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 ZCCHC17 51538 broad.mit.edu 37 1 31810124 31810125 + Splice_Site INS - - A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr1:31810124_31810125insA uc001bsp.1 + 4 361 c.225_splice c.e4+2 p.E75_splice ZCCHC17_uc001bsq.1_Splice_Site_p.E67_splice|ZCCHC17_uc010ogf.1_Splice_Site_p.E51_splice|ZCCHC17_uc009vtu.1_Splice_Site_p.E51_splice|ZCCHC17_uc001bsr.1_Splice_Site_p.E75_splice|ZCCHC17_uc009vtv.1_Splice_Site_p.E51_splice NM_016505 NP_057589 Q9NP64 NO40_HUMAN Homo sapiens zinc finger, CCHC domain containing 17 (ZCCHC17), mRNA. 75 S1 motif. nucleolus RNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1) 6 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222) STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168) GGCCGAGAGGTAAAGTTCTGTG 0.426 RPL5 6125 broad.mit.edu 37 1 93300358 93300358 + Missense_Mutation SNP G G A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr1:93300358G>A uc001doz.3 + 3 290 c.212G>A c.(211-213)gGg>gAg p.G71E FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_Missense_Mutation_p.G21E|RPL5_uc001dpd.3_5'Flank|SNORD21_uc001dpe.2_5'Flank NM_000969 NP_000960 P46777 RL5_HUMAN Homo sapiens ribosomal protein L5 (RPL5), mRNA. 71 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) CGTATAGAGGGGGATATGATA 0.413 BCAR3 8412 broad.mit.edu 37 1 94032953 94032953 + Missense_Mutation SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr1:94032953C>T uc001dpz.3 - 10 2457 c.2182G>A c.(2182-2184)Gac>Aac p.D728N BCAR3_uc001dqa.3_Missense_Mutation_p.D728N|BCAR3_uc001dqb.3_Missense_Mutation_p.D728N|BCAR3_uc001dpx.4_Missense_Mutation_p.D404N|BCAR3_uc001dpy.3_Missense_Mutation_p.D637N NM_003567 NP_003558 O75815 BCAR3_HUMAN Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA. 728 Ras-GEF. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 25 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) TCCCACATGTCGGTTCCTTCA 0.512 S1PR1 1901 broad.mit.edu 37 1 101705315 101705317 + In_Frame_Del DEL ATT ATT - TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr1:101705315_101705317delATT uc021oqt.1 + 0 775_777 c.775_777delATT c.(775-777)attdel p.I260del S1PR1_uc001dud.2_In_Frame_Del_p.I260del|S1PR1_uc009weg.2_In_Frame_Del_p.I260del NM_001400 NP_001391 P21453 S1PR1_HUMAN Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA. 260 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity p.I260I(1) NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 CAAGACCGTAATTATCGTCCTGA 0.591 CD58 965 broad.mit.edu 37 1 117078713 117078713 + Missense_Mutation SNP G G A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr1:117078713G>A uc001egm.3 - 2 623 c.502C>T c.(502-504)Cgt>Tgt p.R168C CD58_uc001egn.3_Non-coding_Transcript|CD58_uc010owy.2_Missense_Mutation_p.R168C|CD58_uc001ego.1_Intron|CD58_uc001egp.4_Missense_Mutation_p.R168C NM_001779 NP_001770 P19256 LFA3_HUMAN Homo sapiens CD58 molecule (CD58), transcript variant 1, mRNA. 168 Ig-like C2-type. blood coagulation|cell-cell adhesion|leukocyte migration anchored to membrane|integral to plasma membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Lung SC(450;0.225) all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577) Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121) GTTGAGTTACGTTTACATTGC 0.343 SPAG17 200162 broad.mit.edu 37 1 118623774 118623774 + Missense_Mutation SNP A A T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr1:118623774A>T uc001ehk.2 - 14 2227 c.2159T>A c.(2158-2160)cTg>cAg p.L720Q SPAG17_uc021oss.1_Missense_Mutation_p.L41Q NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 720 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTGCTCTAACAGCTGTCTATT 0.443 SPAG17 200162 broad.mit.edu 37 1 118628591 118628591 + Silent SNP A A C TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr1:118628591A>C uc001ehk.2 - 12 1784 c.1716T>G c.(1714-1716)acT>acG p.T572T NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 572 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTAGACGTTTAGTGTTGTTCC 0.388 SPTA1 6708 broad.mit.edu 37 1 158655079 158655079 + Missense_Mutation SNP C C T rs121918641 TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr1:158655079C>T uc001fst.1 - 1 282 c.83G>A c.(82-84)cGt>cAt p.R28H NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 28 R -> C (in EL2).|R -> H (in EL2; Corbeil; dbSNP:rs28934004).|R -> L (in EL2).|R -> S (in EL2; dbSNP:rs28934005). actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CACTTCCTGACGCCTCTCCTG 0.458 LEFTY2 7044 broad.mit.edu 37 1 226127121 226127121 + Missense_Mutation SNP G G A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr1:226127121G>A uc001hpt.2 - 2 920 c.677C>T c.(676-678)gCg>gTg p.A226V LEFTY2_uc010pvk.2_Missense_Mutation_p.A192V|LEFTY2_uc009xek.2_Intron NM_003240 NP_003231 O00292 LFTY2_HUMAN Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA. 226 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(184;0.197) CCCGGCTGGCGCCCCCTGCGA 0.701 RTKN2 219790 broad.mit.edu 37 10 63957757 63957757 + Silent SNP G G T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr10:63957757G>T uc001jlw.3 - 11 1837 c.1740C>A c.(1738-1740)acC>acA p.T580T RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.3_Silent_p.T234T NM_145307 NP_660350 Q8IZC4 RTKN2_HUMAN Homo sapiens rhotekin 2 (RTKN2), mRNA. 580 signal transduction intracellular endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) CTTCAAAATTGGTTTTAGTGT 0.448 CHUK 1147 broad.mit.edu 37 10 101981868 101981868 + Splice_Site SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr10:101981868C>T uc001kqp.3 - 4 440 c.385_splice c.e4+1 p.G129_splice NM_001278 NP_001269 O15111 IKKA_HUMAN Homo sapiens conserved helix-loop-helix ubiquitous kinase (CHUK), mRNA. 129 Protein kinase. I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 27 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) CTGATACGTACCTATATCACT 0.313 LGR4 55366 broad.mit.edu 37 11 27390538 27390538 + Missense_Mutation SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr11:27390538C>T uc001mrj.4 - 17 2217 c.1732G>A c.(1732-1734)Ggc>Agc p.G578S LGR4_uc001mrk.4_Missense_Mutation_p.G554S NM_018490 NP_060960 Q9BXB1 LGR4_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA. 578 integral to membrane|plasma membrane protein-hormone receptor activity NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1) 32 GAAATCAAGCCTATAAACAAT 0.378 HARBI1 283254 broad.mit.edu 37 11 46637480 46637480 + Missense_Mutation SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr11:46637480C>T uc001ncy.3 - 1 556 c.308G>A c.(307-309)tGt>tAt p.C103Y ATG13_uc009yld.3_5'Flank|ATG13_uc001nda.3_5'Flank|ATG13_uc001ndb.3_5'Flank|ATG13_uc001ncz.3_5'Flank|ATG13_uc001ndc.3_5'Flank|ATG13_uc010rgv.2_5'Flank NM_173811 NP_776172 Q96MB7 HARB1_HUMAN Homo sapiens harbinger transposase derived 1 (HARBI1), mRNA. 103 cytoplasm|nucleus metal ion binding|nuclease activity large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1) 3 ATTGGCAACACAACGACTCAT 0.488 VWF 7450 broad.mit.edu 37 12 6091103 6091103 + Missense_Mutation SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr12:6091103C>T uc001qnn.1 - 41 7386 c.7136G>A c.(7135-7137)cGt>cAt p.R2379H VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 2379 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GGTGGGCAAACGGTGCGGGGG 0.612 KRT3 3850 broad.mit.edu 37 12 53185580 53185580 + Silent SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr12:53185580C>T uc001say.3 - 5 1275 c.1209G>A c.(1207-1209)acG>acA p.T403T NM_057088 NP_476429 P12035 K2C3_HUMAN Homo sapiens keratin 3 (KRT3), mRNA. 403 Coil 2.|Rod. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 GCCTGCCAGCCGTGGTCTGCA 0.527 OR6C4 341418 broad.mit.edu 37 12 55945614 55945614 + Missense_Mutation SNP G G A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr12:55945614G>A uc010spp.2 + 0 604 c.604G>A c.(604-606)Gtt>Att p.V202I NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA. 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 CCTCTTGGCCGTTGTGACTCT 0.483 GLIPR1 11010 broad.mit.edu 37 12 75874782 75874782 + Missense_Mutation SNP A A G TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr12:75874782A>G uc001sxs.3 + 0 270 c.122A>G c.(121-123)cAt>cGt p.H41R GLIPR1_uc009zsb.1_Missense_Mutation_p.H41R NM_006851 NP_006842 P48060 GLIP1_HUMAN Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA. 41 cellular lipid metabolic process extracellular region|integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 14 GTTCGAATCCATAACAAGTTC 0.378 MGAT4C 25834 broad.mit.edu 37 12 86373908 86373908 + Missense_Mutation SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr12:86373908C>T uc010sum.2 - 5 827 c.668G>A c.(667-669)cGt>cAt p.R223H MGAT4C_uc001tal.4_Missense_Mutation_p.R199H|MGAT4C_uc001taj.4_Missense_Mutation_p.R199H|MGAT4C_uc001tak.4_Missense_Mutation_p.R199H|MGAT4C_uc001tai.4_Missense_Mutation_p.R199H|MGAT4C_uc001tah.4_Missense_Mutation_p.R199H NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA. 199 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TTGCTTGGAACGAAATTTGAC 0.338 UHRF1BP1L 23074 broad.mit.edu 37 12 100453163 100453163 + Missense_Mutation SNP T T C TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr12:100453163T>C uc001tgq.3 - 13 2121 c.1892A>G c.(1891-1893)aAa>aGa p.K631R UHRF1BP1L_uc001tgp.3_Missense_Mutation_p.K281R NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA. 631 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 ATCACAATCTTTAAAGTCTTG 0.353 SBNO1 55206 broad.mit.edu 37 12 123794339 123794339 + Silent SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr12:123794339C>T uc010tap.2 - 24 3360 c.3360G>A c.(3358-3360)gcG>gcA p.A1120A SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Silent_p.A1119A|SBNO1_uc010taq.2_Silent_p.A71A|SBNO1_uc001ues.1_Silent_p.A71A NM_001167856 NP_001161328 A3KN83 SBNO1_HUMAN Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA. 1120 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ACTGAAATAACGCATTCTGCT 0.328 SFSWAP 6433 broad.mit.edu 37 12 132281734 132281736 + In_Frame_Del DEL AGA AGA - TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr12:132281734_132281736delAGA uc001uja.1 + 15 2686_2688 c.2546_2548delAGA c.(2545-2550)gagaag>gag p.K853del SFSWAP_uc010tbn.1_In_Frame_Del_p.K905del NM_004592 NP_004583 Q12872 SFSWA_HUMAN Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA. 853 Arg/Ser-rich (RS domain).|Poly-Lys. mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AGTCCCCACGAGAAGAAGAAGAA 0.606 CDADC1 81602 broad.mit.edu 37 13 49865831 49865831 + Silent SNP A A C TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr13:49865831A>C uc001vcu.3 + 9 1610 c.1483A>C c.(1483-1485)Aga>Cga p.R495R CDADC1_uc021rjm.1_Intron|CDADC1_uc010tgk.2_Silent_p.R297R|CDADC1_uc001vcv.3_Non-coding_Transcript NM_030911 NP_112173 Q9BWV3 CDAC1_HUMAN Homo sapiens cytidine and dCMP deaminase domain containing 1 (CDADC1), transcript variant 1, mRNA. 495 hydrolase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 16 Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216) TGGTGTGTTGAGACCTGTCCC 0.488 METTL21C 196541 broad.mit.edu 37 13 103343256 103343256 + Silent SNP G G A rs140891650 TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr13:103343256G>A uc001vpj.3 - 1 195 c.189C>T c.(187-189)taC>taT p.Y63Y NM_001010977 NP_001010977 Q5VZV1 MT21C_HUMAN Homo sapiens methyltransferase like 21C (METTL21C), mRNA. 63 methyltransferase activity breast(1)|large_intestine(3)|lung(2)|skin(1) 7 TGTAGCTGGCGTAATCTGTAG 0.443 OR4N2 390429 broad.mit.edu 37 14 20295720 20295720 + Missense_Mutation SNP T T C TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr14:20295720T>C uc010tkv.2 + 0 113 c.113T>C c.(112-114)aTc>aCc p.I38T NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA. 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TACTTCATCATCCTCCCTGGA 0.438 RNASE11 122651 broad.mit.edu 37 14 21052495 21052495 + Missense_Mutation SNP G G T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr14:21052495G>T uc010ahw.3 - 2 475 c.139C>A c.(139-141)Cag>Aag p.Q47K RNASE11_uc010ahv.3_Missense_Mutation_p.Q47K|RNASE11_uc010ahx.3_Missense_Mutation_p.Q47K|RNASE11_uc001vxs.3_Missense_Mutation_p.Q47K|RNASE11_uc021rnu.1_Missense_Mutation_p.Q47K NM_145250 NP_660293 Q8TAA1 RNS11_HUMAN Homo sapiens ribonuclease, RNase A family, 11 (non-active) (RNASE11), mRNA. 47 extracellular region nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) TCAATGGTCTGTTTTTCTTGG 0.378 ARID4A 5926 broad.mit.edu 37 14 58831848 58831848 + Missense_Mutation SNP A A G TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr14:58831848A>G uc001xdp.3 + 19 3295 c.3041A>G c.(3040-3042)gAt>gGt p.D1014G ARID4A_uc001xdo.3_Missense_Mutation_p.D1014G|ARID4A_uc001xdq.3_Missense_Mutation_p.D1014G|ARID4A_uc010apg.1_Missense_Mutation_p.D692G NM_002892 NP_002883 P29374 ARI4A_HUMAN Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA. 1014 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity p.Q1013K(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CTTAGTCAAGATGAGTCTCGA 0.413 AHNAK2 113146 broad.mit.edu 37 14 105408457 105408457 + Missense_Mutation SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr14:105408457C>T uc010axc.1 - 6 13451 c.13331G>A c.(13330-13332)cGg>cAg p.R4444Q AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.R4344Q NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 4444 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCCTCCAGCCGCGTACTGTC 0.587 PLCB2 5330 broad.mit.edu 37 15 40583002 40583002 + Missense_Mutation SNP G G C TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr15:40583002G>C uc001zld.3 - 27 3374 c.3073C>G c.(3073-3075)Cag>Gag p.Q1025E PLCB2_uc001zlc.3_Missense_Mutation_p.Q9E|PLCB2_uc010bbo.3_Missense_Mutation_p.Q1021E|PLCB2_uc010ucm.2_Missense_Mutation_p.Q1010E NM_004573 NP_004564 Q00722 PLCB2_HUMAN Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA. 1025 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.E1024D(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) TCTGCCGCCTGTTTCTCTCTG 0.587 VPS39 23339 broad.mit.edu 37 15 42457929 42457929 + Missense_Mutation SNP G G A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr15:42457929G>A uc001zpd.3 - 17 1950 c.1799C>T c.(1798-1800)gCt>gTt p.A600V VPS39_uc001zpc.3_Missense_Mutation_p.A589V|VPS39_uc001zpb.3_5'UTR NM_015289 NP_056104 Q96JC1 VPS39_HUMAN Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA. 600 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) ATAAGGAATAGCCAGACCCTT 0.443 SLC27A2 11001 broad.mit.edu 37 15 50518260 50518260 + Missense_Mutation SNP G G A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr15:50518260G>A uc001zxw.3 + 5 1475 c.1243G>A c.(1243-1245)Gtc>Atc p.V415I SLC27A2_uc010bes.3_Missense_Mutation_p.V362I|SLC27A2_uc001zxx.3_Missense_Mutation_p.V180I NM_003645 NP_003636 O14975 S27A2_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA. 415 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity p.V415L(2) NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) TGGATATTGCGTCAGAGTTCC 0.353 ACAN 176 broad.mit.edu 37 15 89395102 89395102 + Missense_Mutation SNP G G A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr15:89395102G>A uc010upo.1 + 10 2478 c.2104G>A c.(2104-2106)Gtg>Atg p.V702M ACAN_uc010upp.1_Missense_Mutation_p.V702M|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 702 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGAGTGGATCGTGACCCAAGT 0.567 GRIN2A 2903 broad.mit.edu 37 16 9858195 9858195 + Missense_Mutation SNP G G A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr16:9858195G>A uc010uym.2 - 13 3516 c.3206C>T c.(3205-3207)aCg>aTg p.T1069M GRIN2A_uc002czo.4_Missense_Mutation_p.T1069M|GRIN2A_uc010uyn.2_Missense_Mutation_p.T912M|GRIN2A_uc002czr.4_Missense_Mutation_p.T1069M NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 1069 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.T1069M(2) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCTGTGGCACGTGGCCCGATT 0.502 IL4R 3566 broad.mit.edu 37 16 27373745 27373745 + Missense_Mutation SNP G G A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr16:27373745G>A uc002don.3 + 10 1314 c.1072G>A c.(1072-1074)Gtg>Atg p.V358M IL4R_uc002dop.4_Missense_Mutation_p.V343M|IL4R_uc010bxy.3_Missense_Mutation_p.V358M|IL4R_uc002doo.3_Missense_Mutation_p.V198M NM_000418 NP_000409 P24394 IL4RA_HUMAN Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA. 358 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 GAGCATCAGCGTGGTGCGATG 0.562 CDH8 1006 broad.mit.edu 37 16 61687974 61687974 + Silent SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr16:61687974C>T uc002eog.2 - 11 2893 c.1938G>A c.(1936-1938)cgG>cgA p.R646R NM_001796 NP_001787 P55286 CADH8_HUMAN Homo sapiens cadherin 8, type 2 (CDH8), mRNA. 646 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R646Q(1)|p.R646L(1) biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CATTTTTATGCCGCCGTAGAG 0.388 C16orf7 9605 broad.mit.edu 37 16 89782935 89782935 + Silent SNP G G C TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr16:89782935G>C uc002fom.1 - 3 491 c.366C>G c.(364-366)ctC>ctG p.L122L C16orf7_uc002fol.1_Silent_p.L52L|LOC100128881_uc002fon.1_Non-coding_Transcript|LOC100128881_uc002foo.1_5'Flank NM_004913 NP_004904 Q9Y2B5 CP007_HUMAN Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA. 122 ATP synthesis coupled proton transport GTPase activator activity|transporter activity breast(1)|lung(3)|ovary(1) 5 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0273) GAAAAGGAGAGAGCTTTCCTC 0.567 PRPF8 10594 broad.mit.edu 37 17 1577046 1577046 + Missense_Mutation SNP A A G TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr17:1577046A>G uc002fte.3 - 21 3554 c.3440T>C c.(3439-3441)gTt>gCt p.V1147A NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA. 1147 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TCACAAGTTAACATCATGTTT 0.537 SPDYE4 388333 broad.mit.edu 37 17 8658859 8658859 + Missense_Mutation SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr17:8658859C>T uc010cnz.1 - 3 641 c.464G>A c.(463-465)cGc>cAc p.R155H NM_001128076 NP_001121548 A6NLX3 SPDE4_HUMAN Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA. 155 breast(1)|endometrium(2)|kidney(1) 4 GAAATGAATGCGTTGGTATTG 0.493 MYH4 4622 broad.mit.edu 37 17 10369590 10369590 + Silent SNP G G A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr17:10369590G>A uc002gmn.3 - 4 459 c.348_splice c.e4+1 p.Y116_splice AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 116 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GGGTGCTCACGTAGATCATCC 0.433 ASIC2 40 broad.mit.edu 37 17 31351022 31351022 + Silent SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr17:31351022C>T uc002hht.3 - 5 2079 c.1206G>A c.(1204-1206)gcG>gcA p.A402A ASIC2_uc002hhu.3_Silent_p.A351A NM_183377 NP_899233 Q16515 ACCN1_HUMAN Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA. 351 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding p.A402A(2)|p.A351A(2) Amiloride(DB00594) TGTCCTTTTCCGCCAACAGAC 0.532 C17orf53 78995 broad.mit.edu 37 17 42225478 42225478 + Missense_Mutation SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr17:42225478C>T uc002ifi.2 + 2 544 c.307C>T c.(307-309)Cct>Tct p.P103S C17orf53_uc010czq.2_Missense_Mutation_p.P103S|C17orf53_uc002ifj.2_Missense_Mutation_p.P103S|C17orf53_uc002ifk.1_Non-coding_Transcript NM_024032 NP_076937 Q8N3J3 CQ053_HUMAN Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA. 103 NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) TCCCCTAAGGCCTGTCTCTAC 0.577 CTDP1 9150 broad.mit.edu 37 18 77513692 77513692 + Missense_Mutation SNP G G A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr18:77513692G>A uc002lnh.2 + 12 2935 c.2788G>A c.(2788-2790)Gag>Aag p.E930K CTDP1_uc002lni.2_3'UTR|CTDP1_uc010drd.2_3'UTR|CTDP1_uc021ult.1_Missense_Mutation_p.E811K NM_004715 NP_001189433 Q9Y5B0 CTDP1_HUMAN Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA. 930 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) CGCCGCCAGCGAGTCCAGCAG 0.617 MATK 4145 broad.mit.edu 37 19 3783948 3783948 + Missense_Mutation SNP G G T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr19:3783948G>T uc002lyt.3 - 5 846 c.446C>A c.(445-447)tCc>tAc p.S149Y MATK_uc002lyv.3_Missense_Mutation_p.S150Y|MATK_uc002lyu.3_Missense_Mutation_p.S108Y|MATK_uc010dtq.3_Missense_Mutation_p.S149Y NM_139355 NP_647611 P42679 MATK_HUMAN Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA. 149 SH2. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GTGGCGCGCGGACTCCCGCAC 0.682 NCAN 1463 broad.mit.edu 37 19 19351446 19351446 + Silent SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr19:19351446C>T uc002nlz.3 + 11 3543 c.3444C>T c.(3442-3444)aaC>aaT p.N1148N NCAN_uc002nma.3_5'UTR NM_004386 NP_004377 O14594 NCAN_HUMAN Homo sapiens neurocan (NCAN), mRNA. 1148 C-type lectin. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) TCGGCCTGAACGACAGGATCG 0.637 NR1H2 7376 broad.mit.edu 37 19 50882422 50882423 + Frame_Shift_Ins INS - - G TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr19:50882422_50882423insG uc010enw.3 + 6 1380_1381 c.911_912insG c.(910-912)aagfs p.K304fs NR1H2_uc002prv.4_Non-coding_Transcript|NR1H2_uc002psa.4_Frame_Shift_Ins_p.K207fs NM_007121 NP_009052 P55055 NR1H2_HUMAN Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA. 304 Ligand-binding (Potential). negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 8 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) GCCCTCCTGAAGGCATCCACTA 0.574 KIR2DL1 3802 broad.mit.edu 37 19 55284915 55284915 + Silent SNP C C T rs144426670 byFrequency TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr19:55284915C>T uc010erz.1 + 2 239 c.201C>T c.(199-201)aaC>aaT p.N67N KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Silent_p.N67N NM_014218 NP_055033 P43626 KI2L1_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA. 67 Ig-like C2-type 1. immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) GGATGTTTAACGACACTTTGC 0.517 ZSCAN1 284312 broad.mit.edu 37 19 58565272 58565272 + Silent SNP C C T rs144381428 TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr19:58565272C>T uc002qrc.1 + 5 1327 c.1080C>T c.(1078-1080)tcC>tcT p.S360S NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA. 360 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCCGGGAGTCCGTCCCACCCA 0.662 KIDINS220 57498 broad.mit.edu 37 2 8943255 8943255 + Silent SNP A A G TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr2:8943255A>G uc002qzc.2 - 7 788 c.606T>C c.(604-606)aaT>aaC p.N202N KIDINS220_uc010yiv.1_Silent_p.N11N|KIDINS220_uc002qzd.2_Silent_p.N160N|KIDINS220_uc010yiw.1_Silent_p.N203N NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA. 202 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) CAGTCATTGAATTCTAAAAAC 0.299 IL18RAP 8807 broad.mit.edu 37 2 103068411 103068411 + Missense_Mutation SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr2:103068411C>T uc002tbx.3 + 11 2054 c.1570C>T c.(1570-1572)Cct>Tct p.P524S IL18RAP_uc010fiz.3_Missense_Mutation_p.P382S NM_003853 NP_003844 O95256 I18RA_HUMAN Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA. 524 TIR. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity p.P524S(2) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 AGAGTCTCTACCTCATCTCGT 0.418 LIMS1 3987 broad.mit.edu 37 2 109292448 109292448 + Silent SNP C C T rs111779374 TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr2:109292448C>T uc002teg.3 + 5 738 c.609C>T c.(607-609)cgC>cgT p.R203R LIMS1_uc002tel.3_Silent_p.R215R|LIMS1_uc002teh.3_Silent_p.R203R|LIMS1_uc002tei.3_Silent_p.R207R|LIMS1_uc002tej.3_Silent_p.R240R|LIMS1_uc002tek.4_Silent_p.R265R NM_004987 NP_004978 P48059 LIMS1_HUMAN Homo sapiens LIM and senescent cell antigen-like domains 1 (LIMS1), transcript variant 2, mRNA. 203 LIM zinc-binding 4. cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent cytosol|focal adhesion|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 10 TCGAAGGGCGCGTGGTGAACG 0.537 DDX11L2 84771 broad.mit.edu 37 2 114357557 114357557 + Nonstop_Mutation SNP A A G rs115341812 by1000genomes TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr2:114357557A>G uc010yxx.1 - 2 709 c.382T>C c.(382-384)Tag>Cag p.*128Q Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA. GCCTACTTCTAGTGAAACTGG 0.567 DPP10 57628 broad.mit.edu 37 2 116447456 116447456 + Missense_Mutation SNP G G A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr2:116447456G>A uc002tle.3 + 6 568 c.547G>A c.(547-549)Gtc>Atc p.V183I DPP10_uc002tla.2_Missense_Mutation_p.V179I|DPP10_uc002tlb.2_Missense_Mutation_p.V129I|DPP10_uc002tlc.2_Missense_Mutation_p.V175I|DPP10_uc002tlf.2_Missense_Mutation_p.V172I NM_001178034 NP_001171505 Q8N608 DPP10_HUMAN Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA. 179 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 AGAGGACTCCGTCTTGCAGTA 0.438 CRYBB2 1415 broad.mit.edu 37 22 25627599 25627599 + Missense_Mutation SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr22:25627599C>T uc003abp.1 + 5 526 c.478C>T c.(478-480)Cgt>Tgt p.R160C NM_000496 NP_000487 P43320 CRBB2_HUMAN Homo sapiens crystallin, beta B2 (CRYBB2), mRNA. 160 Beta/gamma crystallin 'Greek key' 4. response to stimulus|visual perception structural constituent of eye lens endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 10 CCCCGGCTACCGTGGGCTGCA 0.637 CYP8B1 1582 broad.mit.edu 37 3 42916850 42916850 + Silent SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr3:42916850C>T uc003cmh.3 - 0 784 c.459G>A c.(457-459)acG>acA p.T153T CCBP2_uc003cmg.3_Intron NM_004391 NP_004382 Q9UNU6 CP8B1_HUMAN Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA. 153 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) AGCCTTTGGACGTCAGCATTA 0.512 MYLK 4638 broad.mit.edu 37 3 123376130 123376130 + Silent SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr3:123376130C>T uc003ego.3 - 23 4413 c.4131G>A c.(4129-4131)acG>acA p.T1377T MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Silent_p.T177T|MYLK_uc011bjw.2_Silent_p.T1377T|MYLK_uc003egp.3_Silent_p.T1308T|MYLK_uc003egq.3_Silent_p.T1377T|MYLK_uc003egr.3_Silent_p.T1308T|MYLK_uc003egs.3_Silent_p.T1201T NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 1377 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GTTCCTTCCACGTCTTGTTGG 0.542 RTP1 132112 broad.mit.edu 37 3 186917604 186917604 + Missense_Mutation SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr3:186917604C>T uc003frg.3 + 1 568 c.538C>T c.(538-540)Cgc>Tgc p.R180C NM_153708 NP_714919 P59025 RTP1_HUMAN Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA. 180 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2) 22 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) CGTGGCCAGCCGCCAGGACAA 0.682 HPSE 10855 broad.mit.edu 37 4 84223384 84223384 + Missense_Mutation SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr4:84223384C>T uc003hoj.4 - 9 1343 c.1244G>A c.(1243-1245)gGc>gAc p.G415D HPSE_uc003hoi.3_Missense_Mutation_p.G357D|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Missense_Mutation_p.G158D|HPSE_uc003hok.4_Missense_Mutation_p.G415D|HPSE_uc011cct.2_Missense_Mutation_p.G341D NM_001098540 NP_006656 Q9Y251 HPSE_HUMAN Homo sapiens heparanase (HPSE), transcript variant 2, mRNA. 415 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) CACCTTGGTGCCCACCAATTT 0.403 ZFP42 132625 broad.mit.edu 37 4 188924752 188924752 + Missense_Mutation SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr4:188924752C>T uc003izh.1 + 3 1199 c.791C>T c.(790-792)aCg>aTg p.T264M ZFP42_uc003izi.1_Missense_Mutation_p.T264M|ZFP42_uc021xvm.1_Missense_Mutation_p.T264M NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA. 264 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) AATTTGCGTACGCACGTGCGC 0.483 AHRR 57491 broad.mit.edu 37 5 422883 422883 + Missense_Mutation SNP G G A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr5:422883G>A uc003jav.3 + 5 536 c.493G>A c.(493-495)Gtg>Atg p.V165M AHRR_uc003jaw.3_Missense_Mutation_p.V165M|AHRR_uc010isy.3_Missense_Mutation_p.V11M|AHRR_uc010isz.3_Missense_Mutation_p.V161M|AHRR_uc003jax.3_5'UTR|AHRR_uc003jay.3_Missense_Mutation_p.V21M NM_020731 NP_065782 A9YTQ3 AHRR_HUMAN Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA. 165 PAS. 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) CTACATCCACGTGGACGACCG 0.547 MAP3K1 4214 broad.mit.edu 37 5 56160697 56160697 + Missense_Mutation SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr5:56160697C>T uc003jqw.4 + 3 1472 c.971C>T c.(970-972)cCt>cTt p.P324L NM_005921 NP_005912 Q13233 M3K1_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA. 324 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) CAGATAGGGCCTAACTCTTTC 0.468 PIK3R1 5295 broad.mit.edu 37 5 67576379 67576379 + Missense_Mutation SNP A A T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr5:67576379A>T uc003jva.3 + 5 1238 c.658A>T c.(658-660)Att>Ttt p.I220F NM_181523 NP_852664 P27986 P85A_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA. 220 Rho-GAP. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CGAAGAATATATTCAGCTATT 0.343 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) ZNF608 57507 broad.mit.edu 37 5 123984804 123984804 + Missense_Mutation SNP C C A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr5:123984804C>A uc003ktq.1 - 3 1456 c.1273G>T c.(1273-1275)Gac>Tac p.D425Y ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.D425Y|ZNF608_uc003ktt.1_Missense_Mutation_p.D425Y NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN Homo sapiens zinc finger protein 608 (ZNF608), mRNA. 425 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) ATCTCCAGGTCACTTGTCGGT 0.552 FBXO38 81545 broad.mit.edu 37 5 147781654 147781654 + Silent SNP G G A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr5:147781654G>A uc003lpf.1 + 3 492 c.372G>A c.(370-372)gaG>gaA p.E124E FBXO38_uc003lpg.1_Silent_p.E124E|FBXO38_uc003lph.2_Silent_p.E124E NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA. 124 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGGCCATGAGGCTTTTAGCA 0.448 NDUFAF4 29078 broad.mit.edu 37 6 97344693 97344693 + Missense_Mutation SNP C C T rs142963790 TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr6:97344693C>T uc003pow.3 - 1 257 c.167G>A c.(166-168)cGt>cAt p.R56H NDUFAF4_uc003pov.3_Non-coding_Transcript NM_014165 NP_054884 Q9P032 NDUF4_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4 (NDUFAF4), nuclear gene encoding mitochondrial protein, mRNA. 56 mitochondrial respiratory chain complex I assembly mitochondrial membrane calmodulin binding large_intestine(5)|lung(3)|ovary(1)|skin(1) 10 TTCATCTTTACGAGCAATCTC 0.333 GRM1 2911 broad.mit.edu 37 6 146755476 146755476 + Silent SNP C C A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr6:146755476C>A uc010khw.1 + 8 3599 c.3129C>A c.(3127-3129)acC>acA p.T1043T GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR NM_000838 NP_000829 Q13255 GRM1_HUMAN Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA. 1043 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) ACTTCAGTACCGCGATCCCGG 0.672 TIAM2 26230 broad.mit.edu 37 6 155566797 155566797 + Missense_Mutation SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr6:155566797C>T uc003qqb.3 + 20 4857 c.3584C>T c.(3583-3585)gCg>gTg p.A1195V TIAM2_uc003qqe.3_Missense_Mutation_p.A1195V|TIAM2_uc010kjj.3_Missense_Mutation_p.A728V|TIAM2_uc003qqf.3_Missense_Mutation_p.A571V|TIAM2_uc011efl.1_Missense_Mutation_p.A531V|TIAM2_uc003qqg.3_Missense_Mutation_p.A507V|TIAM2_uc003qqh.3_Missense_Mutation_p.A120V NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA. 1195 DH. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity p.A1195V(2)|p.Y1194Y(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CTTTATTACGCGGACCACTTT 0.403 ZPBP 11055 broad.mit.edu 37 7 50097645 50097645 + Missense_Mutation SNP C C T rs148913753 TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr7:50097645C>T uc003tou.3 - 3 497 c.427G>A c.(427-429)Gaa>Aaa p.E143K ZPBP_uc010kyw.3_Missense_Mutation_p.E142K NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA. 143 binding of sperm to zona pellucida extracellular region p.L142L(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) GGTTTATATTCGAGGAAACAT 0.328 EGFR 1956 broad.mit.edu 37 7 55221822 55221822 + Missense_Mutation SNP C C T rs149840192 TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr7:55221822C>T uc003tqk.3 + 6 1112 c.866C>T c.(865-867)gCc>gTc p.A289V EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 289 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGCTTTGGTGCCACCTGCGTG 0.592 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) TYW1B 441250 broad.mit.edu 37 7 72093896 72093896 + Silent SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr7:72093896C>T uc011kej.2 - 13 1749 c.1590G>A c.(1588-1590)ggG>ggA p.G530G TYW1B_uc011keh.1_Silent_p.G368G|TYW1B_uc011kei.2_Silent_p.G157G NM_001145440 NP_001138912 Q6NUM6 TYW1B_HUMAN Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA. 531 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity AGTCAGGATTCCCCAGGGACA 0.537 EPO 2056 broad.mit.edu 37 7 100319586 100319586 + Missense_Mutation SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr7:100319586C>T uc003uwi.3 + 3 341 c.160_splice c.e3-1 p.T54_splice EPO_uc011kkc.1_Splice_Site_p.T54_splice NM_000799 NP_000790 P01588 EPO_HUMAN Homo sapiens erythropoietin (EPO), mRNA. 54 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 cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|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) GCATTTCAGACGGGCTGTGCT 0.532 LAMB1 3912 broad.mit.edu 37 7 107575937 107575937 + Nonsense_Mutation SNP G G A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr7:107575937G>A uc003vev.2 - 24 4344 c.4183C>T c.(4183-4185)Caa>Taa p.Q1395* LAMB1_uc003vew.2_Nonsense_Mutation_p.Q1371* NM_002291 NP_002282 P07942 LAMB1_HUMAN Homo sapiens laminin, beta 1 (LAMB1), mRNA. 1371 Domain II. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGCTCCTCTTGTTTTTCCTTG 0.532 ASZ1 136991 broad.mit.edu 37 7 117024875 117024875 + Missense_Mutation SNP C C G TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr7:117024875C>G uc003vjb.2 - 5 655 c.592G>C c.(592-594)Gtt>Ctt p.V198L ASZ1_uc011kno.1_Missense_Mutation_p.V198L|ASZ1_uc011knp.1_5'UTR NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA. 198 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) AACTTCAAAACTATATTTTTA 0.383 IFNA10 3446 broad.mit.edu 37 9 21206859 21206859 + Missense_Mutation SNP G G A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr9:21206859G>A uc003zoq.1 - 0 284 c.238C>T c.(238-240)Ctc>Ttc p.L80F IFNA14_uc003zoo.1_Intron NM_002171 NP_002162 P01566 IFN10_HUMAN Homo sapiens interferon, alpha 10 (IFNA10), mRNA. 80 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding p.L80F(2)|p.V79A(2) endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) ATCTCATGGAGGACAGAGATG 0.483 IFNA10 3446 broad.mit.edu 37 9 21206861 21206861 + Missense_Mutation SNP A A G TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr9:21206861A>G uc003zoq.1 - 0 282 c.236T>C c.(235-237)gTc>gCc p.V79A IFNA14_uc003zoo.1_Intron NM_002171 NP_002162 P01566 IFN10_HUMAN Homo sapiens interferon, alpha 10 (IFNA10), mRNA. 79 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding p.V79A(4) endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) CTCATGGAGGACAGAGATGGC 0.488 ZNF618 114991 broad.mit.edu 37 9 116750724 116750724 + Silent SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr9:116750724C>T uc004bid.3 + 2 300 c.201C>T c.(199-201)ccC>ccT p.P67P ZNF618_uc004bib.1_Silent_p.P67P|ZNF618_uc004bic.3_Silent_p.P67P|ZNF618_uc011lxi.2_Silent_p.P67P|ZNF618_uc011lxj.2_Silent_p.P67P NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN Homo sapiens zinc finger protein 618 (ZNF618), mRNA. 67 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 CAGAGCTGCCCGATGACTACA 0.632 SNAPC4 6621 broad.mit.edu 37 9 139282191 139282192 + Splice_Site INS - - A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr9:139282191_139282192insA uc004chh.3 - 11 1239 c.1230_splice c.e11+1 p.A410_splice NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA. 410 HTH myb-type 2. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CCCGCACACTTACAGCATCTTC 0.579 NOXA1 10811 broad.mit.edu 37 9 140325755 140325755 + Missense_Mutation SNP G G A rs141558298 TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr9:140325755G>A uc004cmu.3 + 7 901 c.766G>A c.(766-768)Ggt>Agt p.G256S NOXA1_uc004cmv.3_Missense_Mutation_p.G256S|NOXA1_uc010nch.3_Missense_Mutation_p.G200S NM_006647 NP_006638 Q86UR1 NOXA1_HUMAN Homo sapiens NADPH oxidase activator 1 (NOXA1), transcript variant 1, mRNA. 256 regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process cytoplasm|NADPH oxidase complex Rac GTPase binding|superoxide-generating NADPH oxidase activator activity cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1) 9 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982) GACAGAGGTCGGTGCTGACCG 0.672 TUBBP5 643224 broad.mit.edu 37 9 141071420 141071420 + Missense_Mutation SNP G G A rs147421666 by1000genomes TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chr9:141071420G>A uc010ncq.3 + 4 Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA. p.D347N(3) CTGGTTCCCCGACAACGTAAA 0.512 ARHGAP6 395 broad.mit.edu 37 X 11160414 11160414 + Silent SNP G G A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chrX:11160414G>A uc004cup.1 - 11 3069 c.2196C>T c.(2194-2196)ttC>ttT p.F732F ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cum.1_Silent_p.F529F|ARHGAP6_uc004cun.1_Silent_p.F552F NM_013427 NP_038286 O43182 RHG06_HUMAN Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA. 732 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CCCAGATATCGAAAGGCTCCT 0.318 SCML2 10389 broad.mit.edu 37 X 18348708 18348708 + Silent SNP C C T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chrX:18348708C>T uc004cyl.2 - 3 248 c.91_splice c.e3+1 p.D31_splice SCML2_uc004cyk.3_Splice_Site|SCML2_uc010nfd.1_Splice_Site_p.D31_splice|SCML2_uc011miz.1_Intron NM_006089 NP_006080 Q9UQR0 SCML2_HUMAN Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA. 31 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) AAAACCTACCCCTTTGTACAG 0.308 DCAF8L2 347442 broad.mit.edu 37 X 27765650 27765650 + Missense_Mutation SNP C C A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chrX:27765650C>A uc011mjy.2 + 0 725 c.638C>A c.(637-639)gCc>gAc p.A213D NM_001136533 NP_001130005 Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA. central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 GGGGCAAGAGCCTTTGTGCAG 0.592 FAM47C 442444 broad.mit.edu 37 X 37028542 37028542 + Missense_Mutation SNP G G A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chrX:37028542G>A uc004ddl.2 + 0 2111 c.2059G>A c.(2059-2061)Gta>Ata p.V687I NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 687 p.R686H(1) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 AGAGACTCGCGTATCTCATCT 0.657 BCORL1 63035 broad.mit.edu 37 X 129149265 129149265 + Silent SNP G G A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chrX:129149265G>A uc022cdu.1 + 2 2561 c.2517G>A c.(2515-2517)gcG>gcA p.A839A BCORL1_uc010nrd.1_Silent_p.A741A NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA. 839 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 ACCACCAGGCGTCTCTGCTTT 0.607 GPR112 139378 broad.mit.edu 37 X 135485475 135485475 + Missense_Mutation SNP C C A TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chrX:135485475C>A uc004ezu.1 + 21 8939 c.8648C>A c.(8647-8649)aCt>aAt p.T2883N GPR112_uc010nsb.1_Missense_Mutation_p.T2678N NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 2883 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) AGCCCAACAACTCCGTTGTAA 0.498 RBMX 27316 broad.mit.edu 37 X 135961572 135961572 + Missense_Mutation SNP A A T TCGA-14-0790-01B-01D-1494-08 TCGA-14-0790-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx d63d49a0-9413-4583-a7a5-cb2c202cc085 c5b89205-c40f-42e9-bde7-3a95e32bb631 g.chrX:135961572A>T uc004fae.2 - 1 225 c.15T>A c.(13-15)gaT>gaA p.D5E RBMX_uc011mwf.1_Missense_Mutation_p.D5E|RBMX_uc004fad.1_Missense_Mutation_p.D5E|RBMX_uc011mwg.2_5'UTR|RBMX_uc004faf.2_5'UTR|SNORD61_uc004fah.1_5'Flank NM_002139 NP_002130 P38159 HNRPG_HUMAN Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA. 5 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding p.D5Y(3) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) TTCCTGGGCGATCTGCTTCAA 0.403