Silent_p.T774T|KIAA1549L_ENST00000265654.5_Silent_p.T774T KIAA1549-like GAGCATCCACGCCACGCCCAC 0.597000 269 173 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124377583 124377583 + Nonsense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr10:124377583C>T ENST00000338354.3 + 38 4661 c.4555C>T c.(4555-4557)Cga>Tga p.R1519* DMBT1_ENST00000344338.3_Nonsense_Mutation_p.R1509*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.R891*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.R891*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.R1509*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.R1519*|DMBT1_ENST00000359586.6_Nonsense_Mutation_p.R370* Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1519 SRCR 12. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGACAGGTGTCGAGGCCGAGT 0.572000 43 1588 0 0 1 0 0 COL6A2 0 broad.mit.edu 37 21 47545713 47545713 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr21:47545713G>A ENST00000300527.4 + 26 2088 c.1984G>A c.(1984-1986)Gtg>Atg p.V662M COL6A2_ENST00000397763.1_Missense_Mutation_p.V662M|COL6A2_ENST00000409416.1_Missense_Mutation_p.V662M|COL6A2_ENST00000310645.5_Missense_Mutation_p.V662M|COL6A2_ENST00000357838.4_Missense_Mutation_p.V662M NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 662 Nonhelical region.|VWFA 2. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GCGTGTGGGCGTGGTGCAGTA 0.647000 41 81 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 7 178 0 0 1 0 0 GLI4 2738 broad.mit.edu 37 8 144358694 144358694 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr8:144358694G>A ENST00000340042.1 + 4 936 c.851G>A c.(850-852)cGc>cAc p.R284H GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000523522.1_Missense_Mutation_p.R284H NM_138465.3 NP_612474.1 P10075 GLI4_HUMAN GLI family zinc finger 4 284 nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(5) 9 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) AACCTGGTGCGCCACCAGCGG 0.657000 4 125 0 0 1 0 0 PRR14 78994 broad.mit.edu 37 16 30667562 30667562 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr16:30667562G>A ENST00000542965.2 + 11 2144 c.1688G>A c.(1687-1689)cGg>cAg p.R563Q PRR14_ENST00000300835.4_Missense_Mutation_p.R563Q Q9BWN1 PRR14_HUMAN proline rich 14 563 breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) CTCCAGCAGCGGCTGGAGGAG 0.637000 6 355 0 0 1 0 0 GOLGA2B 0 broad.mit.edu 37 12 100550723 100550723 + RNA SNP G G C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr12:100550723G>C ENST00000397112.4 - 0 2098 NR_036632.1 large_intestine(1)|lung(3) 4 CAAGCTACTGGGGGGCGGGGG 0.647000 62 79 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117335865 117335865 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr11:117335865G>A ENST00000321322.6 - 17 3239 c.3238C>T c.(3238-3240)Cgg>Tgg p.R1080W DSCAML1_ENST00000527706.1_Missense_Mutation_p.R810W NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1020 Fibronectin type-III 2. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity p.R1080W(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TGGTAGCCCCGGATGACACCG 0.582000 20 245 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175897739 175897739 + Missense_Mutation SNP A A C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr4:175897739A>C ENST00000359240.3 + 5 1733 c.1063A>C c.(1063-1065)Ata>Cta p.I355L ADAM29_ENST00000514159.1_Missense_Mutation_p.I355L|ADAM29_ENST00000404450.4_Missense_Mutation_p.I355L|ADAM29_ENST00000445694.1_Missense_Mutation_p.I355L NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 355 Peptidase M12B. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding 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) ACCTAGATGCATAATGCATGA 0.383000 127 464 0 0 1 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74904292 74904292 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr11:74904292C>T ENST00000289575.5 + 9 1500 c.1105C>T c.(1105-1107)Cgc>Tgc p.R369C SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R347C|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.R142C|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.R114C|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.R142C|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R253C|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R225C NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 369 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) GCAGACCCTACGCCACCCCAT 0.642000 12 326 0 0 1 0 0 PCDHA4 0 broad.mit.edu 37 5 140188137 140188137 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:140188137C>T ENST00000530339.1 + 1 1365 c.1365C>T c.(1363-1365)ttC>ttT p.F455F PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.F455F|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.F455F NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCGGCGTTCGCGCAGCCCG 0.657000 8 363 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137721880 137721880 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:137721880G>A ENST00000371817.3 + 64 5540 c.5126G>A c.(5125-5127)cGt>cAt p.R1709H NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1709 Fibrillar collagen NC1. 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 p.R1709H(1) 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) GAATTCAAGCGTGGGAAACTG 0.537000 9 183 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122002846 122002846 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr3:122002846C>T ENST00000498619.1 + 7 2513 c.2075C>T c.(2074-2076)cCg>cTg p.P692L CASR_ENST00000296154.5_Missense_Mutation_p.P682L|CASR_ENST00000490131.1_Missense_Mutation_p.P682L NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 682 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CTGCGCCAGCCGGCCTTTGGC 0.607000 97 285 0 0 1 0 0 IPO9 55705 broad.mit.edu 37 1 201843427 201843427 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:201843427G>A ENST00000361565.4 + 21 2829 c.2760G>A c.(2758-2760)ctG>ctA p.L920L NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 920 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 TCCTAAAGCTGATCATCAACG 0.522000 15 450 0 0 1 0 0 TSPYL6 388951 broad.mit.edu 37 2 54482977 54482977 + Silent SNP C C T rs114346583 by1000genomes TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:54482977C>T ENST00000317802.7 - 1 432 c.312G>A c.(310-312)tcG>tcA p.S104S ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron NM_001003937.2 NP_001003937.2 Q8N831 TSYL6_HUMAN TSPY-like 6 104 nucleosome assembly nucleus NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2) 20 CAGTTGTCAGCGAGGCAGAGG 0.622000 10 230 0 0 1 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143986187 143986187 + Nonsense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:143986187C>T ENST00000409869.1 + 6 511 c.334C>T c.(334-336)Cga>Tga p.R112* ARHGAP15_ENST00000295095.6_Nonsense_Mutation_p.R112* Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 112 PH. regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity p.R112R(1) endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) TCTTTCTAGTCGAAGAATTGA 0.303000 11 287 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144825409 144825409 + Missense_Mutation SNP G G A rs558823 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:144825409G>A ENST00000440491.2 + 11 1361 c.1361G>A c.(1360-1362)gGt>gAt p.G454D NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Intron NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 GACTCACTGGGTAGATGGTAT 0.493000 6 775 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 6 28 0 0 1 0 0 MATN3 4148 broad.mit.edu 37 2 20205753 20205753 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:20205753C>T ENST00000407540.3 - 2 604 c.542G>A c.(541-543)cGa>cAa p.R181Q MATN3_ENST00000421259.2_Missense_Mutation_p.R181Q NM_002381.4 NP_002372.1 O15232 MATN3_HUMAN matrilin 3 181 VWFA. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGAGGGCTCTCGAGCCCCTGC 0.592000 5 150 0 0 1 0 0 PYROXD2 84795 broad.mit.edu 37 10 100152219 100152219 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr10:100152219C>T ENST00000370575.4 - 10 1080 c.1032G>A c.(1030-1032)ccG>ccA p.P344P PYROXD2_ENST00000483923.1_5'UTR NM_032709.2 NP_116098.2 Q8N2H3 PYRD2_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 2 344 oxidoreductase activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 12 AGGTGATCTGCGGTGATGTGT 0.537000 48 240 0 0 1 0 0 OSBPL7 114881 broad.mit.edu 37 17 45891044 45891044 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr17:45891044G>A ENST00000007414.3 - 15 1699 c.1508C>T c.(1507-1509)cCg>cTg p.P503L OSBPL7_ENST00000392507.3_Missense_Mutation_p.P503L NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 503 lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 AGTGTTGAGCGGCTCGTTGAG 0.637000 25 233 0 0 1 0 0 DEFB126 81623 broad.mit.edu 37 20 126290 126290 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr20:126290C>T ENST00000382398.3 + 2 553 c.293C>T c.(292-294)tCg>tTg p.S98L DEFB126_ENST00000542572.1_3'UTR NM_030931.2 NP_112193.1 Q9BYW3 DB126_HUMAN defensin, beta 126 98 defense response to bacterium extracellular region central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) ACTACTGCTTCGATGTCTTCG 0.458000 43 801 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10916473 10916473 + Missense_Mutation SNP C C A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr21:10916473C>A ENST00000298232.7 - 19 1486 c.1119G>T c.(1117-1119)aaG>aaT p.K373N TPTE_ENST00000361285.4_Missense_Mutation_p.K391N|TPTE_ENST00000342420.5_Missense_Mutation_p.K353N|TPTE_ENST00000415664.2_Intron NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 391 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CAACATATCTCTTCTGAAAAG 0.338000 5 281 0.184627 0.184627 1 1 0 ROBO2 6092 broad.mit.edu 37 3 77614262 77614262 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr3:77614262C>T ENST00000461745.1 + 12 2740 c.1840C>T c.(1840-1842)Cgc>Tgc p.R614C ROBO2_ENST00000487694.3_Missense_Mutation_p.R630C|ROBO2_ENST00000332191.8_Missense_Mutation_p.R614C NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 614 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AGATCCTGTGCGCACACAAGG 0.468000 6 372 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186672819 186672819 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:186672819G>A ENST00000343098.5 + 17 19053 c.19053G>A c.(19051-19053)aaG>aaA p.K6351K FSIP2_ENST00000424728.1_Silent_p.K6262K NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 GTGTTTTAAAGCACTCTGGCT 0.338000 112 146 0 0 1 0 0 IL1RN 3557 broad.mit.edu 37 2 113888640 113888640 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:113888640C>T ENST00000361779.3 + 5 467 c.122C>T c.(121-123)cCc>cTc p.P41L IL1RN_ENST00000409930.3_Missense_Mutation_p.P75L|IL1RN_ENST00000409052.1_Missense_Mutation_p.P41L|IL1RN_ENST00000259206.5_Missense_Mutation_p.P78L|IL1RN_ENST00000354115.2_Missense_Mutation_p.P57L NM_173843.2 NP_776215.1 P18510 IL1RA_HUMAN interleukin 1 receptor antagonist 75 immune response|inflammatory response|response to glucocorticoid stimulus centrosome|extracellular space|nucleus|plasma membrane cytokine activity|interleukin-1 receptor antagonist activity breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 10 Anakinra(DB00026) GATGTGGTACCCATTGAGCCT 0.483000 Lichen Sclerosis et Atrophicus, Familial Clustering of 51 235 0 0 1 0 0 IGHV3-43 0 broad.mit.edu 37 14 106926482 106926482 + RNA SNP T T C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr14:106926482T>C ENST00000434710.1 - 0 139 CCAGCTGCACTTCACACTGGA 0.527000 7 701 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 5 201 0 0 1 0 0 CCDC74B 91409 broad.mit.edu 37 2 130897154 130897154 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:130897154G>A ENST00000392984.3 - 7 2166 c.1423C>T c.(1423-1425)Cgg>Tgg p.R475W CCDC74B_ENST00000409943.3_Missense_Mutation_p.R307W|CCDC74B_ENST00000310463.6_Missense_Mutation_p.R373W Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 373 endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(110;0.1) TGCAGGCGCCGTTTCTGCATT 0.602000 5 122 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr17:21730847G>T ENST00000584755.1 + 2 546 c.149G>T c.(148-150)cGg>cTg p.R50L UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000584398.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCGGGAAGATGGC 0.522000 4 164 0.014758 0.014918 1 1 0 AC006293.3 0 broad.mit.edu 37 19 55221559 55221559 + RNA SNP G G T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:55221559G>T ENST00000413439.1 + 0 1339 ACGGGGGCCAGTACAGATGCT 0.672000 6 187 1.49906e-05 1.56187e-05 1 1 0 RPL32P3 0 broad.mit.edu 37 3 129116038 129116038 + RNA SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr3:129116038C>T ENST00000514355.1 - 0 412 lung(1) 1 GAGGCTTTCCCGCCCAGGGAC 0.567000 8 382 0 0 1 0 0 SPG7 6687 broad.mit.edu 37 16 89579447 89579447 + Splice_Site SNP T T C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr16:89579447T>C ENST00000268704.2 + 3 391 c.e3+2 SPG7_ENST00000341316.2_Splice_Site NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) AGGACGAAGGTATATTCATCT 0.423000 30 3 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179413171 179413171 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:179413171C>T ENST00000589042.1 - 339 93406 c.93182G>A c.(93181-93183)cGt>cAt p.R31061H TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22121H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22188H|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R29420H|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28493H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R21996H|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29420 Ig-like 139. 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) CTGCCAACTACGGCGACTTGC 0.498000 23 824 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 6 481 0 0 1 0 0 MCM6 4175 broad.mit.edu 37 2 136605704 136605704 + Missense_Mutation SNP G G A rs142938887 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:136605704G>A ENST00000264156.2 - 14 2032 c.1972C>T c.(1972-1974)Cgt>Tgt p.R658C MCM6_ENST00000492091.1_5'UTR NM_005915.5 NP_005906.2 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 658 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) GTTTCCACACGGATGATTGAT 0.393000 165 151 0 0 1 0 0 RRM1 6240 broad.mit.edu 37 11 4142834 4142834 + Splice_Site SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr11:4142834C>T ENST00000300738.5 + 10 1081 c.876_splice c.e10-1 p.R293_splice RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000534285.1_Splice_Site_p.R71_splice|RRM1_ENST00000537197.1_5'UTR|RRM1_ENST00000423050.2_Splice_Site_p.R196_splice NM_001033.3 NP_001024.1 P23921 RIR1_HUMAN ribonucleotide reductase M1 293 deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex ATP binding|ribonucleoside-diphosphate reductase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2) 14 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) TTACCACTAGCGTCCTGGGGC 0.373000 19 210 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132516562 132516562 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr12:132516562G>A ENST00000333577.4 + 31 6036 c.5927G>A c.(5926-5928)cGt>cAt p.R1976H EP400_ENST00000330386.6_Missense_Mutation_p.R1859H|EP400_ENST00000389562.2_Missense_Mutation_p.R1939H|EP400_ENST00000332482.4_Missense_Mutation_p.R1903H|EP400_ENST00000389561.2_Missense_Mutation_p.R1940H Q96L91 EP400_HUMAN E1A binding protein p400 1976 Helicase C-terminal. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) ACTCACAGCCGTACCACAGGT 0.463000 7 874 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63447722 63447722 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr14:63447722G>A ENST00000322893.7 - 6 1078 c.810C>T c.(808-810)ttC>ttT p.F270F KCNH5_ENST00000394968.1_Silent_p.F212F|KCNH5_ENST00000394964.2_Silent_p.F212F|KCNH5_ENST00000420622.2_Silent_p.F270F NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 270 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CGGGCCCCACGAAAGTCGTGT 0.433000 9 287 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82408791 82408791 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:82408791G>A ENST00000370728.1 + 8 1181 c.536G>A c.(535-537)cGt>cAt p.R179H LPHN2_ENST00000319517.6_Missense_Mutation_p.R179H|LPHN2_ENST00000370721.1_Missense_Mutation_p.R183H|LPHN2_ENST00000370717.2_Missense_Mutation_p.R179H|LPHN2_ENST00000370715.1_Missense_Mutation_p.R179H|LPHN2_ENST00000370730.1_Missense_Mutation_p.R179H|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.R179H|LPHN2_ENST00000370713.1_Missense_Mutation_p.R179H|LPHN2_ENST00000370727.1_Missense_Mutation_p.R179H|LPHN2_ENST00000335786.5_Missense_Mutation_p.R179H|LPHN2_ENST00000394879.1_Missense_Mutation_p.R179H|LPHN2_ENST00000359929.3_Missense_Mutation_p.R179H|LPHN2_ENST00000370723.1_Missense_Mutation_p.R179H|LPHN2_ENST00000271029.4_Missense_Mutation_p.R179H O95490 LPHN2_HUMAN latrophilin 2 179 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ACTCCCTATCGTACCGATACT 0.393000 69 219 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13700762 13700762 + Silent SNP A A G TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:13700762A>G ENST00000265104.4 - 78 13814 c.13710T>C c.(13708-13710)taT>taC p.Y4570Y NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4570 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TGTTTTCTGCATAAATCCTTA 0.378000 Kartagener syndrome 6 594 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108394663 108394663 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr3:108394663G>A ENST00000361582.3 + 25 2954 c.2724G>A c.(2722-2724)gcG>gcA p.A908A DZIP3_ENST00000463306.1_Silent_p.A908A NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 908 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 TAAAGGCTGCGGTAGACAGTT 0.363000 4 203 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167625947 167625947 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:167625947C>T ENST00000519204.1 + 15 2745 c.2627C>T c.(2626-2628)cCg>cTg p.P876L TENM2_ENST00000545108.1_Missense_Mutation_p.P997L|TENM2_ENST00000403607.2_Missense_Mutation_p.P821L|TENM2_ENST00000518659.1_Missense_Mutation_p.P997L|TENM2_ENST00000520394.1_Missense_Mutation_p.P765L teneurin transmembrane protein 2 GTGTGGCTGCCGTGGAACAGC 0.572000 9 286 0 0 1 0 0 KRTAP9-9 81870 broad.mit.edu 37 17 39411940 39411940 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr17:39411940C>T ENST00000394008.1 + 1 305 c.303C>T c.(301-303)ggC>ggT p.G101G NM_030975.2 NP_112237.2 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 101 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCAGCTGTGGCCAGAGCAGCT 0.617000 6 400 0 0 1 0 0 GRB10 2887 broad.mit.edu 37 7 50672033 50672033 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:50672033G>A ENST00000403097.1 - 15 2193 c.1413C>T c.(1411-1413)ccC>ccT p.P471P GRB10_ENST00000398810.2_Silent_p.P419P|GRB10_ENST00000398812.2_Silent_p.P477P|GRB10_ENST00000402578.1_Silent_p.P419P|GRB10_ENST00000407526.1_Silent_p.P419P|GRB10_ENST00000335866.3_Silent_p.P419P|GRB10_ENST00000401949.1_Silent_p.P477P|GRB10_ENST00000439599.1_Silent_p.P471P|GRB10_ENST00000402497.1_Silent_p.P419P|GRB10_ENST00000406641.1_Silent_p.P419P|GRB10_ENST00000357271.5_Silent_p.P431P Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 477 insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|SH3/SH2 adaptor activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) AAGGGTGGAGGGGACTTTGGC 0.502000 Russell-Silver syndrome 12 789 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44060806 44060806 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr17:44060806G>A ENST00000344290.5 + 6 958 c.636G>A c.(634-636)ccG>ccA p.P212P MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Silent_p.P212P|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000415613.2_Silent_p.P212P|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000571987.1_Silent_p.P212P|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 212 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) AAGAGAGGCCGGGGAGCAAGG 0.692000 5 75 0 0 1 0 0 RNF20 56254 broad.mit.edu 37 9 104312897 104312897 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:104312897C>T ENST00000389120.3 + 10 1192 c.1102C>T c.(1102-1104)Cgg>Tgg p.R368W NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 368 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding p.R368W(1) breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) GGTGGAATTGCGGAGTGCAGT 0.468000 7 829 0 0 1 0 0 SYMPK 8189 broad.mit.edu 37 19 46345734 46345734 + Silent SNP C C T rs150307195 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:46345734C>T ENST00000245934.7 - 9 1105 c.861G>A c.(859-861)ccG>ccA p.P287P NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 287 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) TGGCCAGCGTCGGGGGCAGGT 0.557000 6 263 0 0 1 0 0 PDE7A 5150 broad.mit.edu 37 8 66701121 66701121 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr8:66701121G>A ENST00000379419.4 - 1 198 c.56C>T c.(55-57)tCt>tTt p.S19F PDE7A_ENST00000396642.3_Intron|PDE7A_ENST00000401827.3_Intron NM_002603.3 NP_002594.1 Q13946 PDE7A_HUMAN phosphodiesterase 7A 45 cell fraction|cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1) 10 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Dyphylline(DB00651)|Ketotifen(DB00920) GCCTACCTTAGAGGTGATCCA 0.393000 10 438 0 0 1 0 0 OR2A4 79541 broad.mit.edu 37 6 132022505 132022505 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr6:132022505G>A ENST00000315453.2 - 1 130 c.37C>T c.(37-39)Cta>Tta p.L13L ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron NM_030908.1 NP_112170.1 O95047 OR2A4_HUMAN olfactory receptor, family 2, subfamily A, member 4 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1)|skin(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041) AATCCCAGTAGGAGGAACTCT 0.468000 16 264 0 0 1 0 0 CCNT1 904 broad.mit.edu 37 12 49087818 49087818 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr12:49087818G>A ENST00000261900.3 - 9 1401 c.1179C>T c.(1177-1179)cgC>cgT p.R393R NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 393 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 CATGCTTCGCGCGGTATTCTT 0.443000 25 937 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107869450 107869450 + Silent SNP T T C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chrX:107869450T>C ENST00000328300.6 + 36 3361 c.3117T>C c.(3115-3117)ggT>ggC p.G1039G COL4A5_ENST00000361603.2_Silent_p.G1039G NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1039 Triple-helical region. G -> S (in APSX; juvenile type). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GGCCTCAGGGTGTGGAAGGGC 0.418000 Alport syndrome with Diffuse Leiomyomatosis 9 191 0 0 1 0 0 CMIP 80790 broad.mit.edu 37 16 81641270 81641270 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr16:81641270G>A ENST00000537098.3 + 2 471 c.399G>A c.(397-399)acG>acA p.T133T CMIP_ENST00000539778.2_Silent_p.T39T NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 99 cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 TACAGCTCACGATTCCTGGGG 0.493000 4 160 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103276725 103276725 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:103276725G>A ENST00000424685.2 - 18 2419 c.2260C>T c.(2260-2262)Cgg>Tgg p.R754W RELN_ENST00000428762.1_Missense_Mutation_p.R754W|RELN_ENST00000343529.5_Missense_Mutation_p.R754W P78509 RELN_HUMAN reelin 754 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AGCTGACGCCGCCCATCTTTG 0.443000 6 299 0 0 1 0 0 ATP2A1 487 broad.mit.edu 37 16 28914723 28914723 + Missense_Mutation SNP A A C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr16:28914723A>C ENST00000395503.4 + 21 3126 c.2942A>C c.(2941-2943)gAc>gCc p.D981A ATP2A1_ENST00000357084.3_Missense_Mutation_p.D981A|ATP2A1_ENST00000536376.1_Missense_Mutation_p.D856A NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 981 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 ATTGGGCTCGACGAAATCCTC 0.612000 172 200 0 0 1 0 0 VLDLR 7436 broad.mit.edu 37 9 2644767 2644767 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:2644767G>A ENST00000382100.2 + 8 1456 c.1100G>A c.(1099-1101)tGt>tAt p.C367Y VLDLR_ENST00000382099.2_Missense_Mutation_p.C367Y NM_003383.3 NP_003374.3 P98155 VLDLR_HUMAN very low density lipoprotein receptor 367 EGF-like 1. cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) AATGGTGGATGTTCTCATATC 0.363000 54 219 0 0 1 0 0 OR6K3 391114 broad.mit.edu 37 1 158687397 158687397 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:158687397C>T ENST00000368146.1 - 1 556 c.557G>A c.(556-558)gGg>gAg p.G186E OR6K3_ENST00000368145.1_Missense_Mutation_p.G170E Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) TTGGTTGGGCCCACAGAAAGG 0.517000 18 367 0 0 1 0 0 FERD3L 222894 broad.mit.edu 37 7 19184847 19184847 + Nonsense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:19184847G>A ENST00000275461.3 - 1 197 c.139C>T c.(139-141)Cga>Tga p.R47* AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor 47 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.R47*(1) breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 CTTCCCTCTCGGAGCGCAAGG 0.657000 16 416 0 0 1 0 0 ITGB6 3694 broad.mit.edu 37 2 160964285 160964285 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:160964285C>T ENST00000283249.2 - 14 2410 c.2173G>A c.(2173-2175)Gtc>Atc p.V725I ITGB6_ENST00000428609.2_Missense_Mutation_p.V683I|ITGB6_ENST00000409967.2_Missense_Mutation_p.V618I|ITGB6_ENST00000409872.1_Missense_Mutation_p.V725I P18564 ITB6_HUMAN integrin, beta 6 725 cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 CACAGTAGGACAACCCCGATG 0.428000 26 330 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149485990 149485990 + RNA SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:149485990C>T ENST00000378016.2 + 0 4209 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACGACTGTGGCGATGGCTCTG 0.582000 6 161 0 0 1 0 0 CLSTN1 22883 broad.mit.edu 37 1 9803970 9803970 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:9803970G>A ENST00000377298.4 - 9 2120 c.1328C>T c.(1327-1329)cCt>cTt p.P443L CLSTN1_ENST00000377288.3_Missense_Mutation_p.P443L|CLSTN1_ENST00000361311.4_Missense_Mutation_p.P433L NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 443 homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) GAACTCTGCAGGTCTGTATTT 0.507000 137 504 0 0 1 0 0 PHF20 51230 broad.mit.edu 37 20 34526717 34526717 + Missense_Mutation SNP C C G TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr20:34526717C>G ENST00000374012.3 + 16 2528 c.2399C>G c.(2398-2400)aCc>aGc p.T800S PHF20_ENST00000439301.1_3'UTR Q9BVI0 PHF20_HUMAN PHD finger protein 20 800 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) GTCACTGACACCAGGAGCAAG 0.592000 8 517 0 0 1 0 0 KRTAP5-8 57830 broad.mit.edu 37 11 71249545 71249545 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr11:71249545C>T ENST00000398534.3 + 1 475 c.444C>T c.(442-444)tgC>tgT p.C148C NM_021046.2 NP_066384.2 O75690 KRA58_HUMAN keratin associated protein 5-8 148 9 X 4 AA repeats of C-C-X-P. extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1) 6 AGTCCAGCTGCTGTAAGCCCT 0.607000 8 856 0 0 1 0 0 CAMK2B 816 broad.mit.edu 37 7 44259760 44259760 + Silent SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:44259760G>A ENST00000395749.2 - 23 1978 c.1902C>T c.(1900-1902)acC>acT p.T634T CAMK2B_ENST00000440254.2_Silent_p.T510T|CAMK2B_ENST00000346990.4_Silent_p.T417T|CAMK2B_ENST00000358707.3_Silent_p.T471T|CAMK2B_ENST00000395747.2_Silent_p.T486T|CAMK2B_ENST00000350811.3_Silent_p.T510T|CAMK2B_ENST00000258682.6_Silent_p.T485T|CAMK2B_ENST00000457475.1_Silent_p.T486T|CAMK2B_ENST00000353625.4_Silent_p.T447T|CAMK2B_ENST00000347193.4_Silent_p.T460T|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000502837.2_3'UTR NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 634 interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 CAGACTGGCTGGTGCGGGGCC 0.667000 6 144 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107350622 107350622 + Missense_Mutation SNP G G T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:107350622G>T ENST00000265715.3 + 19 2437 c.2213G>T c.(2212-2214)gGt>gTt p.G738V SLC26A4_ENST00000541474.1_Missense_Mutation_p.G299V|SLC26A4_ENST00000543100.1_Missense_Mutation_p.G307V|SLC26A4_ENST00000544569.1_Missense_Mutation_p.G325V NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 738 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 TCTCAAGAGGGTCAAGGTTCC 0.358000 Pendred syndrome 5 394 0.000602214 0.000613732 1 1 0 ASTN2 23245 broad.mit.edu 37 9 119976846 119976846 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:119976846C>T ENST00000313400.4 - 3 906 c.806G>A c.(805-807)cGt>cAt p.R269H ASTN2_ENST00000373996.3_Missense_Mutation_p.R269H|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.R269H O75129 ASTN2_HUMAN astrotactin 2 269 integral to membrane p.R269H(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CCGGGATGAACGGAAGCTCTC 0.602000 90 163 0 0 1 0 0 MASP2 10747 broad.mit.edu 37 1 11106647 11106647 + Silent SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:11106647C>T ENST00000400897.3 - 3 393 c.378G>A c.(376-378)ccG>ccA p.P126P MASP2_ENST00000400898.3_Silent_p.P126P NM_006610.3 NP_006601.2 O00187 MASP2_HUMAN mannan-binding lectin serine peptidase 2 126 CUB 1. P -> L (in dbSNP:rs56392418). complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) ACCCCGTGAACGGCTTCTCGT 0.602000 6 162 0 0 1 0 0 C10orf91 170393 broad.mit.edu 37 10 134261371 134261371 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr10:134261371C>T ENST00000392630.3 + 3 305 c.244C>T c.(244-246)Cgt>Tgt p.R82C C10orf91_ENST00000321248.2_Missense_Mutation_p.R82C|C10orf91_ENST00000490765.1_3'UTR NM_173541.2 NP_775812.1 Q5T1B1 CJ091_HUMAN chromosome 10 open reading frame 91 82 endometrium(1)|kidney(1)|lung(1)|ovary(2) 5 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162) GCTTTCTCTGCGTCAGCCCCA 0.637000 41 836 0 0 1 0 0 MAML1 9794 broad.mit.edu 37 5 179193309 179193309 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:179193309C>T ENST00000292599.3 + 2 1561 c.1298C>T c.(1297-1299)aCg>aTg p.T433M MAML1_ENST00000503050.1_3'UTR NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 433 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGCAGCAGACGGGGCCCTCC 0.607000 100 547 0 0 1 0 0 ARF1 375 broad.mit.edu 37 1 228284870 228284870 + Missense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:228284870C>T ENST00000541182.1 + 2 317 c.55C>T c.(55-57)Cgc>Tgc p.R19C ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000272102.5_Missense_Mutation_p.R19C|ARF1_ENST00000540651.1_Missense_Mutation_p.R19C NM_001024227.1|NM_001024228.1 NP_001019398.1|NP_001019399.1 P84077 ARF1_HUMAN ADP-ribosylation factor 1 19 cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding|receptor signaling protein activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4) 10 Prostate(94;0.0405) AAAAGAAATGCGCATCCTCAT 0.542000 5 451 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109690583 109690583 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:109690583G>A ENST00000277225.5 + 3 4679 c.4390G>A c.(4390-4392)Gcc>Acc p.A1464T ZNF462_ENST00000457913.1_Missense_Mutation_p.A1464T|ZNF462_ENST00000441147.2_Missense_Mutation_p.A309T Q96JM2 ZN462_HUMAN zinc finger protein 462 1464 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 AGCCAACCCCGCCATATCCTC 0.527000 5 164 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72209576 72209576 + RNA SNP C C G rs147711959 by1000genomes TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:72209576C>G ENST00000438125.1 - 0 579 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity CTCGGAGCATCGACTATGACA 0.413000 5 390 0 0 1 0 0 LZIC 84328 broad.mit.edu 37 1 9990460 9990460 + Frame_Shift_Del DEL T T - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:9990460delT ENST00000377223.1 - 8 817 c.570delA c.(568-570)aafs p.K190fs LZIC_ENST00000541052.1_Frame_Shift_Del_p.K211fs|LZIC_ENST00000400903.2_Frame_Shift_Del_p.K190fs|LZIC_ENST00000377213.1_Frame_Shift_Del_p.K190fs Q8WZA0 LZIC_HUMAN leucine zipper and CTNNBIP1 domain containing 190 beta-catenin binding breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1) 7 all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419) CACCATGTCATTTTTTTGTTT 0.333 7 1427 --- --- --- --- CROCCP2 0 broad.mit.edu 37 1 16953827 16953828 + RNA INS - - C rs57007114 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:16953827_16953828insC ENST00000412962.1 - 0 477 TCACTTTCCTGCCCGAACCTCC 0.609 8 115 --- --- --- --- ESPNP 0 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 8 34 --- --- --- --- RP1-125I3.2 0 broad.mit.edu 37 1 26186960 26186960 + RNA DEL T T - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:26186960delT ENST00000455431.1 + 0 263 AATTTTGTAATTTTTTTTTTT 0.552 7 22 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210193 143210194 + RNA INS - - T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:143210193_143210194insT ENST00000412204.2 - 0 876_877 RP11-782C8.1_ENST00000438000.1_lincRNA GGCAGCATTTGTTTTTTTAACA 0.317 26 471 --- --- --- --- BCL9 607 broad.mit.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:147091501delC ENST00000234739.3 + 8 2280 c.1540delC c.(1540-1542)ccfs p.P517fs NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 517 Poly-Pro.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GGTCCGAGGACCCCCCCCTCC 0.582 T """IGH@, IGL@""" B-ALL 11 614 --- --- --- --- NBPF20 100288142 broad.mit.edu 37 1 148262260 148262260 + Frame_Shift_Del DEL G G - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:148262260delG ENST00000369202.1 - 98 12353 c.12156delC c.(12154-12156)ccfs p.P4052fs neuroblastoma breakpoint family, member 20 breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 27 AAAGTCACCTGGGGCATGGTG 0.443 7 2144 --- --- --- --- RP5-998N21.4 0 broad.mit.edu 37 1 149377834 149377839 + RNA DEL TCTTTG TCTTTG - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:149377834_149377839delTCTTTG ENST00000415338.1 - 0 1061 GTATCTCTTCTCTTTGTCTTTTTCTG 0.461 11 17 --- --- --- --- UBAP2L 9898 broad.mit.edu 37 1 154224030 154224036 + Frame_Shift_Del DEL AGTTTGG AGTTTGG - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:154224030_154224036delAGTTTGG ENST00000428931.1 + 14 1732_1738 c.1565_1571delAGTTTGG c.(1564-1572)cgfs p.QFG522fs UBAP2L_ENST00000361546.2_Frame_Shift_Del_p.QFG522fs|UBAP2L_ENST00000343815.6_Frame_Shift_Del_p.QFG522fs|UBAP2L_ENST00000271877.7_Frame_Shift_Del_p.QFG533fs NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 522 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GGGGCATTGCAGTTTGGGTCAGAGCCT 0.531 29 769 --- --- --- --- CADM3 57863 broad.mit.edu 37 1 159163298 159163299 + Frame_Shift_Ins INS - - AGCA TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:159163298_159163299insAGCA ENST00000368125.4 + 4 625_626 c.468_469insAGCA c.(466-471)gggcaafs p.Q157fs CADM3_ENST00000368124.4_Frame_Shift_Ins_p.Q191fs NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 157 Ig-like C2-type 1. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) AGTCTTCTGGGAGCAAGCCTGC 0.520 7 291 --- --- --- --- RYR2 6262 broad.mit.edu 37 1 237969494 237969494 + Frame_Shift_Del DEL T T - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr1:237969494delT ENST00000366574.2 + 99 14526 c.14209delT c.(14209-14211)ttfs p.F4739fs RYR2_ENST00000542537.1_Frame_Shift_Del_p.F4723fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.F4745fs NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4739 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTATAACAACTTTTTTTTTGC 0.403 7 250 --- --- --- --- SLC3A1 6519 broad.mit.edu 37 2 44502859 44502860 + Frame_Shift_Ins INS - - C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:44502859_44502860insC ENST00000260649.6 + 1 261_262 c.185_186insC c.(184-186)gcafs p.A62fs SLC3A1_ENST00000410056.3_Frame_Shift_Ins_p.A62fs|SLC3A1_ENST00000409229.3_Frame_Shift_Ins_p.A62fs|SLC3A1_ENST00000409741.1_Frame_Shift_Ins_p.A62fs|SLC3A1_ENST00000409387.1_Frame_Shift_Ins_p.A62fs NM_000341.3 NP_000332.2 Q07837 SLC31_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 1 62 carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) TTCAAGGGCGTCCAGCCCTATG 0.614 23 125 --- --- --- --- SLC9A4 389015 broad.mit.edu 37 2 103149137 103149137 + Frame_Shift_Del DEL A A - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:103149137delA ENST00000295269.4 + 12 2844 c.2387delA c.(2386-2388)cafs p.Q796fs NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 796 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CCTTTGCTCCAAAAAAAATAG 0.473 9 168 --- --- --- --- GCC2 9648 broad.mit.edu 37 2 109087883 109087884 + Frame_Shift_Ins INS - - A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:109087883_109087884insA ENST00000309863.6 + 6 2812_2813 c.2098_2099insA c.(2098-2100)aaafs p.K700fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 700 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ACTCAGTTCAGAAAAAAAACAG 0.307 9 1170 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr2:218712887_218712889delGCT ENST00000171887.4 - 17 2428_2430 c.1976_1978delAGC c.(1975-1980)cct>c p.QP659del TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del|TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 659 Gln-rich. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGTGGGCGAGgctgctgctgctg 0.660 7 80 --- --- --- --- EDEM1 9695 broad.mit.edu 37 3 5248941 5248941 + Frame_Shift_Del DEL T T - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr3:5248941delT ENST00000256497.4 + 7 1454 c.1321delT c.(1321-1323)ttfs p.F442fs EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 442 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) TCTGCAGGCCTTTTTCCCTGG 0.463 7 492 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 8 942 --- --- --- --- TFG 10342 broad.mit.edu 37 3 100455439 100455441 + In_Frame_Del DEL AGA AGA - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr3:100455439_100455441delAGA ENST00000240851.4 + 6 940_942 c.600_602delAGA c.(598-603)gca>gc p.AE200del TFG_ENST00000490574.1_In_Frame_Del_p.AE200del|TFG_ENST00000476228.1_In_Frame_Del_p.AE200del|TFG_ENST00000418917.2_In_Frame_Del_p.AE200del NM_001195478.1|NM_001195479.1|NM_006070.5 NP_001182407.1|NP_001182408.1|NP_006061.2 Q92734 TFG_HUMAN TRK-fused gene 200 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9) large_intestine(4)|lung(2)|prostate(1)|stomach(1) 8 GTGCTCCTGCAGAAGATCGTTCA 0.512 T """NTRK1, ALK""" """papillary thyroid, ALCL, NSCLC""" 28 250 --- --- --- --- EIF4G1 1981 broad.mit.edu 37 3 184039744 184039746 + In_Frame_Del DEL GAA GAA - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr3:184039744_184039746delGAA ENST00000342981.4 + 9 1786_1788 c.1372_1374delGAA c.(1372-1374)del p.E465del EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 465 Poly-Glu. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAGGAAATGgaagaagaagaag 0.562 7 347 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1389361 1389362 + Frame_Shift_Del DEL CA CA - rs71299249 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr4:1389361_1389362delCA ENST00000324803.4 + 1 4022_4023 c.1062_1063delCA c.(1060-1065)ctcafs p.LT354fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 354 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) CCCGCCTGCTCACACGTGCCCA 0.653 8 2078 --- --- --- --- UGDH 7358 broad.mit.edu 37 4 39515752 39515753 + Frame_Shift_Ins INS - - A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr4:39515752_39515753insA ENST00000316423.6 - 3 556_557 c.214_215insT c.(214-216)tacfs p.Y72fs UGDH_ENST00000506179.1_Frame_Shift_Ins_p.Y72fs|UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000501493.2_Frame_Shift_Ins_p.Y72fs NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase 72 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity p.S72fs*18(1) breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 NADH(DB00157) AATATTGGTAGAAAAAAAAAGA 0.297 16 813 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 9 238 --- --- --- --- FAM198B 51313 broad.mit.edu 37 4 159091487 159091489 + In_Frame_Del DEL GCT GCT - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr4:159091487_159091489delGCT ENST00000393807.5 - 3 1327_1329 c.921_923delAGC c.(919-924)gcg>gc p.AA307del FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000296530.8_Intron|FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000589306.1_Intron NM_001031700.2 NP_001026870.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 307 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 GGAAAGACACGCTGCTGCTGCTG 0.458 7 339 --- --- --- --- UFSP2 55325 broad.mit.edu 37 4 186336369 186336370 + Frame_Shift_Ins INS - - T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr4:186336369_186336370insT ENST00000264689.6 - 6 739_740 c.623_624insA c.(622-624)actfs p.T208fs NM_018359.3 NP_060829.2 Q9NUQ7 UFSP2_HUMAN UFM1-specific peptidase 2 208 endoplasmic reticulum|nucleus small conjugating protein-specific protease activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166) TTGTTACAAGATTTTTTTTCCC 0.342 110 215 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190882978 190882980 + Splice_Site DEL AAG AAG - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr4:190882978_190882980delAAG ENST00000226798.4 + 8 853_855 c.629_splice c.e8-1 p.K212_splice NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 212 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TCTTTACAGAAAGAAATTTCAGA 0.276 7 912 --- --- --- --- SRFBP1 153443 broad.mit.edu 37 5 121356129 121356130 + Frame_Shift_Ins INS - - A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:121356129_121356130insA ENST00000339397.4 + 6 771_772 c.699_700insA c.(697-702)acaaaafs p.TK233fs NM_152546.2 NP_689759.2 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1) 15 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) TAAGTCAAACCAAAAAAAACAA 0.401 10 561 --- --- --- --- TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG TTG - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:156378745_156378747delTTG ENST00000274532.2 - 3 511_513 c.455_457delCAA c.(454-459)agc>a p.TS152del TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 152 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTGGGGCTTGTTGTTGTTGT 0.537 11 1419 --- --- --- --- HMMR 3161 broad.mit.edu 37 5 162917425 162917426 + Frame_Shift_Ins INS - - A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr5:162917425_162917426insA ENST00000416990.2 + 17 2144_2145 c.1647_1648insA c.(1645-1650)gcaaaafs p.AK549fs RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.AK664fs|HMMR_ENST00000358715.3_Frame_Shift_Ins_p.AK663fs|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.AK648fs|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.AK577fs O75330 HMMR_HUMAN hyaluronan-mediated motility receptor (RHAMM) 663 cell surface|cytoplasm hyaluronic acid binding cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 23 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) GTCAGCTTGCTAAAAAAAAACA 0.307 8 566 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989434 42989451 + In_Frame_Del DEL CGGGGCCCGACGTCCCCG CGGGGCCCGACGTCCCCG - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr6:42989434_42989451delCGGGGCCCGACGTCCCCG ENST00000244496.5 + 1 52_69 c.42_59delCGGGGCCCGACGTCCCCG c.(40-60)gcc>gc p.AGARRPR14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 gggccggggccggggcccgacgtccccgcggggcccgg 0.784 7 13 --- --- --- --- PHIP 55023 broad.mit.edu 37 6 79655961 79655961 + Frame_Shift_Del DEL T T - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr6:79655961delT ENST00000275034.4 - 38 4554 c.4387delA c.(4387-4389)ggfs p.R1463fs PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1463 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TTTAAGATCCTTTTTTTCCTT 0.358 7 707 --- --- --- --- GABRR2 2570 broad.mit.edu 37 6 89975427 89975429 + In_Frame_Del DEL AAG AAG - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr6:89975427_89975429delAAG ENST00000402938.3 - 7 925_927 c.792_794delCTT c.(790-795)ttg>tt p.FL264del GABRR2_ENST00000602399.1_In_Frame_Del_p.FL289del P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 2 289 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1) 21 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) TGTTTGGAGCAAGAAGAAGAAGA 0.517 8 294 --- --- --- --- MAP3K5 4217 broad.mit.edu 37 6 136888858 136888859 + Frame_Shift_Ins INS - - CTCA rs139070587 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr6:136888858_136888859insCTCA ENST00000359015.4 - 26 4031_4032 c.3671_3672insTGAG c.(3670-3672)aacfs p.N1224fs MAP3K5_ENST00000355845.4_Frame_Shift_Ins_p.N471fs NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 1224 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) AACTGAGCGTGCTCACGCCTGA 0.475 66 105 --- --- --- --- CARD11 84433 broad.mit.edu 37 7 2963941 2963943 + In_Frame_Del DEL GGA GGA - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:2963941_2963943delGGA ENST00000396946.4 - 15 2267_2269 c.1864_1866delTCC c.(1864-1866)del p.S622del NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 622 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CGGATTGGTGGGAGGAGGAGGAG 0.616 Mis DLBCL 7 448 --- --- --- --- HOXA1 3198 broad.mit.edu 37 7 27135314 27135316 + In_Frame_Del DEL CGA CGA - rs10951154 byFrequency TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:27135314_27135316delCGA ENST00000343060.4 - 1 277_279 c.216_218delTCG c.(214-219)cac>ca p.HR72del HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 72 Poly-His. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Ctgggggtggcgatggtggtggt 0.650 OREG0003750 type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 11 373 --- --- --- --- OGDH 4967 broad.mit.edu 37 7 44684936 44684936 + Frame_Shift_Del DEL T T - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:44684936delT ENST00000222673.5 + 3 275 c.233delT c.(232-234)atfs p.I78fs OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 78 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.R81fs*19(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TCATGGGACATTTTTTTTCGC 0.577 12 856 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 7 92 --- --- --- --- DTX2 113878 broad.mit.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - rs147779783 byFrequency TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:76112249delA ENST00000324432.5 + 5 1203 c.693delA c.(691-693)ccfs p.P231fs DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 231 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 AGCACCCCCCACACAGGACCG 0.657 8 1745 --- --- --- --- DPY19L2P2 0 broad.mit.edu 37 7 102878163 102878164 + RNA INS - - TAAAATAAAA rs59775517 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:102878163_102878164insTAAAATAAAA ENST00000312132.4 - 0 2866 accccagaacttaaaataaaaa 0.351 8 53 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149518533 149518533 + RNA DEL C C - rs11353848 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr7:149518533delC ENST00000378016.2 + 0 12602 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GAGGAGCAGTCCCAGAGCCAG 0.711 13 14 --- --- --- --- NPM2 10361 broad.mit.edu 37 8 21892020 21892021 + Splice_Site INS - - A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr8:21892020_21892021insA ENST00000397940.1 + 7 1546_1547 c.e7-1 NPM2_ENST00000521157.1_Splice_Site|NPM2_ENST00000518119.1_Splice_Site|NPM2_ENST00000381530.5_Splice_Site|NPM2_ENST00000289820.6_Splice_Site Q86SE8 NPM2_HUMAN nucleophosmin/nucleoplasmin 2 chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization cytoplasmic chromatin|nuclear chromatin histone binding|nucleic acid binding large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618) TTGGTTCCCAGAAAAAAAAGCT 0.406 7 938 --- --- --- --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:43844265delG ENST00000377564.3 + 10 1992 c.1599delG c.(1597-1599)gcfs p.A533fs NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCAGGGGGCGCTGGGGAGTT 0.542 7 72 --- --- --- --- C9orf43 257169 broad.mit.edu 37 9 116187646 116187648 + In_Frame_Del DEL GCA GCA - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr9:116187646_116187648delGCA ENST00000288462.4 + 10 1334_1336 c.888_890delGCA c.(886-891)cgg>cg p.RQ296del C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 296 Gln-rich. breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 agcagcagcggcagcagcagcag 0.557 7 326 --- --- --- --- RUFY2 55680 broad.mit.edu 37 10 70156583 70156583 + Frame_Shift_Del DEL T T - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr10:70156583delT ENST00000388768.2 - 4 783 c.457delA c.(457-459)tgfs p.M153fs RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 167 RUN. nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 TAATCGGCCATTTTTTTTTGC 0.398 7 240 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr10:81070787_81070789delCTC ENST00000334512.5 + 24 3514_3516 c.2942_2944delCTC c.(2941-2946)gct>g p.AP981del ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 981 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CACAGTGGGGCTCCTCCTCCTCC 0.635 9 746 --- --- --- --- SCD 6319 broad.mit.edu 37 10 102107836 102107838 + In_Frame_Del DEL ACC ACC - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr10:102107836_102107838delACC ENST00000370355.2 + 2 424_426 c.43_45delACC c.(43-45)del p.T19del NM_005063.4 NP_005054.3 O00767 ACOD_HUMAN stearoyl-CoA desaturase (delta-9-desaturase) 19 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|large_intestine(3)|lung(5) 9 Colorectal(252;0.0323) Epithelial(162;1.97e-10)|all cancers(201;1.73e-08) TAGCTCCTATACCACCACCACCA 0.581 9 889 --- --- --- --- TRIM51HP 0 broad.mit.edu 37 11 55065032 55065032 + RNA DEL T T - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr11:55065032delT ENST00000526016.1 - 0 393 NR_038174.2 AAAGACTGCATTTTTTTTTAG 0.398 11 217 --- --- --- --- RTN3 10313 broad.mit.edu 37 11 63525788 63525788 + Frame_Shift_Del DEL T T - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr11:63525788delT ENST00000354497.4 + 4 634 c.570delT c.(568-570)gcfs p.A190fs RTN3_ENST00000537981.1_3'UTR|RTN3_ENST00000339997.4_3'UTR|RTN3_ENST00000540798.1_3'UTR|RTN3_ENST00000341307.2_3'UTR|RTN3_ENST00000356000.3_3'UTR|RTN3_ENST00000377819.5_3'UTR NM_001265591.1 NP_001252520.1 O95197 RTN3_HUMAN reticulon 3 0 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 CATTCCAAGCTTTTTTTTTAA 0.348 7 205 --- --- --- --- STRAP 11171 broad.mit.edu 37 12 16047015 16047015 + Frame_Shift_Del DEL A A - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr12:16047015delA ENST00000419869.2 + 5 751 c.438delA c.(436-438)atfs p.I146fs STRAP_ENST00000538352.1_Frame_Shift_Del_p.I52fs|STRAP_ENST00000025399.6_Frame_Shift_Del_p.I159fs NM_007178.3 NP_009109.3 Q9Y3F4 STRAP_HUMAN serine/threonine kinase receptor associated protein 146 mRNA processing|RNA splicing cell junction|mitochondrion|spliceosomal complex identical protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 15 Hepatocellular(102;0.121) CTTCTGGTATAAAAAAAGCTC 0.294 7 804 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56559127 56559128 + Frame_Shift_Ins INS - - G TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr12:56559127_56559128insG ENST00000394023.3 - 27 3311_3312 c.3206_3207insC c.(3205-3207)cggfs p.R1069fs RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.R1069fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.R1038fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.R1069fs NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1038 Pro-rich. 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) GGGGAACCCCTGGTGGGACTGC 0.584 9 319 --- --- --- --- R3HDM2 22864 broad.mit.edu 37 12 57674205 57674207 + In_Frame_Del DEL TGC TGC - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr12:57674205_57674207delTGC ENST00000402412.1 - 14 1668_1670 c.1278_1280delGCA c.(1276-1281)caa>ca p.QQ426del R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 412 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 AGCAGGAAGTtgctgctgctgct 0.576 11 393 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr12:72094757delT ENST00000266673.5 + 6 1587 c.993delT c.(991-993)ggfs p.G331fs NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 8 1062 --- --- --- --- SACS 26278 broad.mit.edu 37 13 23912863 23912864 + Frame_Shift_Ins INS - - T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr13:23912863_23912864insT ENST00000382298.3 - 10 5739_5740 c.5151_5152insA c.(5149-5154)aacctgfs p.NL1717fs SACS_ENST00000402364.1_Frame_Shift_Ins_p.NL967fs|SACS_ENST00000382292.3_Frame_Shift_Ins_p.NL1717fs NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1717 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GAAGAGCAGGATTTTTTTTTAA 0.361 7 250 --- --- --- --- RBM26 64062 broad.mit.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - - T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr13:79918806_79918807insT ENST00000438737.2 - 15 2621_2622 c.2181_2182insA c.(2179-2184)aaaggafs p.G728fs RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs|RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 728 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GTACTTACCTGTTTTTTTTTCT 0.332 11 187 --- --- --- --- TRAV9-2 0 broad.mit.edu 37 14 22409533 22409539 + RNA DEL CTCTCTC CTCTCTC - rs57759840 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr14:22409533_22409539delCTCTCTC ENST00000390441.2 + 0 102 ctctctctctctctctctTTTTTTTTT 0.415 9 34 --- --- --- --- IRF9 10379 broad.mit.edu 37 14 24633132 24633134 + In_Frame_Del DEL AGC AGC - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr14:24633132_24633134delAGC ENST00000396864.3 + 5 828_830 c.541_543delAGC c.(541-543)del p.S187del RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_In_Frame_Del_p.S85del NM_006084.4 NP_006075.3 Q00978 IRF9_HUMAN interferon regulatory factor 9 187 Poly-Ser. interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(265;0.00853) AGACATTGGGagcagcagcagca 0.567 8 309 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 8 712 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCGCAGCCGCTCCTCCTCCTCC 0.616 10 635 --- --- --- --- IGHV4-31 0 broad.mit.edu 37 14 106805656 106805656 + RNA DEL G G - rs112628447 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr14:106805656delG ENST00000438142.2 - 0 60 TTCTTGCACAGGAGGTCCAGG 0.502 7 236 --- --- --- --- UBN1 29855 broad.mit.edu 37 16 4910691 4910693 + In_Frame_Del DEL AGA AGA - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr16:4910691_4910693delAGA ENST00000396658.4 + 6 1401_1403 c.698_700delAGA c.(697-702)gag>g p.EK233del UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 233 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K234E(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GCCAGTAAGGAGAAGAAGAAGAA 0.453 14 1246 --- --- --- --- NPIPA1 9284 broad.mit.edu 37 16 15045758 15045759 + Frame_Shift_Ins INS - - GT TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr16:15045758_15045759insGT ENST00000328085.6 + 8 929_930 c.929_930insGT c.(928-930)gtgfs p.V310fs NPIPA1_ENST00000472413.1_3'UTR NM_006985.2 NP_008916.2 nuclear pore complex interacting protein family, member A1 ACACCTCCCGAGTGTCTGCTCA 0.559 7 620 --- --- --- --- TNRC6A 27327 broad.mit.edu 37 16 24807240 24807240 + Frame_Shift_Del DEL A A - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr16:24807240delA ENST00000395799.3 + 9 3670 c.3541delA c.(3541-3543)aafs p.K1182fs TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1182 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TCTGAGTGGCAAAAAAAGGAG 0.398 11 1012 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72821594 72821596 + In_Frame_Del DEL GCC GCC - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr16:72821594_72821596delGCC ENST00000268489.5 - 10 11251_11253 c.10579_10581delGGC c.(10579-10581)del p.G3527del AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Del_p.G2613del NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3527 Poly-Gly. G -> GGG. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AGTGGTACGAgccgccgccgccg 0.690 13 418 --- --- --- --- TRPV2 51393 broad.mit.edu 37 17 16335490 16335492 + In_Frame_Del DEL TGC TGC - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr17:16335490_16335492delTGC ENST00000338560.7 + 12 2264_2266 c.1865_1867delTGC c.(1864-1869)gtg>g p.VL622del TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del|TRPV2_ENST00000583241.1_3'UTR NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 622 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CGCGGCATGGTGCTGCTGCTGCT 0.596 10 285 --- --- --- --- HOXB2 3212 broad.mit.edu 37 17 46622130 46622132 + In_Frame_Del DEL AGG AGG - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr17:46622130_46622132delAGG ENST00000330070.4 - 1 1309_1311 c.142_144delCCT c.(142-144)del p.P48del HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 48 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 TTTGCTCGAAAGGAGGAGGAGGA 0.596 7 357 --- --- --- --- COIL 8161 broad.mit.edu 37 17 55028016 55028016 + Frame_Shift_Del DEL T T - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr17:55028016delT ENST00000240316.4 - 2 621 c.587delA c.(586-588)agfs p.K196fs NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 196 Lys-rich (basic). Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) ATTCTTAGCCTTTTTTTTATA 0.393 10 616 --- --- --- --- RNF43 54894 broad.mit.edu 37 17 56492756 56492757 + Frame_Shift_Del DEL CA CA - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr17:56492756_56492757delCA ENST00000584437.1 - 1 2137_2138 c.182_183delTG c.(181-183)cfs p.L61fs RNF43_ENST00000583753.1_Frame_Shift_Del_p.L61fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Frame_Shift_Del_p.L61fs|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Frame_Shift_Del_p.L61fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.L61fs Q68DV7 RNF43_HUMAN ring finger protein 43 61 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) AAGTGAGATTCAGTTTTCCTGT 0.426 308 29 --- --- --- --- TRAPPC8 22878 broad.mit.edu 37 18 29453417 29453418 + Frame_Shift_Ins INS - - A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr18:29453417_29453418insA ENST00000283351.4 - 14 2372_2373 c.2037_2038insT c.(2035-2040)ttgccafs p.LP679fs TRAPPC8_ENST00000582539.1_Frame_Shift_Ins_p.LP625fs NM_014939.3 NP_055754.2 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 679 ER to Golgi vesicle-mediated transport cis-Golgi network breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CTGTCATGGCCAAAAAAAACCC 0.356 7 176 --- --- --- --- HMHA1 23526 broad.mit.edu 37 19 1073174 1073175 + Frame_Shift_Ins INS - - C TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:1073174_1073175insC ENST00000313093.2 + 3 679_680 c.448_449insC c.(448-450)ccafs p.P150fs HMHA1_ENST00000539243.2_Frame_Shift_Ins_p.P166fs|HMHA1_ENST00000536472.1_5'UTR|HMHA1_ENST00000590214.1_Frame_Shift_Ins_p.P177fs|HMHA1_ENST00000592335.1_Frame_Shift_Ins_p.H31fs|HMHA1_ENST00000543365.1_Frame_Shift_Ins_p.P33fs|HMHA1_ENST00000586866.1_Frame_Shift_Ins_p.P154fs NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 150 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGCCCGCGGGCCCACGAGTGC 0.658 8 443 --- --- --- --- LILRB2 0 broad.mit.edu 37 19 54780707 54780709 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr19:54780707_54780709delGAG ENST00000391748.1 - 10 1559_1561 c.1432_1434delCTC c.(1432-1434)del p.L478del LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 479 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.L479L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggatgaggaagaggaggaggagg 0.611 7 451 --- --- --- --- CSRP2BP 57325 broad.mit.edu 37 20 18142695 18142695 + Frame_Shift_Del DEL A A - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr20:18142695delA ENST00000278816.2 + 6 1564 c.914delA c.(913-915)gafs p.E305fs CSRP2BP_ENST00000489634.2_Frame_Shift_Del_p.E177fs|CSRP2BP_ENST00000435364.2_Frame_Shift_Del_p.E305fs|CSRP2BP_ENST00000377681.2_Frame_Shift_Del_p.E304fs Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 305 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 GTGATTCTGGAAAAAGGCGAA 0.537 9 1144 --- --- --- --- ADNP 23394 broad.mit.edu 37 20 49508203 49508204 + Frame_Shift_Ins INS - - T rs6096163 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr20:49508203_49508204insT ENST00000396029.3 - 5 3614_3615 c.3047_3048insA c.(3046-3048)agcfs p.S1016fs ADNP_ENST00000396032.3_Frame_Shift_Ins_p.S1016fs|ADNP_ENST00000349014.3_Frame_Shift_Ins_p.S1016fs|ADNP_ENST00000371602.4_Frame_Shift_Ins_p.S1016fs NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 1016 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 GCATGGTAGCCTTTTTTTTGGC 0.460 13 792 --- --- --- --- SCAF4 57466 broad.mit.edu 37 21 33044257 33044259 + In_Frame_Del DEL GCT GCT - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr21:33044257_33044259delGCT ENST00000286835.7 - 20 3279_3281 c.2897_2899delAGC c.(2896-2901)cca>c p.QP966del SCAF4_ENST00000399804.1_In_Frame_Del_p.QP944del|SCAF4_ENST00000434667.3_In_Frame_Del_p.QP951del NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 966 Poly-Gln. nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GATGGTGgtggctgctgctgctg 0.581 16 432 --- --- --- --- PTTG1IP 754 broad.mit.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr21:46276194_46276196delGCA ENST00000330938.3 - 4 581_583 c.361_363delTGC c.(361-363)del p.C121del PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 121 Poly-Cys. protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) TCTTCCTCCTGCAGCAGCAGCAG 0.616 10 279 --- --- --- --- EIF4ENIF1 56478 broad.mit.edu 37 22 31884692 31884693 + Frame_Shift_Ins INS - - TCTCCTA rs148554829 by1000genomes TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr22:31884692_31884693insTCTCCTA ENST00000397525.1 - 2 235_236 c.12_13insTAGGAGA c.(10-15)aggtatfs p.RY4fs EIF4ENIF1_ENST00000330125.5_Frame_Shift_Ins_p.RY4fs|EIF4ENIF1_ENST00000397523.1_Frame_Shift_Ins_p.RY4fs|EIF4ENIF1_ENST00000344710.5_Frame_Shift_Ins_p.RY4fs NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 4 nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TCACCCATACTTCTCCTATCCA 0.455 52 213 --- --- --- --- BIK 638 broad.mit.edu 37 22 43525245 43525247 + In_Frame_Del DEL GCT GCT - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chr22:43525245_43525247delGCT ENST00000216115.2 + 5 480_482 c.417_419delGCT c.(415-420)gcg>gc p.AL139del NM_001197.4 NP_001188.1 Q13323 BIK_HUMAN BCL2-interacting killer (apoptosis-inducing) 139 Leucine-zipper (Potential). apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1) 5 Ovarian(80;0.0694) tgctgctggcgctgctgctgctg 0.724 7 354 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 10 33 --- --- --- --- ARMCX3 51566 broad.mit.edu 37 X 100880152 100880154 + In_Frame_Del DEL TGA TGA - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chrX:100880152_100880154delTGA ENST00000341189.4 + 5 1049_1051 c.183_185delTGA c.(181-186)tct>tc p.SD61del ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del|ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del NM_016607.3 NP_057691.1 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 61 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 ATGACTGGTCTGATGATGATGAT 0.517 8 557 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994639 140994641 + In_Frame_Del DEL CTC CTC - rs144357389 byFrequency TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chrX:140994639_140994641delCTC ENST00000285879.4 + 4 1735_1737 c.1449_1451delCTC c.(1447-1452)agc>ag p.SS487del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 487 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTGTGAGCTCCTCCTCCTCC 0.473 HNSCC(15;0.026) 9 765 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639325 149639327 + In_Frame_Del DEL CAG CAG - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chrX:149639325_149639327delCAG ENST00000370401.2 + 4 1790_1792 c.1480_1482delCAG c.(1480-1482)del p.Q502del MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR Q13495 MAMD1_HUMAN mastermind-like domain containing 1 502 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) AAGCcagcaacagcagcagcagc 0.532 10 159 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639633 149639635 + In_Frame_Del DEL GCA GCA - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chrX:149639633_149639635delGCA ENST00000370401.2 + 4 2098_2100 c.1788_1790delGCA c.(1786-1791)ctg>ct p.LQ596del MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del Q13495 MAMD1_HUMAN mastermind-like domain containing 1 596 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) CCTTgcagctgcagcagcagcag 0.611 9 226 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 7 379 --- --- --- --- PLXNA3 55558 broad.mit.edu 37 X 153688564 153688565 + Frame_Shift_Ins INS - - G TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chrX:153688564_153688565insG ENST00000369682.3 + 2 216_217 c.41_42insG c.(40-42)gggfs p.G14fs NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 14 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity p.A17fs*39(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TTCCTTGCCGTGGGGGGGGCCC 0.683 7 268 --- --- --- --- RNA5-8SP6 0 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d00f80a5-fa4b-4d37-a76b-42a7154ad590 beda0a75-c66e-4fd5-a31b-fe48334234e1 g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 7 39 --- --- --- ---