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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut HDAC7 51564 broad.mit.edu 37 12 48189006 48189006 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:48189006G>A uc010slo.2 - 10 1440 c.1245C>T c.(1243-1245)ccC>ccT p.P415P HDAC7_uc001rqe.3_5'Flank|HDAC7_uc001rqj.4_Silent_p.P378P|HDAC7_uc001rqk.4_Silent_p.P398P NM_015401 NP_056216 Q8WUI4 HDAC7_HUMAN Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA. 376 Transcription repression 2 (By similarity). negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GBM - Glioblastoma multiforme(48;0.137) GCTCCAGGCGGGGCTGCATGG 0.647000 56 37 0 0 0.000509022 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204412635 204412635 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:204412635C>T uc001haw.3 - 19 3437 c.2958G>A c.(2956-2958)ctG>ctA p.L986L PIK3C2B_uc010pqv.2_Silent_p.L958L NM_002646 NP_002637 O00750 P3C2B_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA. 986 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) ACTCTTCTCTCAGCCCCTTGC 0.592000 55 71 0 0 0.000781405 0 0 LOC341056 341056 broad.mit.edu 37 11 122888438 122888438 + RNA SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:122888438C>T uc010rzt.2 + 0 c.165C>T Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA. ACTGGAGGCCCCGAAATGGCT 0.607000 26 18 0 0 0.000175454 0 0 PIGV 55650 broad.mit.edu 37 1 27121634 27121634 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:27121634C>T uc001bmz.3 + 2 1472 c.1109C>T c.(1108-1110)cCc>cTc p.P370L PIGV_uc001bna.3_Missense_Mutation_p.P370L|PIGV_uc010ofg.2_Missense_Mutation_p.P135L NM_017837 NP_060307 Q9NUD9 PIGV_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 2, mRNA. 370 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 14 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) CTAGAGAAGCCCGATCTTGGA 0.542000 46 74 0 0 0.000781405 0 0 CXorf48 54967 broad.mit.edu 37 X 134292130 134292130 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chrX:134292130C>T uc004eyk.1 - 3 1187 c.531G>A c.(529-531)acG>acA p.T177T CXorf48_uc004eyl.1_Silent_p.T177T NM_001031705 NP_001026875 Q8WUE5 CX048_HUMAN Homo sapiens chromosome X open reading frame 48 (CXorf48), transcript variant 1, mRNA. 177 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Acute lymphoblastic leukemia(192;0.000127) TTACCTCTTCCGTATGAATAC 0.433000 7 17 0 0 0.000566183 0 0 SETD1A 9739 broad.mit.edu 37 16 30977592 30977592 + Missense_Mutation SNP T A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr16:30977592T>A uc002ead.1 + 7 3076 c.2390T>A c.(2389-2391)aTg>aAg p.M797K NM_014712 NP_055527 O15047 SET1A_HUMAN Homo sapiens SET domain containing 1A (SETD1A), mRNA. 797 regulation of transcription, DNA-dependent|transcription, DNA-dependent Set1C/COMPASS complex|chromosome|nuclear speck RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 GTGCTCGCCATGCTGGTCCAG 0.637000 19 5 0 0 3.59834e-05 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74957790 74957790 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:74957790C>T uc001dge.2 + 24 2561 c.2494C>T c.(2494-2496)Cct>Tct p.P832S FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.P731S NM_001112808 NP_001106279 Q59H18 TNI3K_HUMAN Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA. 731 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding GCTGATGTCTCCTGCATCAAG 0.453000 175 21 0 0 0.000586117 0 0 UBR4 23352 broad.mit.edu 37 1 19494609 19494610 + Missense_Mutation DNP CC AA AA TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:19494609_19494610CC>AA uc001bbi.3 - 27 3814_3815 c.3810_3811GG>TT c.(3808-3813)ctgggg>ctTTgg p.G1271W UBR4_uc001bbm.1_Missense_Mutation_p.G482W NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 1271 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CAGAGAGTCCCCAGGTGTGCAG 0.495000 80 6 0 0 6.4e-05 0 0 ATP8B2 57198 broad.mit.edu 37 1 154316679 154316679 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:154316679C>T uc001fex.3 + 18 2083 c.2083C>T c.(2083-2085)Ctc>Ttc p.L695F NM_020452 NP_065185 P98198 AT8B2_HUMAN Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA. 681 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GACCATTGCCCTCCTGACACT 0.537000 48 7 0 0 0.000157383 0 0 MLL2 8085 broad.mit.edu 37 12 49420214 49420215 + Missense_Mutation DNP GG AA AA TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:49420214_49420215GG>AA uc001rta.4 - 47 15534_15535 c.15534_15535CC>TT c.(15532-15537)ttccgt>ttTTgt p.R5179C NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 5179 FYR N-terminal. R -> H (in KABS). chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 CCCCCCACACGGAACATGTGCA 0.589000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 23 10 0 0 6.4e-05 0 0 AK308867 0 broad.mit.edu 37 16 70268158 70268158 + RNA SNP A C C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr16:70268158A>C uc010cfp.1 - 2 c.257T>G Homo sapiens cDNA, FLJ98908. TTCTTCATTAAAACAGCTACT 0.333000 11 3 0 0 6.4e-05 0 0 FAM60A 58516 broad.mit.edu 37 12 31448266 31448266 + Splice_Site SNP A G G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:31448266A>G uc001rkc.3 - 2 446 c.204_splice c.e2-1 p.G68_splice FAM60A_uc010sjz.2_Splice_Site_p.G43_splice|FAM60A_uc001rkd.3_Splice_Site_p.G43_splice|FAM60A_uc010ska.2_Splice_Site_p.G43_splice|FAM60A_uc001rke.3_Splice_Site_p.G43_splice|FAM60A_uc010skb.2_Intron NM_021238 NP_067061 Q9NP50 FA60A_HUMAN Homo sapiens family with sequence similarity 60, member A (FAM60A), transcript variant 2, mRNA. 43 large_intestine(1)|lung(2) 3 all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162) GTCTCATGCAATCTGATAAGA 0.383000 55 12 0 0 0.000219431 0 0 SCFD1 23256 broad.mit.edu 37 14 31204066 31204066 + Splice_Site SNP T C C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr14:31204066T>C uc001wqm.1 + 24 1929 c.1905_splice c.e24+2 p.Q635_splice SCFD1_uc001wqn.1_Splice_Site_p.Q568_splice|SCFD1_uc010tpg.1_Splice_Site_p.Q576_splice|SCFD1_uc010tph.1_Splice_Site_p.Q450_splice|SCFD1_uc010amf.1_Splice_Site_p.Q450_splice|SCFD1_uc010tpi.1_Splice_Site_p.Q543_splice NM_016106 NP_057190 Q8WVM8 SCFD1_HUMAN Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA. 635 post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis Golgi cisterna membrane|Golgi-associated vesicle|cis-Golgi network|endoplasmic reticulum membrane|plasma membrane syntaxin-5 binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1) 13 Hepatocellular(127;0.0877) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119) GBM - Glioblastoma multiforme(265;0.0181) ATAAAACAGGTAAAGTATACA 0.358000 24 36 0 0 0.00058488 0 0 ECE2 9718 broad.mit.edu 37 3 183967612 183967612 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:183967612G>A uc003fni.4 + 0 168 c.130G>A c.(130-132)Gac>Aac p.D44N ALG3_uc003fne.2_5'Flank|ALG3_uc011brc.1_5'Flank|ALG3_uc011brd.1_5'Flank|ALG3_uc011bre.1_5'Flank|ALG3_uc011brf.1_5'Flank|ECE2_uc003fnh.4_Missense_Mutation_p.D44N NM_014693 NP_055508 O60344 ECE2_HUMAN Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA. 44 Methyltransferase-like region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing Golgi membrane|cytoplasmic vesicle membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TTGGTTCGGGGACTTCTCCTC 0.652000 OREG0015944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 29 0 0 0.000692331 0 0 CCDC83 220047 broad.mit.edu 37 11 85606409 85606409 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:85606409G>A uc001pbg.1 + 5 1097 c.585G>A c.(583-585)aaG>aaA p.K195K CCDC83_uc001pbh.1_Silent_p.K195K|CCDC83_uc001pbj.1_Silent_p.K96K|CCDC83_uc001pbi.1_Non-coding_Transcript NM_173556 NP_775827 Q8IWF9 CCD83_HUMAN Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA. 195 breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) TGGACCAAAAGAAGGAATGGG 0.279000 54 42 0 0 0.000781405 0 0 VCP 7415 broad.mit.edu 37 9 35061054 35061055 + Missense_Mutation DNP GG AA AA TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:35061054_35061055GG>AA uc003zvy.2 - 10 1705_1706 c.1316_1317CC>TT c.(1315-1317)gcc>gTT p.A439V VCP_uc010mkh.1_Missense_Mutation_p.A108V|VCP_uc010mki.1_Missense_Mutation_p.A394V NM_007126 NP_009057 P55072 TERA_HUMAN Homo sapiens valosin containing protein (VCP), mRNA. 439 ER-associated protein catabolic process|activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding p.A439A(2) breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TCATGACCTCGGCATCAATGGT 0.530000 116 36 0 0 6.4e-05 0 0 CAP2 10486 broad.mit.edu 37 6 17543150 17543150 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:17543150C>T uc003ncb.3 + 9 1328 c.1085C>T c.(1084-1086)tCa>tTa p.S362L CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.S336L|CAP2_uc011djb.2_Missense_Mutation_p.S298L|CAP2_uc011djc.2_Missense_Mutation_p.S250L|CAP2_uc011djd.2_Missense_Mutation_p.S102L NM_006366 NP_006357 P40123 CAP2_HUMAN Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA. 362 C-CAP/cofactor C-like. activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1) 27 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) TGCGAAAAATCAACTATTCAG 0.338000 81 48 0 0 0.000781405 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 51 19 0 0 0.000175454 0 0 IGFN1 91156 broad.mit.edu 37 1 201196074 201196074 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:201196074G>A uc001gwc.3 + 22 10981 c.10851G>A c.(10849-10851)ctG>ctA p.L3617L IGFN1_uc001gwb.3_Non-coding_Transcript NM_001164586 NP_001158058 Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA. autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CCCGGTTCCTGGTGGGCCTGC 0.662000 28 58 0 0 0.000781405 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278216 36278216 + Nonsense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:36278216C>T uc002obs.2 + 20 2410 c.2266C>T c.(2266-2268)Cag>Tag p.Q756* ARHGAP33_uc002obt.2_Nonsense_Mutation_p.Q781*|ARHGAP33_uc002obv.1_Nonsense_Mutation_p.Q505* NM_052948 NP_443180 O14559 RHG33_HUMAN Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA. 809 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 GCAACAGAGCCAGCAGGAGTG 0.721000 15 8 0 0 0.000442599 0 0 DENND3 22898 broad.mit.edu 37 8 142146806 142146807 + Missense_Mutation DNP GG AA AA TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr8:142146806_142146807GG>AA uc003yvy.3 + 1 339_340 c.61_62GG>AA c.(61-63)ggg>AAg p.G21K DENND3_uc003yvw.1_Missense_Mutation_p.G34K|DENND3_uc003yvx.3_Missense_Mutation_p.G101K|DENND3_uc010mep.3_Missense_Mutation_p.G34K NM_014957 NP_055772 A2RUS2 DEND3_HUMAN Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA. 21 UDENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GGGCCTCCCGGGGCCCCCCAGA 0.653000 9 4 0 0 6.4e-05 0 0 EDIL3 10085 broad.mit.edu 37 5 83433158 83433158 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:83433158C>T uc003kio.1 - 4 789 c.370G>A c.(370-372)Gaa>Aaa p.E124K EDIL3_uc003kip.1_Missense_Mutation_p.E114K NM_005711 NP_005702 O43854 EDIL3_HUMAN Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA. 124 EGF-like 3. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding p.E124D(1) cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) GGCTCAACTTCGCATTCATTT 0.333000 39 23 0 0 0.000229342 0 0 PDIA3 2923 broad.mit.edu 37 15 44053692 44053692 + Silent SNP T C C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:44053692T>C uc001zsu.3 + 3 583 c.435T>C c.(433-435)ttT>ttC p.F145F PDIA3_uc010bdp.3_Silent_p.F125F|PDIA3_uc010ued.2_5'UTR NM_005313 NP_005304 P30101 PDIA3_HUMAN Homo sapiens protein disulfide isomerase family A, member 3 (PDIA3), mRNA. 145 cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein import into nucleus|protein retention in ER lumen|signal transduction endoplasmic reticulum lumen|melanosome cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1) 17 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) AGGAAGAATTTAAGAAATTCA 0.393000 65 19 0 0 0.000175454 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A G G rs146714035 by1000genomes TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:145367739A>G uc021oul.1 + 82 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 3445 p.K3445K(8) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 42 4 0 0 0.00024832 0 0 OR4D9 390199 broad.mit.edu 37 11 59283084 59283084 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:59283084G>A uc010rkv.2 + 0 699 c.699G>A c.(697-699)agG>agA p.R233R NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA. 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 GGGAAGGCAGGAGGAAAGCCA 0.512000 92 65 0 0 0.000781405 0 0 HRNR 388697 broad.mit.edu 37 1 152188349 152188349 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:152188349G>A uc001ezt.1 - 2 5832 c.5756C>T c.(5755-5757)tCa>tTa p.S1919L NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 1919 keratinization calcium ion binding|protein binding p.S1919*(2) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGGAAGATGAACCTGAGCT 0.577000 743 67 0 0 0.000781405 0 0 KIAA1244 57221 broad.mit.edu 37 6 138628449 138628449 + Nonsense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:138628449G>A uc003qhu.3 + 22 4059 c.3888G>A c.(3886-3888)tgG>tgA p.W1296* NM_020340 NP_065073 Q5TH69 BIG3_HUMAN Homo sapiens KIAA1244 (KIAA1244), mRNA. 1296 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) AGTCGGGATGGAGACCCTTGT 0.512000 71 40 0 0 0.000228196 0 0 MLL2 8085 broad.mit.edu 37 12 49425221 49425221 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:49425221G>A uc001rta.4 - 38 13267 c.13267C>T c.(13267-13269)Cca>Tca p.P4423S NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 4423 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 AGGGCACATGGCTCTTCCCGA 0.622000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 20 14 0 0 0.000219431 0 0 FBXL4 26235 broad.mit.edu 37 6 99365585 99365585 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:99365585G>A uc003ppf.1 - 3 881 c.523C>T c.(523-525)Ctt>Ttt p.L175F FBXL4_uc003ppg.1_Missense_Mutation_p.L175F|FBXL4_uc003pph.1_Intron NM_012160 NP_036292 Q9UKA2 FBXL4_HUMAN Homo sapiens F-box and leucine-rich repeat protein 4 (FBXL4), mRNA. 175 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 18 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) TCTGACCAAAGAATCTCCCAT 0.408000 42 10 0 0 0.000442599 0 0 STK31 56164 broad.mit.edu 37 7 23871965 23871965 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:23871965G>A uc003sws.4 + 23 3107 c.3040G>A c.(3040-3042)Gaa>Aaa p.E1014K STK31_uc003swt.4_Missense_Mutation_p.E991K|STK31_uc011jze.2_Missense_Mutation_p.E991K|STK31_uc010kuq.3_Missense_Mutation_p.E991K|STK31_uc003swv.1_Intron NM_031414 NP_116562 Q9BXU1 STK31_HUMAN Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA. 1014 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AAGAAATGGTGAAGCCAACTT 0.313000 113 97 0 0 0.000781405 0 0 CLK2P 1197 broad.mit.edu 37 7 23625490 23625490 + Missense_Mutation SNP C G G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:23625490C>G uc003swk.2 - 0 657 c.7G>C c.(7-9)Gac>Cac p.D3H Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA. TCGAACCAGTCAAACATCTGG 0.488000 20 4 0 0 0.00024832 0 0 DNAH1 25981 broad.mit.edu 37 3 52433701 52433701 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:52433701G>A uc011bef.2 + 76 12843 c.12582G>A c.(12580-12582)gaG>gaA p.E4194E DNAH1_uc003ddv.3_Missense_Mutation_p.R1027K NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 4259 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TGTACACAGAGATGGCCGTTA 0.552000 48 28 0 0 0.000878237 0 0 DDX39B 7919 broad.mit.edu 37 6 31500583 31500584 + Missense_Mutation DNP GG AA AA TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:31500583_31500584GG>AA uc003ntt.3 - 6 1498_1499 c.840_841CC>TT c.(838-843)gacctt>gaTTtt p.L281F DDX39B_uc003ntr.3_Missense_Mutation_p.L88F|DDX39B_uc003ntu.3_Missense_Mutation_p.L281F|DDX39B_uc011dnn.2_Missense_Mutation_p.L203F|DDX39B_uc003ntv.3_Missense_Mutation_p.L281F NM_004640 NP_542165 Q13838 DX39B_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B), transcript variant 1, mRNA. 281 Helicase C-terminal. RNA secondary structure unwinding|intronless viral mRNA export from host nucleus|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent RNA helicase activity|ATP-dependent protein binding|U4 snRNA binding|U6 snRNA binding|identical protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 ACATCCAGAAGGTCAAAGAGCT 0.490000 65 25 0 0 6.4e-05 0 0 ZNF799 90576 broad.mit.edu 37 19 12503428 12503428 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:12503428C>T uc010dyt.3 - 2 384 c.180G>A c.(178-180)agG>agA p.R60R ZNF799_uc002mts.4_Intron NM_001080821 NP_001074290 Q96GE5 ZN799_HUMAN Homo sapiens zinc finger protein 799 (ZNF799), mRNA. 60 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTAGATTTTTCCTGGGATATC 0.294000 31 26 0 0 0.00106085 0 0 MGAM 8972 broad.mit.edu 37 7 141803218 141803218 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:141803218C>T uc003vwy.3 + 46 5529 c.5475C>T c.(5473-5475)ttC>ttT p.F1825F NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1825 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CACCCTCCTTCAACAATGACC 0.502000 15 10 0 0 0.000978159 0 0 HTRA1 5654 broad.mit.edu 37 10 124273856 124273856 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:124273856C>T uc001lgj.2 + 8 1552 c.1424C>T c.(1423-1425)cCc>cTc p.P475L NM_002775 NP_002766 Q92743 HTRA1_HUMAN Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA. 475 proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity p.P475P(1) 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) ACAGTGATTCCCGAAGAAATT 0.507000 55 14 0 0 0.000422831 0 0 ALMS1 7840 broad.mit.edu 37 2 73677148 73677148 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:73677148C>T uc002sje.1 + 7 3602 c.3491C>T c.(3490-3492)cCt>cTt p.P1164L ALMS1_uc002sjf.1_Missense_Mutation_p.P1122L|ALMS1_uc002sjg.3_Missense_Mutation_p.P552L|ALMS1_uc002sjh.1_Missense_Mutation_p.P552L NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA. 1164 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 ACTCATATACCTGAAGAGGCT 0.458000 53 113 0 0 0.000781405 0 0 FAM181A 90050 broad.mit.edu 37 14 94395003 94395003 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr14:94395003G>A uc001ybz.2 + 2 883 c.558G>A c.(556-558)caG>caA p.Q186Q FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Silent_p.Q124Q|FAM181A_uc021saz.1_Silent_p.Q124Q|FAM181A_uc010aus.2_Silent_p.Q124Q|FAM181A_uc001yca.2_Silent_p.Q124Q NM_138344 NP_001194003 Q8N9Y4 F181A_HUMAN Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA. 186 cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 AAGCTGCCCAGCCTGGCCAGG 0.632000 13 20 0 0 0.000175454 0 0 KSR2 283455 broad.mit.edu 37 12 118293345 118293345 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:118293345C>T uc001two.2 - 2 328 c.273G>A c.(271-273)ttG>ttA p.L91L NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 120 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCGTCATCTCCAAGAGGTCCT 0.607000 23 24 0 0 0.00047179 0 0 NDUFAF5 79133 broad.mit.edu 37 20 13769244 13769244 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:13769244C>T uc002wom.3 + 2 316 c.273C>T c.(271-273)ccC>ccT p.P91P NDUFAF5_uc002woo.3_Non-coding_Transcript|NDUFAF5_uc002won.3_Silent_p.P91P NM_024120 NP_077025 Q5TEU4 CT007_HUMAN Homo sapiens chromosome 20 open reading frame 7 (C20orf7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 91 mitochondrial respiratory chain complex I assembly extrinsic to mitochondrial inner membrane methyltransferase activity GAAATTTCCCCCTTGCTTTGG 0.303000 13 43 0 0 0.000781405 0 0 RFX6 222546 broad.mit.edu 37 6 117248363 117248363 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:117248363C>T uc003pxm.3 + 16 2122 c.2059C>T c.(2059-2061)Ccc>Tcc p.P687S NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 687 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding p.P687L(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 GCCCATTTATCCCACTCTCCC 0.522000 27 23 0 0 0.000295444 0 0 VPS53 55275 broad.mit.edu 37 17 440338 440338 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:440338C>T uc010cjo.2 - 17 2092 c.1945G>A c.(1945-1947)Gtc>Atc p.V649I VPS53_uc002frk.3_Missense_Mutation_p.V168I|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Missense_Mutation_p.V620I|VPS53_uc002frn.2_Missense_Mutation_p.V649I|VPS53_uc002fro.2_Missense_Mutation_p.V451I|VPS53_uc010cjp.1_Missense_Mutation_p.V372I NM_001128159 NP_001121631 Q5VIR6 VPS53_HUMAN Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA. 649 protein transport Golgi apparatus|endosome membrane breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1) 19 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) ATGATGGGGACGTTCTGCTTG 0.527000 12 13 0 0 0.000219431 0 0 AK057473 0 broad.mit.edu 37 17 20805809 20805809 + RNA SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:20805809C>T uc002gyg.1 + 3 c.993C>T AK057473_uc002gyh.1_Non-coding_Transcript Homo sapiens cDNA FLJ32911 fis, clone TESTI2006210. TGTTGATTTTCCTGCCCTTCT 0.512000 7 22 0 0 0.000295444 0 0 CCDC111 201973 broad.mit.edu 37 4 185615812 185615812 + Missense_Mutation SNP A C C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr4:185615812A>C uc003iwk.2 + 13 1995 c.1562A>C c.(1561-1563)tAt>tCt p.Y521S CCDC111_uc003iwj.2_Missense_Mutation_p.Y520S|CCDC111_uc003iwm.2_Missense_Mutation_p.Y392S|CCDC111_uc003iwn.2_Missense_Mutation_p.Y261S|MLF1IP_uc003iwp.3_Non-coding_Transcript|MLF1IP_uc003iwq.3_3'UTR NM_152683 NP_689896 Q96LW4 CC111_HUMAN Homo sapiens coiled-coil domain containing 111 (CCDC111), mRNA. 521 DNA replication, synthesis of RNA primer DNA primase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2) 16 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131) all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173) GATGATGCTTATTTTTTAGAA 0.413000 35 12 0 0 0.000978159 0 0 ARAP3 64411 broad.mit.edu 37 5 141051754 141051754 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:141051754G>A uc003llm.3 - 9 1578 c.1500C>T c.(1498-1500)gcC>gcT p.A500A ARAP3_uc011dbe.2_Silent_p.A162A|ARAP3_uc003lln.3_Silent_p.A422A|ARAP3_uc003llo.1_Silent_p.A500A NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA. 500 Arf-GAP. cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 ACTGCCGGTTGGCCCGATTAG 0.622000 52 25 0 0 0.000586117 0 0 PLSCR2 57047 broad.mit.edu 37 3 146166996 146166996 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:146166996G>A uc021xfa.1 - 7 1301 c.861C>T c.(859-861)ctC>ctT p.L287L PLSCR2_uc003evw.2_Silent_p.L283L|PLSCR2_uc003evv.2_Silent_p.L214L NM_001199978 NP_001186907 Q9NRY7 PLS2_HUMAN Homo sapiens phospholipid scramblase 2 (PLSCR2), transcript variant 1, mRNA. 214 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity endometrium(2)|large_intestine(5)|lung(7)|stomach(1) 15 GACTTACAATGAGGAAACAGG 0.348000 58 41 0 0 0.000509022 0 0 SEMA4F 10505 broad.mit.edu 37 2 74907289 74907289 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:74907289C>T uc002sna.1 + 13 2377 c.2266C>T c.(2266-2268)Cgg>Tgg p.R756W SEMA4F_uc010ffr.1_Missense_Mutation_p.R368W|SEMA4F_uc002snb.1_Missense_Mutation_p.R368W|SEMA4F_uc002snc.1_Missense_Mutation_p.R601W NM_004263 NP_004254 O95754 SEM4F_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA. 756 cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 AGCCCACATTCGGCTAACTGG 0.557000 69 10 0 0 0.000978159 0 0 GPR98 84059 broad.mit.edu 37 5 90000297 90000297 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:90000297G>A uc003kju.3 + 35 8474 c.8378G>A c.(8377-8379)aGg>aAg p.R2793K GPR98_uc003kjt.3_Missense_Mutation_p.R499K|GPR98_uc003kjv.3_Missense_Mutation_p.R393K NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 2793 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TATGATGTCAGGACACAAGGT 0.303000 3 4 0 0 0.00024832 0 0 OR5R1 219479 broad.mit.edu 37 11 56185123 56185123 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:56185123C>T uc010rji.2 - 0 586 c.586G>A c.(586-588)Gaa>Aaa p.E196K OR8U8_uc001nit.2_Intron NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA. 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E196K(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) ATCAGAATTTCCTTCATGTGT 0.433000 20 14 0 0 0.000151284 0 0 RGS22 26166 broad.mit.edu 37 8 101014456 101014456 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr8:101014456G>A uc003yjb.1 - 17 2959 c.2764C>T c.(2764-2766)Cca>Tca p.P922S RGS22_uc003yja.1_Missense_Mutation_p.P741S|RGS22_uc003yjc.1_Missense_Mutation_p.P910S|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.P311S|SNORD77_uc022azg.1_5'Flank NM_015668 NP_056483 Q8NE09 RGS22_HUMAN Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA. 922 RGS 1. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AGAGAAGCTGGACTGTTGGGT 0.323000 45 19 0 0 0.000295444 0 0 CCDC71 64925 broad.mit.edu 37 3 49200991 49200991 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:49200991C>T uc003cwg.4 - 1 789 c.651G>A c.(649-651)ggG>ggA p.G217G CCDC71_uc021wxs.1_Silent_p.G217G NM_022903 NP_075054 Q8IV32 CCD71_HUMAN Homo sapiens coiled-coil domain containing 71 (CCDC71), mRNA. 217 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) CCGGACCCTTCCCTGAACTTT 0.592000 63 44 0 0 0.000781405 0 0 SDK2 54549 broad.mit.edu 37 17 71380034 71380034 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:71380034G>A uc010dfm.3 - 32 4686 c.4686C>T c.(4684-4686)gcC>gcT p.A1562A SDK2_uc002jjt.4_Silent_p.A721A|SDK2_uc010dfn.2_Silent_p.A1241A NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 1562 Fibronectin type-III 10. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 CAGCCCATGTGGCCCCTGGGT 0.602000 55 21 0 0 0.000586117 0 0 ZNF33A 7581 broad.mit.edu 37 10 38345158 38345158 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:38345158C>T uc010qev.2 + 3 2228 c.2124C>T c.(2122-2124)ttC>ttT p.F708F ZNF33A_uc001izg.3_Silent_p.F702F|ZNF33A_uc001izh.3_Silent_p.F701F|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Silent_p.F702F NM_006974 NP_008905 Q06730 ZN33A_HUMAN Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA. 701 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 GGAAATTCTTCAGGCACAAAT 0.393000 18 25 0 0 0.00047179 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46057641 46057641 + Missense_Mutation SNP G A A rs68027322 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr21:46057641G>A uc002zfq.3 + 0 369 c.307G>A c.(307-309)Gtc>Atc p.V103I TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_181688 NP_859016 P60014 KR10A_HUMAN Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA. 103 15 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 ctgtgtgcccgtctgctgcgt 0.622000 41 40 0 0 0.000319135 0 0 USP4 7375 broad.mit.edu 37 3 49331918 49331919 + Missense_Mutation DNP CC AA AA TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:49331918_49331919CC>AA uc003cwq.2 - 13 1883_1884 c.1804_1805GG>TT c.(1804-1806)ggg>TTg p.G602L USP4_uc003cwp.2_Missense_Mutation_p.G332L|USP4_uc003cwr.2_Missense_Mutation_p.G555L NM_003363 NP_003354 Q13107 UBP4_HUMAN Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA. 602 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) TAGTGGCTGCCCATATAGCGCT 0.515000 86 7 0 0 6.4e-05 0 0 LOC644936 644936 broad.mit.edu 37 5 79595817 79595817 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:79595817C>T uc010jai.3 - 0 481 c.340G>A c.(340-342)Gaa>Aaa p.E114K Homo sapiens actin, beta pseudogene (LOC644936), non-coding RNA. CCACAGGATTCCATGCCCACG 0.522000 13 8 0 0 0.000157383 0 0 X97876 0 broad.mit.edu 37 9 66499794 66499794 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:66499794C>T uc004aee.1 + 0 604 c.604C>T c.(604-606)Cgc>Tgc p.R202C X97876_uc004aed.1_Non-coding_Transcript Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). GTGCAAGTCGCGCAAGGAGCA 0.587000 53 9 0 0 0.00010058 0 0 NLRP7 199713 broad.mit.edu 37 19 55451704 55451704 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:55451704C>T uc002qih.4 - 3 559 c.483G>A c.(481-483)ttG>ttA p.L161L NLRP7_uc010esk.3_Silent_p.L161L|NLRP7_uc002qig.4_Silent_p.L161L|NLRP7_uc002qii.4_Silent_p.L161L|NLRP7_uc010esl.3_Silent_p.L189L NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 161 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TTCTGGGATTCAAGAATGGAA 0.507000 82 84 0 0 0.000781405 0 0 DDX42 11325 broad.mit.edu 37 17 61889322 61889322 + Missense_Mutation SNP A G G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:61889322A>G uc002jbu.3 + 14 1686 c.1429A>G c.(1429-1431)Att>Gtt p.I477V DDX42_uc002jbv.3_Missense_Mutation_p.I477V|DDX42_uc002jbw.1_Missense_Mutation_p.I213V|DDX42_uc002jbx.3_Missense_Mutation_p.I213V|DDX42_uc002jby.3_Missense_Mutation_p.I23V NM_007372 NP_987095 Q86XP3 DDX42_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA. 477 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 GATTGTGGAGATTCTCCATTC 0.453000 368 38 0 0 0.000953801 0 0 ZNF518B 85460 broad.mit.edu 37 4 10445449 10445449 + Missense_Mutation SNP A G G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr4:10445449A>G uc003gmn.3 - 2 2991 c.2504T>C c.(2503-2505)aTg>aCg p.M835T ZNF518B_uc021xme.1_Missense_Mutation_p.M835T NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN Homo sapiens zinc finger protein 518B (ZNF518B), mRNA. 835 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 ATTTGGGGACATATCTATTGG 0.458000 19 70 0 0 0.000781405 0 0 GNE 10020 broad.mit.edu 37 9 36233983 36233983 + Nonsense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:36233983G>A uc010mlh.3 - 4 1137 c.916C>T c.(916-918)Cga>Tga p.R306* GNE_uc010mlg.3_Nonsense_Mutation_p.R306*|GNE_uc011lpl.2_Nonsense_Mutation_p.R196*|GNE_uc010mli.3_Nonsense_Mutation_p.R337*|GNE_uc010mlj.3_Nonsense_Mutation_p.R301* NM_005476 NP_005467 Q9Y223 GLCNE_HUMAN Homo sapiens glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE), transcript variant 2, mRNA. 306 R -> Q (in NM). N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process|cell adhesion|lipopolysaccharide biosynthetic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 STAD - Stomach adenocarcinoma(86;0.228) CCAACTTCTCGAACCCCACAG 0.463000 66 74 0 0 0.000781405 0 0 SLC25A42 284439 broad.mit.edu 37 19 19206977 19206977 + Missense_Mutation SNP A C C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:19206977A>C uc002nlf.2 + 1 200 c.44A>C c.(43-45)gAt>gCt p.D15A SLC25A42_uc010xqn.1_Missense_Mutation_p.D67A NM_178526 NP_848621 Q86VD7 S2542_HUMAN Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA. 15 transmembrane transport integral to membrane|mitochondrial inner membrane binding cervix(1)|large_intestine(2)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497) TTGCATGAGGATGCTGAGGCT 0.642000 13 9 0 0 0.000978159 0 0 TSSC4 10078 broad.mit.edu 37 11 2424493 2424493 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:2424493G>A uc021qcg.1 + 0 630 c.630G>A c.(628-630)gaG>gaA p.E210E TSSC4_uc001lwi.3_Silent_p.E146E|TSSC4_uc001lwk.3_Silent_p.E210E|TSSC4_uc001lwl.3_Silent_p.E210E NM_005706 NP_005697 Q9Y5U2 TSSC4_HUMAN Homo sapiens tumor suppressing subtransferable candidate 4 (TSSC4), mRNA. 210 endometrium(3)|large_intestine(1)|lung(4) 8 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTGTGGGGAGGGGAGGGTCA 0.662000 182 111 0 0 0.000781405 0 0 CEP350 9857 broad.mit.edu 37 1 180068003 180068003 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:180068003C>T uc001gnt.3 + 36 9455 c.9072C>T c.(9070-9072)ttC>ttT p.F3024F CEP350_uc009wxl.2_Silent_p.F3023F|CEP350_uc001gnv.3_Silent_p.F1159F|CEP350_uc001gnw.1_Silent_p.F781F|CEP350_uc001gnx.1_Silent_p.F781F NM_014810 NP_055625 Q5VT06 CE350_HUMAN Homo sapiens centrosomal protein 350kDa (CEP350), mRNA. 3024 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 CACAGAGCTTCATAGCAAGTG 0.353000 38 8 0 0 0.000442599 0 0 DNAH5 1767 broad.mit.edu 37 5 13920716 13920716 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:13920716C>T uc003jfd.2 - 5 713 c.671G>A c.(670-672)cGa>cAa p.R224Q DNAH5_uc003jfe.1_Non-coding_Transcript NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 224 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R224Q(4) 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) GTCACACTTTCGAAGGTTCAC 0.393000 Kartagener syndrome 58 46 0 0 0.000589545 0 0 TINF2 26277 broad.mit.edu 37 14 24711504 24711504 + Missense_Mutation SNP A T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr14:24711504A>T uc001woa.4 - 0 377 c.35T>A c.(34-36)cTa>cAa p.L12Q TINF2_uc010alm.3_5'Flank|TINF2_uc001wob.4_Missense_Mutation_p.L12Q|TINF2_uc010tof.2_Missense_Mutation_p.L12Q|TINF2_uc001woc.4_Missense_Mutation_p.L12Q NM_001099274 NP_001092744 Q9BSI4 TINF2_HUMAN Homo sapiens TERF1 (TRF1)-interacting nuclear factor 2 (TINF2), transcript variant 1, mRNA. 12 negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter protein binding|telomeric DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(265;0.0185) GGCGAAGCGTAGAGCTGCGGG 0.687000 Congenital Dyskeratosis;Ataxia Pancytopenia syndrome OREG0022621 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 8 0 0 0.000157383 0 0 OR51E2 81285 broad.mit.edu 37 11 4703441 4703441 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:4703441G>A uc001lzk.2 - 1 745 c.501C>T c.(499-501)ttC>ttT p.F167F OR51E2_uc021qcr.1_Silent_p.F167F NM_030774 NP_110401 Q9H255 O51E2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA. 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A166A(1) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) TGGAGTGGCAGAAGGCCAGCC 0.512000 57 17 0 0 0.00074312 0 0 COL20A1 57642 broad.mit.edu 37 20 61957455 61957455 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:61957455G>A uc011aau.2 + 29 3510 c.3410G>A c.(3409-3411)aGa>aAa p.R1137K COL20A1_uc011aav.2_Missense_Mutation_p.R958K NM_020882 NP_065933 Q9P218 COKA1_HUMAN Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA. 1137 Collagen-like 2. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) CAGGGAATGAGAGGCCTGGAG 0.657000 63 14 0 0 0.00074312 0 0 HHATL 57467 broad.mit.edu 37 3 42735116 42735116 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:42735116C>T uc003clw.3 - 10 1388 c.1241G>A c.(1240-1242)cGa>cAa p.R414Q HHATL_uc003clx.3_Missense_Mutation_p.R414Q NM_020707 NP_065758 Q9HCP6 HHATL_HUMAN Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA. 414 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) CACCTCAATTCGTGCTAGGGG 0.577000 10 10 0 0 0.00010058 0 0 KCNH7 90134 broad.mit.edu 37 2 163374414 163374414 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:163374414G>A uc002uch.2 - 3 947 c.718C>T c.(718-720)Ccc>Tcc p.P240S KCNH7_uc002uci.3_Missense_Mutation_p.P240S NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA. 240 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TGCCTTTTGGGAGAGGAATGG 0.498000 8 5 0 0 3.59834e-05 0 0 IQGAP2 10788 broad.mit.edu 37 5 76003063 76003063 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:76003063G>A uc003kek.3 + 35 4875 c.4653G>A c.(4651-4653)atG>atA p.M1551I IQGAP2_uc011csv.2_Missense_Mutation_p.M1047I|IQGAP2_uc003kel.3_Missense_Mutation_p.M1047I NM_006633 NP_006624 Q13576 IQGA2_HUMAN Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA. 1551 small GTPase mediated signal transduction actin cytoskeleton GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) TAGCTGTAATGAAAATGTTTG 0.308000 30 7 0 0 0.000157383 0 0 OS9 10956 broad.mit.edu 37 12 58114030 58114030 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:58114030G>A uc001spj.3 + 12 1956 c.1749G>A c.(1747-1749)gaG>gaA p.E583E OS9_uc010srx.2_Intron|OS9_uc001spk.3_Silent_p.E568E|OS9_uc001spl.3_Intron|OS9_uc001spm.3_Intron|OS9_uc001spn.3_Intron|OS9_uc010sry.2_Intron|OS9_uc010srz.2_Intron NM_006812 NP_006803 Q13438 OS9_HUMAN Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA. 583 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress Hrd1p ubiquitin ligase complex|endoplasmic reticulum lumen glycoprotein binding|protein binding|sugar binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 21 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) TGGAGAGGGAGGGACTCACAG 0.632000 30 18 0 0 0.000132079 0 0 HEG1 57493 broad.mit.edu 37 3 124689608 124689609 + Missense_Mutation DNP CC TT TT TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:124689608_124689609CC>TT uc011bke.2 - 17 4401_4402 c.4333_4334GG>AA c.(4333-4335)gga>AAa p.G1445K HEG1_uc003ehr.4_Missense_Mutation_p.G199K|HEG1_uc003ehs.4_Missense_Mutation_p.G1345K NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA. 1345 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 CGGGTAGAGTCCGTTTCGTTCA 0.436000 8 5 0 0 6.4e-05 0 0 NELL1 4745 broad.mit.edu 37 11 21135260 21135260 + Splice_Site SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:21135260G>A uc009yid.3 + 14 1663 c.1510_splice c.e14+1 p.E504_splice NELL1_uc010rdp.2_Splice_Site_p.E236_splice|NELL1_uc001mqe.3_Splice_Site_p.E476_splice|NELL1_uc001mqf.3_Splice_Site_p.E476_splice|NELL1_uc010rdo.2_Splice_Site_p.E419_splice NM_006157 NP_006148 Q92832 NELL1_HUMAN Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA. 476 EGF-like 3. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 CTCTTGTACAGGTGAGCTTTA 0.393000 28 13 0 0 0.000219431 0 0 MXRA5 25878 broad.mit.edu 37 X 3241141 3241141 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chrX:3241141C>T uc004crg.4 - 4 2742 c.2585G>A c.(2584-2586)aGc>aAc p.S862N NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 862 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TAGCCCCATGCTGGCTGAGGA 0.473000 4 40 0 0 0.000270559 0 0 SMARCA2 6595 broad.mit.edu 37 9 2039779 2039779 + Silent SNP G A A rs113070757 byFrequency TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:2039779G>A uc003zhc.3 + 3 768 c.669G>A c.(667-669)caG>caA p.Q223Q SMARCA2_uc003zhd.3_Silent_p.Q223Q|SMARCA2_uc010mha.3_Silent_p.Q214Q NM_003070 NP_003061 P51531 SMCA2_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA. 223 Poly-Gln. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) agcagcaacagcagcagcagc 0.642000 13 3 0 0 6.4e-05 0 0 ANO2 57101 broad.mit.edu 37 12 5687593 5687593 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:5687593G>A uc001qnm.2 - 21 2397 c.2325C>T c.(2323-2325)ctC>ctT p.L775L NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN Homo sapiens anoctamin 2 (ANO2), mRNA. 780 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity p.V774V(1) central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 TCTTTGCATCGAGCCGCACTT 0.542000 36 21 0 0 0.000375601 0 0 MUC16 94025 broad.mit.edu 37 19 8987332 8987332 + Missense_Mutation SNP C A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:8987332C>A uc002mkp.3 - 67 41959 c.41755G>T c.(41755-41757)Ggg>Tgg p.G13919W MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.G736W|MUC16_uc021uog.1_Non-coding_Transcript NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13922 Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGACCACCCCGGCTAGGGCA 0.597000 17 18 3.8784e-16 4.02299e-15 0.000229342 1 0 PEAK1 79834 broad.mit.edu 37 15 77425888 77425888 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:77425888C>T uc021sqy.1 - 6 4112 c.3536G>A c.(3535-3537)aGt>aAt p.S1179N NM_024776 NP_079052 Q9H792 PEAK1_HUMAN Homo sapiens NKF3 kinase family member (PEAK1), mRNA. 1179 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding GACACAAAGACTACTTTCCAT 0.473000 126 19 0 0 0.000958276 0 0 BAI2 576 broad.mit.edu 37 1 32221987 32221987 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:32221987G>A uc001btn.3 - 3 805 c.451C>T c.(451-453)Ctg>Ttg p.L151L BAI2_uc010ogp.2_Silent_p.L139L|BAI2_uc010ogq.2_Silent_p.L151L|BAI2_uc001bto.3_Silent_p.L151L|BAI2_uc001btq.1_Silent_p.L139L|BAI2_uc010ogr.1_Silent_p.L139L NM_001703 NP_001694 O60241 BAI2_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA. 151 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) TCGAAGTGCAGGAAGGTAAAG 0.687000 10 13 0 0 0.00010058 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200817884 200817884 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:200817884C>T uc001gvl.3 + 11 2290 c.2020C>T c.(2020-2022)Cct>Tct p.P674S CAMSAP2_uc001gvk.3_Missense_Mutation_p.P663S|CAMSAP2_uc001gvm.3_Missense_Mutation_p.P647S NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA. 674 cytoplasm|microtubule protein binding AGCTTTGAGTCCTTGTCCAAG 0.418000 20 45 0 0 0.000680045 0 0 COL4A2 1284 broad.mit.edu 37 13 111142066 111142067 + Nonsense_Mutation DNP GG TA TA TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr13:111142066_111142067GG>TA uc001vqx.3 + 35 3569_3570 c.3280_3281GG>TA c.(3280-3282)ggg>TAg p.G1094* NM_001846 NP_001837 P08572 CO4A2_HUMAN Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA. 1094 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) AGGTGACATCGGGGACACTATA 0.441000 29 54 0 0 6.4e-05 0 0 CUZD1 50624 broad.mit.edu 37 10 124598677 124598677 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:124598677G>A uc001lgs.3 - 4 1255 c.304C>T c.(304-306)Ctg>Ttg p.L102L CUZD1_uc001lgp.3_5'Flank|CUZD1_uc009yad.3_5'Flank|CUZD1_uc009yaf.3_Intron|CUZD1_uc001lgr.3_5'UTR|CUZD1_uc010qty.2_5'UTR|CUZD1_uc009yae.3_5'UTR|CUZD1_uc010qtz.2_Silent_p.L102L NM_022034 NP_071317 Q86UP6 CUZD1_HUMAN Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA. 102 CUB 1. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) TGCCCTAGCAGAGGCCCATTG 0.418000 107 36 0 0 0.000228196 0 0 ZNF335 63925 broad.mit.edu 37 20 44592393 44592393 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:44592393C>T uc002xqw.3 - 7 1462 c.1339G>A c.(1339-1341)Ggc>Agc p.G447S ZNF335_uc010zxk.2_Missense_Mutation_p.G292S NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN Homo sapiens zinc finger protein 335 (ZNF335), mRNA. 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G447G(1) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) TATTTCTTGCCTAGGAAGCGC 0.607000 148 53 0 0 0.000781405 0 0 ZNF551 90233 broad.mit.edu 37 19 58265665 58265665 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:58265665C>T uc002qpx.3 + 2 1390 c.1167C>T c.(1165-1167)tcC>tcT p.S389S ZNF587_uc002qqb.2_Intron|ZNF551_uc002qqa.3_Silent_p.S389S NM_173632 NP_775903 Q7Z340 ZN551_HUMAN Homo sapiens zinc finger protein 776 (ZNF776), mRNA. 404 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GGAGCAACTCCCACCTAAAGG 0.443000 17 28 0 0 0.00106085 0 0 CLEC4M 10332 broad.mit.edu 37 19 7830630 7830630 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:7830630C>T uc010dvt.3 + 3 439 c.321C>T c.(319-321)tcC>tcT p.S107S CLEC4M_uc010xjv.1_Silent_p.S79S|CLEC4M_uc002mhy.2_Silent_p.S51S|CLEC4M_uc002mih.3_Silent_p.S107S|CLEC4M_uc010xjw.2_Silent_p.S86S|CLEC4M_uc010dvs.3_Silent_p.S106S|CLEC4M_uc010xjx.2_Silent_p.S79S|CLEC4M_uc002mhz.3_Silent_p.S107S|CLEC4M_uc002mic.3_Silent_p.S79S|CLEC4M_uc002mia.3_Silent_p.S86S NM_001144909 NP_001138381 Q9H2X3 CLC4M_HUMAN Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA. 107 cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 CAGAGAAATCCAAGCTGCAGG 0.552000 45 39 0 0 0.000781405 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869541 36869541 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:36869541G>A uc002xhy.1 - 2 1264 c.992C>T c.(991-993)tCc>tTc p.S331F KIAA1755_uc002xhz.1_Missense_Mutation_p.S331F NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN Homo sapiens KIAA1755 (KIAA1755), mRNA. 331 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) ATTTCCCAAGGAAGGTCCTTC 0.488000 227 106 0 0 0.000781405 0 0 SORCS3 22986 broad.mit.edu 37 10 106918692 106918692 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:106918692C>T uc001kyi.1 + 10 1899 c.1672C>T c.(1672-1674)Cca>Tca p.P558S NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 558 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CTCTGAAAATCCATATTCCTC 0.448000 42 10 0 0 0.000151284 0 0 ACSL6 23305 broad.mit.edu 37 5 131309057 131309057 + Missense_Mutation SNP A G G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:131309057A>G uc003kvx.2 - 11 1214 c.1105T>C c.(1105-1107)Ttc>Ctc p.F369L ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Missense_Mutation_p.F334L|ACSL6_uc003kvy.2_Missense_Mutation_p.F369L|ACSL6_uc003kvz.2_Intron|ACSL6_uc021ydh.1_Intron|ACSL6_uc010jdo.2_Missense_Mutation_p.F344L|ACSL6_uc003kwa.2_Missense_Mutation_p.F355L|ACSL6_uc003kvw.2_5'UTR|ACSL6_uc010jdn.2_Missense_Mutation_p.F359L|ACSL6_uc010jdp.1_Non-coding_Transcript NM_015256 NP_001192177 Q9UKU0 ACSL6_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA. 344 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCTCCCTGGAAGAAGCCAACA 0.547000 24 11 0 0 0.000151284 0 0 MED12L 116931 broad.mit.edu 37 3 151075068 151075068 + Missense_Mutation SNP A C C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:151075068A>C uc003eyp.3 + 17 2753 c.2624A>C c.(2623-2625)tAt>tCt p.Y875S MED12L_uc011bnz.2_Missense_Mutation_p.Y735S|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.Y39S NM_053002 NP_443728 Q86YW9 MD12L_HUMAN Homo sapiens mediator complex subunit 12-like (MED12L), mRNA. 875 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGGAAGTTATACAACAGGA 0.448000 41 11 0 0 0.000978159 0 0 RAPSN 5913 broad.mit.edu 37 11 47469652 47469652 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:47469652G>A uc001nfi.2 - 1 457 c.243C>T c.(241-243)ttC>ttT p.F81F RAPSN_uc001nfj.2_Silent_p.F81F|RAPSN_uc009yls.1_Silent_p.F81F NM_005055 NP_005046 Q13702 RAPSN_HUMAN Homo sapiens receptor-associated protein of the synapse (RAPSN), transcript variant 1, mRNA. 81 F -> L (in dbSNP:rs57878668). synaptic transmission, cholinergic cell junction|cytoskeleton|postsynaptic membrane acetylcholine receptor binding|zinc ion binding p.D80H(1) endometrium(1)|large_intestine(3)|lung(6)|ovary(2) 12 TCTCCAGGAGGAAGTCGGCAT 0.612000 31 6 0 0 3.59834e-05 0 0 C2orf78 388960 broad.mit.edu 37 2 74041260 74041260 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:74041260G>A uc002sjr.1 + 1 875 c.754G>A c.(754-756)Gag>Aag p.E252K NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA. 252 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 GGTGCTGAAGGAGGTTCAGCC 0.483000 93 16 0 0 0.000308642 0 0 KIDINS220 57498 broad.mit.edu 37 2 8940625 8940625 + Missense_Mutation SNP C A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:8940625C>A uc002qzc.2 - 8 987 c.805G>T c.(805-807)Ggg>Tgg p.G269W KIDINS220_uc010yiv.1_Missense_Mutation_p.G35W|KIDINS220_uc002qzd.2_Missense_Mutation_p.G227W|KIDINS220_uc010yiw.1_Missense_Mutation_p.G270W NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA. 269 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ACAGTATCCCCACTCTAAGAA 0.343000 268 9 6.40141e-05 0.000650889 0.000978159 1 0 KIAA1217 56243 broad.mit.edu 37 10 24790328 24790328 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:24790328G>A uc001iru.4 + 8 2258 c.1855G>A c.(1855-1857)Ggg>Agg p.G619R KIAA1217_uc001irs.3_Missense_Mutation_p.G539R|KIAA1217_uc001irt.4_Missense_Mutation_p.G584R|KIAA1217_uc010qcy.2_Missense_Mutation_p.G584R|KIAA1217_uc010qcz.2_Missense_Mutation_p.G584R|KIAA1217_uc001irv.1_Missense_Mutation_p.G434R|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.G302R|KIAA1217_uc001irz.3_Missense_Mutation_p.G302R|KIAA1217_uc001irx.3_Missense_Mutation_p.G302R|KIAA1217_uc001iry.3_Missense_Mutation_p.G302R NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 619 embryonic skeletal system development cytoplasm p.G619G(1) breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 TGTGTCTGGTGGGAAGATGCT 0.557000 31 6 0 0 3.59834e-05 0 0 USP9X 8239 broad.mit.edu 37 X 41000634 41000634 + Nonsense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chrX:41000634C>T uc004dfb.3 + 8 1744 c.1111C>T c.(1111-1113)Cga>Tga p.R371* USP9X_uc004dfc.3_Nonsense_Mutation_p.R371* NM_001039590 NP_001034679 Q93008 USP9X_HUMAN Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA. 371 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 CTATACTCATCGACATGGTAA 0.358000 3 6 0 0 3.59834e-05 0 0 OTUD7A 161725 broad.mit.edu 37 15 31793901 31793901 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:31793901C>T uc001zfq.3 - 7 1235 c.1142G>A c.(1141-1143)aGa>aAa p.R381K OTUD7A_uc001zfr.3_Missense_Mutation_p.R388K NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN Homo sapiens OTU domain containing 7A (OTUD7A), mRNA. 381 Catalytic (By similarity).|TRAF-binding (By similarity). cytoplasm|nucleus DNA binding|cysteine-type peptidase activity|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) ACCTTGTTCTCTTTGCTGGTC 0.577000 50 11 0 0 0.00010058 0 0 APCS 325 broad.mit.edu 37 1 159558413 159558413 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:159558413C>T uc001ftv.3 + 1 683 c.587C>T c.(586-588)cCt>cTt p.P196L NM_001639 NP_001630 P02743 SAMP_HUMAN Homo sapiens amyloid P component, serum (APCS), mRNA. 196 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding p.T195P(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) CAGGGTACCCCTCTCCCTGCC 0.502000 14 19 0 0 0.000175454 0 0 RSPH3 83861 broad.mit.edu 37 6 159398873 159398873 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:159398873G>A uc003qrx.3 - 7 1570 c.1380C>T c.(1378-1380)atC>atT p.I460I RSPH3_uc010kju.3_Silent_p.I364I NM_031924 NP_114130 Q86UC2 RSPH3_HUMAN Homo sapiens radial spoke 3 homolog (Chlamydomonas) (RSPH3), mRNA. 460 p.I460I(2) endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7) 23 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) CCACCTCACGGATCAACACTG 0.408000 34 53 0 0 0.000781405 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217279882 217279882 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:217279882C>T uc002vgc.4 + 2 785 c.455C>T c.(454-456)cCt>cTt p.P152L SMARCAL1_uc002vgd.4_Missense_Mutation_p.P152L|SMARCAL1_uc010fvg.3_Missense_Mutation_p.P152L NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA. 152 DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CAGGCTTCACCTGAGATCAGG 0.512000 Schimke Immuno-Osseous Dysplasia 43 131 0 0 0.000781405 0 0 DDX3X 1654 broad.mit.edu 37 X 41204721 41204721 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chrX:41204721C>T uc004dfe.3 + 11 2090 c.1235C>T c.(1234-1236)tCt>tTt p.S412F DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Missense_Mutation_p.S412F|DDX3X_uc011mkq.2_Missense_Mutation_p.S396F|DDX3X_uc011mkr.2_Intron|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript NM_001356 NP_001347 O00571 DDX3X_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA. 412 Necessary for interaction with XPO1. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding p.S412F(4) NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 GGCTCTACCTCTGAAAACATC 0.353000 HNSCC(61;0.18) 13 40 0 0 0.000781405 0 0 USP44 84101 broad.mit.edu 37 12 95927253 95927253 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:95927253G>A uc001teg.3 - 1 924 c.780C>T c.(778-780)tcC>tcT p.S260S USP44_uc001teh.3_Silent_p.S260S|USP44_uc009zte.3_Silent_p.S257S NM_001042403 NP_115523 Q9H0E7 UBP44_HUMAN Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA. 260 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 GTTTAACTGAGGAGTCACTGA 0.393000 72 26 0 0 0.000279167 0 0 PHF21A 51317 broad.mit.edu 37 11 46001479 46001479 + Silent SNP T G G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:46001479T>G uc001ncc.4 - 5 816 c.192A>C c.(190-192)gtA>gtC p.V64V PHF21A_uc001ncb.4_Silent_p.V64V|PHF21A_uc009ykx.3_Silent_p.V64V|PHF21A_uc001nce.2_Silent_p.V64V NM_001101802 NP_001095272 Q96BD5 PF21A_HUMAN Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA. 64 Gln-rich. blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 GTTCTTGCTTTACTATCAGGT 0.388000 78 21 0 0 0.000375601 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47548050 47548050 + Missense_Mutation SNP C T T rs146576339 byFrequency TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:47548050C>T uc001cqu.1 + 3 412 c.409C>T c.(409-411)Cgc>Tgc p.R137C NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA. 137 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 GAAAAAGCACCGCCAGATTGT 0.448000 15 24 0 0 0.000586117 0 0 OGDHL 55753 broad.mit.edu 37 10 50959932 50959932 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:50959932C>T uc009xog.3 - 4 805 c.771G>A c.(769-771)gtG>gtA p.V257V OGDHL_uc001jie.3_Silent_p.V230V|OGDHL_uc010qgt.2_Silent_p.V173V|OGDHL_uc010qgu.2_Silent_p.V21V|OGDHL_uc009xoh.2_Silent_p.V21V NM_001143997 NP_001137469 Q9ULD0 OGDHL_HUMAN Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 230 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 AGAACTGCATCACACCAGGGG 0.602000 60 54 0 0 0.000781405 0 0 NPY 4852 broad.mit.edu 37 7 24325033 24325033 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:24325033C>T uc003sww.2 + 1 262 c.174C>T c.(172-174)ctC>ctT p.L58L NM_000905 NP_000896 P01303 NPY_HUMAN Homo sapiens neuropeptide Y (NPY), mRNA. 58 G-protein signaling, coupled to cyclic nucleotide second messenger|adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission cell|extracellular space G-protein coupled receptor activity|calcium channel regulator activity|neuropeptide hormone activity breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 9 ACATCAACCTCATCACCAGGC 0.637000 12 11 0 0 0.00010058 0 0 PIF1 80119 broad.mit.edu 37 15 65108888 65108888 + Missense_Mutation SNP C G G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:65108888C>G uc002ant.2 - 11 1817 c.1751G>C c.(1750-1752)cGg>cCg p.R584P PIF1_uc002anr.2_Missense_Mutation_p.R132P|PIF1_uc002ans.2_Missense_Mutation_p.R275P|PIF1_uc010uiq.1_Missense_Mutation_p.R584P NM_025049 NP_079325 Q9H611 PIF1_HUMAN Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA. 584 Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity. negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding kidney(1)|lung(1) 2 GCTGCGGGCCCGAGAAAGGGC 0.642000 56 13 0 0 0.000151284 0 0 CHD5 26038 broad.mit.edu 37 1 6181563 6181563 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:6181563C>T uc001amb.2 - 31 4881 c.4770G>A c.(4768-4770)ctG>ctA p.L1590L CHD5_uc001alz.2_Silent_p.L447L|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA. 1590 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CCTGGACTTCCAGGGGCTGCC 0.587000 6 19 0 0 0.000175454 0 0 BMP5 653 broad.mit.edu 37 6 55625290 55625290 + Missense_Mutation SNP C T T rs147691986 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:55625290C>T uc003pcq.3 - 4 1781 c.1069G>A c.(1069-1071)Gaa>Aaa p.E357K BMP5_uc011dxf.2_Missense_Mutation_p.E357K NM_021073 NP_066551 P22003 BMP5_HUMAN Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA. 357 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) ACATAGAGTTCGTGCTTCTTA 0.348000 11 19 0 0 0.000175454 0 0 ZFP90 146198 broad.mit.edu 37 16 68597607 68597607 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr16:68597607G>A uc010cff.3 + 4 1209 c.917G>A c.(916-918)gGa>gAa p.G306E ZFP90_uc002ewb.3_Missense_Mutation_p.E112K|ZFP90_uc002ewc.3_Missense_Mutation_p.E112K|ZFP90_uc002ewd.3_Missense_Mutation_p.G306E|ZFP90_uc002ewe.3_Missense_Mutation_p.G306E NM_133458 NP_597715 Q8TF47 ZFP90_HUMAN Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA. 306 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) GCTCATACCGGAGAGAAACCC 0.493000 20 15 0 0 0.000132079 0 0 LRP1B 53353 broad.mit.edu 37 2 141460004 141460004 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:141460004C>T uc002tvj.1 - 37 7114 c.6142G>A c.(6142-6144)Gac>Aac p.D2048N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 2048 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACCTCATAGTCGATGGAGATG 0.398000 TSP Lung(27;0.18) 15 4 0 0 0.00024832 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140710468 140710468 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:140710468C>T uc003lji.2 + 0 217 c.217C>T c.(217-219)Ccg>Tcg p.P73S PCDHGC5_uc011dan.2_Missense_Mutation_p.P73S NM_018912 NP_061735 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA. 73 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTAGGATGCCGCTTTTCGC 0.587000 46 48 0 0 0.000781405 0 0 PCK1 5105 broad.mit.edu 37 20 56139563 56139563 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:56139563G>A uc002xyn.4 + 7 1375 c.1212G>A c.(1210-1212)tcG>tcA p.S404S PCK1_uc010zzm.2_Silent_p.S87S NM_002591 NP_002582 P35558 PCKGC_HUMAN Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA. 404 Substrate binding. gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) ACCCCAACTCGAGGTTCTGCA 0.587000 94 37 0 0 0.00111076 0 0 NYAP2 57624 broad.mit.edu 37 2 226446804 226446804 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:226446804G>A uc002voe.2 + 3 846 c.671G>A c.(670-672)cGg>cAg p.R224Q NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_5'UTR NM_020864 NP_065915 Q9P242 K1486_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA. 224 TCGCTGCCGCGGGACTCCTCC 0.592000 298 32 0 0 0.000409698 0 0 DMBT1 1755 broad.mit.edu 37 10 124395627 124395627 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:124395627C>T uc001lgk.1 + 49 6388 c.6282C>T c.(6280-6282)ttC>ttT p.F2094F DMBT1_uc001lgl.1_Silent_p.F2084F|DMBT1_uc001lgm.1_Silent_p.F1466F|DMBT1_uc021qaf.1_Silent_p.F2094F|DMBT1_uc021qag.1_Silent_p.F2084F|DMBT1_uc021qah.1_Silent_p.F1466F|DMBT1_uc009xzz.1_Silent_p.F2093F|DMBT1_uc010qtx.1_Silent_p.F814F|DMBT1_uc009yab.1_Silent_p.F797F|DMBT1_uc009yac.1_Silent_p.F388F NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 2094 CUB 2. 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 Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein 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) CCTCCAACTTCATGTCCATTC 0.512000 17 18 0 0 0.000566183 0 0 CDH18 1016 broad.mit.edu 37 5 19483644 19483644 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:19483644G>A uc003jgd.3 - 11 2182 c.1648C>T c.(1648-1650)Ctg>Ttg p.L550L CDH18_uc011cnm.2_Intron|CDH18_uc003jgc.3_Silent_p.L550L|CDH18_uc021xwu.1_Intron NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 550 Cadherin 5. 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) CGCCTTGTCAGAATGCTGGCT 0.428000 60 35 0 0 0.000228196 0 0 NCR1 9437 broad.mit.edu 37 19 55417933 55417933 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:55417933G>A uc002qib.2 + 2 161 c.123G>A c.(121-123)aaG>aaA p.K41K NCR1_uc002qic.2_Silent_p.K41K|NCR1_uc002qie.2_Silent_p.K41K|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron NM_004829 NP_004820 O76036 NCTR1_HUMAN Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA. 41 Ig-like 1. cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity SWI/SNF complex|integral to plasma membrane receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) TGGTTCCAAAGGAAAAGCAAG 0.542000 64 17 0 0 0.000958276 0 0 C7orf34 135927 broad.mit.edu 37 7 142637616 142637616 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:142637616G>A uc003wca.2 + 1 427 c.386G>A c.(385-387)gGa>gAa p.G129E NM_178829 NP_849151 Q96L11 CG034_HUMAN Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA. 104 extracellular region large_intestine(1)|lung(4) 5 Melanoma(164;0.059) GTTTTCTCAGGAGGGCCATTG 0.542000 106 53 0 0 0.000781405 0 0 DNAH17 8632 broad.mit.edu 37 17 76458971 76458971 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:76458971C>T uc010dhp.2 - 56 9254 c.9129G>A c.(9127-9129)gaG>gaA p.E3043E DNAH17_uc002jvs.3_Non-coding_Transcript NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCTCCAGCCTCTCGATTTTGG 0.582000 75 22 0 0 0.000375601 0 0 SDR16C5 195814 broad.mit.edu 37 8 57228829 57228829 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr8:57228829C>T uc010lyk.1 - 1 716 c.78G>A c.(76-78)atG>atA p.M26I SDR16C5_uc003xsy.1_Missense_Mutation_p.M26I|SDR16C5_uc010lyl.1_Missense_Mutation_p.M26I NM_138969 NP_620419 Q8N3Y7 RDHE2_HUMAN Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA. 26 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 AGGCAAAAATCATAGCCTCCA 0.448000 32 22 0 0 0.000295444 0 0 RAPGEF6 51735 broad.mit.edu 37 5 131039813 131039813 + Missense_Mutation SNP G A A rs13177318 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:131039813G>A uc003kvs.1 - 9 1203 c.1061C>T c.(1060-1062)tCa>tTa p.S354L RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Missense_Mutation_p.S326L|RAPGEF6_uc010jdm.1_Missense_Mutation_p.S309L|RAPGEF6_uc003kvu.3_Missense_Mutation_p.S354L NM_133372 NP_588613 Q8TEU7 RPGF6_HUMAN Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA. 0 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity p.A354S(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) AGGAAAATGTGAAAAAAAGAA 0.289000 18 27 0 0 0.000227799 0 0 MYB 4602 broad.mit.edu 37 6 135521533 135521533 + Missense_Mutation SNP C A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:135521533C>A uc003qfh.3 + 12 2129 c.1930C>A c.(1930-1932)Ctg>Atg p.L644M MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Missense_Mutation_p.L523M|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_Missense_Mutation_p.L149M|MYB_uc003qfw.3_Missense_Mutation_p.L335M|MYB_uc010kgi.3_Missense_Mutation_p.L523M|MYB_uc003qfq.3_Missense_Mutation_p.L641M|MYB_uc010kgj.3_Missense_Mutation_p.L488M|MYB_uc003qfo.3_Missense_Mutation_p.L438M|MYB_uc003qfu.3_Missense_Mutation_p.L520M|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Non-coding_Transcript|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Non-coding_Transcript|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Non-coding_Transcript|MYB_uc003qfi.3_Missense_Mutation_p.L628M|MYB_uc003qfe.3_Non-coding_Transcript|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Non-coding_Transcript|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Missense_Mutation_p.L523M NM_001130173 NP_001123645 P10242 MYB_HUMAN Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA. 538 blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) ACCACCCTTACTGAAGAAAAT 0.443000 T NFIB adenoid cystic carcinoma 35 18 2.35188e-11 2.42733e-10 0.00074312 1 0 ISX 91464 broad.mit.edu 37 22 35481636 35481636 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr22:35481636C>T uc003anj.3 + 3 1639 c.688C>T c.(688-690)Ctt>Ttt p.L230F NM_001008494 NP_001008494 Q2M1V0 ISX_HUMAN Homo sapiens intestine-specific homeobox (ISX), mRNA. 230 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 GCTATGCATCCTTCCACCTCC 0.552000 49 87 0 0 0.000781405 0 0 ZNF862 643641 broad.mit.edu 37 7 149543277 149543277 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:149543277C>T uc010lpn.3 + 2 366 c.174C>T c.(172-174)ttC>ttT p.F58F NM_001099220 NP_001092690 O60290 ZN862_HUMAN Homo sapiens zinc finger protein 862 (ZNF862), mRNA. 58 KRAB 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 TCCGCAAGTTCGGACGAGGGC 0.557000 27 15 0 0 0.00074312 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110509206 110509206 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr8:110509206G>A uc003yne.3 + 63 10490 c.10386G>A c.(10384-10386)ggG>ggA p.G3462G NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 3462 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTTTATATGGGATCTATATGA 0.383000 HNSCC(38;0.096) 64 50 0 0 0.000781405 0 0 RBM26 64062 broad.mit.edu 37 13 79929422 79929422 + Missense_Mutation SNP T A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr13:79929422T>A uc001vkz.2 - 11 1816 c.1802A>T c.(1801-1803)aAt>aTt p.N601I RBM26_uc001vky.2_Missense_Mutation_p.N596I|RBM26_uc001vla.2_Missense_Mutation_p.N596I|RBM26_uc001vkx.2_Missense_Mutation_p.N308I|RBM26_uc010tia.2_5'Flank NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN Homo sapiens RNA binding motif protein 26 (RBM26), mRNA. 596 RRM 1. mRNA processing RNA binding|nucleotide binding|protein 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) AATAAAGCGATTGTTTAATAC 0.388000 19 17 0 0 0.000175454 0 0 IGLL5 100423062 broad.mit.edu 37 22 23237605 23237605 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr22:23237605G>A uc021wmq.1 + 2 653 c.379G>A c.(379-381)Gag>Aag p.E127K abParts_uc021wml.1_Non-coding_Transcript|abParts_uc021wmm.1_Intron|IGLL5_uc011aiw.2_Missense_Mutation_p.E126K|IGLL5_uc010gtu.2_Non-coding_Transcript|IGLL5_uc021wmr.1_Non-coding_Transcript NM_001178126 NP_001171597 B9A064 IGLL5_HUMAN Homo sapiens immunoglobulin lambda-like polypeptide 5 (IGLL5), transcript variant 1, mRNA. 126 C region (By similarity to lambda light- chain).|Ig-like C1-type. extracellular region p.L127F(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1) 7 CTCCTCTGAGGAGCTCCAAGC 0.612000 36 17 0 0 0.00074312 0 0 BTN1A1 696 broad.mit.edu 37 6 26509343 26509343 + Missense_Mutation SNP G T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:26509343G>T uc003nif.4 + 6 1579 c.1522G>T c.(1522-1524)Gat>Tat p.D508Y NM_001732 NP_001723 Q13410 BT1A1_HUMAN Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA. 508 extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 TGCCCCTAGGGATGCAGACAC 0.522000 94 10 0.00010058 0.00101766 0.00010058 1 0 MUC16 94025 broad.mit.edu 37 19 9083846 9083846 + Missense_Mutation SNP G C C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:9083846G>C uc002mkp.3 - 0 8173 c.7969C>G c.(7969-7971)Cca>Gca p.P2657A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2657 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.E2656D(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAACTTGTTGGCTCAGTGGCA 0.517000 26 11 0 0 0.000151284 0 0 SLC3A1 6519 broad.mit.edu 37 2 44539728 44539728 + Missense_Mutation SNP G A A rs139377923 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:44539728G>A uc002ruc.4 + 7 1414 c.1336G>A c.(1336-1338)Ggt>Agt p.G446S SLC3A1_uc002rtz.2_Missense_Mutation_p.G446S|SLC3A1_uc002rua.3_Missense_Mutation_p.G446S|SLC3A1_uc002rub.2_Missense_Mutation_p.G446S|SLC3A1_uc002rud.4_Missense_Mutation_p.G168S|SLC3A1_uc002rue.4_Missense_Mutation_p.G66S NM_000341 NP_000332 Q07837 SLC31_HUMAN Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA. 446 carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding 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) CTTTCAGATTGGTGGACCAGA 0.403000 25 64 0 0 0.000781405 0 0 AKAP6 9472 broad.mit.edu 37 14 33292161 33292161 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr14:33292161G>A uc001wrq.3 + 12 5312 c.5142G>A c.(5140-5142)tcG>tcA p.S1714S NM_004274 NP_004265 Q13023 AKAP6_HUMAN Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA. 1714 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TCCCGGAATCGAATGCATCGT 0.468000 22 42 0 0 0.000781405 0 0 TBC1D1 23216 broad.mit.edu 37 4 38091574 38091574 + Missense_Mutation SNP T A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr4:38091574T>A uc003gtb.3 + 12 2430 c.2072T>A c.(2071-2073)cTt>cAt p.L691H TBC1D1_uc011byd.2_Missense_Mutation_p.L785H|TBC1D1_uc010ifd.3_Missense_Mutation_p.L478H|TBC1D1_uc011byf.1_Missense_Mutation_p.L562H NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA. 691 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 CTGGGAGAGCTTCCCCCACGA 0.473000 20 93 0 0 0.000781405 0 0 PREX2 80243 broad.mit.edu 37 8 68995569 68995569 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr8:68995569C>T uc003xxv.1 + 17 2000 c.1973C>T c.(1972-1974)tCg>tTg p.S658L PREX2_uc003xxu.1_Missense_Mutation_p.S658L|PREX2_uc011lez.1_Missense_Mutation_p.S593L NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 658 PDZ 1. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TTCCTGAAATCGTGTTTAAAC 0.353000 42 31 0 0 0.000692331 0 0 POU1F1 5449 broad.mit.edu 37 3 87309110 87309110 + Missense_Mutation SNP T G G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:87309110T>G uc010hoj.1 - 5 1013 c.888A>C c.(886-888)aaA>aaC p.K296N POU1F1_uc003dqq.1_Missense_Mutation_p.K270N NM_001122757 NP_001116229 P28069 PIT1_HUMAN Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA. 270 negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2) 18 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677) TTTTCACCCGTTTTTCTCTCT 0.373000 30 16 0 0 0.000958276 0 0 CD300A 11314 broad.mit.edu 37 17 72477958 72477958 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:72477958G>A uc002jkv.3 + 5 1081 c.760G>A c.(760-762)Gaa>Aaa p.E254K CD300A_uc002jkw.3_Missense_Mutation_p.E141K|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Missense_Mutation_p.E58K NM_007261 NP_009192 Q9UGN4 CLM8_HUMAN Homo sapiens CD300a molecule (CD300A), mRNA. 254 cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 GGTGGAGGTGGAATACAGCAC 0.632000 10 12 0 0 0.00010058 0 0 PPP3CA 5530 broad.mit.edu 37 4 101961690 101961690 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr4:101961690C>T uc011cen.1 - 10 1865 c.1190G>A c.(1189-1191)aGg>aAg p.R397K PPP3CA_uc003hvu.2_Missense_Mutation_p.R397K|PPP3CA_uc010ilj.2_Missense_Mutation_p.R355K|PPP3CA_uc003hvt.2_Missense_Mutation_p.R384K|PPP3CA_uc003hvs.2_Missense_Mutation_p.R330K|PPP3CA_uc010ilk.2_Missense_Mutation_p.R165K NM_000944 NP_000935 Q08209 PP2BA_HUMAN Homo sapiens protein phosphatase 3, catalytic subunit, alpha isozyme (PPP3CA), transcript variant 1, mRNA. 397 Calmodulin-binding (Potential). protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) GATCTTGTTCCTTATCACCTC 0.393000 29 8 0 0 0.000274275 0 0 PTK2B 2185 broad.mit.edu 37 8 27295002 27295002 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr8:27295002C>T uc003xfn.2 + 21 2324 c.1516C>T c.(1516-1518)Ccc>Tcc p.P506S PTK2B_uc022ate.1_Missense_Mutation_p.P506S|PTK2B_uc003xfp.2_Missense_Mutation_p.P506S|PTK2B_uc003xfq.2_Missense_Mutation_p.P506S|PTK2B_uc003xfr.1_Missense_Mutation_p.P252S NM_173174 NP_775268 Q14289 FAK2_HUMAN Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA. 506 Protein kinase. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) GGAATTGTATCCCTATGGGGA 0.562000 14 12 0 0 0.000219431 0 0 IFITM3 10410 broad.mit.edu 37 11 320742 320742 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:320742C>T uc001lpa.2 - 0 173 c.72G>A c.(70-72)aaG>aaA p.K24K BC040735_uc001loz.3_Intron NM_021034 NP_066362 Q01628 IFM3_HUMAN Homo sapiens interferon induced transmembrane protein 3 (IFITM3), mRNA. 24 response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) CGTGCTCCTCCTTGAGCATCT 0.632000 63 52 0 0 0.000781405 0 0 SDK1 221935 broad.mit.edu 37 7 4150372 4150372 + Missense_Mutation SNP G T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:4150372G>T uc003smx.3 + 22 3541 c.3402G>T c.(3400-3402)gaG>gaT p.E1134D SDK1_uc010kso.3_Missense_Mutation_p.E410D NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 1134 Fibronectin type-III 5. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) AGATGCTGGAGATCCCAAACC 0.557000 45 20 5.45024e-15 5.63922e-14 0.00047179 1 0 SCN9A 6335 broad.mit.edu 37 2 167134676 167134676 + Missense_Mutation SNP A C C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:167134676A>C uc010fpl.3 - 14 2799 c.2458T>G c.(2458-2460)Ttg>Gtg p.L820V BC051759_uc002udp.3_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 831 voltage-gated sodium channel complex voltage-gated sodium channel activity p.G819*(1) NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) AGAACTGACAATCCTTCCACA 0.343000 26 7 0 0 0.000442599 0 0 PDZD7 79955 broad.mit.edu 37 10 102789856 102789856 + Missense_Mutation SNP G C C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:102789856G>C uc001ksn.3 - 1 371 c.121C>G c.(121-123)Cga>Gga p.R41G PDZD7_uc021pxc.1_Missense_Mutation_p.R41G|PDZD7_uc001kso.2_Missense_Mutation_p.R41G|SFXN3_uc001ksp.3_5'Flank|SFXN3_uc010qpx.2_5'Flank NM_024895 NP_079171 Q9H5P4 PDZD7_HUMAN Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA. 41 cilium|nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) AGCAGGTATCGCGTTGCGGTG 0.652000 49 12 0 0 0.000151284 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102988580 102988580 + Missense_Mutation SNP A T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:102988580A>T uc001phn.1 + 5 1131 c.987A>T c.(985-987)aaA>aaT p.K329N DYNC2H1_uc009yxe.1_Missense_Mutation_p.K329N|DYNC2H1_uc001pho.2_Missense_Mutation_p.K329N NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA. 329 Stem (By similarity). Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AACTTGGCAAACGCCTTGAAG 0.333000 26 8 0 0 0.000157383 0 0 MFSD6L 162387 broad.mit.edu 37 17 8702360 8702360 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:8702360C>T uc002glp.2 - 0 308 c.79G>A c.(79-81)Gaa>Aaa p.E27K NM_152599 NP_689812 Q8IWD5 MFS6L_HUMAN Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA. 27 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 ACGCAGGCTTCCCGCACCCCG 0.677000 5 14 0 0 0.000566183 0 0 RASA2 5922 broad.mit.edu 37 3 141295844 141295844 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:141295844G>A uc010huq.1 + 14 1486 c.1486G>A c.(1486-1488)Gac>Aac p.D496N RASA2_uc003etz.1_Missense_Mutation_p.D496N|RASA2_uc003eua.1_Missense_Mutation_p.D496N|RASA2_uc011bnc.1_Missense_Mutation_p.D88N NM_006506 NP_006497 Q15283 RASA2_HUMAN Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA. 496 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm Ras GTPase activator activity|metal ion binding p.D496D(1) NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 TCCTGCAGATGACCCTCATGT 0.348000 83 24 0 0 0.000375601 0 0 ZDBF2 57683 broad.mit.edu 37 2 207174867 207174867 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:207174867G>A uc002vbp.2 + 4 5865 c.5615G>A c.(5614-5616)gGg>gAg p.G1872E NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 1872 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TCTTCGAAGGGGAAAAAAAAG 0.418000 17 5 0 0 3.59834e-05 0 0 KRT2 3849 broad.mit.edu 37 12 53045889 53045889 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:53045889C>T uc001sat.3 - 0 71 c.38G>A c.(37-39)gGa>gAa p.G13E NM_000423 NP_000414 P35908 K22E_HUMAN Homo sapiens keratin 2 (KRT2), mRNA. 13 Head. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) tccacctcctcctcttcctcG 0.552000 8 3 0 0 0.00024832 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101748766 101748766 + Silent SNP T G G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:101748766T>G uc003knn.3 - 8 1726 c.1554A>C c.(1552-1554)ggA>ggC p.G518G SLCO6A1_uc003kno.3_Silent_p.G265G|SLCO6A1_uc003knp.3_Silent_p.G518G|SLCO6A1_uc003knq.3_Silent_p.G456G NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA. 518 Kazal-like. integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TATCATCTCTTCCACATATAG 0.313000 19 15 0 0 0.000308642 0 0 NAV1 89796 broad.mit.edu 37 1 201750396 201750396 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:201750396C>T uc021phi.1 + 4 1969 c.1622C>T c.(1621-1623)tCc>tTc p.S541F NAV1_uc001gwu.3_Missense_Mutation_p.S541F|NAV1_uc001gwv.1_Missense_Mutation_p.S49F|NAV1_uc001gww.2_Missense_Mutation_p.S150F|NAV1_uc001gwx.3_Missense_Mutation_p.S150F|NAV1_uc001gwy.1_5'Flank NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA. 541 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 GCTGTAACTTCCCCCATCACT 0.537000 24 5 0 0 0.000602214 0 0 OR2T33 391195 broad.mit.edu 37 1 248436865 248436865 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:248436865C>T uc010pzi.2 - 0 252 c.252G>A c.(250-252)ttG>ttA p.L84L NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA. 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TACTTCCGGTCAAGTAGTCAG 0.577000 114 35 0 0 0.000953801 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967311 41967311 + Missense_Mutation SNP C G G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:41967311C>G uc010skn.2 + 9 2738 c.2730C>G c.(2728-2730)atC>atG p.I910M PDZRN4_uc001rmq.4_Missense_Mutation_p.I652M|PDZRN4_uc009zjz.3_Missense_Mutation_p.I650M|PDZRN4_uc001rmr.3_Missense_Mutation_p.I537M NM_001164595 NP_001158067 Q6ZMN7 PZRN4_HUMAN Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA. 910 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GAGACCGAATCCTGAAGGAAC 0.517000 29 19 0 0 0.00074312 0 0 RELN 5649 broad.mit.edu 37 7 103175777 103175777 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:103175777G>A uc022ajr.1 - 45 7495 c.7335C>T c.(7333-7335)ctC>ctT p.L2445L RELN_uc022ajq.1_Silent_p.L2445L|RELN_uc010liz.3_Silent_p.L2445L NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 2445 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) TATAAGGAGGGAGAGGCAGAG 0.453000 18 9 0 0 0.000978159 0 0 PCLO 27445 broad.mit.edu 37 7 82585181 82585181 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:82585181C>T uc003uhx.2 - 4 5377 c.5088G>A c.(5086-5088)gaG>gaA p.E1696E PCLO_uc003uhv.2_Silent_p.E1696E NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1627 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CCAATTCTGGCTCTTCGTCAA 0.428000 27 14 0 0 0.000219431 0 0 MUC16 94025 broad.mit.edu 37 19 9084638 9084638 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:9084638G>A uc002mkp.3 - 0 7381 c.7177C>T c.(7177-7179)Ccc>Tcc p.P2393S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2393 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGCTAGTGGGACTGATGGAG 0.463000 29 13 0 0 0.00010058 0 0 OR52E2 119678 broad.mit.edu 37 11 5080763 5080763 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:5080763G>A uc010qyw.2 - 0 95 c.95C>T c.(94-96)cCc>cTc p.P32L NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA. 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) AGCACAGAAGGGAAAGCCGAT 0.502000 14 20 0 0 0.000175454 0 0 MYB 4602 broad.mit.edu 37 6 135516936 135516936 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:135516936C>T uc003qfh.3 + 8 1198 c.999C>T c.(997-999)gcC>gcT p.A333A MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Silent_p.A333A|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_5'UTR|MYB_uc003qfw.3_Silent_p.A145A|MYB_uc010kgi.3_Silent_p.A333A|MYB_uc003qfq.3_Silent_p.A330A|MYB_uc010kgj.3_Silent_p.A298A|MYB_uc003qfo.3_Intron|MYB_uc003qfu.3_Silent_p.A330A|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Non-coding_Transcript|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Non-coding_Transcript|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Non-coding_Transcript|MYB_uc003qfi.3_Silent_p.A333A|MYB_uc003qfe.3_Non-coding_Transcript|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Intron|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Silent_p.A333A|MYB_uc003qge.1_Non-coding_Transcript NM_001130173 NP_001123645 P10242 MYB_HUMAN Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA. 333 Negative regulatory domain (By similarity). blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) CCACCATTGCCGACCACACCA 0.552000 T NFIB adenoid cystic carcinoma 51 12 0 0 0.00010058 0 0 MAMDC2 256691 broad.mit.edu 37 9 72723222 72723222 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:72723222C>T uc004ahm.2 + 2 861 c.244C>T c.(244-246)Cgt>Tgt p.R82C MAMDC2_uc004ahn.2_Non-coding_Transcript NM_153267 NP_694999 Q7Z304 MAMC2_HUMAN Homo sapiens MAM domain containing 2 (MAMDC2), mRNA. 82 MAM 1. endoplasmic reticulum|membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 14 GAGCTGCCTCCGTTTGGTCTA 0.493000 6 25 0 0 0.000878237 0 0 FN1 2335 broad.mit.edu 37 2 216289995 216289995 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:216289995G>A uc002vfa.3 - 6 1124 c.858C>T c.(856-858)ttC>ttT p.F286F FN1_uc002vfc.3_Silent_p.F286F|FN1_uc002vfe.3_Silent_p.F286F|FN1_uc002vff.3_Silent_p.F286F|FN1_uc002vfg.3_Silent_p.F286F|FN1_uc002vfh.3_Silent_p.F286F|FN1_uc002vfi.3_Silent_p.F286F|FN1_uc002vfj.3_Silent_p.F286F|FN1_uc002vfb.3_Silent_p.F286F|FN1_uc002vfl.3_Silent_p.F286F NM_212482 NP_997647 P02751 FINC_HUMAN Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA. 286 acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAACATCGGTGAAGGGGCCAG 0.522000 48 139 0 0 0.000781405 0 0 DNAH10 196385 broad.mit.edu 37 12 124330680 124330680 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:124330680G>A uc001uft.4 + 30 5464 c.5439G>A c.(5437-5439)cgG>cgA p.R1813R NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 1813 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCACCGATCGGATTTACCTGA 0.582000 23 7 0 0 0.000157383 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599030 136599030 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:136599030G>A uc003qgx.1 - 3 1242 c.989C>T c.(988-990)aCt>aTt p.T330I BCLAF1_uc003qgy.1_Missense_Mutation_p.T328I|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.T328I|BCLAF1_uc003qgw.1_Missense_Mutation_p.T330I NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 330 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AGTCTTTGCAGTTTCCTGATC 0.378000 37 5 0 0 3.59834e-05 0 0 PAPD7 11044 broad.mit.edu 37 5 6746348 6746349 + Missense_Mutation DNP CG AT AT rs138124674 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:6746348_6746349CG>AT uc003jdx.1 + 6 646_647 c.517_518CG>AT c.(517-519)cgg>ATg p.R173M PAPD7_uc011cmn.2_Missense_Mutation_p.R173M|PAPD7_uc010itl.1_5'UTR NM_006999 NP_001165277 Q5XG87 PAPD7_HUMAN Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA. 173 DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 AATTGATGCCCGGAGAGCTGAT 0.381000 OREG0016494 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 119 6 0 0 6.4e-05 0 0 TRANK1 9881 broad.mit.edu 37 3 36898030 36898030 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:36898030C>T uc003cgj.3 - 11 3299 c.3051G>A c.(3049-3051)gtG>gtA p.V1017V NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 1017 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TGAGGTCGATCACCGCGTACT 0.537000 80 55 0 0 0.000781405 0 0 TAF1L 138474 broad.mit.edu 37 9 32633448 32633448 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:32633448C>T uc003zrg.1 - 0 2220 c.2130G>A c.(2128-2130)atG>atA p.M710I AX747113_uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 710 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CAACCTGCATCATTAAGGGTC 0.418000 52 46 0 0 0.000781405 0 0 DACH1 1602 broad.mit.edu 37 13 72440119 72440119 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr13:72440119C>T uc021rkj.1 - 0 1212 c.789G>A c.(787-789)gtG>gtA p.V263V DACH1_uc021rkk.1_Silent_p.V263V|DACH1_uc021rkl.1_Silent_p.V263V NM_080759 NP_542937 Q9UI36 DACH1_HUMAN Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA. 261 DACHbox-N.|Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TGCAGCGGTTCACTCCTGGCT 0.622000 10 17 0 0 0.000175454 0 0 CLCA2 9635 broad.mit.edu 37 1 86905984 86905984 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:86905984C>T uc001dlr.4 + 7 1519 c.1357C>T c.(1357-1359)Ctg>Ttg p.L453L NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN Homo sapiens chloride channel accessory 2 (CLCA2), mRNA. 453 VWFA. cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity p.L453M(2) NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) AGCCCCAAATCTGGAGGAATT 0.423000 22 38 0 0 0.000270559 0 0 LRCH2 57631 broad.mit.edu 37 X 114357343 114357343 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chrX:114357343G>A uc010nqe.3 - 18 2111 c.2080C>T c.(2080-2082)Cat>Tat p.H694Y LRCH2_uc004epz.3_Missense_Mutation_p.H677Y NM_020871 NP_065922 Q5VUJ6 LRCH2_HUMAN Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 2 (LRCH2), transcript variant 1, mRNA. 694 CH. breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 19 GATGGTACATGAATACTAGCA 0.358000 6 26 0 0 0.000184323 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140389311 140389311 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:140389311C>T uc003lii.3 + 3 3418 c.2813C>T c.(2812-2814)cCc>cTc p.P938L PCDHAC2_uc003lha.2_Missense_Mutation_p.P617L|PCDHAC2_uc003lhb.2_Missense_Mutation_p.P881L|PCDHAC2_uc003lhd.2_Missense_Mutation_p.P879L|PCDHAC2_uc003lhf.2_Missense_Mutation_p.P881L|PCDHAC2_uc003lhh.1_Missense_Mutation_p.P878L|PCDHAC2_uc003lhi.2_Missense_Mutation_p.P878L|PCDHAC2_uc003lhl.2_Missense_Mutation_p.P867L|PCDHAC2_uc003lhk.1_Missense_Mutation_p.P867L|PCDHAC2_uc003lho.2_Missense_Mutation_p.P881L|PCDHAC2_uc003lhn.2_Missense_Mutation_p.P617L|PCDHAC2_uc003lhq.2_Missense_Mutation_p.P868L|PCDHAC2_uc003lhs.2_Missense_Mutation_p.P881L|PCDHAC2_uc003lhu.2_Missense_Mutation_p.P881L|PCDHAC2_uc003lhw.2_Missense_Mutation_p.P616L|PCDHAC2_uc003lhx.2_Missense_Mutation_p.P879L|PCDHAC2_uc003lia.2_Missense_Mutation_p.P880L|PCDHAC2_uc003lic.2_Missense_Mutation_p.P872L|PCDHAC2_uc003lif.2_Missense_Mutation_p.P881L|PCDHAC2_uc003lie.1_Missense_Mutation_p.P881L|PCDHAC2_uc003lih.2_Missense_Mutation_p.P894L NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA. 938 4 X 4 AA repeats of P-X-X-P. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAATCCGGTCCCGGTGAGTTG 0.522000 39 26 0 0 0.000878237 0 0 MED12L 116931 broad.mit.edu 37 3 151075134 151075134 + Missense_Mutation SNP A T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:151075134A>T uc003eyp.3 + 17 2819 c.2690A>T c.(2689-2691)aAt>aTt p.N897I MED12L_uc011bnz.2_Missense_Mutation_p.N757I|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.N61I NM_053002 NP_443728 Q86YW9 MD12L_HUMAN Homo sapiens mediator complex subunit 12-like (MED12L), mRNA. 897 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTAATCTTGAATCCTGATCAG 0.423000 55 13 0 0 0.000308642 0 0 BTD 686 broad.mit.edu 37 3 15677086 15677086 + Missense_Mutation SNP C G G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:15677086C>G uc011avv.2 + 1 294 c.206C>G c.(205-207)tCc>tGc p.S69C BTD_uc003cah.3_Missense_Mutation_p.S67C|BTD_uc011avw.2_Missense_Mutation_p.S69C|BTD_uc011avx.2_Missense_Mutation_p.S47C NM_000060 NP_000051 P43251 BTD_HUMAN Homo sapiens biotinidase (BTD), mRNA. 67 CN hydrolase. central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 18 GAGCATCCATCCATCCTGAGT 0.557000 105 24 0 0 0.000586117 0 0 NBEA 26960 broad.mit.edu 37 13 35733681 35733681 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr13:35733681G>A uc021rid.1 + 21 3907 c.3373G>A c.(3373-3375)Gat>Aat p.D1125N NBEA_uc021ric.1_Missense_Mutation_p.D1125N|NBEA_uc010abi.3_5'Flank NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 1125 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TGAAGAAAAGGATAATGGTCC 0.343000 6 10 0 0 0.000978159 0 0 KIF1C 10749 broad.mit.edu 37 17 4923933 4923933 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:4923933G>A uc002gan.2 + 19 2254 c.1897G>A c.(1897-1899)Gag>Aag p.E633K NM_006612 NP_006603 O43896 KIF1C_HUMAN Homo sapiens kinesin family member 1C (KIF1C), mRNA. 633 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER Golgi apparatus|endoplasmic reticulum|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 GGAACTGCTGGAGCAGCAAGG 0.652000 8 22 0 0 0.000229342 0 0 MPHOSPH9 10198 broad.mit.edu 37 12 123645368 123645368 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:123645368G>A uc001uel.3 - 18 3062 c.2954C>T c.(2953-2955)tCt>tTt p.S985F MPHOSPH9_uc010tal.2_Missense_Mutation_p.S439F|MPHOSPH9_uc010tam.2_Non-coding_Transcript|MPHOSPH9_uc001uem.3_Missense_Mutation_p.S439F NM_022782 NP_073619 Q99550 MPP9_HUMAN Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA. 985 M phase of mitotic cell cycle Golgi membrane|centriole NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) TCCTCCAGGAGAAGGCATCCT 0.403000 29 11 0 0 0.00010058 0 0 IDE 3416 broad.mit.edu 37 10 94267332 94267332 + Splice_Site SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:94267332C>T uc001kia.3 - 9 1321 c.1245_splice c.e9+1 p.K415_splice NM_004969 NP_004960 P14735 IDE_HUMAN Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA. 415 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACAAAAGTACCTTGCACTCTT 0.313000 174 172 0 0 0.000781405 0 0 NBPF1 55672 broad.mit.edu 37 1 16895719 16895719 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:16895719C>T uc009vos.1 - 22 3351 c.2463G>A c.(2461-2463)gaG>gaA p.E821E NBPF1_uc009vot.1_Silent_p.E279E|NBPF1_uc001ayz.1_Silent_p.E279E|NBPF1_uc010oce.1_Silent_p.E550E NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 821 NBPF 4.|Poly-Glu. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CCTCTTCAGACTCCTGCAGAT 0.488000 163 11 0 0 0.000151284 0 0 VTN 7448 broad.mit.edu 37 17 26696733 26696734 + Missense_Mutation DNP CC TT TT TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:26696733_26696734CC>TT uc002hbc.3 - 2 472_473 c.323_324GG>AA c.(322-324)ggg>gAA p.G108E TMEM199_uc010wah.1_Intron|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank NM_000638 NP_000629 P04004 VTNC_HUMAN Homo sapiens vitronectin (VTN), mRNA. 108 cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion alphav-beta3 integrin-vitronectin complex|extracellular space heparin binding|integrin binding|scavenger receptor activity kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 13 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Urokinase(DB00013) GCTCAGGATTCCCTTTGGACTG 0.594000 14 18 0 0 6.4e-05 0 0 PKP2 5318 broad.mit.edu 37 12 32945415 32945415 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:32945415C>T uc001rlj.4 - 13 2704 c.2589G>A c.(2587-2589)aaG>aaA p.K863K PKP2_uc001rlk.4_Silent_p.K819K|PKP2_uc010skj.2_Silent_p.K816K NM_004572 NP_004563 Q99959 PKP2_HUMAN Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA. 863 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) AATCTGTCTTCTTAAACTGAG 0.423000 48 34 0 0 0.00111076 0 0 FAM171B 165215 broad.mit.edu 37 2 187627296 187627296 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:187627296C>T uc002ups.3 + 7 2339 c.2227C>T c.(2227-2229)Cta>Tta p.L743L FAM171B_uc002upr.1_Silent_p.L710L|FAM171B_uc002upt.3_Silent_p.L212L NM_177454 NP_803237 Q6P995 F171B_HUMAN Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA. 743 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 AGATTTAGACCTAAGCAGCAG 0.488000 33 10 0 0 0.000151284 0 0 ZBBX 79740 broad.mit.edu 37 3 167023529 167023529 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:167023529C>T uc011bpc.2 - 16 1964 c.1627G>A c.(1627-1629)Gag>Aag p.E543K ZBBX_uc003feq.3_Missense_Mutation_p.E514K|ZBBX_uc003fep.3_Missense_Mutation_p.E543K NM_001199201 NP_001186130 A8MT70 ZBBX_HUMAN Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA. 543 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 AATTTCTCCTCAATGGGAGCT 0.353000 36 16 0 0 0.000422831 0 0 LRP6 4040 broad.mit.edu 37 12 12334021 12334021 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:12334021C>T uc001rah.4 - 5 1471 c.1329G>A c.(1327-1329)gaG>gaA p.E443E BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.E443E NM_002336 NP_002327 O75581 LRP6_HUMAN Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA. 443 Beta-propeller 2. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity p.E443D(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CCTCTAAGTCCTCTGAAATCA 0.448000 227 146 0 0 0.000781405 0 0 SDR16C5 195814 broad.mit.edu 37 8 57228744 57228744 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr8:57228744G>A uc010lyk.1 - 1 801 c.163C>T c.(163-165)Ctc>Ttc p.L55F SDR16C5_uc003xsy.1_Missense_Mutation_p.L55F|SDR16C5_uc010lyl.1_Missense_Mutation_p.L55F NM_138969 NP_620419 Q8N3Y7 RDHE2_HUMAN Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA. 55 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 AAGGCTAAGAGCCTTCCGAGT 0.502000 38 26 0 0 0.00047179 0 0 C7orf43 55262 broad.mit.edu 37 7 99754797 99754797 + Missense_Mutation SNP A C C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:99754797A>C uc003utr.3 - 4 945 c.765T>G c.(763-765)gaT>gaG p.D255E C7orf43_uc010lgo.3_5'Flank|C7orf43_uc010lgp.3_5'UTR|C7orf43_uc011kjj.2_Missense_Mutation_p.D23E|C7orf43_uc003uts.3_5'UTR|C7orf43_uc022aih.1_5'Flank NM_018275 NP_060745 Q8WVR3 CG043_HUMAN Homo sapiens chromosome 7 open reading frame 43 (C7orf43), mRNA. 255 breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1) 10 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGATTCGGATATCCCAGATGG 0.577000 23 9 0 0 0.000274275 0 0 INSR 3643 broad.mit.edu 37 19 7122746 7122746 + Missense_Mutation SNP C A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:7122746C>A uc002mgd.1 - 18 3517 c.3408G>T c.(3406-3408)atG>atT p.M1136I INSR_uc002mge.1_Missense_Mutation_p.M1124I NM_000208 NP_000199 P06213 INSR_HUMAN Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA. 1136 Protein kinase. G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCATCTGAATCATCTCTTGAA 0.572000 271 77 7.539e-32 7.8398e-31 0.000781405 1 0 CDC42EP3 10602 broad.mit.edu 37 2 37873383 37873383 + Missense_Mutation SNP T A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:37873383T>A uc021vfz.1 - 0 348 c.348A>T c.(346-348)caA>caT p.Q116H CDC42EP3_uc002rqi.1_Missense_Mutation_p.Q116H NM_006449 NP_006440 Q9UKI2 BORG2_HUMAN Homo sapiens CDC42 effector protein (Rho GTPase binding) 3 (CDC42EP3), mRNA. 116 regulation of cell shape|signal transduction actin cytoskeleton|cytoplasm|endomembrane system|membrane cytoskeletal regulatory protein binding p.S115F(1) endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 11 all_hematologic(82;0.172) ACATGAGAGCTTGGGATCCTC 0.557000 88 22 0 0 0.000229342 0 0 BC087858 0 broad.mit.edu 37 6 1515378 1515378 + Splice_Site SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:1515378G>A uc003mto.3 + 4 c.598_splice c.e4+1 DD413621_uc021ykm.1_5'Flank Homo sapiens cDNA clone IMAGE:30390216. CCCTCAAGCAGGTAGGAGATT 0.478000 59 18 0 0 0.00074312 0 0 PFKFB4 5210 broad.mit.edu 37 3 48563046 48563046 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:48563046G>A uc003ctv.3 - 9 1061 c.1044C>T c.(1042-1044)ttC>ttT p.F348F PFKFB4_uc003ctx.3_Silent_p.F305F|PFKFB4_uc010hkb.3_Silent_p.F341F|PFKFB4_uc003ctw.3_Silent_p.F157F|PFKFB4_uc010hkc.3_Intron|PFKFB4_uc011bbm.2_Silent_p.F337F|PFKFB4_uc011bbn.1_Non-coding_Transcript NM_004567 NP_004558 Q16877 F264_HUMAN Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA. 348 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) CCCGCAGGGCGAACTCCAGTG 0.562000 20 13 0 0 0.000422831 0 0 ARNT2 9915 broad.mit.edu 37 15 80873662 80873662 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:80873662C>T uc002bfr.3 + 16 2001 c.1835C>T c.(1834-1836)tCc>tTc p.S612F ARNT2_uc010unm.2_Missense_Mutation_p.S601F|ARNT2_uc002bfs.3_Missense_Mutation_p.S601F NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA. 612 central nervous system development|in utero embryonic development|response to hypoxia DNA binding|aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) GACCCCTCTTCCTACAGCCCC 0.572000 27 38 0 0 0.000228196 0 0 LMX1A 4009 broad.mit.edu 37 1 165180005 165180005 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:165180005C>T uc001gcz.2 - 5 872 c.678G>A c.(676-678)gaG>gaA p.E226E LMX1A_uc021pdz.1_Silent_p.E226E|LMX1A_uc021pdy.1_5'UTR|LMX1A_uc001gcw.2_5'UTR NM_001174069 NP_796372 Q8TE12 LMX1A_HUMAN Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA. 226 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CAGCCAGAGTCTCTCTCACCT 0.478000 18 27 0 0 0.000184323 0 0 TPTE 7179 broad.mit.edu 37 21 11012949 11012949 + RNA SNP A G G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr21:11012949A>G uc002yis.1 - 8 c.1672T>C P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA. 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) AATTTGTGCTACAAGTGAAGA 0.279000 30 10 0 0 0.000442599 0 0 TRPM6 140803 broad.mit.edu 37 9 77407629 77407629 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:77407629C>T uc004ajl.1 - 18 2687 c.2449G>A c.(2449-2451)Ggt>Agt p.G817S TRPM6_uc004ajk.1_Missense_Mutation_p.G812S|TRPM6_uc022bib.1_Missense_Mutation_p.G812S|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 817 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CTTTCCAAACCAAAATGCTGA 0.388000 13 26 0 0 0.000878237 0 0 RNF112 7732 broad.mit.edu 37 17 19315925 19315926 + Missense_Mutation DNP GG AT AT TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:19315925_19315926GG>AT uc010vyw.2 + 2 441_442 c.210_211GG>AT c.(208-213)ctggac>ctATac p.D71Y RNF112_uc010vyu.2_Missense_Mutation_p.D71Y|RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Missense_Mutation_p.D23Y NM_007148 NP_009079 Q7Z5V9 Q7Z5V9_HUMAN Homo sapiens ring finger protein 112 (RNF112), mRNA. 71 GTP binding|GTPase activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 CCATCTCGCTGGACTGTGGCCA 0.649000 4 12 0 0 6.4e-05 0 0 LOC100132352 100132352 broad.mit.edu 37 9 68728861 68728861 + RNA SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:68728861G>A uc022bhu.1 + 2 c.646G>A LOC100132352_uc010mnp.2_Non-coding_Transcript Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA. gcaaagataagaagagaaaaa 0.284000 49 8 0 0 0.000442599 0 0 SMC1B 27127 broad.mit.edu 37 22 45785651 45785651 + Nonsense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr22:45785651G>A uc003bgc.3 - 9 1724 c.1672C>T c.(1672-1674)Cga>Tga p.R558* SMC1B_uc003bgd.3_Nonsense_Mutation_p.R558*|SMC1B_uc003bge.1_Nonsense_Mutation_p.R341* NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA. 558 Flexible hinge. chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TTCAGAAATCGAATACAATCT 0.388000 76 126 0 0 0.000781405 0 0 RFX7 64864 broad.mit.edu 37 15 56386859 56386859 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:56386859G>A uc010bfn.3 - 8 3067 c.3067C>T c.(3067-3069)Ccg>Tcg p.P1023S RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.P837S NM_022841 NP_073752 Q2KHR2 RFX7_HUMAN Homo sapiens regulatory factor X, 7 (RFX7), mRNA. 926 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 AATGCAAACGGATTCCTGCAT 0.493000 19 13 0 0 0.00010058 0 0 NPTXR 23467 broad.mit.edu 37 22 39219117 39219117 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr22:39219117G>A uc003awk.3 - 3 1403 c.1249C>T c.(1249-1251)Cat>Tat p.H417Y NM_014293 NP_055108 O95502 NPTXR_HUMAN Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA. 417 Pentaxin. integral to membrane metal ion binding central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) AGGATCCCATGAGGCTTGATG 0.602000 70 28 0 0 0.000692331 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141661 133141661 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr8:133141661C>T uc003ytj.3 - 14 2692 c.2467G>A c.(2467-2469)Ggg>Agg p.G823R KCNQ3_uc003yti.3_Missense_Mutation_p.G703R|KCNQ3_uc010mdt.3_Missense_Mutation_p.G811R NM_004519 NP_004510 O43525 KCNQ3_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA. 823 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.G823E(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CAGCTCGACCCCCCATTGGGG 0.612000 29 19 0 0 0.000132079 0 0 ABL1 25 broad.mit.edu 37 9 133747600 133747600 + Splice_Site SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:133747600G>A uc004bzw.3 + 5 910 c.907_splice c.e5+1 p.G303_splice ABL1_uc004bzv.3_Splice_Site_p.G322_splice NM_005157 NP_005148 P00519 ABL1_HUMAN Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA. 303 Protein kinase. DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GCAGCTCCTTGGTGAGTAAGC 0.572000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 7 6 0 0 8.12818e-05 0 0 AGL 178 broad.mit.edu 37 1 100353539 100353540 + Missense_Mutation DNP CC TT TT TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:100353539_100353540CC>TT uc001dsi.1 + 20 3087_3088 c.2687_2688CC>TT c.(2686-2688)gcc>gTT p.A896V AGL_uc001dsj.1_Missense_Mutation_p.A896V|AGL_uc001dsk.1_Missense_Mutation_p.A896V|AGL_uc001dsl.1_Missense_Mutation_p.A896V|AGL_uc001dsm.1_Missense_Mutation_p.A880V|AGL_uc001dsn.1_Missense_Mutation_p.A879V NM_000642 NP_000635 P35573 GDE_HUMAN Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA. 896 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) CTTAGTCTTGCCTCCAGATTAA 0.351000 18 17 0 0 6.4e-05 0 0 C1orf65 164127 broad.mit.edu 37 1 223568233 223568233 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:223568233C>T uc001hoa.2 + 0 1519 c.1416C>T c.(1414-1416)cgC>cgT p.R472R NM_152610 NP_689823 Q8N715 CA065_HUMAN Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA. 472 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) AGCGGCAACGCGAGCTGAGGG 0.607000 21 9 0 0 0.000442599 0 0 PIK3CA 5290 broad.mit.edu 37 3 178921433 178921433 + Silent SNP A T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:178921433A>T uc003fjk.3 + 4 1072 c.915A>T c.(913-915)ccA>ccT p.P305P NM_006218 NP_006209 P42336 PK3CA_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA. 305 T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TTACAATGCCATCTTATTCCA 0.368000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 103 26 0 0 0.00106085 0 0 CYTH1 9267 broad.mit.edu 37 17 76676303 76676303 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:76676303C>T uc021ueg.1 - 11 1158 c.1087G>A c.(1087-1089)Gag>Aag p.E363K CYTH1_uc010wtv.2_Non-coding_Transcript|CYTH1_uc002jvw.3_Missense_Mutation_p.E362K NM_004762 NP_004753 Q15438 CYH1_HUMAN Homo sapiens cytohesin 1 (CYTH1), transcript variant 1, mRNA. 363 PH. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 19 TCCTTCTCCTCGGGCGTCGGA 0.562000 40 19 0 0 0.000295444 0 0 OBSCN 84033 broad.mit.edu 37 1 228481085 228481085 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:228481085G>A uc009xez.1 + 40 10943 c.10899G>A c.(10897-10899)agG>agA p.R3633R OBSCN_uc001hsn.3_Silent_p.R3633R|OBSCN_uc001hsq.1_Silent_p.R889R NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 3633 Ig-like 37. 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 M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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) AGGGTCTGAGGAACGAAGAGG 0.542000 15 7 0 0 8.12818e-05 0 0 UGT2B10 7365 broad.mit.edu 37 4 69874758 69874758 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr4:69874758C>T uc011cao.1 - 6 1118 c.992G>A c.(991-993)gGa>gAa p.G331E UGT2B10_uc011can.1_Missense_Mutation_p.G247E P36537 UDB10_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA. 375 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 GCCATTGGCTCCACCATGAGT 0.398000 15 36 0 0 0.000374591 0 0 SLTM 79811 broad.mit.edu 37 15 59192026 59192026 + Missense_Mutation SNP T G G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:59192026T>G uc002afp.3 - 6 788 c.700A>C c.(700-702)Act>Cct p.T234P SLTM_uc002afo.3_Missense_Mutation_p.T216P|SLTM_uc002afq.3_Intron|SLTM_uc010bgd.3_Intron|SLTM_uc002afr.1_Missense_Mutation_p.T133P NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA. 234 Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus RNA binding|nucleotide binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TCTTTCACAGTCGTATGAGCT 0.463000 43 65 0 0 0.000781405 0 0 AQP5 362 broad.mit.edu 37 12 50355884 50355885 + Silent DNP CC TT TT TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:50355884_50355885CC>TT uc001rvo.2 + 0 606_607 c.84_85CC>TT c.(82-87)ggcctg>ggTTtg p.28_29GL>GL NM_001651 NP_001642 P55064 AQP5_HUMAN Homo sapiens aquaporin 5 (AQP5), mRNA. 28 carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion apical plasma membrane|integral to plasma membrane protein binding|water channel activity large_intestine(1)|lung(3) 4 TCTTCTTTGGCCTGGGCTCGGC 0.668000 22 12 0 0 6.4e-05 0 0 CNTN2 6900 broad.mit.edu 37 1 205033865 205033866 + Silent DNP CC TT TT TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:205033865_205033866CC>TT uc001hbr.3 + 11 1775_1776 c.1506_1507CC>TT c.(1504-1509)atccta>atTTta p.502_503IL>IL CNTN2_uc001hbq.1_Silent_p.393_394IL>IL|CNTN2_uc001hbs.3_Silent_p.290_291IL>IL NM_005076 NP_005067 Q02246 CNTN2_HUMAN Homo sapiens contactin 2 (axonal) (CNTN2), mRNA. 502 Ig-like C2-type 5. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GCACTGGAATCCTATCTGTGCG 0.550000 98 20 0 0 6.4e-05 0 0 IQCH 64799 broad.mit.edu 37 15 67681217 67681217 + Missense_Mutation SNP A C C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:67681217A>C uc002aqo.2 + 11 1602 c.1505A>C c.(1504-1506)gAg>gCg p.E502A IQCH_uc002aqp.2_Missense_Mutation_p.E254A|IQCH_uc002aqq.2_Missense_Mutation_p.E250A NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA. 502 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) ATGAATGACGAGTTAGTGCTG 0.393000 53 26 0 0 0.000586117 0 0 STARD10 10809 broad.mit.edu 37 11 72492032 72492032 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:72492032C>T uc001osy.3 - 1 379 c.195G>A c.(193-195)ctG>ctA p.L65L ARAP1_uc001osv.3_Intron|STARD10_uc001osz.4_Silent_p.L65L|STARD10_uc001ota.3_Intron|STARD10_uc001otb.3_Silent_p.L65L|MIR4692_uc021qmz.1_5'Flank NM_006645 NP_006636 Q9Y365 PCTL_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 10 (STARD10), mRNA. 65 START. endometrium(4)|large_intestine(1)|lung(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(5;7.08e-07) TGATCTTGTGCAGCGTCCGAT 0.612000 121 39 0 0 0.000509022 0 0 DNMT3A 1788 broad.mit.edu 37 2 25467476 25467476 + Nonsense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:25467476G>A uc002rgc.3 - 13 1857 c.1600C>T c.(1600-1602)Cag>Tag p.Q534* DNMT3A_uc002rgd.3_Nonsense_Mutation_p.Q534*|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Nonsense_Mutation_p.Q345* NM_022552 NP_783328 Q9Y6K1 DNM3A_HUMAN Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA. 534 ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity). regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding p.Y533C(2) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGTAGGACTGGTAGCCGTCG 0.597000 """Mis, F, N, S""" AML 51 8 0 0 0.000442599 0 0 C16orf58 64755 broad.mit.edu 37 16 31503655 31503655 + Missense_Mutation SNP A G G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr16:31503655A>G uc002eci.2 - 10 1106 c.1094T>C c.(1093-1095)gTa>gCa p.V365A C16orf58_uc002ecg.3_5'Flank|C16orf58_uc002ech.2_Missense_Mutation_p.V103A NM_022744 NP_073581 Q96GQ5 CP058_HUMAN Homo sapiens chromosome 16 open reading frame 58 (C16orf58), mRNA. 365 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1) 14 AACTACCTGTACCTGGTCTGG 0.607000 12 15 0 0 0.000219431 0 0 GPR98 84059 broad.mit.edu 37 5 89949028 89949028 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:89949028G>A uc003kju.3 + 19 3733 c.3637G>A c.(3637-3639)Gga>Aga p.G1213R GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 1213 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGTTACAGGTGGATCCCCAGG 0.398000 3 6 0 0 3.59834e-05 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19409605 19409605 + RNA SNP C A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr13:19409605C>A uc010tcj.1 - 0 c.36505G>T Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. TTTTTCTCTTCTAGCATGAGG 0.318000 22 12 7.03913e-09 7.19283e-08 0.00010058 1 0 BCL2L12 83596 broad.mit.edu 37 19 50173529 50173529 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:50173529C>T uc002ppa.3 + 5 1420 c.738C>T c.(736-738)ttC>ttT p.F246F BCL2L12_uc002ppb.3_Silent_p.F245F NM_138639 NP_619580 Q9HB09 B2L12_HUMAN Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA. 246 apoptosis central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 8 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) CCGACTCTTTCGCCCGCCTGG 0.731000 16 5 0 0 8.12818e-05 0 0 PHACTR3 116154 broad.mit.edu 37 20 58381145 58381145 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:58381145G>A uc002yau.3 + 7 1691 c.1224G>A c.(1222-1224)agG>agA p.R408R PHACTR3_uc002yat.3_Silent_p.R405R|PHACTR3_uc010zzw.2_Silent_p.R367R|PHACTR3_uc002yav.3_Silent_p.R367R|PHACTR3_uc002yaw.3_Silent_p.R367R|PHACTR3_uc002yax.3_Silent_p.R297R NM_080672 NP_899067 Q96KR7 PHAR3_HUMAN Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA. 408 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) TGAAGCTAAGGAACCGGCCAA 0.517000 115 136 0 0 0.000781405 0 0 WDR12 55759 broad.mit.edu 37 2 203764315 203764316 + Missense_Mutation DNP GG TT TT TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:203764315_203764316GG>TT uc002uzl.3 - 3 1026_1027 c.276_277CC>AA c.(274-279)ccccag>ccAAag p.Q93K NM_018256 NP_060726 Q9GZL7 WDR12_HUMAN Homo sapiens WD repeat domain 12 (WDR12), mRNA. 93 cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) PeBoW complex|nucleoplasm|preribosome, large subunit precursor protein binding endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1) 13 TGCTCTGGCTGGGGTGCAGTAT 0.396000 434 12 0 0 6.4e-05 0 0 CACNA1G 8913 broad.mit.edu 37 17 48669190 48669190 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:48669190C>T uc002irk.1 + 11 3102 c.2730C>T c.(2728-2730)ctC>ctT p.L910L CACNA1G_uc002iri.1_Silent_p.L910L|CACNA1G_uc002irj.1_Silent_p.L910L|CACNA1G_uc002irl.1_Silent_p.L910L|CACNA1G_uc002irm.1_Silent_p.L910L|CACNA1G_uc002irn.1_Silent_p.L910L|CACNA1G_uc002iro.1_Silent_p.L910L|CACNA1G_uc002irp.1_Silent_p.L910L|CACNA1G_uc002irq.1_Silent_p.L910L|CACNA1G_uc002irr.1_Silent_p.L910L|CACNA1G_uc002irs.1_Silent_p.L910L|CACNA1G_uc002irt.1_Silent_p.L910L|CACNA1G_uc002iru.1_Silent_p.L910L|CACNA1G_uc002irv.1_Silent_p.L910L|CACNA1G_uc002irw.1_Silent_p.L910L|CACNA1G_uc002irx.1_Silent_p.L823L|CACNA1G_uc002iry.1_Silent_p.L823L|CACNA1G_uc002isg.1_Silent_p.L823L|CACNA1G_uc002ish.1_Silent_p.L823L|CACNA1G_uc002isi.1_Silent_p.L823L|CACNA1G_uc002irz.1_Silent_p.L823L|CACNA1G_uc002isa.1_Silent_p.L823L|CACNA1G_uc002isd.1_Silent_p.L823L|CACNA1G_uc002isb.1_Silent_p.L823L|CACNA1G_uc002isc.1_Silent_p.L823L|CACNA1G_uc002ise.1_Silent_p.L823L|CACNA1G_uc002isf.1_Silent_p.L823L NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 910 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) ACTCCTTGCTCTGGGCCATCG 0.597000 54 13 0 0 0.000151284 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58302877 58302877 + Missense_Mutation SNP C A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:58302877C>A uc002aex.3 - 3 736 c.463G>T c.(463-465)Gat>Tat p.D155Y ALDH1A2_uc010ugv.2_Missense_Mutation_p.D134Y|ALDH1A2_uc002aey.3_Missense_Mutation_p.D155Y|ALDH1A2_uc010ugw.2_Missense_Mutation_p.D126Y|ALDH1A2_uc002aew.3_Missense_Mutation_p.D59Y NM_003888 NP_733798 O94788 AL1A2_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA. 155 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) TGAATTTTATCAGCCCAGCCT 0.443000 51 14 2.61681e-11 2.69401e-10 0.000219431 1 0 NUP37 79023 broad.mit.edu 37 12 102468181 102468181 + Missense_Mutation SNP C G G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:102468181C>G uc001tjc.3 - 8 997 c.932G>C c.(931-933)tGt>tCt p.C311S NM_024057 NP_076962 Q8NFH4 NUP37_HUMAN Homo sapiens nucleoporin 37kDa (NUP37), mRNA. 311 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|condensed chromosome kinetochore|cytosol protein binding endometrium(3)|large_intestine(3)|lung(10)|ovary(1) 17 TCCAATTACACACAGAGGGAG 0.393000 19 3 0 0 6.4e-05 0 0 NANOG 79923 broad.mit.edu 37 12 7947353 7947353 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:7947353C>T uc009zfy.1 + 3 796 c.580C>T c.(580-582)Cca>Tca p.P194S NM_024865 NP_079141 Q9H9S0 NANOG_HUMAN Homo sapiens Nanog homeobox (NANOG), mRNA. 194 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Kidney(36;0.0872) TGGGAACCTTCCAATGTGGAG 0.542000 5 20 0 0 0.000295444 0 0 BSG 682 broad.mit.edu 37 19 582305 582305 + Splice_Site SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:582305G>A uc002loz.3 + 7 1168 c.1070_splice c.e7-1 p.D357_splice BSG_uc002loy.3_Splice_Site_p.D177_splice|BSG_uc021ulx.1_Splice_Site_p.D148_splice|BSG_uc002lpa.3_Splice_Site_p.D241_splice|BSG_uc002lpc.3_Splice_Site_p.D404_splice NM_001728 NP_001719 P35613 BASI_HUMAN Homo sapiens basigin (Ok blood group) (BSG), transcript variant 1, mRNA. 357 Poly-Asp. blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process Golgi membrane|integral to membrane|melanosome lactate transmembrane transporter activity|mannose binding|protein binding central_nervous_system(1)|endometrium(3)|lung(1) 5 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) TCCTTCTTCAGATGACGACGC 0.637000 30 19 0 0 0.00047179 0 0 SELS 55829 broad.mit.edu 37 15 101814677 101814677 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:101814677G>A uc021sxu.1 - 4 510 c.432C>T c.(430-432)tcC>tcT p.S144S SELS_uc021sxv.1_Silent_p.S144S NM_203472 Q9BQE4 SELS_HUMAN Homo sapiens selenoprotein S (SELS), transcript variant 1, mRNA. 144 ER overload response|ER-associated protein catabolic process|anti-apoptosis|cell redox homeostasis|cellular response to insulin stimulus|cellular response to lipopolysaccharide|cellular response to oxidative stress|endoplasmic reticulum unfolded protein response|negative regulation of acute inflammatory response to antigenic stimulus|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of interleukin-6 production|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of tumor necrosis factor production|regulation of gluconeogenesis|regulation of nitric oxide metabolic process|response to glucose stimulus|response to redox state|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane|low-density lipoprotein particle|microsome|plasma membrane|very-low-density lipoprotein particle antioxidant activity|enzyme binding|receptor activity|selenium binding Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CAGATGAAGTGGAAGGCCCAG 0.458000 6 8 0 0 0.000274275 0 0 DIDO1 11083 broad.mit.edu 37 20 61511949 61511949 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:61511949C>T uc002ydr.2 - 15 5671 c.5359G>A c.(5359-5361)Gct>Act p.A1787T DIDO1_uc002yds.2_Missense_Mutation_p.A1787T NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 1787 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TCGTTAGAAGCGATATTCTCT 0.617000 173 15 0 0 0.000566183 0 0 GPR112 139378 broad.mit.edu 37 X 135427956 135427956 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chrX:135427956C>T uc004ezu.1 + 5 2382 c.2091C>T c.(2089-2091)tcC>tcT p.S697S GPR112_uc010nsb.1_Silent_p.S492S|GPR112_uc010nsc.1_Silent_p.S464S NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 697 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AATATTTATCCGCAACTACCA 0.398000 2 24 0 0 0.00047179 0 0 PML 5371 broad.mit.edu 37 15 74290560 74290560 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:74290560C>T uc002awv.3 + 1 485 c.345C>T c.(343-345)cgC>cgT p.R115R PML_uc002awj.1_Silent_p.R115R|PML_uc002awm.3_Silent_p.R115R|PML_uc002awl.3_Silent_p.R115R|PML_uc002awk.3_Silent_p.R115R|PML_uc002awn.3_Silent_p.R115R|PML_uc002awo.3_Silent_p.R115R|PML_uc002awp.3_Silent_p.R115R|PML_uc002awq.3_Silent_p.R115R|PML_uc002awr.3_Silent_p.R115R|PML_uc002aws.3_Silent_p.R115R|PML_uc002awt.3_Silent_p.R115R|PML_uc002awu.3_Silent_p.R115R|PML_uc010ule.2_Intron|PML_uc002aww.1_Silent_p.R30R NM_033238 NP_150241 P29590 PML_HUMAN Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA. 115 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|PML body organization|cell cycle arrest|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent PML body|cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus DNA binding|SUMO binding|cobalt ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 TGCAGCGGCGCCTGTCGGTGT 0.642000 T """RARA, PAX5""" """APL, ALL""" 24 25 0 0 0.000586117 0 0 HERC3 8916 broad.mit.edu 37 4 89591116 89591116 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr4:89591116C>T uc003hrw.1 + 14 1905 c.1739C>T c.(1738-1740)cCc>cTc p.P580L HERC3_uc011cdn.1_Missense_Mutation_p.P462L|HERC3_uc011cdo.1_Missense_Mutation_p.P24L NM_014606 NP_055421 Q15034 HERC3_HUMAN Homo sapiens hect domain and RLD 3 (HERC3), mRNA. 580 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity p.P580P(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) TTCTTAATTCCCGTACTGTTT 0.428000 14 22 0 0 0.000229342 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140801022 140801022 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:140801022C>T uc003lkq.2 + 0 486 c.228C>T c.(226-228)ttC>ttT p.F76F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Silent_p.F76F|PCDHGC5_uc003lkp.2_Silent_p.F76F NM_018914 NP_061737 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA. 75 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACAGCTTTTCGCTGTGAATC 0.587000 17 34 0 0 0.000814825 0 0 CCDC38 120935 broad.mit.edu 37 12 96311013 96311013 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:96311013C>T uc001tek.2 - 3 432 c.198G>A c.(196-198)atG>atA p.M66I NM_182496 NP_872302 Q502W7 CCD38_HUMAN Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA. 66 breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AATGACTCTTCATTCTGGATG 0.378000 22 15 0 0 0.000308642 0 0 RAB11FIP3 9727 broad.mit.edu 37 16 476580 476580 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr16:476580C>T uc002chf.3 + 0 913 c.574C>T c.(574-576)Ccc>Tcc p.P192S NM_014700 NP_055515 O75154 RFIP3_HUMAN Homo sapiens RAB11 family interacting protein 3 (class II) (RAB11FIP3), transcript variant 1, mRNA. 192 Pro-rich. cell cycle|cytokinesis|endocytic recycling|protein transport centrosome|cleavage furrow|midbody|recycling endosome membrane ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1) 12 Hepatocellular(16;0.0218) CCAGACCCACCCCCTTCCGAG 0.731000 15 4 0 0 0.000602214 0 0 FOXR2 139628 broad.mit.edu 37 X 55650514 55650514 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chrX:55650514G>A uc004duo.3 + 0 682 c.370G>A c.(370-372)Gag>Aag p.E124K NM_198451 NP_940853 Q6PJQ5 FOXR2_HUMAN Homo sapiens forkhead box R2 (FOXR2), mRNA. 124 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 TAACTGCTCAGAGGACAAAGT 0.517000 1 12 0 0 0.00010058 0 0 LRP1B 53353 broad.mit.edu 37 2 141460024 141460024 + Nonsense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:141460024C>T uc002tvj.1 - 37 7094 c.6122G>A c.(6121-6123)tGg>tAg p.W2041* NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 2041 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GCCATTCGGCCATGCTATTCC 0.438000 TSP Lung(27;0.18) 16 4 0 0 0.000602214 0 0 KCNK9 51305 broad.mit.edu 37 8 140631316 140631316 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr8:140631316C>T uc003yvf.1 - 1 374 c.310G>A c.(310-312)Gat>Aat p.D104N KCNK9_uc003yvg.1_Missense_Mutation_p.D104N|KCNK9_uc003yve.1_Non-coding_Transcript NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA. 104 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) TTGCCCGCATCGGTGCCAGGT 0.612000 20 8 0 0 0.000274275 0 0 C6orf15 29113 broad.mit.edu 37 6 31079317 31079318 + Missense_Mutation DNP CC TT TT rs147375238 byFrequency TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:31079317_31079318CC>TT uc003nsk.1 - 1 818_819 c.818_819GG>AA c.(817-819)ggg>gAA p.G273E NM_014070 NP_054789 Q6UXA7 CF015_HUMAN Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA. 273 Gly-rich. p.G273R(1) endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 GATTAATATTCCCCCAGCTGCC 0.500000 91 32 0 0 6.4e-05 0 0 WBSCR17 64409 broad.mit.edu 37 7 71177002 71177002 + Splice_Site SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:71177002G>A uc003tvy.3 + 11 1669 c.1669_splice c.e11-1 p.N557_splice WBSCR17_uc003tvz.3_Splice_Site_p.N256_splice NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 557 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CCCCCTCCCAGAATGGAGCCA 0.562000 49 46 0 0 0.000781405 0 0 OR10A7 121364 broad.mit.edu 37 12 55615394 55615394 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:55615394G>A uc010spf.2 + 0 586 c.586G>A c.(586-588)Gaa>Aaa p.E196K NM_001005280 NP_001005280 Q8NGE5 O10A7_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA. 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 AACCATGTATGAAATGCAAGC 0.443000 22 15 0 0 0.000308642 0 0 ASNSD1 54529 broad.mit.edu 37 2 190532655 190532655 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:190532655C>T uc002uqt.3 + 4 2064 c.1630C>T c.(1630-1632)Cat>Tat p.H544Y NM_019048 NP_061921 Q9NWL6 ASND1_HUMAN Homo sapiens asparagine synthetase domain containing 1 (ASNSD1), mRNA. 544 Asparagine synthetase. asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) TATTGGTGATCATGGAAAAGA 0.358000 79 17 0 0 0.000958276 0 0 GAL3ST1 9514 broad.mit.edu 37 22 30953356 30953357 + Missense_Mutation DNP GG AA AA TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr22:30953356_30953357GG>AA uc003aig.1 - 2 163_164 c.23_24CC>TT c.(22-24)ccc>cTT p.P8L GAL3ST1_uc003aih.1_Missense_Mutation_p.P8L|GAL3ST1_uc003aii.1_Missense_Mutation_p.P8L|GAL3ST1_uc010gvz.1_Missense_Mutation_p.P8L NM_004861 NP_004852 Q99999 G3ST1_HUMAN Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA. 8 protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 TGGACTCCCAGGGCTTCTTCTG 0.653000 34 52 0 0 6.4e-05 0 0 BLNK 29760 broad.mit.edu 37 10 97983740 97983740 + Nonsense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:97983740G>A uc001kls.4 - 5 545 c.367C>T c.(367-369)Cga>Tga p.R123* BLNK_uc001kme.4_Nonsense_Mutation_p.R41*|BLNK_uc001klt.4_Nonsense_Mutation_p.R37*|BLNK_uc009xvc.3_Intron|BLNK_uc001klu.4_Nonsense_Mutation_p.R41*|BLNK_uc001klv.4_Intron|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Nonsense_Mutation_p.R123*|BLNK_uc001kly.4_Nonsense_Mutation_p.R123*|BLNK_uc001klz.4_Intron|BLNK_uc001kma.4_Nonsense_Mutation_p.R123*|BLNK_uc001kmb.4_Intron|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_Nonsense_Mutation_p.R41*|BLNK_uc009xvd.3_Intron NM_013314 NP_037446 Q8WV28 BLNK_HUMAN Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA. 123 Pro-rich. B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) TGGCTTGATCGATTGTCTTGA 0.498000 55 56 0 0 0.000781405 0 0 SIPA1 6494 broad.mit.edu 37 11 65417243 65417244 + Missense_Mutation DNP CC TT TT TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:65417243_65417244CC>TT uc001ofb.2 + 11 2820_2821 c.2653_2654CC>TT c.(2653-2655)ccc>TTc p.P885F SIPA1_uc010rom.1_Missense_Mutation_p.P783F|SIPA1_uc001ofd.2_Missense_Mutation_p.P885F NM_006747 NP_694985 Q96FS4 SIPA1_HUMAN Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA. 885 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 GCCAGGCAGTCCCAGTGGCTCT 0.599000 36 17 0 0 6.4e-05 0 0 GRN 2896 broad.mit.edu 37 17 42429791 42429791 + Missense_Mutation SNP T G G rs63751698 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:42429791T>G uc002igp.1 + 11 1715 c.1496T>G c.(1495-1497)gTg>gGg p.V499G NM_002087 NP_002078 P28799 GRN_HUMAN Homo sapiens granulin (GRN), mRNA. 499 signal transduction extracellular space cytokine activity|growth factor activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) GAGAAGGAAGTGGTCTCTGCC 0.632000 49 7 0 0 0.000442599 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39253944 39253944 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:39253944G>A uc010wfo.2 - 0 432 c.393C>T c.(391-393)atC>atT p.I131I NM_031960 NP_114166 Q9BYQ9 KRA48_HUMAN Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA. 131 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 agcagctggagatgctgcagc 0.672000 1 13 0 0 0.000151284 0 0 WNT7A 7476 broad.mit.edu 37 3 13860703 13860703 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:13860703G>A uc003bye.1 - 3 1093 c.788C>T c.(787-789)cCc>cTc p.P263L NM_004625 NP_004616 O00755 WNT7A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA. 263 Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 CGTGTCCATGGGCTTGCGGTA 0.627000 69 38 0 0 0.000589545 0 0 ZNF235 9310 broad.mit.edu 37 19 44792789 44792789 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:44792789C>T uc002oza.4 - 4 902 c.799G>A c.(799-801)Gaa>Aaa p.E267K ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Missense_Mutation_p.E263K NM_004234 NP_004225 Q14590 ZN235_HUMAN Homo sapiens zinc finger protein 235 (ZNF235), mRNA. 267 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) TCTTCACATTCATTACCCTGG 0.418000 32 5 0 0 0.000602214 0 0 NIPBL 25836 broad.mit.edu 37 5 37022475 37022475 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:37022475C>T uc003jkl.4 + 28 6056 c.5557C>T c.(5557-5559)Ctg>Ttg p.L1853L NIPBL_uc003jkk.4_Silent_p.L1853L NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA. 1853 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TTATGATATGCTGATTGAAAG 0.333000 36 16 0 0 0.00074312 0 0 DNAH7 56171 broad.mit.edu 37 2 196681368 196681368 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:196681368C>T uc002utj.4 - 50 9846 c.9745G>A c.(9745-9747)Gaa>Aaa p.E3249K NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 3249 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GCCAAAATTTCTGATTTCTCT 0.328000 25 10 0 0 0.000673444 0 0 POLR1B 84172 broad.mit.edu 37 2 113333151 113333151 + Missense_Mutation SNP C G G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:113333151C>G uc002thw.2 + 14 3833 c.3253C>G c.(3253-3255)Ccc>Gcc p.P1085A POLR1B_uc010fkn.2_Missense_Mutation_p.P1029A|POLR1B_uc002thx.2_Missense_Mutation_p.P946A|POLR1B_uc010fko.2_Missense_Mutation_p.P902A|POLR1B_uc010fkp.2_Missense_Mutation_p.P524A|POLR1B_uc002thy.2_Missense_Mutation_p.P946A|POLR1B_uc010yxo.1_Missense_Mutation_p.P862A NM_019014 NP_061887 Q9H9Y6 RPA2_HUMAN Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA. 1085 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 GGAGAAGCCACCCCCTTCTTG 0.483000 27 27 0 0 0.00106085 0 0 FAM83A 84985 broad.mit.edu 37 8 124195541 124195541 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr8:124195541G>A uc003ypv.3 + 1 2459 c.445G>A c.(445-447)Gac>Aac p.D149N FAM83A_uc003ypw.3_Missense_Mutation_p.D149N|U3_uc022bai.1_5'Flank|FAM83A_uc003ypx.3_Missense_Mutation_p.D149N|FAM83A_uc003ypy.3_Missense_Mutation_p.D149N|FAM83A_uc003ypz.3_Missense_Mutation_p.D149N NM_032899 NP_116288 Q86UY5 FA83A_HUMAN Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA. 149 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) CAACATCAGAGACCTCGTCCG 0.597000 35 20 0 0 0.000958276 0 0 GABRG2 2566 broad.mit.edu 37 5 161569262 161569262 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:161569262G>A uc010jjc.3 + 7 1340 c.982G>A c.(982-984)Gtc>Atc p.V328I GABRG2_uc003lyy.4_Missense_Mutation_p.V288I|GABRG2_uc003lyz.4_Missense_Mutation_p.V288I|GABRG2_uc011dej.2_Missense_Mutation_p.V193I NM_198903 NP_944493 P18507 GBRG2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA. 288 K -> M (in GEFS+3). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) ACTCATTGTCGTCCTATCCTG 0.433000 37 97 0 0 0.000781405 0 0 DCLK3 85443 broad.mit.edu 37 3 36779958 36779958 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:36779958C>T uc003cgi.2 - 1 684 c.193G>A c.(193-195)Gaa>Aaa p.E65K NM_033403 NP_208382 Q9C098 DCLK3_HUMAN Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA. 65 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 CCTGCAACTTCGCTGCAGCTC 0.612000 60 63 0 0 0.000781405 0 0 YSK4 80122 broad.mit.edu 37 2 135738899 135738899 + Missense_Mutation SNP T C C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:135738899T>C uc002tue.1 - 8 3443 c.3412A>G c.(3412-3414)Att>Gtt p.I1138V YSK4_uc002tuf.1_Missense_Mutation_p.I320V|YSK4_uc010fnc.1_Missense_Mutation_p.I272V|YSK4_uc010fnd.1_Missense_Mutation_p.I1025V|YSK4_uc010zbg.1_Missense_Mutation_p.I270V|YSK4_uc021vpz.1_5'UTR|YSK4_uc002tuh.4_Missense_Mutation_p.I866V|YSK4_uc002tui.4_3'UTR NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA. 1138 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(221;0.112) TCCATGAAAATGCTCACAGTG 0.408000 45 17 0 0 0.000958276 0 0 TWIST1 7291 broad.mit.edu 37 7 19156395 19156395 + Missense_Mutation SNP T C C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:19156395T>C uc003sum.3 - 0 901 c.550A>G c.(550-552)Agc>Ggc p.S184G TWIST1_uc022aah.1_Missense_Mutation_p.S184G NM_000474 NP_000465 Q15672 TWST1_HUMAN Homo sapiens twist homolog 1 (Drosophila) (TWIST1), mRNA. 184 Sufficient for transactivation activity (By similarity). aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization nucleus E-box binding|bHLH transcription factor binding|sequence-specific DNA binding RNA polymerase II transcription factor activity lung(2)|upper_aerodigestive_tract(1) 3 AAGGCGTAGCTGAGCCGCTCG 0.657000 15 6 0 0 8.12818e-05 0 0 ICA1L 130026 broad.mit.edu 37 2 203684597 203684597 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:203684597G>A uc002uzh.1 - 5 549 c.385C>T c.(385-387)Cgt>Tgt p.R129C ICA1L_uc002uzi.1_Missense_Mutation_p.R129C|ICA1L_uc021vvi.1_Non-coding_Transcript|ICA1L_uc002uzj.3_Missense_Mutation_p.R129C NM_138468 NP_612477 Q8NDH6 ICA1L_HUMAN Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA. 129 AH. breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGCTTCAGACGAGACAGAGGA 0.423000 237 79 0 0 0.000781405 0 0 GTF2IRD2B 389524 broad.mit.edu 37 7 74564144 74564144 + Missense_Mutation SNP C A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:74564144C>A uc003ubt.3 + 15 2106 c.1891C>A c.(1891-1893)Ctt>Att p.L631I GTF2IRD2B_uc010lcd.3_Missense_Mutation_p.L384I|GTF2IRD2B_uc003ubu.3_Missense_Mutation_p.L461I NM_001003795 NP_001003795 Q6EKJ0 GTD2B_HUMAN Homo sapiens GTF2I repeat domain containing 2B (GTF2IRD2B), mRNA. 631 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|ovary(2)|prostate(1) 4 caataacgggcttgtcacaaa 0.507000 57 9 4.36969e-10 4.47622e-09 0.000151284 1 0 SLC22A16 85413 broad.mit.edu 37 6 110763784 110763784 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:110763784G>A uc003puf.3 - 3 913 c.846C>T c.(844-846)atC>atT p.I282I SLC22A16_uc003pue.3_Silent_p.I263I NM_033125 NP_149116 Q86VW1 S22AG_HUMAN Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA. 282 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) AACAGCACAGGATAAAGGGGA 0.488000 25 22 0 0 0.000375601 0 0 NFKBIB 4793 broad.mit.edu 37 19 39396030 39396030 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:39396030C>T uc002ojw.3 + 2 577 c.474C>T c.(472-474)ccC>ccT p.P158P NFKBIB_uc010egk.2_Silent_p.P72P|NFKBIB_uc002ojx.3_Silent_p.P126P|NFKBIB_uc002ojy.3_Silent_p.P158P NM_002503 NP_001230045 Q15653 IKBB_HUMAN Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta (NFKBIB), transcript variant 1, mRNA. 158 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 8 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) GGGAAGCCCCCGACACCTACC 0.687000 13 4 0 0 0.00024832 0 0 ASXL2 55252 broad.mit.edu 37 2 25990459 25990459 + Silent SNP G C C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:25990459G>C uc002rgs.2 - 6 989 c.768C>G c.(766-768)ctC>ctG p.L256L ASXL2_uc002rgt.1_5'UTR|U2_uc021ves.1_5'Flank NM_018263 NP_060733 Q76L83 ASXL2_HUMAN Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA. 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TACTGGTATGGAGTCTCTCAG 0.393000 51 29 0 0 0.000409698 0 0 ETV1 2115 broad.mit.edu 37 7 13935665 13935665 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:13935665G>A uc021zzz.1 - 11 1347 c.1260C>T c.(1258-1260)gcC>gcT p.A420A ETV1_uc021zzt.1_Silent_p.A380A|ETV1_uc021zzu.1_Silent_p.A317A|ETV1_uc021zzv.1_Silent_p.A362A|ETV1_uc021zzw.1_3'UTR|ETV1_uc021zzx.1_3'UTR|ETV1_uc021zzy.1_3'UTR|ETV1_uc022aaa.1_Silent_p.A402A|ETV1_uc022aab.1_3'UTR|ETV1_uc003ssw.4_Silent_p.A397A|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_3'UTR|ETV1_uc022aad.1_3'UTR|ETV1_uc021zzs.1_5'Flank NM_004956 NP_004947 P50549 ETV1_HUMAN Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA. 420 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 TGGAGAAAAGGGCTTCTGGAT 0.483000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 16 15 0 0 0.000566183 0 0 DDX11 1663 broad.mit.edu 37 12 31249911 31249911 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:31249911C>T uc001rjt.1 + 16 2000 c.1749C>T c.(1747-1749)atC>atT p.I583I DDX11_uc001rjr.1_Silent_p.I583I|DDX11_uc001rjs.1_Silent_p.I583I|DDX11_uc001rju.1_Silent_p.I261I|DDX11_uc001rjv.1_Silent_p.I583I|DDX11_uc001rjw.1_Silent_p.I557I|DDX11_uc009zjn.1_Non-coding_Transcript NM_152438 NP_689651 Q96FC9 DDX11_HUMAN Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA. 583 G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GCAGGGTCATCCTGAGCCGCC 0.597000 Multiple Myeloma(12;0.14) 20 9 0 0 0.000274275 0 0 MYO9A 4649 broad.mit.edu 37 15 72192092 72192092 + Nonsense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:72192092G>A uc002atl.4 - 23 3879 c.3406C>T c.(3406-3408)Caa>Taa p.Q1136* MYO9A_uc010biq.3_Nonsense_Mutation_p.Q756*|MYO9A_uc002atn.1_Nonsense_Mutation_p.Q1117*|MYO9A_uc002atk.3_5'Flank|MYO9A_uc002atm.1_5'Flank NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN Homo sapiens myosin IXA (MYO9A), mRNA. 1136 IQ 4.|Neck or regulatory domain. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CTTTGTTCTTGGTACCTTTTA 0.368000 36 28 0 0 0.000279167 0 0 HAPLN1 1404 broad.mit.edu 37 5 82948428 82948428 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:82948428C>T uc003kim.3 - 1 387 c.316G>A c.(316-318)Gga>Aga p.G106R HAPLN1_uc003kin.3_Missense_Mutation_p.G106R NM_001884 NP_001875 P10915 HPLN1_HUMAN Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA. 106 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) TGGTAGCCTCCATAGGTTTTT 0.433000 68 14 0 0 0.000422831 0 0 GPR98 84059 broad.mit.edu 37 5 90084111 90084111 + Missense_Mutation SNP A T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:90084111A>T uc003kju.3 + 67 13973 c.13877A>T c.(13876-13878)aAa>aTa p.K4626I GPR98_uc003kjt.3_Missense_Mutation_p.K2332I|GPR98_uc003kjw.3_Missense_Mutation_p.K287I NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 4626 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCCAGAGCTAAAGATGTTACA 0.299000 48 15 0 0 0.000422831 0 0 ZNF614 80110 broad.mit.edu 37 19 52521669 52521670 + Missense_Mutation DNP GG AT AT TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:52521669_52521670GG>AT uc002pyj.3 - 2 495_496 c.93_94CC>AT c.(91-96)aacctg>aaATtg p.N31K ZNF614_uc002pyi.4_Missense_Mutation_p.N31K|ZNF614_uc010epj.3_5'UTR NM_025040 NP_079316 Q8N883 ZN614_HUMAN Homo sapiens zinc finger protein 614 (ZNF614), mRNA. 31 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TCCCGGTACAGGTTCTTCTGAG 0.500000 33 36 0 0 6.4e-05 0 0 C14orf21 161424 broad.mit.edu 37 14 24771298 24771298 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr14:24771298C>T uc001wol.1 + 3 999 c.936C>T c.(934-936)tcC>tcT p.S312S C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.2_5'Flank|DHRS1_uc001wok.3_5'Flank NM_174913 NP_777573 Q86U38 CN021_HUMAN Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA. 312 RNA binding breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3) 17 GBM - Glioblastoma multiforme(265;0.0185) CTCGCGGTTCCTCAGTAGATG 0.498000 38 58 0 0 0.000781405 0 0 PDK2 5164 broad.mit.edu 37 17 48184467 48184467 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:48184467G>A uc002iqc.3 + 5 796 c.635G>A c.(634-636)tGt>tAt p.C212Y PDK2_uc002iqb.3_Missense_Mutation_p.C148Y|PDK2_uc021tzx.1_Missense_Mutation_p.C148Y NM_002611 NP_001186828 Q15119 PDK2_HUMAN Homo sapiens pyruvate dehydrogenase kinase, isozyme 2 (PDK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 212 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|nucleus ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 20 AAGCTCCTGTGTGACAAGTAT 0.567000 Autosomal Dominant Polycystic Kidney Disease 74 12 0 0 0.000308642 0 0 C1orf173 127254 broad.mit.edu 37 1 75037720 75037720 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:75037720C>T uc001dgg.3 - 13 3893 c.3674G>A c.(3673-3675)gGa>gAa p.G1225E NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 1225 Glu-rich. p.G1225E(2) 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 CTGCACCTTTCCTGCTGGCTC 0.627000 50 13 0 0 0.000151284 0 0 GPI 2821 broad.mit.edu 37 19 34887329 34887329 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:34887329C>T uc002nvf.3 + 13 1473 c.1303C>T c.(1303-1305)Cac>Tac p.H435Y GPI_uc010xrv.2_Missense_Mutation_p.H407Y|GPI_uc002nvg.2_Missense_Mutation_p.H396Y|GPI_uc010xrw.2_Missense_Mutation_p.H368Y|GPI_uc002nvi.2_Missense_Mutation_p.H59Y NM_000175 NP_000166 P06744 G6PI_HUMAN Homo sapiens glucose-6-phosphate isomerase (GPI), transcript variant 2, mRNA. 396 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) CCAGCTCATCCACCAAGGTAG 0.567000 27 15 0 0 0.000308642 0 0 PGA5 5222 broad.mit.edu 37 11 61017253 61017253 + Missense_Mutation SNP G A A rs139795742 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:61017253G>A uc001nqz.3 + 6 941 c.886G>A c.(886-888)Gac>Aac p.D296N NM_014224 NP_055039 P00790 PEPA_HUMAN Homo sapiens pepsinogen 5, group I (pepsinogen A) (PGA5), mRNA. 296 digestion|proteolysis extracellular region aspartic-type endopeptidase activity large_intestine(1)|skin(1) 2 CATCCAGAGCGACATCGGAGC 0.612000 128 51 0 0 0.000781405 0 0 CRIM1 51232 broad.mit.edu 37 2 36691751 36691751 + Missense_Mutation SNP G T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:36691751G>T uc002rpd.3 + 4 1010 c.944G>T c.(943-945)gGc>gTc p.G315V NM_016441 NP_057525 Q9NZV1 CRIM1_HUMAN Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA. 315 nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity p.G315G(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) GTCTCTCGTGGCGATGGGACA 0.498000 128 26 1.66031e-10 1.70502e-09 0.000586117 1 0 AY455283 0 broad.mit.edu 37 12 8048124 8048124 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:8048124C>T uc001qtp.1 + 1 112 c.32C>T c.(31-33)tCt>tTt p.S11F SubName: Full=Uncharacterized protein; AGCCATGATTCTTCCACCAGT 0.438000 63 36 0 0 0.000509022 0 0 SLC24A3 57419 broad.mit.edu 37 20 19261652 19261652 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:19261652G>A uc002wrl.3 + 1 389 c.192G>A c.(190-192)gcG>gcA p.A64A LOC100130264_uc010zsd.1_Intron NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA. 64 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GGATGATGGCGAGGAAGCTGA 0.522000 8 31 0 0 0.000339439 0 0 CD2 914 broad.mit.edu 37 1 117311185 117311185 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:117311185C>T uc001egu.4 + 4 865 c.836C>T c.(835-837)tCc>tTc p.S279F NM_001767 NP_001758 P06729 CD2_HUMAN Homo sapiens CD2 molecule (CD2), mRNA. 279 T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) CCAGCAACTTCCCAACATCCT 0.582000 4 19 0 0 0.000958276 0 0 EMILIN2 84034 broad.mit.edu 37 18 2892139 2892139 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr18:2892139G>A uc002kln.3 + 3 2173 c.2014G>A c.(2014-2016)Gag>Aag p.E672K NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA. 672 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) TCAGCTGGAGGAGAGGTGGCA 0.612000 56 20 0 0 0.000175454 0 0 KRT12 3859 broad.mit.edu 37 17 39019850 39019850 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:39019850G>A uc002hvk.2 - 4 1006 c.982C>T c.(982-984)Cgt>Tgt p.R328C NM_000223 NP_000214 Q99456 K1C12_HUMAN Homo sapiens keratin 12 (KRT12), mRNA. 328 Coil 2.|Rod. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) ATCTCCTTACGGAGCTCCCCG 0.567000 49 17 0 0 0.000422831 0 0 MGC16703 113691 broad.mit.edu 37 22 21363392 21363392 + RNA SNP G A A rs28522842 by1000genomes TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr22:21363392G>A uc002zty.4 - 2 c.1064C>T MGC16703_uc010gss.2_Non-coding_Transcript|THAP7-AS1_uc002ztv.3_Non-coding_Transcript Homo sapiens tubulin, alpha pseudogene (MGC16703), non-coding RNA. GGGCCCCATCGAATCACAGGG 0.562000 33 10 0 0 0.000673444 0 0 ITGB2 3689 broad.mit.edu 37 21 46323296 46323297 + Missense_Mutation DNP GG AA AA TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr21:46323296_46323297GG>AA uc002zgd.2 - 3 526_527 c.482_483CC>TT c.(481-483)acc>aTT p.T161I ITGB2_uc002zgf.3_Missense_Mutation_p.T161I|ITGB2_uc011afl.1_Missense_Mutation_p.T83I|ITGB2_uc010gpw.2_Intron|ITGB2_uc002zgg.2_Missense_Mutation_p.T161I NM_001127491 NP_001120963 P05107 ITB2_HUMAN Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA. 161 VWFA. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) GGCCGGACTCGGTGATCTCGTT 0.594000 47 32 0 0 6.4e-05 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139544 142139544 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:142139544G>A uc003vyt.3 - 1 126 c.81C>T c.(79-81)ccC>ccT p.P27P TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; CTTTGTACCTGGGAGACTGGG 0.493000 36 13 0 0 0.000219431 0 0 MAGED1 9500 broad.mit.edu 37 X 51638164 51638164 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chrX:51638164G>A uc004dpn.3 + 3 419 c.229G>A c.(229-231)Gaa>Aaa p.E77K MAGED1_uc004dpm.3_Missense_Mutation_p.E21K|MAGED1_uc004dpo.3_Missense_Mutation_p.E21K|MAGED1_uc011mnx.1_Missense_Mutation_p.E21K NM_001005333 NP_001005333 Q9Y5V3 MAGD1_HUMAN Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA. 21 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) GGCCTCCGTAGAAGACAGCGC 0.592000 Multiple Myeloma(10;0.10) 2 15 0 0 0.000308642 0 0 SLC6A3 6531 broad.mit.edu 37 5 1441597 1441597 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:1441597G>A uc003jck.3 - 2 421 c.295C>T c.(295-297)Ctg>Ttg p.L99L NM_001044 NP_001035 Q01959 SC6A3_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA. 99 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) TAGGGGACCAGGAAGGCACCT 0.602000 35 20 0 0 0.000375601 0 0 ZPLD1 131368 broad.mit.edu 37 3 102176642 102176642 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:102176642C>T uc003dvt.1 + 4 675 c.575C>T c.(574-576)tCt>tTt p.S192F ZPLD1_uc003dvs.1_Missense_Mutation_p.S176F|ZPLD1_uc011bhg.1_Missense_Mutation_p.S176F NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA. 176 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 GCGGCTATTTCTGTGAGAGAG 0.373000 74 58 0 0 0.000781405 0 0 FLJ38723 0 broad.mit.edu 37 15 62539289 62539289 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:62539289C>T uc002ajj.1 - 4 391 c.383G>A c.(382-384)aGa>aAa p.R128K FLJ38723_uc002ain.1_Non-coding_Transcript|DQ575559_uc010uhp.1_Non-coding_Transcript|DQ572791_uc002ajt.3_5'Flank|DQ583624_uc021sof.1_5'Flank|DQ596164_uc021sog.1_5'Flank|DQ590682_uc002ajw.3_5'Flank|DQ578824_uc010uhq.2_5'Flank|DQ573543_uc002ajx.3_5'Flank|DQ596057_uc002ajy.3_5'Flank RecName: Full=Golgin subfamily A member 2-like protein 4; GCTGTGCACTCTCTCCTCCCT 0.612000 11 7 0 0 0.000157383 0 0 ITGB4 3691 broad.mit.edu 37 17 73745079 73745079 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:73745079C>T uc002jpg.3 + 26 3456 c.3269C>T c.(3268-3270)gCc>gTc p.A1090V ITGB4_uc002jph.3_Missense_Mutation_p.A1090V|ITGB4_uc002jpi.4_Missense_Mutation_p.A1090V|ITGB4_uc002jpj.3_Missense_Mutation_p.A1090V NM_000213 NP_000204 P16144 ITB4_HUMAN Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA. 1090 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) AAGTTTGGGGCCCACCTGGGC 0.647000 37 15 0 0 0.000566183 0 0 TMEM17 200728 broad.mit.edu 37 2 62728427 62728427 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:62728427G>A uc002sbt.2 - 3 854 c.514C>T c.(514-516)Cgt>Tgt p.R172C TMEM17_uc002sbu.2_3'UTR|TMEM17_uc002sbv.1_3'UTR NM_198276 NP_938017 Q86X19 TMM17_HUMAN Homo sapiens transmembrane protein 17 (TMEM17), mRNA. 172 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 9 Lung NSC(7;0.0274)|all_lung(7;0.0568) LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169) AGGTGGAAACGAACTGCCAAC 0.428000 111 20 0 0 0.000132079 0 0 ATP13A3 79572 broad.mit.edu 37 3 194146149 194146149 + Missense_Mutation SNP T A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:194146149T>A uc003fty.4 - 28 3637 c.3235A>T c.(3235-3237)Att>Ttt p.I1079F ATP13A3_uc003ftx.4_5'UTR NM_024524 NP_078800 Q9H7F0 AT133_HUMAN Homo sapiens ATPase type 13A3 (ATP13A3), mRNA. 1079 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) AAACTGGAAATAAAAAACACT 0.348000 33 33 0 0 0.000339439 0 0 DUOXA1 90527 broad.mit.edu 37 15 45413409 45413409 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:45413409G>A uc001zup.3 - 5 616 c.216C>T c.(214-216)ttC>ttT p.F72F DUOXA1_uc010uem.2_Intron|DUOXA1_uc010bec.3_Silent_p.F72F|DUOXA1_uc001zuq.1_Silent_p.F72F|DUOXA1_uc001zur.1_Intron|DUOXA1_uc010bed.1_Intron NM_144565 NP_653166 Q1HG43 DOXA1_HUMAN Homo sapiens dual oxidase maturation factor 1 (DUOXA1), mRNA. 72 protein transport endoplasmic reticulum membrane|integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686) ACTCAGAACTGAAATTCACAG 0.512000 23 12 0 0 0.000151284 0 0 C6 729 broad.mit.edu 37 5 41181509 41181509 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:41181509G>A uc003jmk.2 - 6 1089 c.879C>T c.(877-879)atC>atT p.I293I C6_uc003jml.1_Silent_p.I293I NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 293 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.I293I(2) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) AATTATGGTTGATATTTTCAC 0.358000 82 25 0 0 0.000878237 0 0 PDK3 5165 broad.mit.edu 37 X 24521592 24521592 + Missense_Mutation SNP A G G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chrX:24521592A>G uc004dbg.3 + 3 698 c.469A>G c.(469-471)Aac>Gac p.N157D PDK3_uc004dbh.3_Missense_Mutation_p.N157D NM_005391 NP_005382 Q15120 PDK3_HUMAN Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 157 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 GTTTTATACCAACCGCATCTC 0.383000 11 22 0 0 0.000295444 0 0 ILF3 3609 broad.mit.edu 37 19 10794134 10794134 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:10794134C>T uc002mpn.3 + 14 2084 c.1767C>T c.(1765-1767)ttC>ttT p.F589F ILF3_uc010xli.1_Silent_p.F187F|ILF3_uc002mpm.2_Silent_p.F593F|ILF3_uc002mpl.2_Silent_p.F589F|ILF3_uc002mpk.2_Silent_p.F589F|ILF3_uc002mpo.3_Silent_p.F593F|ILF3_uc002mpp.3_Silent_p.F414F|ILF3_uc002mpq.3_5'Flank NM_012218 NP_036350 Q12906 ILF3_HUMAN Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA. 589 DRBM 2. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) AAAAGCTTTTCCCTGACACCC 0.542000 16 19 0 0 0.00074312 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138764305 138764305 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:138764305C>T uc003vun.3 - 3 1770 c.1382G>A c.(1381-1383)aGg>aAg p.R461K ZC3HAV1_uc003vuo.3_5'Flank|ZC3HAV1_uc003vup.3_Missense_Mutation_p.R461K NM_020119 NP_064504 Q7Z2W4 ZCCHV_HUMAN Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA. 461 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 ATCCTGAATCCTAGGTGATGA 0.438000 81 32 0 0 0.000339439 0 0 SPTBN5 51332 broad.mit.edu 37 15 42160315 42160315 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:42160315G>A uc001zos.3 - 33 6387 c.6054C>T c.(6052-6054)ctC>ctT p.L2018L MIR4310_uc021sjo.1_5'Flank NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA. 2053 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) CTCTGAGGAAGAGCTGCTCCT 0.662000 8 3 0 0 6.4e-05 0 0 INHBA 3624 broad.mit.edu 37 7 41730107 41730107 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:41730107G>A uc003thq.3 - 1 657 c.422C>T c.(421-423)tCc>tTc p.S141F INHBA_uc003thr.3_Missense_Mutation_p.S141F NM_002192 NP_002183 P08476 INHBA_HUMAN Homo sapiens inhibin, beta A (INHBA), mRNA. 141 G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 GCCTTCCTTGGAAATCTCGAA 0.507000 TSP Lung(11;0.080) 28 15 0 0 0.000219431 0 0 DSP 1832 broad.mit.edu 37 6 7583534 7583534 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:7583534G>A uc003mxp.1 + 23 6318 c.6039G>A c.(6037-6039)cgG>cgA p.R2013R DSP_uc003mxq.1_Silent_p.R1414R|DSP_uc021yle.1_Silent_p.R1570R NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2013 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CATTCCTTCGGGGTGCAGGAT 0.448000 49 28 0 0 0.000720815 0 0 PRR23C 389152 broad.mit.edu 37 3 138763024 138763024 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:138763024C>T uc011bmt.1 - 0 711 c.439G>A c.(439-441)Gag>Aag p.E147K NM_001134657 NP_001128129 Q6ZRP0 PR23C_HUMAN Homo sapiens proline rich 23C (PRR23C), mRNA. 147 breast(2)|lung(7)|skin(2) 11 GCAGCGATCTCTGGGACAGAT 0.662000 7 4 0 0 0.000602214 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33403030 33403030 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:33403030C>T uc011dri.2 + 5 806 c.611C>T c.(610-612)tCc>tTc p.S204F SYNGAP1_uc003oeo.1_Missense_Mutation_p.S189F|SYNGAP1_uc010juy.3_Missense_Mutation_p.S189F|SYNGAP1_uc010juz.3_5'Flank NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA. 204 PH. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 GATGAAGATTCCATTATCAAG 0.547000 40 49 0 0 0.000781405 0 0 GORASP2 26003 broad.mit.edu 37 2 171819372 171819372 + Missense_Mutation SNP C G G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:171819372C>G uc002ugk.3 + 8 1749 c.934C>G c.(934-936)Ctg>Gtg p.L312V GORASP2_uc002ugj.3_Missense_Mutation_p.L244V|GORASP2_uc010zdl.2_Missense_Mutation_p.L324V|GORASP2_uc010zdm.2_Missense_Mutation_p.L268V|GORASP2_uc002ugl.3_Missense_Mutation_p.L244V|GORASP2_uc002ugm.3_Missense_Mutation_p.L94V NM_015530 NP_056345 Q9H8Y8 GORS2_HUMAN Homo sapiens golgi reassembly stacking protein 2, 55kDa (GORASP2), transcript variant 1, mRNA. 312 Pro-rich. Golgi membrane breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 ACCAGCAGGACTGCCCAACCT 0.468000 27 8 0 0 0.000673444 0 0 EPO 2056 broad.mit.edu 37 7 100320459 100320459 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:100320459G>A uc003uwi.3 + 3 600 c.419G>A c.(418-420)gGa>gAa p.G140E EPO_uc011kkc.1_Missense_Mutation_p.G140E NM_000799 NP_000790 P01588 EPO_HUMAN Homo sapiens erythropoietin (EPO), mRNA. 140 G -> R (in Ref. 1; CAA26095). blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1) 12 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) CGGGCTCTGGGAGCCCAGGTG 0.577000 42 7 0 0 8.12818e-05 0 0 NPHS1 4868 broad.mit.edu 37 19 36334397 36334398 + Missense_Mutation DNP CC TT TT TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:36334397_36334398CC>TT uc002oby.3 - 16 2466_2467 c.2310_2311GG>AA c.(2308-2313)ccgggc>ccAAgc p.G771S NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 771 Ig-like C2-type 7. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TTGAACATGCCCGGGAGGATGG 0.574000 47 48 0 0 6.4e-05 0 0 EVI5 7813 broad.mit.edu 37 1 93201978 93201978 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:93201978C>T uc010otf.2 - 1 268 c.258G>A c.(256-258)ctG>ctA p.L86L EVI5_uc001dox.3_Silent_p.L86L NM_005665 NP_005656 O60447 EVI5_HUMAN Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA. 86 Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle Rab GTPase activator activity|protein binding breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1) 38 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) CCAGTTTAGCCAGGAGTTCTA 0.403000 37 6 0 0 3.59834e-05 0 0 ZFP64 55734 broad.mit.edu 37 20 50768918 50768918 + Missense_Mutation SNP T C C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:50768918T>C uc002xwl.3 - 5 2162 c.1813A>G c.(1813-1815)Acc>Gcc p.T605A ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Missense_Mutation_p.T603A|ZFP64_uc002xwn.3_Missense_Mutation_p.T551A NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA. 605 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 CCCGAACTGGTAATGAAAGTT 0.562000 91 14 0 0 0.000308642 0 0 ZNF434 54925 broad.mit.edu 37 16 3432960 3432960 + Missense_Mutation SNP C G G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr16:3432960C>G uc002cux.4 - 6 2242 c.1983G>C c.(1981-1983)agG>agC p.R661S ZNF434_uc010uwx.2_Missense_Mutation_p.R373S|ZNF434_uc002cuy.4_Missense_Mutation_p.R373S|ZNF434_uc002cuz.3_Missense_Mutation_p.R450S NM_017810 NP_060280 Q9NX65 ZN434_HUMAN Homo sapiens zinc finger protein 434 (ZNF434), mRNA. 450 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 AGTGAGAACACCTGTAAGGCT 0.493000 49 16 0 0 0.000308642 0 0 ESPNP 284729 broad.mit.edu 37 1 17030538 17030538 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:17030538C>T uc001azn.1 - 4 798 c.684G>A c.(682-684)caG>caA p.Q228Q Homo sapiens espin pseudogene (ESPNP), non-coding RNA. AGTTCAGAGGCTGGACCGACA 0.632000 71 6 0 0 3.59834e-05 0 0 KIF12 113220 broad.mit.edu 37 9 116857517 116857517 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:116857517C>T uc004bif.3 - 6 815 c.577G>A c.(577-579)Gga>Aga p.G193R KIF12_uc004big.3_Non-coding_Transcript NM_138424 NP_612433 Q96FN5 KIF12_HUMAN Homo sapiens kinesin family member 12 (KIF12), mRNA. 326 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 CCGCGCCCTCCCAGTGAGTCT 0.642000 13 31 0 0 0.00111076 0 0 MYO3B 140469 broad.mit.edu 37 2 171256757 171256757 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:171256757C>T uc002ufy.3 + 16 1994 c.1851C>T c.(1849-1851)ttC>ttT p.F617F MYO3B_uc002ufv.3_Silent_p.F604F|MYO3B_uc010fqb.1_Silent_p.F617F|MYO3B_uc002ufz.3_Silent_p.F617F|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA. 617 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex ATP binding|actin binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 ACATTGAGTTCGCAGCTATTT 0.403000 72 63 0 0 0.000781405 0 0 UFM1 51569 broad.mit.edu 37 13 38924147 38924147 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr13:38924147C>T uc001uwu.3 + 1 129 c.14C>T c.(13-15)tCc>tTc p.S5F UFM1_uc010abz.2_Missense_Mutation_p.S5F|UFM1_uc010aca.2_Missense_Mutation_p.S5F NM_016617 NP_057701 P61960 UFM1_HUMAN Homo sapiens ubiquitin-fold modifier 1 (UFM1), mRNA. 5 protein ufmylation cytoplasm|nucleus protein binding lung(2)|ovary(1) 3 Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132) TCGAAGGTTTCCTTTAAGATC 0.582000 26 31 0 0 0.000409698 0 0 APCS 325 broad.mit.edu 37 1 159557901 159557901 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:159557901G>A uc001ftv.3 + 1 171 c.75G>A c.(73-75)ggG>ggA p.G25G NM_001639 NP_001630 P02743 SAMP_HUMAN Homo sapiens amyloid P component, serum (APCS), mRNA. 25 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding p.G25W(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) ACCTCAGTGGGAAGGTGTTTG 0.393000 21 43 0 0 0.000374591 0 0 METTL22 79091 broad.mit.edu 37 16 8729067 8729067 + Nonsense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr16:8729067C>T uc002cyz.3 + 4 874 c.598C>T c.(598-600)Cga>Tga p.R200* METTL22_uc021tcq.1_Non-coding_Transcript NM_024109 NP_077014 Q9BUU2 MET22_HUMAN Homo sapiens methyltransferase like 22 (METTL22), mRNA. 200 methyltransferase activity large_intestine(5)|lung(4) 9 CATCCTGTTCCGACAGGACCT 0.637000 29 27 0 0 0.000720815 0 0 PI4KA 5297 broad.mit.edu 37 22 21088363 21088363 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr22:21088363G>A uc002zsz.4 - 33 4107 c.3846C>T c.(3844-3846)aaC>aaT p.N1282N PI4KA_uc002zsy.4_Silent_p.N92N NM_058004 NP_477352 P42356 PI4KA_HUMAN Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA. 1282 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CCACGTGCCGGTTCATGCTCC 0.632000 12 11 0 0 0.00010058 0 0 RHOV 171177 broad.mit.edu 37 15 41165488 41165488 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:41165488C>T uc001znd.3 - 2 629 c.479G>A c.(478-480)gGg>gAg p.G160E NM_133639 NP_598378 Q96L33 RHOV_HUMAN Homo sapiens ras homolog gene family, member V (RHOV), mRNA. 160 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome membrane|plasma membrane GTP binding|metal ion binding central_nervous_system(1)|large_intestine(1) 2 all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163) CTCCCGGCCCCCCTGGTCCAG 0.662000 66 18 0 0 0.000132079 0 0 SLC24A4 123041 broad.mit.edu 37 14 92911661 92911661 + Splice_Site SNP T C C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr14:92911661T>C uc001yak.3 + 8 681 c.658_splice c.e8-1 p.F220_splice SLC24A4_uc001yai.3_Splice_Site_p.F156_splice|SLC24A4_uc010twm.2_Splice_Site_p.F220_splice|SLC24A4_uc010auj.3_Splice_Site_p.F111_splice|SLC24A4_uc010twn.2_Splice_Site NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA. 220 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) TGCCTTACAGTTCATATATGA 0.388000 96 35 0 0 0.000319135 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562580 140562580 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:140562580G>A uc003liv.3 + 0 1601 c.446G>A c.(445-447)gGa>gAa p.G149E NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN Homo sapiens protocadherin beta 16 (PCDHB16), mRNA. 149 Cadherin 2. 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) AGTCCTCTAGGAACTGAGTTC 0.393000 19 31 0 0 0.000339439 0 0 MYO18B 84700 broad.mit.edu 37 22 26222395 26222395 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr22:26222395G>A uc003abz.1 + 13 2965 c.2715G>A c.(2713-2715)gtG>gtA p.V905V MYO18B_uc003aca.1_Silent_p.V786V|MYO18B_uc010guy.1_Silent_p.V786V|MYO18B_uc010guz.1_Silent_p.V786V|MYO18B_uc011aka.1_Silent_p.V59V|MYO18B_uc011akb.1_Silent_p.V418V NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 905 Myosin head-like. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TGACAGGAGTGGACTGTGTGG 0.562000 153 42 0 0 0.000781405 0 0 PELI2 57161 broad.mit.edu 37 14 56755313 56755313 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr14:56755313C>T uc001xch.3 + 3 754 c.468C>T c.(466-468)ttC>ttT p.F156F NM_021255 NP_067078 Q9HAT8 PELI2_HUMAN Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA. 156 MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 CACGGATATTCGCCGCCGGAT 0.458000 21 5 0 0 0.000602214 0 0 MED23 9439 broad.mit.edu 37 6 131912565 131912565 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:131912565C>T uc003qcs.1 - 25 3748 c.3574G>A c.(3574-3576)Gat>Aat p.D1192N MED23_uc003qcq.3_Missense_Mutation_p.D1198N|MED23_uc003qcr.1_Missense_Mutation_p.D47N NM_004830 NP_004821 Q9ULK4 MED23_HUMAN Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA. 1192 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity p.D1192Y(2)|p.D1198Y(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) GCAGTGAAATCAAAGAGGCGG 0.473000 39 10 0 0 0.000673444 0 0 SYNE1 23345 broad.mit.edu 37 6 152719759 152719759 + Missense_Mutation SNP G C C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:152719759G>C uc021zhb.1 - 46 7568 c.7345C>G c.(7345-7347)Ctt>Gtt p.L2449V SYNE1_uc003qot.4_Missense_Mutation_p.L2456V|SYNE1_uc003qou.4_Missense_Mutation_p.L2449V|SYNE1_uc010kjb.1_Missense_Mutation_p.L2432V NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 2449 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TATACCTGAAGATCATGGAGC 0.448000 HNSCC(10;0.0054) 45 11 0 0 0.000673444 0 0 TNN 63923 broad.mit.edu 37 1 175066699 175066699 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:175066699G>A uc001gkl.1 + 7 1848 c.1735G>A c.(1735-1737)Ggg>Agg p.G579R TNN_uc010pmx.1_Intron NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 579 Fibronectin type-III 4. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GGTTCTGGTGGGGAAGGAGCA 0.607000 34 11 0 0 0.000151284 0 0 AV4S1 0 broad.mit.edu 37 14 22671215 22671215 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr14:22671215C>T uc021rpv.1 + 1 270 c.235C>T c.(235-237)Cgt>Tgt p.R79C TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc010ajm.2_Non-coding_Transcript Homo sapiens mRNA for T cell receptor alpha variable 26, partial cds, clone: SEB 320. GATCCTGCACCGTGCTACCTT 0.502000 13 5 0 0 0.000602214 0 0 JMJD1C 221037 broad.mit.edu 37 10 65024429 65024429 + Silent SNP A G G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:65024429A>G uc001jmn.3 - 2 729 c.429T>C c.(427-429)agT>agC p.S143S JMJD1C_uc001jml.3_Intron|JMJD1C_uc001jmm.3_5'UTR|JMJD1C_uc010qiq.2_5'UTR|JMJD1C_uc009xpi.3_5'UTR|JMJD1C_uc009xpj.2_Intron|JMJD1C_uc001jmp.1_5'UTR NM_032776 NP_116165 Q15652 JHD2C_HUMAN Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA. 143 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) GCTGAAAGGCACTATCTTCAG 0.313000 49 17 0 0 0.000566183 0 0 LRRC56 115399 broad.mit.edu 37 11 541582 541582 + Nonsense_Mutation SNP G T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:541582G>T uc010qvz.2 + 4 728 c.223G>T c.(223-225)Gag>Tag p.E75* NM_198075 NP_932341 Q8IYG6 LRC56_HUMAN Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA. 75 kidney(1)|lung(4)|skin(1) 6 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GAGGACGCTGGAGATGTGTGT 0.642000 31 19 3.10358e-05 0.00031635 0.000295444 1 0 TOMM40L 84134 broad.mit.edu 37 1 161198560 161198560 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:161198560C>T uc001fzd.3 + 8 969 c.740C>T c.(739-741)tCc>tTc p.S247F TOMM40L_uc010pkl.1_Missense_Mutation_p.S213F|TOMM40L_uc009wue.3_Missense_Mutation_p.S129F|TOMM40L_uc009wuf.2_Non-coding_Transcript|TOMM40L_uc001fze.3_Missense_Mutation_p.S247F NM_032174 NP_115550 Q969M1 TM40L_HUMAN Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast)-like (TOMM40L), nuclear gene encoding mitochondrial protein, mRNA. 247 protein transport mitochondrial outer membrane|pore complex porin activity|voltage-gated anion channel activity large_intestine(2)|liver(4)|lung(4) 10 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) ACAACATTCTCCTTTGGTTAC 0.493000 36 9 0 0 0.000978159 0 0 MTTP 4547 broad.mit.edu 37 4 100521847 100521847 + Missense_Mutation SNP G C C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr4:100521847G>C uc011cej.2 + 8 1287 c.1274G>C c.(1273-1275)gGa>gCa p.G425A MTTP_uc003hvc.4_Missense_Mutation_p.G398A NM_000253 NP_000244 P55157 MTP_HUMAN Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA. 398 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) TATGCCTGTGGATTTGCTTCT 0.393000 10 17 0 0 0.000132079 0 0 AQP3 360 broad.mit.edu 37 9 33442339 33442339 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:33442339G>A uc003zsx.3 - 4 773 c.670C>T c.(670-672)Ctt>Ttt p.L224F AQP3_uc010mju.3_Intron|AQP3_uc003zsv.2_3'UTR NM_004925 NP_004916 Q92482 AQP3_HUMAN Homo sapiens aquaporin 3 (Gill blood group) (AQP3), mRNA. 224 excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D basolateral plasma membrane|cell-cell junction|cytoplasm glycerol channel activity|water channel activity endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.0899) GCTGTAAAAAGGCGGGGGCCA 0.662000 9 15 0 0 0.00074312 0 0 GIMAP8 155038 broad.mit.edu 37 7 150164156 150164156 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:150164156G>A uc003whj.3 + 1 700 c.370G>A c.(370-372)Gaa>Aaa p.E124K NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 124 Golgi apparatus|endoplasmic reticulum|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) GTTTGGAGCTGAAGCCAGGAG 0.478000 30 23 0 0 0.000295444 0 0 ARMC4 55130 broad.mit.edu 37 10 28101489 28101489 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr10:28101489G>A uc009xky.3 - 19 3185 c.3087C>T c.(3085-3087)tcC>tcT p.S1029S ARMC4_uc010qds.2_Missense_Mutation_p.P595L|ARMC4_uc010qdt.2_Silent_p.S721S|ARMC4_uc001itz.3_Silent_p.S1029S NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 1029 binding p.I1028M(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TGCGGATATTGGATATACAAC 0.458000 88 16 0 0 0.000566183 0 0 CASS4 57091 broad.mit.edu 37 20 55027732 55027732 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:55027732C>T uc002xxp.2 + 5 1725 c.1500C>T c.(1498-1500)gtC>gtT p.V500V CASS4_uc002xxq.4_Silent_p.V500V|CASS4_uc010zze.1_Silent_p.V446V|CASS4_uc002xxr.2_Silent_p.V500V|CASS4_uc010gio.2_Intron NM_001164116 NP_065089 Q9NQ75 CASS4_HUMAN Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA. 500 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CCCGAGGAGTCCATGGGACTG 0.478000 36 45 0 0 0.000680045 0 0 ABCB5 340273 broad.mit.edu 37 7 20683155 20683155 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:20683155C>T uc010kuh.3 + 6 815 c.578C>T c.(577-579)tCg>tTg p.S193L NM_001163941 NP_848654 Q2M3G0 ABCB5_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA. 379 regulation of membrane potential Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity p.S193L(1)|p.S193*(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TCTACTTTTTCGATTGGCCTG 0.423000 114 61 0 0 0.000781405 0 0 GPR155 151556 broad.mit.edu 37 2 175306874 175306874 + Missense_Mutation SNP T A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:175306874T>A uc002uit.3 - 14 2538 c.2147A>T c.(2146-2148)cAt>cTt p.H716L GPR155_uc002uiu.3_Missense_Mutation_p.H716L|GPR155_uc002uiv.3_Missense_Mutation_p.H716L|GPR155_uc010fqs.3_Missense_Mutation_p.H688L NM_001033045 NP_689742 Q7Z3F1 GP155_HUMAN Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA. 716 intracellular signal transduction|transmembrane transport integral to membrane breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 GATGATTAAATGTTTATCTAA 0.269000 54 10 0 0 0.000442599 0 0 ASCC2 84164 broad.mit.edu 37 22 30202248 30202248 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr22:30202248C>T uc003agr.3 - 11 1261 c.1117G>A c.(1117-1119)Gtg>Atg p.V373M ASCC2_uc011akr.2_Missense_Mutation_p.V297M|ASCC2_uc003ags.3_Non-coding_Transcript NM_032204 NP_115580 Q9H1I8 ASCC2_HUMAN Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA. 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) TCTTCGGCCACGGGGAAGAGT 0.582000 132 17 0 0 0.000175454 0 0 SERPINB2 5055 broad.mit.edu 37 18 61570538 61570538 + Nonstop_Mutation SNP A T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr18:61570538A>T uc010xeu.2 + 8 1580 c.1247A>T c.(1246-1248)tAa>tTa p.*416L SERPINB2_uc002ljo.3_Nonstop_Mutation_p.*416L|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron NM_001143818 NP_002566 P05120 PAI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA. 0 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis Golgi apparatus|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TCCTCACCCTAAAACTAAGCG 0.368000 4 9 0 0 0.000978159 0 0 SNUPN 10073 broad.mit.edu 37 15 75890955 75890955 + Missense_Mutation SNP C G G TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:75890955C>G uc002ban.3 - 8 917 c.827G>C c.(826-828)tGg>tCg p.W276S SNUPN_uc002bap.3_Missense_Mutation_p.W318S|SNUPN_uc002baq.3_Missense_Mutation_p.W276S|SNUPN_uc002bar.3_Missense_Mutation_p.W276S|SNUPN_uc002bas.3_Missense_Mutation_p.W276S NM_005701 NP_005692 O95149 SPN1_HUMAN Homo sapiens snurportin 1 (SNUPN), transcript variant 1, mRNA. 276 Necessary for binding to the m3G-cap structure. ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly cytosol|nuclear pore RNA cap binding|protein transporter activity endometrium(2)|large_intestine(3)|lung(2)|pancreas(1) 8 GGGGCGCAGCCAGCCCACCAA 0.557000 200 29 0 0 0.000227799 0 0 DCHS2 54798 broad.mit.edu 37 4 155158041 155158041 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr4:155158041G>A uc003inw.2 - 24 6398 c.6398C>T c.(6397-6399)tCc>tTc p.S2133F NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA. 2133 Cadherin 19. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ACTGATGATGGAATATTCAAC 0.383000 11 20 0 0 0.000958276 0 0 ADH1A 124 broad.mit.edu 37 4 100205660 100205660 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr4:100205660C>T uc003hur.2 - 4 577 c.463G>A c.(463-465)Gaa>Aaa p.E155K LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'UTR NM_000667 NP_000658 P07327 ADH1A_HUMAN Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA. 155 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) ACTGCATTTTCATCCACCACT 0.522000 7 17 0 0 0.000422831 0 0 KIF25 3834 broad.mit.edu 37 6 168445549 168445549 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:168445549G>A uc003qwk.1 + 8 1290 c.1028G>A c.(1027-1029)aGc>aAc p.S343N KIF25_uc003qwl.1_Missense_Mutation_p.S291N NM_030615 NP_085118 Q9UIL4 KIF25_HUMAN Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA. 343 microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) ATTTCTCCCAGCCAGAGGCAC 0.552000 82 18 0 0 0.000229342 0 0 DDX18 8886 broad.mit.edu 37 2 118575276 118575276 + Missense_Mutation SNP G C C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:118575276G>C uc002tlh.1 + 1 441 c.342G>C c.(340-342)aaG>aaC p.K114N NM_006773 NP_006764 Q9NVP1 DDX18_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA. 114 Poly-Lys. ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AGAAGAAAAAGAGAAAAATGG 0.348000 87 27 0 0 0.000878237 0 0 LINGO4 339398 broad.mit.edu 37 1 151773683 151773683 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:151773683C>T uc001ezf.1 - 1 1688 c.1498G>A c.(1498-1500)Gaa>Aaa p.E500K LINGO4_uc021oyu.1_Missense_Mutation_p.E500K NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA. 500 Ig-like C2-type. integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGGATGACTTCCAGCCAGGTC 0.572000 65 91 0 0 0.000781405 0 0 BTNL8 79908 broad.mit.edu 37 5 180335890 180335891 + Missense_Mutation DNP CC AA AA TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:180335890_180335891CC>AA uc003mmp.3 + 1 588_589 c.354_355CC>AA c.(352-357)tcccag>tcAAag p.Q119K BTNL8_uc003mmq.3_Missense_Mutation_p.Q119K|BTNL8_uc010jll.3_Missense_Mutation_p.Q119K|BTNL8_uc011dhg.2_Intron|BTNL8_uc010jlm.3_Intron|BTNL8_uc011dhh.2_5'Flank NM_001040462 NP_001153182 Q6UX41 BTNL8_HUMAN Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA. 119 Ig-like V-type 1. integral to membrane p.Q119K(6) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGATTAGTTCCCAGTCTTACTA 0.465000 394 12 0 0 6.4e-05 0 0 ZNF831 128611 broad.mit.edu 37 20 57768418 57768418 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:57768418G>A uc002yan.3 + 0 2344 c.2344G>A c.(2344-2346)Gac>Aac p.D782N NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 782 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AGTTTGGCCGGACCCCAAGCT 0.657000 23 7 0 0 0.000274275 0 0 TRA 0 broad.mit.edu 37 14 22180877 22180877 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr14:22180877C>T uc021roz.1 + 1 157 c.149C>T c.(148-150)tCt>tTt p.S50F Homo sapiens mRNA for T cell receptor alpha variable 2, partial cds, clone: SEB 280. TGTAATCACTCTGTGTCCAAT 0.468000 57 109 0 0 0.000781405 0 0 ABCC11 85320 broad.mit.edu 37 16 48227838 48227838 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr16:48227838C>T uc002eff.1 - 17 2810 c.2460G>A c.(2458-2460)acG>acA p.T820T ABCC11_uc002efg.1_Silent_p.T820T|ABCC11_uc002efh.1_Silent_p.T820T|ABCC11_uc010vgk.1_Non-coding_Transcript NM_033151 NP_149163 Q96J66 ABCCB_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA. 820 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) AGCTGAAGATCGTTAAGAAGA 0.527000 8 32 0 0 0.000953801 0 0 C6orf15 29113 broad.mit.edu 37 6 31079351 31079351 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:31079351C>T uc003nsk.1 - 1 785 c.785G>A c.(784-786)gGa>gAa p.G262E NM_014070 NP_054789 Q6UXA7 CF015_HUMAN Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA. 262 Gly-rich. endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 ATTAATATTTCCCCAGCTGCC 0.502000 102 7 0 0 0.000157383 0 0 ZNF213 7760 broad.mit.edu 37 16 3187371 3187371 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr16:3187371G>A uc010uws.2 + 1 537 c.90G>A c.(88-90)caG>caA p.Q30Q ZNF213_uc002cud.3_Non-coding_Transcript|ZNF213_uc010btf.3_Silent_p.Q30Q|ZNF213_uc010bth.3_Silent_p.Q30Q|ZNF213_uc010uwt.2_Silent_p.Q30Q NM_004220 NP_004211 O14771 ZN213_HUMAN Homo sapiens zinc finger protein 213 (ZNF213), transcript variant 1, mRNA. 30 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 16 CCTGGGAACAGGAATCTGCCC 0.617000 33 31 0 0 0.000227799 0 0 SDK2 54549 broad.mit.edu 37 17 71386490 71386490 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr17:71386490C>T uc010dfm.3 - 28 4128 c.4128G>A c.(4126-4128)acG>acA p.T1376T SDK2_uc002jjt.4_Silent_p.T535T|SDK2_uc010dfn.2_Silent_p.T1055T NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 1376 Fibronectin type-III 8. cell adhesion integral to membrane p.T1376M(1) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GGGTCTGGGCCGTGATGCGGA 0.682000 11 8 0 0 0.000157383 0 0 DNAAF3 352909 broad.mit.edu 37 19 55670814 55670814 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:55670814G>A uc002qjl.1 - 11 1445 c.1443C>T c.(1441-1443)taC>taT p.Y481Y TNNI3_uc002qjg.4_5'Flank|TNNI3_uc010yft.2_5'Flank|DNAAF3_uc002qjh.1_Silent_p.Y229Y|DNAAF3_uc002qji.1_Silent_p.Y414Y|DNAAF3_uc002qjj.1_Silent_p.Y461Y|DNAAF3_uc002qjk.1_Silent_p.Y360Y NM_178837 NP_849159 Q8N9W5 CS051_HUMAN Homo sapiens chromosome 19 open reading frame 51 (C19orf51), mRNA. 414 CGTCCACCAGGTACCTGCAGA 0.627000 53 13 0 0 0.000308642 0 0 LRP1B 53353 broad.mit.edu 37 2 141806610 141806610 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:141806610G>A uc002tvj.1 - 10 2706 c.1734C>T c.(1732-1734)ttC>ttT p.F578F LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 578 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GGCCAATTAGGAAACTGGTGG 0.428000 TSP Lung(27;0.18) 25 6 0 0 8.12818e-05 0 0 RPAP1 26015 broad.mit.edu 37 15 41826993 41826993 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:41826993G>A uc001zod.3 - 5 806 c.682C>T c.(682-684)Cat>Tat p.H228Y NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA. 228 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) TTCTCTTCATGGATAGTCTGG 0.582000 26 15 0 0 0.000308642 0 0 COL6A6 131873 broad.mit.edu 37 3 130282243 130282243 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:130282243C>T uc010htl.3 + 1 427 c.396C>T c.(394-396)ccC>ccT p.P132P NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 132 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 AACAGTTTCCCCCAATTCTAG 0.507000 21 16 0 0 0.000958276 0 0 ULK4 54986 broad.mit.edu 37 3 41957541 41957541 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:41957541G>A uc003ckv.4 - 7 932 c.731C>T c.(730-732)tCt>tTt p.S244F ULK4_uc003ckw.2_Missense_Mutation_p.S244F|ULK4_uc003ckx.1_Missense_Mutation_p.S244F NM_017886 NP_060356 Q96C45 ULK4_HUMAN Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA. 244 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) AGGACGAGAAGAATCTATAAA 0.274000 62 35 0 0 0.000814825 0 0 FCN2 2220 broad.mit.edu 37 9 137778365 137778365 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:137778365G>A uc004cfg.1 + 6 659 c.649G>A c.(649-651)Gag>Aag p.E217K FCN2_uc004cfh.1_Missense_Mutation_p.E179K NM_004108 NP_004099 Q15485 FCN2_HUMAN Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA. 217 Fibrinogen C-terminal. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) CGACGAGGCGGAGAAGTACAA 0.572000 13 39 0 0 0.00111076 0 0 TIMM9 26520 broad.mit.edu 37 14 58877641 58877642 + Missense_Mutation DNP CC AA AA TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr14:58877641_58877642CC>AA uc010aph.3 - 2 269_270 c.54_55GG>TT c.(52-57)ctgggg>ctTTgg p.G19W TIMM9_uc001xds.3_Missense_Mutation_p.G19W|TIMM9_uc010api.3_Missense_Mutation_p.G19W NM_012460 NP_036592 Q9Y5J7 TIM9_HUMAN Homo sapiens translocase of inner mitochondrial membrane 9 homolog (yeast) (TIMM9), nuclear gene encoding mitochondrial protein, mRNA. 19 protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex zinc ion binding p.G19W(2) kidney(2)|skin(1) 3 TTGTAGGTCCCCAGAAATTCCT 0.317000 191 7 0 0 6.4e-05 0 0 RANBP6 26953 broad.mit.edu 37 9 6013286 6013286 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:6013286G>A uc003zjr.3 - 0 2355 c.2322C>T c.(2320-2322)ctC>ctT p.L774L RANBP6_uc011lmf.2_Silent_p.L422L|RANBP6_uc003zjs.3_3'UTR NM_012416 NP_036548 O60518 RNBP6_HUMAN Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA. 774 protein transport cytoplasm|nucleus binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) TTATTTCTGAGAGCACATCTG 0.413000 65 16 0 0 0.000566183 0 0 SDK1 221935 broad.mit.edu 37 7 3990576 3990576 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr7:3990576C>T uc003smx.3 + 5 1008 c.869C>T c.(868-870)aCc>aTc p.T290I NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 290 cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) ACACCTGAAACCATGGCCCCA 0.552000 35 13 0 0 0.000422831 0 0 CCDC74A 90557 broad.mit.edu 37 2 132290454 132290454 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr2:132290454C>T uc002tta.3 + 5 946 c.894C>T c.(892-894)tcC>tcT p.S298S CCDC74A_uc002ttb.3_Silent_p.S232S|CCDC74A_uc021vpq.1_Missense_Mutation_p.P234L|CCDC74A_uc021vpr.1_Silent_p.S295S NM_138770 NP_620125 Q96AQ1 CC74A_HUMAN Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA. 298 endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 ACCTCAAGTCCCTCCTGGAAG 0.701000 16 17 0 0 0.000295444 0 0 RCL1 10171 broad.mit.edu 37 9 4826983 4826983 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:4826983C>T uc003zis.2 + 2 592 c.334C>T c.(334-336)Ccg>Tcg p.P112S NM_005772 NP_005763 Q9Y2P8 RCL1_HUMAN Homo sapiens RNA terminal phosphate cyclase-like 1 (RCL1), mRNA. 112 RNA processing|ribosome biogenesis nucleolus RNA-3'-phosphate cyclase activity p.P112Q(2) breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0244) TATGAAGCACCCGTTAAAAAT 0.453000 42 41 0 0 0.000228196 0 0 BAI3 577 broad.mit.edu 37 6 70065728 70065728 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:70065728G>A uc010kak.3 + 26 3847 c.3571G>A c.(3571-3573)Gat>Aat p.D1191N BAI3_uc003pev.4_Missense_Mutation_p.D1191N|BAI3_uc011dxx.2_Missense_Mutation_p.D397N NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 1191 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CTTTGAAAAGGATGTAGACAT 0.284000 47 48 0 0 0.000781405 0 0 OR5B3 441608 broad.mit.edu 37 11 58170611 58170611 + Missense_Mutation SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr11:58170611G>A uc010rkf.2 - 0 272 c.272C>T c.(271-273)tCt>tTt p.S91F NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA. 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S91C(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) TGCATTGTAAGAGATGACCTT 0.433000 41 20 0 0 0.000295444 0 0 TMC5 79838 broad.mit.edu 37 16 19455460 19455460 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr16:19455460C>T uc002dgc.4 + 3 1595 c.846C>T c.(844-846)ccC>ccT p.P282P TMC5_uc010vaq.2_Silent_p.P282P|TMC5_uc002dgb.4_Silent_p.P282P|TMC5_uc010var.2_Silent_p.P282P NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 282 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GTGATGACCCCGTGGGCAGTC 0.488000 45 43 0 0 0.000589545 0 0 FAIM3 9214 broad.mit.edu 37 1 207087397 207087397 + Missense_Mutation SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr1:207087397C>T uc001hey.3 - 1 259 c.80G>A c.(79-81)gGg>gAg p.G27E FAIM3_uc010prz.2_Intron|FAIM3_uc021pif.1_Missense_Mutation_p.G27E|FAIM3_uc010psa.2_5'UTR NM_005449 NP_005440 O60667 FAIM3_HUMAN Homo sapiens Fas apoptotic inhibitory molecule 3 (FAIM3), transcript variant 1, mRNA. 27 anti-apoptosis|cellular defense response integral to membrane breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(84;0.201) GCCCAGCTCCCCCTCTACCTT 0.547000 26 51 0 0 0.000781405 0 0 AHRR 57491 broad.mit.edu 37 5 434652 434652 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr5:434652G>A uc003jav.3 + 11 1906 c.1863G>A c.(1861-1863)agG>agA p.R621R AHRR_uc003jaw.3_Silent_p.R603R|AHRR_uc010isy.3_Silent_p.R449R|AHRR_uc010isz.3_Silent_p.R599R|AHRR_uc003jax.3_Silent_p.R362R|AHRR_uc003jay.3_Silent_p.R459R|AHRR_uc003jaz.3_Silent_p.R220R NM_020731 NP_065782 A9YTQ3 AHRR_HUMAN Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA. 603 Needed for transcriptional repression (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) CCCATGGGAGGGCCACTGCTG 0.672000 11 4 0 0 0.00024832 0 0 EYA2 2139 broad.mit.edu 37 20 45812033 45812033 + Silent SNP G A A TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr20:45812033G>A uc002xsm.3 + 14 1904 c.1530G>A c.(1528-1530)gcG>gcA p.A510A EYA2_uc010ghp.3_Silent_p.A431A|EYA2_uc002xsq.3_Silent_p.A480A NM_005244 NP_005235 O00167 EYA2_HUMAN Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA. 510 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) agcaaggagcgaaaaaggtac 0.537000 39 57 0 0 0.000781405 0 0 CDR1 1038 broad.mit.edu 37 X 139866304 139866304 + Silent SNP C T T TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chrX:139866304C>T uc004fbg.1 - 0 420 c.228G>A c.(226-228)agG>agA p.R76R AK054921_uc004fbf.1_Non-coding_Transcript NM_004065 NP_004056 P51861 CDR1_HUMAN Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA. 76 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) CCTTGTCTTCCCTCAAATCCA 0.463000 6 19 0 0 0.000132079 0 0 GLT8D1 55830 broad.mit.edu 37 3 52731861 52731877 + Frame_Shift_Del DEL CCACAGGAATCTCCTCT - - TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr3:52731861_52731877delCCACAGGAATCTCCTCT uc003dfi.4 - 3 420_436 c.189_205delAGAGGAGATTCCTGTGG c.(187-207)caagaggagattcctgtggtcfs p.Q63fs GLT8D1_uc003dfk.3_Frame_Shift_Del_p.Q63fs|GLT8D1_uc003dfl.3_Frame_Shift_Del_p.Q63fs|GLT8D1_uc003dfm.3_Frame_Shift_Del_p.Q63fs|GLT8D1_uc003dfn.3_Frame_Shift_Del_p.Q63fs NM_152932 NP_690909 Q68CQ7 GL8D1_HUMAN Homo sapiens glycosyltransferase 8 domain containing 1 (GLT8D1), transcript variant 1, mRNA. 63 integral to membrane|mitochondrion transferase activity, transferring glycosyl groups breast(1)|endometrium(1)|kidney(3)|large_intestine(3) 8 BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCAGCGATGACCACAGGAATCTCCTCTTGTCTCCCAT 0.470 --- 62 --- --- 14 --- C6orf223 221416 broad.mit.edu 37 6 43970504 43970509 + In_Frame_Del DEL GCGGCG - - rs72369323 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr6:43970504_43970509delGCGGCG uc003own.3 + 3 390_395 c.370_375delGCGGCG c.(370-375)gcggcgdel p.AA130del AK024736_uc003owm.1_Intron|C6orf223_uc003owo.3_3'UTR NM_153246 NP_694978 Q8N319 CF223_HUMAN Homo sapiens chromosome 6 open reading frame 223 (C6orf223), transcript variant 1, mRNA. 130 Ala-rich. central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1) 6 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) GGTAGAGCGCgcggcggcggcggcgg 0.772 --- 11 --- --- 5 --- NFIB 4781 broad.mit.edu 37 9 14146714 14146714 + Frame_Shift_Del DEL C - - rs144909299 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:14146714delC uc022bdo.1 - 5 1434 c.899delG c.(898-900)agtfs p.S300fs NFIB_uc003zld.3_Frame_Shift_Del_p.S48fs|NFIB_uc003zlf.3_Frame_Shift_Del_p.S300fs|NFIB_uc003zle.3_Frame_Shift_Del_p.S300fs|NFIB_uc022bdp.1_Frame_Shift_Del_p.S326fs|NFIB_uc011lmo.2_Frame_Shift_Del_p.S300fs NM_001190737 NP_001177666 O00712 NFIB_HUMAN Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA. 300 Clara cell differentiation|DNA replication|Type I pneumocyte differentiation|Type II pneumocyte differentiation|anterior commissure morphogenesis|chondrocyte differentiation|commissural neuron axon guidance|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 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) CCATGTTCGACTTCCAGCAGC 0.413 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" --- 32 --- --- 18 --- TRPM6 140803 broad.mit.edu 37 9 77455061 77455062 + Frame_Shift_Del DEL TG - - rs121912625 TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr9:77455061_77455062delTG uc004ajl.1 - 4 660_661 c.422_423delCA c.(421-423)tcafs p.S141fs TRPM6_uc004ajk.1_Frame_Shift_Del_p.S136fs|TRPM6_uc022bib.1_Frame_Shift_Del_p.S136fs|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Frame_Shift_Del_p.S141fs|TRPM6_uc010mpd.1_Frame_Shift_Del_p.S141fs|TRPM6_uc010mpe.1_Frame_Shift_Del_p.S141fs|TRPM6_uc004ajn.1_Frame_Shift_Del_p.S141fs NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 141 S -> L (in HOMG1; impairs heterodimer formation resulting in intracellular retention). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CCCCATGGACTGAGATCACAAG 0.391 --- 22 --- --- 11 --- PRPF40B 25766 broad.mit.edu 37 12 50025257 50025258 + Frame_Shift_Ins INS - C C TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr12:50025257_50025258insC uc001rur.1 + 1 155_156 c.92_93insC c.(91-93)atcfs p.I31fs PRPF40B_uc001rup.1_Frame_Shift_Ins_p.I53fs|PRPF40B_uc001ruq.1_Frame_Shift_Ins_p.I25fs|PRPF40B_uc001rus.1_5'Flank NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA. 31 Pro-rich. RNA splicing|mRNA processing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CCACCAGCTATCCCCCCCATGC 0.604 --- 72 --- --- 18 --- BLM 641 broad.mit.edu 37 15 91304286 91304288 + In_Frame_Del DEL TGA - - TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:91304286_91304288delTGA uc002bpr.3 + 6 1780_1782 c.1683_1685delTGA c.(1681-1686)tttgat>ttt p.D566del BLM_uc010uqh.2_In_Frame_Del_p.D566del|BLM_uc010uqi.2_In_Frame_Del_p.D191del|BLM_uc010bnx.3_In_Frame_Del_p.D566del NM_000057 NP_000048 P54132 BLM_HUMAN Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA. 566 Poly-Asp. G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray PML body|cytoplasm|lateral element|nuclear matrix|nucleolus ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) TAGATGACTTTGATGATGATGAT 0.374 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome --- 968 --- --- 7 --- LRRK1 79705 broad.mit.edu 37 15 101562697 101562697 + Frame_Shift_Del DEL C - - TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr15:101562697delC uc002bwr.3 + 14 2281 c.1962delC c.(1960-1962)ctcfs p.L654fs LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Intron NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA. 654 Roc. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity 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) AGTCCACCCTCCTGGAGATCT 0.622 --- 91 --- --- 15 --- HIPK4 147746 broad.mit.edu 37 19 40886647 40886649 + In_Frame_Del DEL CTC - - TCGA-D9-A148-06A-11D-A19A-08 TCGA-D9-A148-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660 b036b9bb-f047-427a-bd1f-7bdec7c15002 g.chr19:40886647_40886649delCTC uc002onp.3 - 2 1534_1536 c.1249_1251delGAG c.(1249-1251)gagdel p.E417del NM_144685 NP_653286 Q8NE63 HIPK4_HUMAN Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA. 417 cytoplasm ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) CTGGTGCCTTCTCCTCTCGGAAG 0.626 --- 57 --- --- 17 ---