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 KALRN 8997 broad.mit.edu 37 3 124415066 124415066 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:124415066G>A uc003ehg.3 + 53 7790 c.7663G>A c.(7663-7665)Ggg>Agg p.G2555R KALRN_uc003ehk.3_Missense_Mutation_p.G858R NM_001024660 NP_001019831 O60229 KALRN_HUMAN Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA. 2554 Ig-like C2-type. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AAATGACCACGGGACCACATC 0.413000 36 8 0 0 0.000157383 0 0 PHC2 1912 broad.mit.edu 37 1 33797949 33797949 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:33797949G>A uc009vuh.1 - 10 2307 c.1818C>T c.(1816-1818)ttC>ttT p.F606F PHC2_uc001bxg.1_Silent_p.F605F|PHC2_uc001bxh.1_Silent_p.F577F|PHC2_uc001bxe.1_Silent_p.F70F|PHC2_uc001bxf.1_Silent_p.F20F NM_198040 NP_932157 Q8IXK0 PHC2_HUMAN Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA. 605 multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) TCTCAGGCAGGAACCCCTGTG 0.582000 50 39 0 0 0.00148497 0 0 ARHGAP5 394 broad.mit.edu 37 14 32562338 32562338 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:32562338C>T uc001wrl.3 + 1 2702 c.2463C>T c.(2461-2463)atC>atT p.I821I ARHGAP5_uc001wrm.3_Silent_p.I821I|ARHGAP5_uc001wrn.3_Silent_p.I821I|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA. 821 Rho protein signal transduction|cell adhesion cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TTGATAAAATCATTGGTGAAA 0.353000 64 15 0 0 0.000308642 0 0 RIN2 54453 broad.mit.edu 37 20 19955746 19955747 + Missense_Mutation DNP CC TT TT TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:19955746_19955747CC>TT uc002wro.2 + 7 1373_1374 c.1224_1225CC>TT c.(1222-1227)ccccgg>ccTTgg p.R409W RIN2_uc010gcu.2_Intron|RIN2_uc010gcv.2_Missense_Mutation_p.R154W NM_001242581 NP_001229510 Q8WYP3 RIN2_HUMAN Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA. 360 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 TCCCTCCACCCCGGCTGAAGAA 0.609000 39 11 0 0 6.4e-05 0 0 KCNH2 3757 broad.mit.edu 37 7 150647470 150647470 + Silent SNP G T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:150647470G>T uc003wic.3 - 8 2585 c.2184C>A c.(2182-2184)atC>atA p.I728I KCNH2_uc003wib.3_Silent_p.I388I|KCNH2_uc011kux.2_Silent_p.I632I|KCNH2_uc003wid.3_Silent_p.I388I|KCNH2_uc003wie.3_Silent_p.I728I NM_000238 NP_000229 Q12809 KCNH2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA. 728 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GGTGCAGGCAGATGTCAGCCT 0.647000 62 20 3.7963e-18 2.57231e-17 0.00047179 1 0 PDE4C 5143 broad.mit.edu 37 19 18331715 18331715 + Missense_Mutation SNP G T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:18331715G>T uc010xqc.2 - 4 1044 c.564C>A c.(562-564)aaC>aaA p.N188K PDE4C_uc002nik.4_Missense_Mutation_p.N188K|PDE4C_uc002nil.4_Missense_Mutation_p.N188K|PDE4C_uc002nig.4_Intron|PDE4C_uc002nih.4_Intron|PDE4C_uc010ebk.3_Missense_Mutation_p.N82K|PDE4C_uc002nii.4_Missense_Mutation_p.N156K|PDE4C_uc002nif.4_Intron|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_Intron|PDE4C_uc002nim.1_Intron NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA. 188 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) TGGATGAAGGGTTTCCGACGG 0.652000 18 4 0.000602214 0.00398546 0.000602214 1 0 PARP9 83666 broad.mit.edu 37 3 122259595 122259595 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:122259595C>T uc010hri.3 - 7 1739 c.1594G>A c.(1594-1596)Gca>Aca p.A532T PARP9_uc003eff.4_Missense_Mutation_p.A497T|PARP9_uc011bjs.2_Missense_Mutation_p.A497T|PARP9_uc003efg.3_Missense_Mutation_p.A77T|PARP9_uc003efi.3_Missense_Mutation_p.A497T|PARP9_uc003efh.3_Missense_Mutation_p.A532T|PARP9_uc003efj.2_Missense_Mutation_p.A497T NM_001146102 NP_113646 Q8IXQ6 PARP9_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA. 532 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding p.A532T(2) endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) TGGATCCATGCGTGGGCCTCA 0.448000 84 26 0 0 0.00106085 0 0 FCGBP 8857 broad.mit.edu 37 19 40433468 40433468 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:40433468G>A uc002omp.4 - 1 809 c.801C>T c.(799-801)ttC>ttT p.F267F NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 267 IgGFc-binding. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGGCCACAACGAAGGCCAAAT 0.597000 14 12 0 0 0.000151284 0 0 GLB1 2720 broad.mit.edu 37 3 33065758 33065758 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:33065758C>T uc011axk.1 - 11 1389 c.1272G>A c.(1270-1272)aaG>aaA p.K424K GLB1_uc003cfh.1_Silent_p.K346K|GLB1_uc003cfi.1_Silent_p.K376K|GLB1_uc003cfj.1_Silent_p.K245K NM_001079811 NP_001073279 P16278 BGAL_HUMAN Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA. 376 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) CCAAAGTGACCTTTCCATATG 0.353000 12 7 0 0 0.000157383 0 0 FAM194A 131831 broad.mit.edu 37 3 150403761 150403761 + Missense_Mutation SNP C G G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:150403761C>G uc003eyg.3 - 4 715 c.658G>C c.(658-660)Gag>Cag p.E220Q FAM194A_uc003eyh.3_Missense_Mutation_p.E74Q NM_152394 NP_689607 Q7L0X2 F194A_HUMAN Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA. 220 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 ACCTCCAGCTCATATAAAATA 0.333000 72 17 0 0 0.00047179 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54919610 54919610 + Nonsense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:54919610C>T uc003dhf.3 + 22 2101 c.2053C>T c.(2053-2055)Cag>Tag p.Q685* CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Nonsense_Mutation_p.Q591*|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Nonsense_Mutation_p.Q419*|AK092143_uc003dhk.1_Intron NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 685 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) ACCTCTGCTCCAGTGTGAGTA 0.473000 10 6 0 0 8.12818e-05 0 0 WWC1 23286 broad.mit.edu 37 5 167850762 167850763 + Missense_Mutation DNP CC TT TT TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:167850762_167850763CC>TT uc003lzu.3 + 10 1592_1593 c.1499_1500CC>TT c.(1498-1500)acc>aTT p.T500I WWC1_uc003lzv.3_Missense_Mutation_p.T500I|WWC1_uc011den.2_Missense_Mutation_p.T500I|WWC1_uc003lzw.3_Missense_Mutation_p.T299I NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA. 500 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) TGCATCACCACCATCCACGAGG 0.639000 21 33 0 0 6.4e-05 0 0 CPZ 8532 broad.mit.edu 37 4 8621144 8621144 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:8621144G>A uc003glm.3 + 10 1933 c.1759G>A c.(1759-1761)Gga>Aga p.G587R CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.G576R|CPZ_uc003gln.3_Missense_Mutation_p.G450R NM_001014447 NP_001014448 Q66K79 CBPZ_HUMAN Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA. 587 Wnt receptor signaling pathway|proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TCTGGGGATGGGACCCAAGAA 0.627000 36 11 0 0 0.00136819 0 0 SLC8A3 6547 broad.mit.edu 37 14 70522526 70522526 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:70522526G>A uc001xly.3 - 3 2647 c.1893C>T c.(1891-1893)ctC>ctT p.L631L SLC8A3_uc001xlv.3_Intron|SLC8A3_uc001xlu.3_Intron|SLC8A3_uc001xlw.3_Silent_p.L631L|SLC8A3_uc001xlx.3_Silent_p.L632L|SLC8A3_uc001xlz.3_Intron|SLC8A3_uc010ara.3_Intron|SLC8A3_uc001xma.2_Intron NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 631 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding p.A630A(1)|p.A630E(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GAGATAACAGGAGCGCTGTTT 0.413000 33 13 0 0 0.000308642 0 0 ACSL5 51703 broad.mit.edu 37 10 114177625 114177625 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:114177625C>T uc001kzu.3 + 13 1520 c.1408C>T c.(1408-1410)Cgt>Tgt p.R470C ACSL5_uc001kzs.3_Missense_Mutation_p.R414C|ACSL5_uc001kzt.3_Missense_Mutation_p.R414C|ACSL5_uc009xxz.3_Missense_Mutation_p.R414C|ACSL5_uc010qrj.2_Missense_Mutation_p.R196C NM_016234 NP_976314 Q9ULC5 ACSL5_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA. 414 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity p.R470C(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) CGGAAGGGTTCGTGTAATTGT 0.473000 78 23 0 0 0.000720815 0 0 SLC36A2 153201 broad.mit.edu 37 5 150704867 150704867 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:150704867G>A uc003lty.3 - 7 1120 c.990C>T c.(988-990)agC>agT p.S330S SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Silent_p.S132S|SLC36A2_uc010jhv.2_Silent_p.S330S NM_181776 NP_861441 Q495M3 S36A2_HUMAN Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA. 330 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCAGGTTAAGGCTTATGCTGG 0.537000 5 9 0 0 0.000274275 0 0 PDE2A 5138 broad.mit.edu 37 11 72292005 72292005 + Silent SNP G A A rs146299609 byFrequency TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:72292005G>A uc010rrc.2 - 23 2304 c.2058C>T c.(2056-2058)atC>atT p.I686I PDE2A_uc001oso.3_Silent_p.I665I|PDE2A_uc010rra.2_Silent_p.I679I|PDE2A_uc001osn.3_Silent_p.I430I|PDE2A_uc010rrb.2_Silent_p.I677I|PDE2A_uc010rrd.2_Silent_p.I571I NM_002599 NP_002590 O00408 PDE2A_HUMAN Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA. 686 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) ACAAGGCAAAGATCTCGATGT 0.512000 143 36 0 0 0.00148497 0 0 PKD1 5310 broad.mit.edu 37 16 2149654 2149654 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:2149654G>A uc002cos.1 - 29 10250 c.10041C>T c.(10039-10041)tcC>tcT p.S3347S TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.S3347S|PKD1_uc010bse.1_Non-coding_Transcript NM_001009944 NP_001009944 P98161 PKD1_HUMAN Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA. 3347 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CCTTGCTCCGGGACATCCGGA 0.647000 5 3 0 0 0.000602214 0 0 PNLIP 5406 broad.mit.edu 37 10 118306870 118306870 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:118306870G>A uc001lcm.3 + 2 154 c.111G>A c.(109-111)acG>acA p.T37T NM_000936 NP_000927 P16233 LIPP_HUMAN Homo sapiens pancreatic lipase (PNLIP), mRNA. 37 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) CAGGAATTACGGAAAGACCCC 0.428000 44 14 0 0 0.000422831 0 0 NRK 203447 broad.mit.edu 37 X 105153188 105153188 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:105153188G>A uc004emd.3 + 12 1858 c.1555G>A c.(1555-1557)Gaa>Aaa p.E519K NRK_uc010npc.1_Missense_Mutation_p.E187K NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Homo sapiens Nik related kinase (NRK), mRNA. 519 Gln-rich. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GGTACCAGAGGAATTTCAGGG 0.547000 HNSCC(51;0.14) 3 10 0 0 0.000442599 0 0 LILRA1 11024 broad.mit.edu 37 19 55085818 55085818 + Nonsense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:55085818C>T uc010ern.3 + 3 590 c.121C>T c.(121-123)Cag>Tag p.Q41* LILRA1_uc002qgg.4_Nonsense_Mutation_p.Q41*|LILRA1_uc002qgf.3_Nonsense_Mutation_p.Q41*|LILRA1_uc010yfe.1_Nonsense_Mutation_p.Q41*|LILRA1_uc010yff.1_Nonsense_Mutation_p.Q29*|LILRA1_uc010ero.3_Nonsense_Mutation_p.Q29*|LILRA1_uc010yfg.1_Nonsense_Mutation_p.Q41* O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA. 41 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity p.T40I(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TGTGATCATCCAGGGAAGTCC 0.537000 38 22 0 0 0.00047179 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217156 150217156 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:150217156G>A uc003whk.3 + 1 224 c.94G>A c.(94-96)Gaa>Aaa p.E32K GIMAP7_uc022apu.1_Missense_Mutation_p.E32K NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA. 32 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTTGGAGAGGAAATCTTTGA 0.507000 39 36 0 0 0.00058488 0 0 DMP1 1758 broad.mit.edu 37 4 88583543 88583543 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:88583543G>A uc003hqv.3 + 5 717 c.613G>A c.(613-615)Gga>Aga p.G205R DMP1_uc003hqw.3_Missense_Mutation_p.G189R NM_004407 NP_004398 Q13316 DMP1_HUMAN Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA. 205 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) GAGCAGCCATGGAGACGGCTC 0.572000 34 8 0 0 0.000274275 0 0 EVC2 132884 broad.mit.edu 37 4 5687164 5687164 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:5687164G>A uc003gij.3 - 5 803 c.749C>T c.(748-750)gCt>gTt p.A250V EVC2_uc003gik.3_Missense_Mutation_p.A170V|EVC2_uc011bwb.2_5'UTR NM_147127 NP_667338 Q86UK5 LBN_HUMAN Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA. 250 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 GAGGTCTCCAGCCTGGAGCGT 0.587000 58 13 0 0 0.000151284 0 0 EGFR 1956 broad.mit.edu 37 7 55214303 55214303 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:55214303C>T uc003tqk.3 + 3 675 c.429C>T c.(427-429)atC>atT p.I143I EGFR_uc003tqh.3_Silent_p.I143I|EGFR_uc003tqi.3_Silent_p.I143I|EGFR_uc003tqj.3_Silent_p.I143I|EGFR_uc022adm.1_Silent_p.I143I|EGFR_uc010kzg.2_Intron|EGFR_uc022adn.1_Intron|EGFR_uc011kco.2_Silent_p.I90I NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 143 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 MAP kinase activity|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 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 UV-A|response to stress Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5) 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) CCGCAGAAATCCTGCATGGCG 0.517000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 41 5 0 0 0.00116845 0 0 FHL3 2275 broad.mit.edu 37 1 38465046 38465046 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:38465046G>A uc001cck.3 - 1 218 c.39C>T c.(37-39)tcC>tcT p.S13S FHL3_uc001ccm.3_Intron|FHL3_uc009vvl.2_Silent_p.S13S NM_004468 NP_004459 Q13643 FHL3_HUMAN Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA. 13 muscle organ development zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GTCCATACAGGGACTCGTTGC 0.542000 10 4 0 0 0.000602214 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 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 49 65 0 0 0.000781405 0 0 CABP4 57010 broad.mit.edu 37 11 67223192 67223192 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:67223192C>T uc001olo.3 + 0 375 c.298C>T c.(298-300)Cgt>Tgt p.R100C GPR152_uc001olm.3_5'Flank|CABP4_uc001oln.3_5'UTR NM_145200 NP_660201 P57796 CABP4_HUMAN Homo sapiens calcium binding protein 4 (CABP4), mRNA. 100 visual perception cytoplasm|extracellular region|terminal button calcium ion binding central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CCACCGACATCGTCCTGACTC 0.677000 12 8 0 0 0.000274275 0 0 ABCA12 26154 broad.mit.edu 37 2 215910714 215910714 + Missense_Mutation SNP T A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:215910714T>A uc002vew.3 - 6 939 c.719A>T c.(718-720)aAg>aTg p.K240M ABCA12_uc010zjn.2_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 240 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity p.K240T(2) NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AAACACTATCTTCTGATTGTT 0.363000 43 13 0 0 0.000219431 0 0 ZNF428 126299 broad.mit.edu 37 19 44111830 44111830 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:44111830G>A uc002oxa.3 - 2 941 c.506C>T c.(505-507)tCc>tTc p.S169F SRRM5_uc002oxb.2_Intron NM_182498 NP_872304 Q96B54 ZN428_HUMAN Homo sapiens zinc finger protein 428 (ZNF428), mRNA. 169 intracellular zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 5 Prostate(69;0.0153) GTTGTCGAAGGAATCCTCACA 0.652000 16 4 0 0 0.000602214 0 0 TRIP12 9320 broad.mit.edu 37 2 230655878 230655878 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:230655878G>A uc002vpx.1 - 29 4533 c.4424C>T c.(4423-4425)tCc>tTc p.S1475F TRIP12_uc021vxw.1_Missense_Mutation_p.S1460F|TRIP12_uc002vpy.1_Missense_Mutation_p.S1157F|TRIP12_uc002vpw.1_Missense_Mutation_p.S1427F NM_004238 NP_004229 Q14669 TRIPC_HUMAN Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA. 1427 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) ATTTCTAGGGGAAGTTTTCGT 0.398000 73 40 0 0 0.000589545 0 0 TRAF1 7185 broad.mit.edu 37 9 123675942 123675942 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:123675942C>T uc004bku.2 - 4 941 c.369G>A c.(367-369)atG>atA p.M123I TRAF1_uc011lyg.2_Missense_Mutation_p.M1I|TRAF1_uc010mvl.2_Missense_Mutation_p.M123I NM_005658 NP_001177876 Q13077 TRAF1_HUMAN Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA. 123 apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction cytoplasm protein binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2) 22 TCCACTGTTTCATGAACCCCA 0.612000 25 22 0 0 0.000295444 0 0 C11orf70 85016 broad.mit.edu 37 11 101946721 101946721 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:101946721G>A uc001pgp.3 + 4 586 c.553G>A c.(553-555)Gat>Aat p.D185N C11orf70_uc001pgo.3_3'UTR|C11orf70_uc001pgq.3_Missense_Mutation_p.D147N NM_032930 NP_116319 Q9BRQ4 CK070_HUMAN Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA. 185 breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2) 12 all_epithelial(12;0.0137) Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0335) TCAATATGAGGATGTGATTAG 0.358000 54 34 0 0 0.000692331 0 0 ACSM2B 348158 broad.mit.edu 37 16 20570742 20570742 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:20570742G>A uc002dhj.4 - 3 415 c.205C>T c.(205-207)Ctg>Ttg p.L69L ACSM2B_uc002dhk.4_Silent_p.L69L|ACSM2B_uc010bwf.1_Silent_p.L69L NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 69 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 ACCCACCACAGGGCTGGGCTT 0.527000 14 7 0 0 0.000978159 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55024592 55024592 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr18:55024592C>T uc002lgn.3 + 2 1108 c.751C>T c.(751-753)Cac>Tac p.H251Y NM_015879 NP_056963 O43173 SIA8C_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA. 251 N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) ATTTTTCTTCCACACTTCAGC 0.403000 22 32 0 0 0.000339439 0 0 GPR137 56834 broad.mit.edu 37 11 64056683 64056683 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:64056683C>T uc010rni.2 + 8 1302 c.1274C>T c.(1273-1275)cCc>cTc p.P425L GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_3'UTR|GPR137_uc001nzi.3_3'UTR|GPR137_uc021qkt.1_Missense_Mutation_p.P367L|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.4_5'Flank|KCNK4_uc001nzn.1_5'Flank NM_001170726 NP_001164197 Q96N19 G137A_HUMAN Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA. 367 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 CCTCCCTCCCCCACAGAATAC 0.647000 38 10 0 0 0.000442599 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48809178 48809178 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:48809178C>T uc002rwp.2 + 1 1520 c.1406C>T c.(1405-1407)tCc>tTc p.S469F STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.S469F|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.S469F|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.S469F|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.S469F NM_172311 NP_758515 B7ZL16 B7ZL16_HUMAN Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA. 469 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex p.E468*(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CGAGATGAATCCTATTATGAG 0.368000 55 46 0 0 0.000781405 0 0 SLC22A9 114571 broad.mit.edu 37 11 63143144 63143144 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:63143144C>T uc001nww.3 + 4 1126 c.858C>T c.(856-858)ctC>ctT p.L286L SLC22A9_uc001nwx.3_Non-coding_Transcript NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA. 286 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CTCGGTGGCTCATTATCAACA 0.448000 49 9 0 0 0.000274275 0 0 TCRA 0 broad.mit.edu 37 14 22363157 22363157 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:22363157G>A uc021rpj.1 + 1 459 c.288G>A c.(286-288)acG>acA p.T96T TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron RecName: Full=T-cell receptor alpha chain V region PY14; Flags: Precursor; TCCACCTGACGAAACCCTCAG 0.507000 42 20 0 0 0.00121646 0 0 LILRB5 10990 broad.mit.edu 37 19 54759989 54759989 + Nonsense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:54759989C>T uc010yer.1 - 3 656 c.545G>A c.(544-546)tGg>tAg p.W182* LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Nonsense_Mutation_p.W191*|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Nonsense_Mutation_p.W191*|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Intron O75023 LIRB5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA. 191 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCTGAACCTCCACCTGCAGCT 0.567000 25 26 0 0 0.000720815 0 0 LINC00207 388910 broad.mit.edu 37 22 44966447 44966447 + RNA SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr22:44966447G>A uc011aqg.2 + 2 c.237G>A LINC00207_uc021wre.1_Non-coding_Transcript|LINC00207_uc011aqh.2_Non-coding_Transcript Homo sapiens long intergenic non-protein coding RNA 207 (LINC00207), transcript variant 1, non-coding RNA. lung(3) 3 AACCAGAGGGGAACACCGTGC 0.507000 5 5 0 0 8.12818e-05 0 0 PAM 5066 broad.mit.edu 37 5 102361011 102361011 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:102361011C>T uc003knt.3 + 22 3035 c.2662C>T c.(2662-2664)Cgg>Tgg p.R888W PAM_uc003knw.3_Missense_Mutation_p.R888W|PAM_uc003kns.3_Missense_Mutation_p.R781W|PAM_uc003knu.3_Intron|PAM_uc011cuz.2_Missense_Mutation_p.R790W|PAM_uc003knv.3_Intron|PAM_uc003knz.3_Missense_Mutation_p.R128W NM_000919 NP_000910 P19021 AMD_HUMAN Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA. 888 peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) CATATTTATTCGGTGGAAAAA 0.473000 24 56 0 0 0.000781405 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 143613 143613 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:143613C>T uc003jak.2 + 2 788 c.738C>T c.(736-738)atC>atT p.I246I NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA. 246 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) TCCATAGCATCCCCAGGTGGG 0.662000 27 6 0 0 0.000157383 0 0 SCN9A 6335 broad.mit.edu 37 2 167108350 167108351 + Missense_Mutation DNP GG TA TA TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:167108350_167108351GG>TA uc010fpl.3 - 17 3704_3705 c.3363_3364CC>TA c.(3361-3366)aaccct>aaTAct p.P1122T BC051759_uc002udp.3_Non-coding_Transcript NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 1133 voltage-gated sodium channel complex voltage-gated sodium channel activity 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) CCAGGCAAAGGGTTATCAACTG 0.450000 19 16 0 0 6.4e-05 0 0 CCDC144A 9720 broad.mit.edu 37 17 16612455 16612455 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:16612455C>T uc002gqk.1 + 4 1160 c.1084C>T c.(1084-1086)Cct>Tct p.P362S CCDC144A_uc002gql.1_Intron|CCDC144A_uc010cpj.1_5'Flank NM_014695 NP_055510 A2RUR9 C144A_HUMAN Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA. 362 CGAGACATTTCCTGAACAAAA 0.378000 70 46 0 0 0.000781405 0 0 SCCPDH 51097 broad.mit.edu 37 1 246887838 246887838 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:246887838C>T uc001ibr.3 + 0 461 c.114C>T c.(112-114)tcC>tcT p.S38S NM_016002 NP_057086 Q8NBX0 SCPDH_HUMAN Homo sapiens saccharopine dehydrogenase (putative) (SCCPDH), mRNA. 38 SSRLPWA -> TQPALG (in Ref. 1; AAD34044). midbody binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1) 17 all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618) all_cancers(173;0.0343) OV - Ovarian serous cystadenocarcinoma(106;0.00323) GBM - Glioblastoma multiforme(49;0.0896) AGCGGAGCTCCCGCCTGCCCT 0.736000 11 8 0 0 0.000274275 0 0 ERN2 10595 broad.mit.edu 37 16 23716310 23716310 + Nonsense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:23716310G>A uc002dma.4 - 7 1061 c.892C>T c.(892-894)Cga>Tga p.R298* ERN2_uc010bxp.3_Nonsense_Mutation_p.R298*|ERN2_uc010bxq.1_Nonsense_Mutation_p.R106* NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA. 250 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AGAGTGTCTCGAGCCAGCGTG 0.672000 49 7 0 0 8.12818e-05 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 67309 67309 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrGL000209.1:67309G>A uc002qud.4 + 5 964 c.891G>A c.(889-891)atG>atA p.M297I KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_Missense_Mutation_p.E293K|KIR2DL2_uc010yic.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evd.3_Missense_Mutation_p.E337K|KIR2DL2_uc002quc.4_Missense_Mutation_p.M275I|KIR2DL2_uc002quh.4_Missense_Mutation_p.M184I|KIR2DL2_uc002que.4_Missense_Mutation_p.M262I|KIR2DL2_uc002quf.4_Missense_Mutation_p.M167I|KIR2DL2_uc010eve.3_Intron|KIR2DL2_uc002qug.4_Missense_Mutation_p.M240I|KIR2DL2_uc010evf.3_Non-coding_Transcript|KIR2DL2_uc010evg.1_5'Flank|KIR2DL2_uc010evh.1_5'Flank|KIR2DL2_uc002qui.2_5'Flank|KIR2DL2_uc021vdb.1_5'Flank|KIR2DL2_uc010yie.2_5'Flank NM_002255 NP_002246 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA. 277 regulation of immune response integral to membrane|plasma membrane receptor activity CTGCTGTAATGAACCAAGAGC 0.512000 34 5 0 0 0.000274275 0 0 LDLR 3949 broad.mit.edu 37 19 11210922 11210922 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:11210922G>A uc002mqk.4 + 1 278 c.91G>A c.(91-93)Gag>Aag p.E31K LDLR_uc010xlk.2_Missense_Mutation_p.E31K|LDLR_uc010xll.2_Missense_Mutation_p.E31K|LDLR_uc021upc.1_Splice_Site_p.D31_splice|LDLR_uc010xln.2_Missense_Mutation_p.E31K|LDLR_uc010xlo.2_Missense_Mutation_p.E31K|LDLR_uc010xlm.2_Missense_Mutation_p.R5Q|LDLR_uc021upd.1_5'UTR NM_000527 NP_000518 P01130 LDLR_HUMAN Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA. 31 LDL-receptor class A 1. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.E31K(2)|p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CGAAAGAAACGAGTTCCAGTG 0.532000 164 45 0 0 0.000781405 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2307182 2307183 + Missense_Mutation DNP GG AA AA TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:2307182_2307183GG>AA uc003gex.2 - 7 1204_1205 c.884_885CC>TT c.(883-885)ccc>cTT p.P295L ZFYVE28_uc011bvk.2_Missense_Mutation_p.P225L|ZFYVE28_uc011bvl.2_Missense_Mutation_p.P265L|ZFYVE28_uc003gew.2_Missense_Mutation_p.P181L NM_020972 NP_001166130 Q9HCC9 LST2_HUMAN Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA. 295 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 CTGCGCGGATGGGGAACTCCAC 0.629000 39 8 0 0 6.4e-05 0 0 MYH8 4626 broad.mit.edu 37 17 10304912 10304912 + Missense_Mutation SNP A G G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:10304912A>G uc002gmm.2 - 22 2974 c.2879T>C c.(2878-2880)cTt>cCt p.L960P AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 960 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TGTCAGCTCAAGGTCATCAAT 0.443000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 187 108 0 0 0.000781405 0 0 DEFB119 245932 broad.mit.edu 37 20 29965143 29965143 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:29965143G>A uc002wvt.3 - 1 281 c.161C>T c.(160-162)tCc>tTc p.S54F DEFB119_uc002wvs.3_3'UTR NM_153289 NP_695021 Q8N690 DB119_HUMAN Homo sapiens defensin, beta 119 (DEFB119), transcript variant 1, mRNA. 54 defense response to bacterium extracellular region large_intestine(2)|lung(1)|prostate(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) GAGGCAGCAGGACTGACAATT 0.483000 99 118 0 0 0.000781405 0 0 UBC 7316 broad.mit.edu 37 17 21730947 21730947 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:21730947C>T uc002gyy.3 + 1 374 c.249C>T c.(247-249)acC>acT p.T83T P0CG48 UBC_HUMAN SubName: Full=Uncharacterized protein; 235 Ubiquitin-like 2. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TCGTGAAGACCCTGACCGGCA 0.552000 33 8 0 0 0.000151284 0 0 DMC1 11144 broad.mit.edu 37 22 38934573 38934573 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr22:38934573G>A uc003avz.1 - 9 806 c.631C>T c.(631-633)Cat>Tat p.H211Y DMC1_uc011anv.1_Missense_Mutation_p.H156Y NM_007068 NP_008999 Q14565 DMC1_HUMAN Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA. 211 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 Melanoma(58;0.0286) GCTTCTTCATGGAACTTTGCT 0.353000 Homologous recombination 211 77 0 0 0.000781405 0 0 PDE4D 5144 broad.mit.edu 37 5 58289244 58289244 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:58289244G>A uc003jsa.2 - 6 1142 c.970C>T c.(970-972)Cgg>Tgg p.R324W PDE4D_uc003jrx.2_Missense_Mutation_p.R188W|PDE4D_uc003jry.3_Missense_Mutation_p.R22W|PDE4D_uc003jrz.3_Missense_Mutation_p.R260W|PDE4D_uc003jsb.3_Missense_Mutation_p.R263W|PDE4D_uc003jrt.2_Missense_Mutation_p.R22W|PDE4D_uc003jru.3_Missense_Mutation_p.R100W|PDE4D_uc003jrv.2_Missense_Mutation_p.R194W|PDE4D_uc003jrw.2_Missense_Mutation_p.R202W|PDE4D_uc010iwi.1_3'UTR|PDE4D_uc003jrs.2_Missense_Mutation_p.R33W NM_001104631 NP_001098101 Q08499 PDE4D_HUMAN Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 1, mRNA. 324 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) TTTCCAGACCGACTCATTTCA 0.318000 28 39 0 0 0.000781405 0 0 ANPEP 290 broad.mit.edu 37 15 90328627 90328627 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:90328627C>T uc002bop.4 - 20 3149 c.2857G>A c.(2857-2859)Gag>Aag p.E953K NM_001150 NP_001141 P15144 AMPN_HUMAN Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA. 953 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms ER-Golgi intermediate compartment|cytosol|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) TCCTTGTTCTCCTTCACCCAC 0.572000 108 16 0 0 0.00074312 0 0 GPR65 8477 broad.mit.edu 37 14 88478080 88478080 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:88478080G>A uc021rxh.1 + 0 889 c.889G>A c.(889-891)Gga>Aga p.G297R GPR65_uc001xvv.3_Missense_Mutation_p.G297R NM_003608 NP_003599 Q8IYL9 PSYR_HUMAN Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA. 297 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 AACCGAAACAGGAAGATATGA 0.348000 40 26 0 0 0.000878237 0 0 CHD4 1108 broad.mit.edu 37 12 6690874 6690874 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:6690874G>A uc001qpo.3 - 30 4786 c.4622C>T c.(4621-4623)cCt>cTt p.P1541L CHD4_uc001qpn.3_Missense_Mutation_p.P1534L|CHD4_uc001qpp.3_Missense_Mutation_p.P1566L|AK096395_uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank NM_001273 NP_001264 Q14839 CHD4_HUMAN Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA. 1541 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GGAGGGTGTAGGAGTTTTTGG 0.542000 54 65 0 0 0.000781405 0 0 SDK2 54549 broad.mit.edu 37 17 71346892 71346892 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:71346892G>A uc010dfm.3 - 41 5796 c.5796C>T c.(5794-5796)ttC>ttT p.F1932F SDK2_uc002jjt.4_Silent_p.F1072F NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 1932 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 TGACCACCAAGAACCACCACT 0.552000 59 23 0 0 0.00106085 0 0 MUC16 94025 broad.mit.edu 37 19 8995663 8995663 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:8995663C>T uc002mkp.3 - 62 41529 c.41325G>A c.(41323-41325)aaG>aaA p.K13775K MUC16_uc010dwi.3_Intron|MUC16_uc010dwj.3_Silent_p.K592K|MUC16_uc021uog.1_Non-coding_Transcript NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13777 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 AGGCTGGAGTCTTAGATGCTC 0.488000 18 5 0 0 0.000602214 0 0 VWF 7450 broad.mit.edu 37 12 6230478 6230478 + Missense_Mutation SNP C G G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:6230478C>G uc001qnn.1 - 2 332 c.82G>C c.(82-84)Ggc>Cgc p.G28R VWF_uc010set.1_Missense_Mutation_p.G28R|VWF_uc001qno.1_Missense_Mutation_p.G65R NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 28 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity 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) GATGACCTGCCGCGAGTTCCT 0.572000 19 15 0 0 0.00074312 0 0 CD1E 913 broad.mit.edu 37 1 158325195 158325195 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:158325195C>T uc001fse.3 + 2 754 c.461C>T c.(460-462)tCc>tTc p.S154F CD1E_uc010pid.2_Missense_Mutation_p.S152F|CD1E_uc010pie.2_Missense_Mutation_p.S55F|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.S154F|CD1E_uc001fsf.3_Missense_Mutation_p.S154F|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Missense_Mutation_p.S55F|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.S154F|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank NM_030893 NP_112155 P15812 CD1E_HUMAN Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA. 154 antigen processing and presentation|immune response Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) CAAGGAATTTCCTGGGAGCCA 0.448000 114 21 0 0 0.000229342 0 0 FARS2 10667 broad.mit.edu 37 6 5431306 5431306 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:5431306C>T uc010jnv.1 + 3 1141 c.805C>T c.(805-807)Cct>Tct p.P269S FARS2_uc003mwr.2_Missense_Mutation_p.P269S NM_006567 NP_006558 O95363 SYFM_HUMAN Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA. 269 phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding p.P269H(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2) 15 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) CTGCTACTTCCCTTTTACACA 0.428000 79 31 0 0 0.000491102 0 0 MAMDC4 158056 broad.mit.edu 37 9 139754341 139754341 + Missense_Mutation SNP A C C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:139754341A>C uc004cjs.3 + 25 3247 c.3197A>C c.(3196-3198)aAc>aCc p.N1066T MAMDC4_uc011mej.2_Missense_Mutation_p.N403T NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN Homo sapiens MAM domain containing 4 (MAMDC4), mRNA. 1145 MAM 6. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CCCACAGGGAACACAGCCGCA 0.652000 27 6 0 0 0.000157383 0 0 PTPN4 5775 broad.mit.edu 37 2 120702675 120702675 + Silent SNP A G G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:120702675A>G uc002tmf.1 + 15 2145 c.1374A>G c.(1372-1374)ggA>ggG p.G458G PTPN4_uc010flj.1_Silent_p.G171G|PTPN4_uc010yyr.1_Silent_p.G91G NM_002830 NP_002821 P29074 PTN4_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA. 458 cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) AGACCCCTGGAGATGGGAAGC 0.363000 55 13 0 0 0.000219431 0 0 CHFR 55743 broad.mit.edu 37 12 133448935 133448935 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:133448935C>T uc001ulf.2 - 3 363 c.279G>A c.(277-279)caG>caA p.Q93Q CHFR_uc001ulc.1_Non-coding_Transcript|CHFR_uc001uld.2_Silent_p.Q93Q|CHFR_uc001ule.2_Silent_p.Q93Q|CHFR_uc010tbs.1_Silent_p.Q93Q|CHFR_uc010tbt.1_Silent_p.Q93Q NM_001161344 NP_001154816 Q96EP1 CHFR_HUMAN Homo sapiens checkpoint with forkhead and ring finger domains (CHFR), transcript variant 1, mRNA. 93 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) AAGGGCATGTCTGCTTCTTAA 0.428000 41 36 0 0 0.00148497 0 0 TACC2 10579 broad.mit.edu 37 10 123845037 123845037 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:123845037G>A uc001lfv.3 + 3 3382 c.3022G>A c.(3022-3024)Gaa>Aaa p.E1008K TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.E1008K|TACC2_uc010qtv.2_Missense_Mutation_p.E1008K NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 1008 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CAGCCAGCATGAAGAAGCATG 0.532000 21 9 0 0 0.000274275 0 0 THSD7B 80731 broad.mit.edu 37 2 137928475 137928475 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:137928475C>T uc002tva.1 + 5 1597 c.1597C>T c.(1597-1599)Cgt>Tgt p.R533C THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.R423C NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CCTGGGACATCGTATTCTGAA 0.502000 24 7 0 0 0.000157383 0 0 KRT72 140807 broad.mit.edu 37 12 52994971 52994971 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:52994971G>A uc001sar.2 - 0 352 c.266C>T c.(265-267)cCc>cTc p.P89L KRT72_uc001saq.2_Missense_Mutation_p.P89L|KRT72_uc010sns.1_Missense_Mutation_p.P89L|KRT72_uc010snt.1_5'UTR NM_001146225 NP_542785 Q14CN4 K2C72_HUMAN Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA. 89 Gly-rich.|Head. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) GCACACGGAGGGACACTTGGG 0.736000 12 5 0 0 0.00116845 0 0 CD96 10225 broad.mit.edu 37 3 111368615 111368615 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:111368615G>A uc003dxw.3 + 14 1890 c.1720G>A c.(1720-1722)Gaa>Aaa p.E574K CD96_uc003dxx.3_Missense_Mutation_p.E558K|CD96_uc010hpy.1_Missense_Mutation_p.E557K NM_198196 NP_937839 P40200 TACT_HUMAN Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA. 574 cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 AGAGCCCAACGAAAGTGATCT 0.463000 Opitz Trigonocephaly syndrome 72 13 0 0 0.000219431 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688745 26688745 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr22:26688745C>T uc003acb.3 + 1 664 c.468C>T c.(466-468)ctC>ctT p.L156L SEZ6L_uc003acd.3_Silent_p.L156L|SEZ6L_uc011akd.2_Silent_p.L156L|SEZ6L_uc003ace.3_Silent_p.L156L|SEZ6L_uc011akc.2_Silent_p.L156L|SEZ6L_uc003acc.3_Silent_p.L156L|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 156 endoplasmic reticulum membrane|integral to membrane p.L156I(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GCCTAGATCTCCTCTCCTCCT 0.667000 33 12 0 0 0.00136819 0 0 SLC2A14 144195 broad.mit.edu 37 12 7970528 7970528 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:7970528C>T uc010sgh.2 - 8 1309 c.1288G>A c.(1288-1290)Gaa>Aaa p.E430K SLC2A14_uc001qtk.3_Missense_Mutation_p.E415K|SLC2A14_uc001qtl.3_Missense_Mutation_p.E392K|SLC2A14_uc001qtm.3_Missense_Mutation_p.E392K|SLC2A14_uc010sgg.2_Missense_Mutation_p.E306K|SLC2A14_uc001qtn.3_Missense_Mutation_p.E415K|SLC2A14_uc001qto.3_Missense_Mutation_p.E50K NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA. 415 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity p.A429A(1)|p.E415K(1) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) CTGAAGAGTTCGGCCACAATA 0.557000 51 16 0 0 0.00074312 0 0 DCC 1630 broad.mit.edu 37 18 50985644 50985644 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr18:50985644G>A uc002lfe.2 + 23 4051 c.3435G>A c.(3433-3435)caG>caA p.Q1145Q DCC_uc010dpf.2_Silent_p.Q780Q NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 1145 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGGGCAGCCAGAAGGACCTCC 0.488000 15 25 0 0 0.00106085 0 0 LOC728819 728819 broad.mit.edu 37 2 43902632 43902632 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:43902632C>T uc010fav.1 - 0 830 c.830G>A c.(829-831)gGa>gAa p.G277E PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.2_Intron NM_001101330 NP_001094800 Homo sapiens hCG1645220 (LOC728819), mRNA. all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GGGGGTCAGTCCATTGAAAGT 0.433000 357 105 0 0 0.000781405 0 0 RAB30 27314 broad.mit.edu 37 11 82693213 82693213 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:82693213G>A uc001ozu.3 - 5 867 c.606C>T c.(604-606)ttC>ttT p.F202F RAB30_uc009yve.3_Silent_p.F200F|RAB30_uc010rst.2_Silent_p.F202F|RAB30_uc001ozv.3_3'UTR NM_014488 NP_055303 Q15771 RAB30_HUMAN Homo sapiens RAB30, member RAS oncogene family (RAB30), mRNA. 202 protein transport|small GTPase mediated signal transduction Golgi stack|plasma membrane GTP binding|GTPase activity endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 GCCTTTAGTTGAAATTACAAC 0.493000 61 17 0 0 0.000958276 0 0 DEF8 54849 broad.mit.edu 37 16 90025448 90025448 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:90025448C>T uc002fpn.2 + 5 715 c.582C>T c.(580-582)atC>atT p.I194I DEF8_uc021tmu.1_Silent_p.I133I|DEF8_uc002fpl.3_Silent_p.I133I|DEF8_uc002fpm.3_Silent_p.I133I|DEF8_uc002fpo.2_Silent_p.I133I|DEF8_uc002fpp.2_Silent_p.I123I|DEF8_uc021tmv.1_Silent_p.I133I|DEF8_uc010vpq.2_Silent_p.I73I|DEF8_uc010vpr.2_Silent_p.I133I NM_207514 NP_001229746 Q6ZN54 DEFI8_HUMAN Homo sapiens differentially expressed in FDCP 8 homolog (mouse) (DEF8), transcript variant 1, mRNA. 194 intracellular signal transduction zinc ion binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) AGCCAAACATCCGAGTGCTCC 0.557000 60 46 0 0 0.000781405 0 0 SDK1 221935 broad.mit.edu 37 7 4152923 4152923 + Missense_Mutation SNP T A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:4152923T>A uc003smx.3 + 23 3576 c.3437T>A c.(3436-3438)tTt>tAt p.F1146Y SDK1_uc010kso.3_Missense_Mutation_p.F422Y NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 1146 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) TCCTTTAGATTTCGAATGAAG 0.537000 297 49 0 0 0.000781405 0 0 KIAA0317 9870 broad.mit.edu 37 14 75142432 75142433 + Missense_Mutation DNP CG AT AT TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:75142432_75142433CG>AT uc001xqb.3 - 7 1554_1555 c.1049_1050CG>AT c.(1048-1050)ccg>cAT p.P350H KIAA0317_uc010tut.1_Missense_Mutation_p.P189H NM_001039479 NP_001034568 O15033 K0317_HUMAN Homo sapiens KIAA0317 (KIAA0317), mRNA. 350 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane|intracellular ubiquitin-protein ligase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 BRCA - Breast invasive adenocarcinoma(234;0.00404) ACACCTTCTTCGGTTTCTTCAC 0.510000 364 9 0 0 6.4e-05 0 0 RIPK3 11035 broad.mit.edu 37 14 24806441 24806441 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:24806441C>T uc001wpb.3 - 7 1336 c.1126G>A c.(1126-1128)Gag>Aag p.E376K ADCY4_uc001wow.3_5'Flank|ADCY4_uc010toh.2_5'Flank|ADCY4_uc001wox.3_5'Flank|ADCY4_uc001woy.3_5'Flank|ADCY4_uc001woz.4_5'Flank|RIPK3_uc001wpa.3_Missense_Mutation_p.E176K|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_Missense_Mutation_p.E155K NM_006871 NP_006862 Q9Y572 RIPK3_HUMAN Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA. 376 apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) ACCTGCTCCTCTTGTGCCCTG 0.522000 82 43 0 0 0.000781405 0 0 ADH7 131 broad.mit.edu 37 4 100349080 100349080 + Missense_Mutation SNP G C C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:100349080G>C uc003huv.2 - 4 691 c.450C>G c.(448-450)caC>caG p.H150Q ADH7_uc021xqj.1_Missense_Mutation_p.H158Q NM_000673 NP_000664 P40394 ADH7_HUMAN Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA. 150 HH -> GR (in Ref. 11; AA sequence). ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) TCATGAAGTGGTGGACTGGTT 0.418000 103 17 0 0 0.00121646 0 0 NDST4 64579 broad.mit.edu 37 4 115856431 115856431 + Silent SNP T G G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:115856431T>G uc003ibu.3 - 5 2146 c.1467A>C c.(1465-1467)ccA>ccC p.P489P NDST4_uc010imw.3_Non-coding_Transcript NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 489 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GGGGTCCTCCTGGATATTCTT 0.403000 64 12 0 0 0.000308642 0 0 LDB2 9079 broad.mit.edu 37 4 16504347 16504347 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:16504347C>T uc003goz.3 - 7 1357 c.1041G>A c.(1039-1041)ggG>ggA p.G347G LDB2_uc003gpa.3_3'UTR|LDB2_uc011bxh.2_Silent_p.G319G|LDB2_uc003gpb.3_Silent_p.G345G|LDB2_uc010iee.3_3'UTR|LDB2_uc011bxi.2_3'UTR NM_001290 NP_001281 O43679 LDB2_HUMAN Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA. 347 LIM domain binding|transcription cofactor activity p.L346L(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 GGCTGTTGTTCCCCAGCGCGG 0.527000 143 41 0 0 0.00148497 0 0 INPP5D 3635 broad.mit.edu 37 2 234102595 234102595 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:234102595G>A uc010zmo.2 + 21 2650 c.2497G>A c.(2497-2499)Gag>Aag p.E833K INPP5D_uc010zmp.2_Missense_Mutation_p.E832K NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA. 862 T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration cytosol SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CAAGACGAGGGAGAAGCTCTA 0.592000 15 7 0 0 0.000157383 0 0 APLP1 333 broad.mit.edu 37 19 36369521 36369521 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:36369521G>A uc002oce.3 + 13 1750 c.1612G>A c.(1612-1614)Gag>Aag p.E538K APLP1_uc010xsz.2_Missense_Mutation_p.E499K|APLP1_uc002ocf.3_Missense_Mutation_p.E539K|APLP1_uc002ocg.3_Missense_Mutation_p.E442K|APLP1_uc010xta.2_Missense_Mutation_p.E532K NM_005166 NP_005157 P51693 APLP1_HUMAN Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA. 538 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 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) CCCTGAGAAAGAGAAGATGAA 0.488000 32 5 0 0 0.00116845 0 0 GRIN3A 116443 broad.mit.edu 37 9 104448967 104448967 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:104448967C>T uc004bbp.2 - 1 1816 c.1215G>A c.(1213-1215)atG>atA p.M405I GRIN3A_uc004bbq.1_Missense_Mutation_p.M405I NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 405 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CTGGTTGGATCATGGTGGCTG 0.463000 20 53 0 0 0.000781405 0 0 MYH3 4621 broad.mit.edu 37 17 10532921 10532921 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:10532921G>A uc002gmq.2 - 39 5877 c.5789C>T c.(5788-5790)tCc>tTc p.S1930F NM_002470 NP_002461 P11055 MYH3_HUMAN Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA. 1930 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CACCCTGCTGGAGGTGAAGTC 0.562000 55 19 0 0 0.000229342 0 0 ARMC3 219681 broad.mit.edu 37 10 23250819 23250819 + Nonsense_Mutation SNP C T T rs78062147 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:23250819C>T uc001irm.4 + 6 627 c.544C>T c.(544-546)Cag>Tag p.Q182* ARMC3_uc010qcv.2_Nonsense_Mutation_p.Q182*|ARMC3_uc010qcw.2_Intron NM_173081 NP_775104 Q5W041 ARMC3_HUMAN Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA. 182 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GCAGGATTTTCAGTGTCGAGC 0.333000 22 10 0 0 0.00136819 0 0 KCNH2 3757 broad.mit.edu 37 7 150649877 150649877 + Nonsense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:150649877C>T uc003wic.3 - 5 1594 c.1193G>A c.(1192-1194)tGg>tAg p.W398* KCNH2_uc003wib.3_Nonsense_Mutation_p.W58*|KCNH2_uc011kux.2_Nonsense_Mutation_p.W302*|KCNH2_uc003wid.3_Nonsense_Mutation_p.W58*|KCNH2_uc003wie.3_Nonsense_Mutation_p.W398* NM_000238 NP_000229 Q12809 KCNH2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA. 398 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity p.W398*(3) NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CAGGATGGTCCAGCGGTGGAT 0.647000 55 39 0 0 0.000509022 0 0 ZRANB3 84083 broad.mit.edu 37 2 135982014 135982014 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:135982014C>T uc002tum.3 - 14 2349 c.2232G>A c.(2230-2232)cgG>cgA p.R744R ZRANB3_uc002tuk.3_Silent_p.R287R|ZRANB3_uc002tul.3_Silent_p.R742R NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA. 744 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) AGATGTGAATCCGGTCAGTAT 0.358000 38 14 0 0 0.000422831 0 0 OR7D4 125958 broad.mit.edu 37 19 9325330 9325330 + Missense_Mutation SNP A G G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:9325330A>G uc002mla.2 - 0 218 c.184T>C c.(184-186)Ttc>Ctc p.F62L NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 TTGGAGAGGAAGAAGTACATG 0.542000 41 13 0 0 0.000219431 0 0 APRT 353 broad.mit.edu 37 16 88876893 88876893 + Missense_Mutation SNP G C C rs3169258 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:88876893G>C uc002flv.3 - 2 294 c.259C>G c.(259-261)Cga>Gga p.R87G APRT_uc002flw.3_Missense_Mutation_p.R87G NM_000485 NP_000476 P07741 APT_HUMAN Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 1, mRNA. 87 purine ribonucleoside salvage cytosol|nucleus AMP binding|adenine phosphoribosyltransferase activity|protein binding cervix(1)|endometrium(1)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(80;0.0477) Adenine(DB00173)|Adenosine monophosphate(DB00131) CCCCGCTTTCGGATGAGCACG 0.647000 15 10 0 0 0.000673444 0 0 BCKDHB 594 broad.mit.edu 37 6 81053415 81053415 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:81053415C>T uc003pjd.2 + 9 1140 c.1073C>T c.(1072-1074)tCa>tTa p.S358L BCKDHB_uc003pje.2_Missense_Mutation_p.S358L NM_000056 NP_898871 P21953 ODBB_HUMAN Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 358 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1) 15 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) GCTCCTATATCAAGAGTATGT 0.378000 44 16 0 0 0.000308642 0 0 MUC16 94025 broad.mit.edu 37 19 9084523 9084523 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:9084523G>A uc002mkp.3 - 0 7496 c.7292C>T c.(7291-7293)tCc>tTc p.S2431F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2431 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 GGTGTTACTGGAAACAGATGG 0.512000 18 17 0 0 0.00121646 0 0 ASAH2 56624 broad.mit.edu 37 10 52002964 52002964 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:52002964C>T uc001jjd.3 - 2 508 c.508G>A c.(508-510)Gag>Aag p.E170K ASAH2_uc009xos.3_Missense_Mutation_p.E170K NM_019893 NP_063946 Q9NR71 ASAH2_HUMAN Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA. 170 apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity large_intestine(1)|lung(9)|urinary_tract(1) 11 TCACTTACCTCCAGCCTGAGC 0.428000 73 21 0 0 0.000229342 0 0 TEKT1 83659 broad.mit.edu 37 17 6716370 6716370 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:6716370G>A uc002gdt.3 - 5 742 c.632C>T c.(631-633)tCc>tTc p.S211F TEKT1_uc010vth.2_Missense_Mutation_p.S65F NM_053285 NP_444515 Q969V4 TEKT1_HUMAN Homo sapiens tektin 1 (TEKT1), mRNA. 211 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) CAGACTCACGGAGCTGAAACA 0.547000 23 13 0 0 0.000308642 0 0 COL4A5 1287 broad.mit.edu 37 X 107829912 107829912 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:107829912C>T uc022ccg.1 + 18 1302 c.1100C>T c.(1099-1101)cCt>cTt p.P367L COL4A5_uc004enz.1_Missense_Mutation_p.P367L|COL4A5_uc004eob.1_5'UTR NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 367 Triple-helical region. Missing (in APSX; juvenile type). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CCTGGGTTGCCTGGAGAAAAA 0.413000 Alport syndrome with Diffuse Leiomyomatosis 27 43 0 0 0.000509022 0 0 PRLR 5618 broad.mit.edu 37 5 35072715 35072715 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:35072715C>T uc003jjm.3 - 5 1064 c.505G>A c.(505-507)Gaa>Aaa p.E169K PRLR_uc003jjk.1_Missense_Mutation_p.E98K|PRLR_uc003jjg.2_Missense_Mutation_p.E169K|PRLR_uc003jjh.2_Missense_Mutation_p.E169K|PRLR_uc003jji.2_Missense_Mutation_p.E98K|PRLR_uc003jjj.2_Missense_Mutation_p.E169K|PRLR_uc003jjl.4_Missense_Mutation_p.E68K|PRLR_uc021xxl.1_Missense_Mutation_p.E169K|PRLR_uc010iuw.1_Missense_Mutation_p.E98K NM_000949 NP_000940 P16471 PRLR_HUMAN Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA. 169 Fibronectin type-III 2. T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AATCGAATTTCATACAGGAGC 0.443000 58 14 0 0 0.000422831 0 0 ESYT3 83850 broad.mit.edu 37 3 138179482 138179482 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:138179482C>T uc003esk.3 + 6 994 c.768C>T c.(766-768)acC>acT p.T256T ESYT3_uc010hug.2_Non-coding_Transcript NM_031913 NP_114119 A0FGR9 ESYT3_HUMAN Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA. 256 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 CTGGCCTGACCAACCTGCTGG 0.602000 136 41 0 0 0.000680045 0 0 VHL 7428 broad.mit.edu 37 3 10188264 10188264 + Missense_Mutation SNP T A A rs5030833 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:10188264T>A uc003bvc.3 + 1 620 c.407T>A c.(406-408)tTt>tAt p.F136Y VHL_uc003bvd.3_Intron NM_000551 NP_000542 P40337 VHL_HUMAN Homo sapiens von Hippel-Lindau tumor suppressor (VHL), transcript variant 1, mRNA. 136 Involved in binding to CCT complex. F -> C (in pheochromocytoma and VHLD; type II; dbSNP:rs5030833).|F -> S (in VHLD).|F -> Y (in VHLD). anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.F136fs*23(8)|p.L135fs*24(6)|p.F136V(4)|p.F136S(4)|p.F136fs*8(3)|p.F136C(2)|p.L135*(2)|p.F136del(2)|p.L135fs*7(2)|p.F136Y(2)|p.L135fs*9(2)|p.L135F(1)|p.F136I(1)|p.?fs(1)|p.F136L(1)|p.N131fs*7(1)|p.E134fs*7(1)|p.V137fs*7(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) ACTGAATTATTTGTGCCATCT 0.428000 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 76 38 0 0 0.00170553 0 0 STARD13 90627 broad.mit.edu 37 13 33700324 33700324 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr13:33700324G>A uc001uuw.3 - 6 2102 c.1976C>T c.(1975-1977)gCt>gTt p.A659V STARD13_uc001uuu.3_Missense_Mutation_p.A651V|STARD13_uc001uuv.3_Missense_Mutation_p.A541V|STARD13_uc001uux.3_Missense_Mutation_p.A624V|STARD13_uc021rhz.1_Missense_Mutation_p.A651V|STARD13_uc021ria.1_Missense_Mutation_p.A541V NM_178006 NP_443083 Q9Y3M8 STA13_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA. 659 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GCCAAAGACAGCCTTGTCTTT 0.493000 84 70 0 0 0.000781405 0 0 KCNG4 93107 broad.mit.edu 37 16 84256488 84256488 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:84256488C>T uc010voc.2 - 2 1016 c.895G>A c.(895-897)Gac>Aac p.D299N NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA. 299 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 GCCAGGATGTCGATGATGTTC 0.627000 12 6 0 0 0.000442599 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157408 26157408 + Nonsense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:26157408G>A uc022bub.1 + 0 306 c.306G>A c.(304-306)tgG>tgA p.W102* MAGEB18_uc004dbq.2_Nonsense_Mutation_p.W102* NM_173699 NP_775970 Q96M61 MAGBI_HUMAN Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA. 102 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 CTGAGGGCTGGAAAGAAGATC 0.433000 4 10 0 0 0.000442599 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64536712 64536712 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:64536712G>A uc003dmg.3 - 30 4757 c.4725C>T c.(4723-4725)tcC>tcT p.S1575S ADAMTS9_uc011bfo.2_Silent_p.S1547S|ADAMTS9_uc003dmh.1_Silent_p.S1404S|ADAMTS9_uc011bfp.1_Silent_p.S486S NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA. 1575 TSP type-1 13. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TGCGGTACCTGGAGCCTTCGC 0.488000 157 66 0 0 0.000781405 0 0 GRM3 2913 broad.mit.edu 37 7 86394591 86394591 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:86394591C>T uc003uid.3 + 1 1229 c.130C>T c.(130-132)Ctg>Ttg p.L44L GRM3_uc010lef.3_Silent_p.L42L|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 44 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TTTAGGGGGCCTGTTTCCTAT 0.413000 95 43 0 0 0.00148497 0 0 TBC1D4 9882 broad.mit.edu 37 13 75861125 75861125 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr13:75861125G>A uc001vjl.1 - 20 4047 c.3700C>T c.(3700-3702)Ctg>Ttg p.L1234L TBC1D4_uc010tht.1_Silent_p.L444L|TBC1D4_uc010thu.1_Silent_p.L391L|TBC1D4_uc010aer.2_Silent_p.L1226L|TBC1D4_uc010aes.2_Silent_p.L1171L NM_014832 NP_055647 O60343 TBCD4_HUMAN Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA. 1234 cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) AGATTTTCCAGGTTTGATTCC 0.408000 90 20 0 0 0.000375601 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457651 110457651 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:110457651C>T uc003yne.3 + 37 5657 c.5553C>T c.(5551-5553)atC>atT p.I1851I NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 1851 IPT/TIG 11. 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) CACTGGTGATCACAGGAAATG 0.488000 HNSCC(38;0.096) 23 8 0 0 0.000442599 0 0 CPNE5 57699 broad.mit.edu 37 6 36762372 36762372 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:36762372G>A uc003omr.1 - 6 526 c.459C>T c.(457-459)tcC>tcT p.S153S CPNE5_uc003oms.1_Silent_p.S115S NM_020939 NP_065990 Q9HCH3 CPNE5_HUMAN Homo sapiens copine V (CPNE5), mRNA. 153 C2 2. central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 CGTACCCGTTGGACACAGCTG 0.592000 8 12 0 0 0.00136819 0 0 PCDHB18 54660 broad.mit.edu 37 5 140616448 140616448 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:140616448C>T uc003ljc.1 + 0 2511 c.2163C>T c.(2161-2163)ctC>ctT p.L721L Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA. endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 TTCCCAATCTCCTGTCCCGCG 0.517000 10 18 0 0 0.00074312 0 0 SOAT1 6646 broad.mit.edu 37 1 179316752 179316752 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:179316752C>T uc001gml.3 + 11 1366 c.1135C>T c.(1135-1137)Ctt>Ttt p.L379F SOAT1_uc010pni.2_Missense_Mutation_p.L314F|SOAT1_uc001gmm.3_Missense_Mutation_p.L321F|SOAT1_uc010pnj.2_Missense_Mutation_p.L115F|SOAT1_uc010pnk.2_Missense_Mutation_p.L314F NM_003101 NP_003092 P35610 SOAT1_HUMAN Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 379 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) GATTCTCTTCCTTACTTTTTT 0.333000 55 42 0 0 0.000509022 0 0 SEMA6C 10500 broad.mit.edu 37 1 151109048 151109048 + Missense_Mutation SNP C A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:151109048C>A uc001ewv.3 - 11 1318 c.982G>T c.(982-984)Ggc>Tgc p.G328C SEMA6C_uc001ewu.3_Missense_Mutation_p.G328C|SEMA6C_uc001eww.3_Missense_Mutation_p.G288C NM_001178061 NP_001171532 Q9H3T2 SEM6C_HUMAN Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA. 328 Sema. integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ACGGCAGAGCCAGGGATGCTG 0.552000 164 23 1.64293e-13 1.1097e-12 0.00047179 1 0 ZNF835 90485 broad.mit.edu 37 19 57175219 57175219 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:57175219C>T uc010ygn.2 - 1 1575 c.1348G>A c.(1348-1350)Gag>Aag p.E450K NM_001005850 NP_001005850 Homo sapiens zinc finger protein 835 (ZNF835), mRNA. p.S450R(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 TTGCCGCACTCGGGGCAGGTG 0.677000 26 8 0 0 0.000274275 0 0 MARCO 8685 broad.mit.edu 37 2 119729107 119729107 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:119729107C>T uc002tln.1 + 3 589 c.457C>T c.(457-459)Cca>Tca p.P153S MARCO_uc010yyf.1_Missense_Mutation_p.P75S NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 153 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 ACAAGGCGCCCCAGGTAGGTT 0.582000 60 15 0 0 0.000958276 0 0 WSCD2 9671 broad.mit.edu 37 12 108589750 108589750 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:108589750G>A uc001tms.3 + 1 885 c.141G>A c.(139-141)ggG>ggA p.G47G WSCD2_uc001tmt.3_Silent_p.G47G NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN Homo sapiens WSC domain containing 2 (WSCD2), mRNA. 47 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 CTGTCTCGGGGAACCAGGCGA 0.612000 68 54 0 0 0.000781405 0 0 HYDIN 54768 broad.mit.edu 37 GL000192.1 160183 160183 + RNA SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrGL000192.1:160183C>T uc010yih.1 - 11 c.2239G>A Q4G0P3 HYDIN_HUMAN Homo sapiens mRNA for KIAA1864 protein, partial cds. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TCGTCGGGCTCATGGGGAGCT 0.642000 24 5 0 0 0.000602214 0 0 IKBKE 9641 broad.mit.edu 37 1 206653840 206653840 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:206653840C>T uc001hdz.2 + 12 1969 c.1391C>T c.(1390-1392)tCc>tTc p.S464F IKBKE_uc001hea.2_Missense_Mutation_p.S379F|IKBKE_uc009xbv.2_Missense_Mutation_p.S464F NM_014002 NP_001180250 Q14164 IKKE_HUMAN Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA. 464 DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway PML body|cytosol|endosome membrane|plasma membrane ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) GCAAGGACATCCCTCCTCTAC 0.617000 12 9 0 0 0.000274275 0 0 ZNF337 26152 broad.mit.edu 37 20 25656459 25656459 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:25656459C>T uc002wva.3 - 3 1987 c.1465G>A c.(1465-1467)Gga>Aga p.G489R ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Missense_Mutation_p.G457R|ZNF337_uc002wvc.3_Missense_Mutation_p.G489R NM_015655 NP_056470 Homo sapiens zinc finger protein 337 (ZNF337), mRNA. breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TCCCGACATCCATAAGGCTTC 0.498000 105 35 0 0 0.000491102 0 0 PIWIL4 143689 broad.mit.edu 37 11 94318641 94318641 + Silent SNP T C C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:94318641T>C uc001pfa.3 + 5 877 c.666T>C c.(664-666)atT>atC p.I222I PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript NM_152431 NP_689644 Q7Z3Z4 PIWL4_HUMAN Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA. 222 DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2) 30 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TGTACCAAATTGGACGGAACT 0.333000 120 30 0 0 0.00058488 0 0 DHX30 22907 broad.mit.edu 37 3 47882444 47882444 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:47882444C>T uc003cru.3 + 6 870 c.444C>T c.(442-444)tcC>tcT p.S148S DHX30_uc003crs.2_Silent_p.S109S|DHX30_uc003crt.3_Silent_p.S109S|DHX30_uc010hjr.1_Silent_p.S176S NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA. 148 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|RNA binding|protein binding p.G147C(2) endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GCTTTGGCTCCCCTGCCGACA 0.602000 17 7 0 0 0.000157383 0 0 NMBR 4829 broad.mit.edu 37 6 142409748 142409749 + Missense_Mutation DNP AT TG TG TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:142409748_142409749AT>TG uc003qiu.3 - 0 188_189 c.47_48AT>CA c.(46-48)aat>aCA p.N16T NM_002511 NP_002502 P28336 NMBR_HUMAN Homo sapiens neuromedin B receptor (NMBR), mRNA. 16 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) AACCGCTCTCATTCGCGCCGGT 0.619000 15 6 0 0 6.4e-05 0 0 NEGR1 257194 broad.mit.edu 37 1 72163761 72163761 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:72163761C>T uc001dfw.3 - 3 825 c.597G>A c.(595-597)ggG>ggA p.G199G NEGR1_uc001dfv.3_Silent_p.G71G|NEGR1_uc010oqs.2_Intron NM_173808 NP_776169 Q7Z3B1 NEGR1_HUMAN Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA. 199 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) ATTCATATTCCCCAGCCTGGT 0.368000 21 28 0 0 0.00127121 0 0 PCLO 27445 broad.mit.edu 37 7 82581603 82581603 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:82581603G>A uc003uhx.2 - 4 8955 c.8666C>T c.(8665-8667)tCc>tTc p.S2889F PCLO_uc003uhv.2_Missense_Mutation_p.S2889F|PCLO_uc010lec.3_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2820 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 GATTCCCTGGGATACGGTGCT 0.463000 111 49 0 0 0.000781405 0 0 LOC200726 200726 broad.mit.edu 37 2 207509006 207509006 + Missense_Mutation SNP T C C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:207509006T>C uc010fuh.1 + 1 221 c.46T>C c.(46-48)Ttc>Ctc p.F16L NM_001102659 NP_001096129 Homo sapiens hCG1657980 (LOC200726), mRNA. LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133) CCCCTTGAGCTTCACCTGCTC 0.527000 15 7 0 0 0.000157383 0 0 KIAA1462 57608 broad.mit.edu 37 10 30318722 30318722 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:30318722C>T uc009xle.2 - 2 492 c.355G>A c.(355-357)Gga>Aga p.G119R KIAA1462_uc001iux.3_Missense_Mutation_p.G119R|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_5'UTR NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 119 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TCTTGCCGTCCTCTTCTCCGG 0.577000 41 13 0 0 0.00136819 0 0 CYP2C19 1557 broad.mit.edu 37 10 96612527 96612527 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:96612527G>A uc010qnz.2 + 8 1329 c.1329G>A c.(1327-1329)atG>atA p.M443I CYP2C19_uc010qny.2_Missense_Mutation_p.M421I NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 443 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity p.R442H(2)|p.R442L(1) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TGGCCCGCATGGAGCTGTTTT 0.428000 52 8 0 0 0.000442599 0 0 ITGAL 3683 broad.mit.edu 37 16 30507776 30507776 + Missense_Mutation SNP T A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:30507776T>A uc002dyi.4 + 14 1897 c.1721T>A c.(1720-1722)gTg>gAg p.V574E ITGAL_uc002dyj.4_Missense_Mutation_p.V491E|ITGAL_uc010vev.2_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA. 574 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GGGACCCAAGTGCTCTCAGGA 0.572000 54 14 0 0 0.00121646 0 0 PSG9 5678 broad.mit.edu 37 19 43762487 43762487 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:43762487C>T uc002owd.4 - 4 1209 c.1110G>A c.(1108-1110)ggG>ggA p.G370G PSG9_uc002owe.4_Silent_p.G277G|PSG9_uc010xwm.2_Silent_p.G277G|PSG9_uc002owf.4_Silent_p.G184G|PSG9_uc002owg.2_Silent_p.G277G NM_002784 NP_002775 Q00887 PSG9_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA. 370 Ig-like C2-type 3. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GCTGAAACTTCCCATTAATTG 0.443000 128 91 0 0 0.000781405 0 0 STAB1 23166 broad.mit.edu 37 3 52556577 52556577 + Missense_Mutation SNP G A A rs148752341 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:52556577G>A uc003dej.3 + 60 6691 c.6617G>A c.(6616-6618)cGg>cAg p.R2206Q STAB1_uc003dek.1_Missense_Mutation_p.R221Q|STAB1_uc003del.3_Missense_Mutation_p.R93Q NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 2206 Link. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCAGAGAAACGGGCTGGCGTT 0.612000 47 13 0 0 0.00074312 0 0 abParts 0 broad.mit.edu 37 2 90139107 90139107 + RNA SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:90139107G>A uc010yts.2 + 29 c.3290G>A Parts of antibodies, mostly variable regions. GACACAGCATGGACATGAGGG 0.537000 136 19 0 0 0.00152264 0 0 THAP5 168451 broad.mit.edu 37 7 108205132 108205132 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:108205132G>A uc003vfm.3 - 2 845 c.691C>T c.(691-693)Cat>Tat p.H231Y THAP5_uc003vfl.3_Missense_Mutation_p.H189Y NM_001130475 NP_872335 Q7Z6K1 THAP5_HUMAN Homo sapiens THAP domain containing 5 (THAP5), transcript variant 1, mRNA. 231 cell cycle|negative regulation of cell cycle nucleus DNA binding|metal ion binding|protease binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 TTAGCAAGATGACTGGTAGTT 0.308000 57 40 0 0 0.00170553 0 0 MORN5 254956 broad.mit.edu 37 9 124936831 124936831 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:124936831G>A uc011lyn.2 + 3 426 c.364G>A c.(364-366)Gat>Aat p.D122N MORN5_uc011lyo.1_Silent_p.T84T|MORN5_uc004blw.2_Missense_Mutation_p.D122N NM_198469 NP_940871 Q5VZ52 MORN5_HUMAN Homo sapiens MORN repeat containing 5 (MORN5), mRNA. 122 p.Y121Y(2) endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 9 GGGCTATTACGATTGTGGAGA 0.463000 56 12 0 0 0.000978159 0 0 LOC220729 220729 broad.mit.edu 37 3 197348629 197348629 + RNA SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:197348629G>A uc011bug.2 - 3 c.462C>T LOC220729_uc003fxy.3_Non-coding_Transcript|LOC220729_uc010iao.2_Intron Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene (LOC220729), non-coding RNA. CCACACAGCAGCACCGATGGG 0.562000 28 5 0 0 0.000602214 0 0 TRRAP 8295 broad.mit.edu 37 7 98601834 98601834 + Missense_Mutation SNP G C C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:98601834G>C uc003upp.3 + 66 10498 c.10289G>C c.(10288-10290)gGa>gCa p.G3430A TRRAP_uc011kis.2_Missense_Mutation_p.G3401A|TRRAP_uc003upr.3_Missense_Mutation_p.G3136A NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 3430 histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AGCGTTCCAGGATCCATGAAG 0.383000 194 19 0 0 0.00152264 0 0 KIF21B 23046 broad.mit.edu 37 1 200972894 200972894 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:200972894G>A uc001gvs.2 - 7 1349 c.1032C>T c.(1030-1032)atC>atT p.I344I KIF21B_uc009wzl.2_Silent_p.I344I|KIF21B_uc001gvr.2_Silent_p.I344I|KIF21B_uc010ppn.2_Silent_p.I344I|KIF21B_uc001gvt.1_Silent_p.I202I NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 344 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TCACACAGGCGATCATGATGG 0.567000 56 12 0 0 0.000151284 0 0 MUC16 94025 broad.mit.edu 37 19 9060353 9060353 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:9060353C>T uc002mkp.3 - 2 27297 c.27093G>A c.(27091-27093)acG>acA p.T9031T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9033 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 AGTCCTCAATCGTGGCACTAG 0.542000 28 26 0 0 0.000586117 0 0 LIFR 3977 broad.mit.edu 37 5 38482087 38482087 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:38482087C>T uc010ive.1 - 19 3236 c.2904G>A c.(2902-2904)ggG>ggA p.G968G LIFR_uc003jli.2_Silent_p.G968G NM_001127671 NP_002301 P42702 LIFR_HUMAN Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA. 968 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) CCTGTGCAGTCCCTCCAGCTT 0.468000 T PLAG1 salivary adenoma 120 38 0 0 0.00170553 0 0 COL10A1 1300 broad.mit.edu 37 6 116442962 116442962 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:116442962C>T uc003pwm.3 - 2 413 c.317G>A c.(316-318)gGg>gAg p.G106E NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron NM_000493 NP_000484 Q03692 COAA1_HUMAN Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA. 106 Triple-helical region. skeletal system development collagen metal ion binding central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 13 all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234) all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711) ACCTGGTTTCCCTACAGCTGA 0.602000 25 5 0 0 8.12818e-05 0 0 DNAJC22 79962 broad.mit.edu 37 12 49742682 49742682 + Silent SNP T C C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:49742682T>C uc001rua.3 + 1 428 c.27T>C c.(25-27)taT>taC p.Y9Y DNAJC22_uc001rub.3_Silent_p.Y9Y NM_024902 NP_079178 Q8N4W6 DJC22_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 22 (DNAJC22), mRNA. 9 protein folding integral to membrane heat shock protein binding|unfolded protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1) 10 TGGTGACCTATGCCCTCTGGG 0.642000 51 13 0 0 0.000422831 0 0 UPB1 51733 broad.mit.edu 37 22 24916425 24916425 + Nonsense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr22:24916425C>T uc003aaf.3 + 6 2157 c.862C>T c.(862-864)Cga>Tga p.R288* UPB1_uc003aae.3_Nonsense_Mutation_p.R220*|UPB1_uc021wnh.1_Non-coding_Transcript NM_016327 NP_057411 Q9UBR1 BUP1_HUMAN Homo sapiens ureidopropionase, beta (UPB1), mRNA. 288 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) CGCCATCAATCGAGTGGGCAC 0.602000 11 4 0 0 0.00024832 0 0 KIF13A 63971 broad.mit.edu 37 6 17834269 17834269 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:17834269C>T uc003ncg.4 - 11 1349 c.1189G>A c.(1189-1191)Gaa>Aaa p.E397K KIF13A_uc003ncf.3_Missense_Mutation_p.E397K|KIF13A_uc003nch.4_Missense_Mutation_p.E397K|KIF13A_uc003nci.4_Missense_Mutation_p.E397K|KIF13A_uc003ncj.3_Missense_Mutation_p.E73K NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA. 397 Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding p.L396L(1) breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TCAGACTCTTCGAGCTTCTCC 0.383000 26 7 0 0 0.000274275 0 0 OBSCN 84033 broad.mit.edu 37 1 228559341 228559341 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:228559341C>T uc009xez.1 + 93 20906 c.20862C>T c.(20860-20862)acC>acT p.T6954T OBSCN_uc001hsr.1_Silent_p.T1583T NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 6954 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) CCTCTGGCACCCACTTGGCCC 0.701000 10 7 0 0 0.000157383 0 0 WNK3 65267 broad.mit.edu 37 X 54263821 54263821 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:54263821G>A uc004dtc.2 - 19 4617 c.4178C>T c.(4177-4179)tCg>tTg p.S1393L WNK3_uc004dtd.2_Missense_Mutation_p.S1346L NM_020922 NP_065973 Q9BYP7 WNK3_HUMAN Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA. 1346 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity p.S1393*(2) autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 ATAAGAAAACGAAGTTTTTGG 0.378000 8 50 0 0 0.000781405 0 0 GPRC5C 55890 broad.mit.edu 37 17 72436352 72436352 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:72436352G>A uc002jkp.3 + 1 1083 c.572G>A c.(571-573)cGg>cAg p.R191Q GPRC5C_uc002jkq.3_Intron|GPRC5C_uc002jkr.3_Missense_Mutation_p.R158Q|GPRC5C_uc002jkt.3_Missense_Mutation_p.R146Q|GPRC5C_uc002jku.3_5'Flank NM_022036 NP_071319 Q9NQ84 GPC5C_HUMAN Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA. 146 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 TTCCTGGCCCGGAAGAACCAC 0.587000 59 38 0 0 0.000437636 0 0 MUC20 200958 broad.mit.edu 37 3 195453370 195453370 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:195453370G>A uc010hzo.3 + 2 1509 c.1383G>A c.(1381-1383)gcG>gcA p.A461A MUC20_uc010hzp.3_Silent_p.A426A|MUC20_uc011bte.1_Non-coding_Transcript NM_152673 NP_689886 Q8N307 MUC20_HUMAN Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA. 632 Involved in oligomerization. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane p.A632A(1) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) CAACCTCAGCGAAGACCACGA 0.612000 92 12 0 0 0.000978159 0 0 NLRP12 91662 broad.mit.edu 37 19 54314203 54314204 + Missense_Mutation DNP CC AT AT TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:54314203_54314204CC>AT uc002qcj.4 - 2 929_930 c.709_710GG>AT c.(709-711)ggg>ATg p.G237M NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.G237M|NLRP12_uc002qci.4_Missense_Mutation_p.G237M|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.G237M NM_144687 NP_653288 P59046 NAL12_HUMAN Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA. 237 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GAAGAGCTTCCCGTCCGCCCAG 0.584000 28 12 0 0 6.4e-05 0 0 EVI5L 115704 broad.mit.edu 37 19 7913942 7913942 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:7913942C>T uc010xjz.2 + 2 510 c.463C>T c.(463-465)Cgc>Tgc p.R155C EVI5L_uc002min.3_Missense_Mutation_p.R155C|EVI5L_uc002mio.1_5'Flank NM_001159944 NP_001153416 Q96CN4 EVI5L_HUMAN Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA. 155 Rab-GAP TBC. intracellular Rab GTPase activator activity|protein binding breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 12 GAAGCTGATCCGCAGGGACAT 0.617000 7 7 0 0 8.12818e-05 0 0 ENG 2022 broad.mit.edu 37 9 130587562 130587562 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:130587562C>T uc004bsj.4 - 5 1177 c.764G>A c.(763-765)gGt>gAt p.G255D ENG_uc011mam.2_Missense_Mutation_p.G66D|ENG_uc004bsk.4_Missense_Mutation_p.G255D NM_001114753 NP_001108225 P17813 EGLN_HUMAN Homo sapiens endoglin (ENG), transcript variant 1, mRNA. 255 BMP signaling pathway|artery morphogenesis|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 GTAGGGGGGACCCTGCAGGAT 0.632000 Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 14 15 0 0 0.000566183 0 0 TTC37 9652 broad.mit.edu 37 5 94842677 94842678 + Missense_Mutation DNP GT AA AA TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:94842677_94842678GT>AA uc003klb.3 - 29 3349_3350 c.3052_3053AC>TT c.(3052-3054)act>TTt p.T1018F NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA. 1018 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 AACATTGTAAGTATCTTGGTCT 0.312000 31 37 0 0 6.4e-05 0 0 IQCA1 79781 broad.mit.edu 37 2 237233337 237233337 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:237233337C>T uc002vwb.2 - 18 2521 c.2487G>A c.(2485-2487)agG>agA p.R829R IQCA1_uc002vvz.1_Silent_p.R821R|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Silent_p.R780R NM_024726 NP_079002 Q86XH1 IQCA1_HUMAN Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA. 821 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 tcttttatttccttttccctt 0.428000 15 4 0 0 0.00024832 0 0 IRX1 79192 broad.mit.edu 37 5 3599467 3599467 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:3599467C>T uc003jde.3 + 1 457 c.405C>T c.(403-405)acC>acT p.T135T NM_024337 NP_077313 P78414 IRX1_HUMAN Homo sapiens iroquois homeobox 1 (IRX1), mRNA. 135 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 AGAACGCCACCCGCGAGAGCA 0.652000 24 16 0 0 0.000566183 0 0 KCNC4 3749 broad.mit.edu 37 1 110765757 110765757 + Missense_Mutation SNP A G G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:110765757A>G uc009wfr.3 + 1 1636 c.850A>G c.(850-852)Atc>Gtc p.I284V KCNC4_uc001dzf.3_Missense_Mutation_p.I284V|KCNC4_uc001dzh.3_Missense_Mutation_p.I284V|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Missense_Mutation_p.I284V NM_001039574 NP_001034663 Q03721 KCNC4_HUMAN Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA. 284 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) CCTGACCTACATCGAGGGCGT 0.567000 36 35 0 0 0.000589545 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356631 37356631 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:37356631C>T uc002xjc.3 + 1 1190 c.927C>T c.(925-927)tcC>tcT p.S309S NM_080552 NP_542119 Q9H598 VIAAT_HUMAN Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA. 309 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) TCCCCATCTCCATTGGCATCA 0.537000 45 18 0 0 0.00121646 0 0 BCL6B 255877 broad.mit.edu 37 17 6929847 6929847 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:6929847C>T uc010clt.1 + 5 1023 c.961C>T c.(961-963)Cct>Tct p.P321S BCL6B_uc002geg.2_Missense_Mutation_p.P321S NM_181844 NP_862827 Q8N143 BCL6B_HUMAN Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA. 321 nucleus zinc ion binding skin(1) 1 CTCCTTGGTTCCTGGGGACGA 0.567000 80 40 0 0 0.000374591 0 0 abParts 0 broad.mit.edu 37 14 106833236 106833236 + RNA SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:106833236C>T uc021ser.1 - 508 c.14814G>A abParts_uc001ysx.1_Non-coding_Transcript Parts of antibodies, mostly variable regions. CTGTGTACTTCGCACAGTAAT 0.532000 17 4 0 0 0.000602214 0 0 MECOM 2122 broad.mit.edu 37 3 169099040 169099040 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:169099040C>T uc011bpj.1 - 1 713 c.310G>A c.(310-312)Gaa>Aaa p.E104K MECOM_uc003ffl.2_Missense_Mutation_p.E76K|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.E104K|MECOM_uc011bpl.1_Missense_Mutation_p.E104K NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 104 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CCAAACTTTTCACCTACTTCG 0.433000 56 22 0 0 0.000375601 0 0 ANK2 287 broad.mit.edu 37 4 114275856 114275856 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:114275856C>T uc003ibe.4 + 37 6182 c.6082C>T c.(6082-6084)Cgg>Tgg p.R2028W ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.R2043W NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 1995 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.R2028W(2) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGGTAAAGTTCGGGTAGAAAA 0.463000 47 16 0 0 0.000308642 0 0 SNX29 92017 broad.mit.edu 37 16 12618696 12618696 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:12618696C>T uc002dby.4 + 19 2378 c.1161C>T c.(1159-1161)ttC>ttT p.F387F NM_032167 NP_115543 Q8TEQ0 SNX29_HUMAN Homo sapiens sorting nexin 29 (SNX29), mRNA. 387 PX. cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 TGCCCTTCTTCGTGTAAGTAC 0.572000 75 17 0 0 0.000422831 0 0 LLGL1 3996 broad.mit.edu 37 17 18140988 18140988 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:18140988C>T uc002gsp.3 + 13 1866 c.1805C>T c.(1804-1806)aCc>aTc p.T602I NM_004140 NP_004131 Q15334 L2GL1_HUMAN Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA. 602 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) GCTGCTGTAACCGCTGTCACA 0.672000 22 12 0 0 0.000978159 0 0 GPR158 57512 broad.mit.edu 37 10 25684866 25684866 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:25684866C>T uc001isj.3 + 2 1095 c.1035C>T c.(1033-1035)ttC>ttT p.F345F NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 345 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GCCTAGGATTCGTTCTTGGAG 0.413000 22 9 0 0 0.000442599 0 0 CACNA1H 8912 broad.mit.edu 37 16 1257422 1257422 + Nonsense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:1257422C>T uc002cks.3 + 13 3303 c.3055C>T c.(3055-3057)Cag>Tag p.Q1019* CACNA1H_uc002ckt.3_Nonsense_Mutation_p.Q1019*|CACNA1H_uc002cku.3_5'Flank|CACNA1H_uc010brj.3_5'Flank|CACNA1H_uc002ckv.3_5'Flank NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 1019 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GGAGGGCTTCCAGGCGGAGGT 0.662000 25 6 0 0 8.12818e-05 0 0 EPHA6 285220 broad.mit.edu 37 3 96706372 96706372 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:96706372G>A uc010how.1 + 2 692 c.649G>A c.(649-651)Gaa>Aaa p.E217K EPHA6_uc003drp.1_Missense_Mutation_p.E217K NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 122 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GACTTGCAAAGAAACATTTAA 0.398000 73 24 0 0 0.000295444 0 0 DEFB115 245929 broad.mit.edu 37 20 29847269 29847269 + Nonsense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:29847269G>A uc002wvp.1 + 1 101 c.101G>A c.(100-102)tGg>tAg p.W34* NM_001037730 NP_001032819 Q30KQ5 DB115_HUMAN Homo sapiens defensin, beta 115 (DEFB115), mRNA. 34 defense response to bacterium extracellular region kidney(1)|lung(3)|ovary(1)|skin(1) 6 Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347) ATAGATGGATGGATCAGAAGG 0.313000 56 11 0 0 0.000151284 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21229492 21229492 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:21229492C>T uc010sil.2 + 14 2102 c.2037C>T c.(2035-2037)tcC>tcT p.S679S SLCO1B3_uc010sim.2_Silent_p.S618S|SLCO1B3_uc010sin.2_Silent_p.S571S Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 638 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TATATAATTCCACATATTTGG 0.323000 115 127 0 0 0.000781405 0 0 SCNN1G 6340 broad.mit.edu 37 16 23226713 23226713 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:23226713C>T uc002dlm.1 + 12 2012 c.1873C>T c.(1873-1875)Ccc>Tcc p.P625S NM_001039 NP_001030 P51170 SCNNG_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA. 625 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane WW domain binding|ligand-gated sodium channel activity NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) CACACCGCCCCCCAAATACAA 0.552000 52 15 0 0 0.000422831 0 0 EPHA3 2042 broad.mit.edu 37 3 89390106 89390106 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:89390106G>A uc003dqy.3 + 3 1080 c.855G>A c.(853-855)atG>atA p.M285I EPHA3_uc003dqx.1_Missense_Mutation_p.M285I|EPHA3_uc021xbf.1_Missense_Mutation_p.M285I NM_005233 NP_005224 P29320 EPHA3_HUMAN Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA. 285 Cys-rich. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) ATGGTAATATGAAGTGTGCTA 0.393000 TSP Lung(6;0.00050) 83 22 0 0 0.00047179 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44506200 44506200 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:44506200C>T uc002xqd.3 + 1 1248 c.1003C>T c.(1003-1005)Ctg>Ttg p.L335L ZSWIM3_uc010zxg.2_Silent_p.L329L NM_080752 NP_542790 Q96MP5 ZSWM3_HUMAN Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA. 335 zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) GAAGGAAGCCCTGCGGGAGGC 0.517000 112 32 0 0 0.000692331 0 0 FAM194A 131831 broad.mit.edu 37 3 150403780 150403780 + Silent SNP C T T rs145250976 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:150403780C>T uc003eyg.3 - 4 696 c.639G>A c.(637-639)tcG>tcA p.S213S FAM194A_uc003eyh.3_Silent_p.S67S NM_152394 NP_689607 Q7L0X2 F194A_HUMAN Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA. 213 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TATTTAGTTTCGACTCTTCTG 0.308000 63 14 0 0 0.000566183 0 0 SERPINA10 51156 broad.mit.edu 37 14 94754765 94754765 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:94754765G>A uc001yct.3 - 2 1316 c.850C>T c.(850-852)Cgt>Tgt p.R284C SERPINA10_uc001ycu.4_Missense_Mutation_p.R284C NM_016186 NP_057270 Q9UK55 ZPI_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA. 284 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.R284C(2) haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) ACATGACAACGAAAATTCTTG 0.507000 41 18 0 0 0.00074312 0 0 SUSD4 55061 broad.mit.edu 37 1 223396907 223396907 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:223396907G>A uc001hnx.3 - 6 1762 c.1128C>T c.(1126-1128)ctC>ctT p.L376L SUSD4_uc001hny.4_Silent_p.L376L|SUSD4_uc010puw.2_Silent_p.L216L NM_017982 NP_060452 Q5VX71 SUSD4_HUMAN Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA. 376 integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) CATAGGACGGGAGCATGACGG 0.617000 9 8 0 0 0.000157383 0 0 PANK4 55229 broad.mit.edu 37 1 2445459 2445459 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:2445459G>A uc001ajm.1 - 11 1566 c.1557C>T c.(1555-1557)ttC>ttT p.F519F PANK4_uc010nza.1_Silent_p.F480F NM_018216 NP_060686 Q9NVE7 PANK4_HUMAN Homo sapiens pantothenate kinase 4 (PANK4), mRNA. 519 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 23 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) AGGGATCCGGGAAGTTGAACT 0.652000 55 59 0 0 0.000781405 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24931540 24931540 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:24931540G>A uc002dnb.3 - 19 2650 c.2557C>T c.(2557-2559)Cct>Tct p.P853S ARHGAP17_uc002dmw.3_3'UTR|ARHGAP17_uc002dmy.3_Missense_Mutation_p.P298S|ARHGAP17_uc002dmz.3_Missense_Mutation_p.P377S|ARHGAP17_uc002dna.3_Missense_Mutation_p.P580S|ARHGAP17_uc002dnc.3_Missense_Mutation_p.P775S|ARHGAP17_uc010vcf.2_Missense_Mutation_p.P596S|ARHGAP17_uc002dnd.1_Non-coding_Transcript NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA. 853 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) TGCATTTCAGGAAAGATGCTG 0.527000 85 24 0 0 0.00047179 0 0 ANKRD5 63926 broad.mit.edu 37 20 10030179 10030179 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:10030179C>T uc002wno.3 + 6 1355 c.962C>T c.(961-963)cCa>cTa p.P321L LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.P321L|ANKRD5_uc010gbz.3_Missense_Mutation_p.P132L NM_022096 NP_942093 Q9NU02 ANKR5_HUMAN Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA. 321 calcium ion binding p.P321S(1) breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 37 GCCAAAAATCCAAATCCACTG 0.527000 40 36 0 0 0.00058488 0 0 C20orf26 26074 broad.mit.edu 37 20 20056175 20056175 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:20056175C>T uc002wru.3 + 5 596 c.482C>T c.(481-483)cCg>cTg p.P161L C20orf26_uc010gcw.2_Missense_Mutation_p.P115L|C20orf26_uc010zse.2_Missense_Mutation_p.P161L|C20orf26_uc010zsf.1_Missense_Mutation_p.P161L NM_015585 NP_056400 Q8NHU2 CT026_HUMAN Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA. 161 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) GGGAACATCCCGTGTCTGACG 0.428000 115 60 0 0 0.000781405 0 0 UNC79 57578 broad.mit.edu 37 14 94041526 94041526 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:94041526G>A uc001ybv.1 + 13 1745 c.1662G>A c.(1660-1662)ggG>ggA p.G554G UNC79_uc001ybs.1_Silent_p.G554G NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 731 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 AACTGGCAGGGAACCTTGCAT 0.383000 25 17 0 0 0.00121646 0 0 LOC646214 646214 broad.mit.edu 37 15 21936481 21936481 + RNA SNP C A A rs61999618 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:21936481C>A uc010tzj.1 - 0 c.4259G>T Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA. TTTAAACCCCCAAAAGAGTAA 0.333000 87 9 3.09899e-07 2.08326e-06 0.000274275 1 0 RIMS2 9699 broad.mit.edu 37 8 104778587 104778587 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:104778587G>A uc003ylp.3 + 2 659 c.520G>A c.(520-522)Gag>Aag p.E174K NM_001100117 NP_001093587 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA. 205 RabBD. intracellular protein transport cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AAGAAATGAGGAGGCACCTCA 0.443000 HNSCC(12;0.0054) 48 6 0 0 8.12818e-05 0 0 IGSF22 283284 broad.mit.edu 37 11 18741335 18741335 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:18741335C>T uc009yht.2 - 6 814 c.624G>A c.(622-624)atG>atA p.M208I IGSF22_uc001mpa.2_Non-coding_Transcript NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA. 208 Lys-rich. NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 AACCATACTCCATGCACACCT 0.507000 94 71 0 0 0.000781405 0 0 OR4N5 390437 broad.mit.edu 37 14 20612558 20612558 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:20612558C>T uc010tla.2 + 0 664 c.664C>T c.(664-666)Ctc>Ttc p.L222F NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA. 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TGCAGTCATCCTCTGTCGTAT 0.498000 47 23 0 0 0.000229342 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558909 113558909 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:113558909G>A uc010ljy.1 - 0 174 c.143C>T c.(142-144)tCt>tTt p.S48F NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 48 glycogen metabolic process integral to membrane p.D47Y(1) NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 GTCTTCAGAAGAATCAGAACC 0.373000 69 52 0 0 0.000781405 0 0 ITFG3 83986 broad.mit.edu 37 16 314837 314837 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:314837C>T uc002cgf.3 + 12 1670 c.1475C>T c.(1474-1476)gCc>gTc p.A492V LUC7L_uc021szo.1_Intron|ITFG3_uc002cgg.2_Missense_Mutation_p.A492V|ITFG3_uc010uud.1_Intron|ITFG3_uc002cgh.3_Missense_Mutation_p.A492V NM_032039 NP_114428 Q9H0X4 ITFG3_HUMAN Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA. 492 integral to membrane p.A492T(1) central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) AGCCGCCACGCCGCCTACATC 0.672000 19 8 0 0 0.000442599 0 0 ZNF286B 729288 broad.mit.edu 37 17 18565293 18565293 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:18565293G>A uc010vyd.1 - 4 1777 c.1526C>T c.(1525-1527)tCt>tTt p.S509F NM_001145045 NP_001138517 P0CG31 Z286B_HUMAN Homo sapiens zinc finger protein 286B (ZNF286B), mRNA. 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(1) 2 TCTGATGAGAGATGAACTGCA 0.353000 43 11 0 0 0.000308642 0 0 BCDIN3D 144233 broad.mit.edu 37 12 50232547 50232547 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:50232547G>A uc001rvh.3 - 1 528 c.486C>T c.(484-486)ttC>ttT p.F162F LOC100286844_uc010smm.2_Intron|LOC100286844_uc001rvg.3_Non-coding_Transcript|LOC100286844_uc010smn.2_Non-coding_Transcript NM_181708 NP_859059 Q7Z5W3 BN3D2_HUMAN Homo sapiens BCDIN3 domain containing (BCDIN3D), mRNA. 162 Bin3-type SAM. methyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1) 9 TTGACATGCAGAAGCCAATGT 0.468000 OREG0021805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 13 0 0 0.000219431 0 0 CAMK1D 57118 broad.mit.edu 37 10 12803030 12803030 + Missense_Mutation SNP T A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:12803030T>A uc001ilo.3 + 3 618 c.383T>A c.(382-384)gTc>gAc p.V128D CAMK1D_uc001iln.3_Missense_Mutation_p.V128D NM_153498 NP_705718 Q8IU85 KCC1D_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA. 128 Protein kinase. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) ATCCGCCAAGTCTTGGACGCC 0.552000 147 6 0 0 0.00116845 0 0 TTN 7273 broad.mit.edu 37 2 179422801 179422801 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:179422801C>T uc021vsy.1 - 276 79801 c.79576G>A c.(79576-79578)Gaa>Aaa p.E26526K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E20221K|TTN_uc021vta.1_Missense_Mutation_p.E20154K|TTN_uc021vtb.1_Missense_Mutation_p.E20029K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 27453 Fibronectin type-III 93. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCAGTAATTTCGGTATTAAAT 0.428000 95 19 0 0 0.00152264 0 0 PKD1L2 114780 broad.mit.edu 37 16 81183453 81183453 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:81183453C>T uc002fgh.1 - 27 4595 c.4595G>A c.(4594-4596)gGa>gAa p.G1532E PKD1L2_uc002fgg.1_Non-coding_Transcript NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 1532 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CCAGATGTGTCCATCCTGGAA 0.592000 24 6 0 0 8.12818e-05 0 0 ZNF394 84124 broad.mit.edu 37 7 99091810 99091810 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:99091810G>A uc003uqs.3 - 2 1189 c.1028C>T c.(1027-1029)tCc>tTc p.S343F ZNF394_uc003uqt.3_Missense_Mutation_p.S136F NM_032164 NP_115540 Q53GI3 ZN394_HUMAN Homo sapiens zinc finger protein 394 (ZNF394), mRNA. 343 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) AAAAAGGCTGGAATGATGGAA 0.473000 73 64 0 0 0.000781405 0 0 CNTD1 124817 broad.mit.edu 37 17 40958834 40958834 + Missense_Mutation SNP A C C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:40958834A>C uc002ibm.4 + 4 955 c.723A>C c.(721-723)caA>caC p.Q241H CNTD1_uc010wha.2_Missense_Mutation_p.Q158H NM_173478 NP_775749 Q8N815 CNTD1_HUMAN Homo sapiens cyclin N-terminal domain containing 1 (CNTD1), mRNA. 241 central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0749) GTCAGCTGCAAGGGTAAGACA 0.517000 11 10 0 0 0.000442599 0 0 PPARA 5465 broad.mit.edu 37 22 46614165 46614165 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr22:46614165C>T uc003bhb.1 + 3 498 c.375C>T c.(373-375)ttC>ttT p.F125F PPARA_uc003bgw.1_Silent_p.F125F|PPARA_uc003bgx.1_Silent_p.F125F|PPARA_uc010hab.1_Silent_p.F125F|PPARA_uc003bha.3_Silent_p.F125F|PPARA_uc010hac.1_5'UTR NM_005036 NP_005027 Q07869 PPARA_HUMAN Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA. 125 fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) CACAGGGCTTCTTTCGGCGAA 0.448000 12 14 0 0 0.000219431 0 0 SI 6476 broad.mit.edu 37 3 164733005 164733006 + Missense_Mutation DNP CC TT TT TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:164733005_164733006CC>TT uc003fei.3 - 32 3967_3968 c.3904_3905GG>AA c.(3904-3906)gga>AAa p.G1302K NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 1302 Sucrase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGTTTCATTTCCTGAAATTGCT 0.347000 HNSCC(35;0.089) 20 6 0 0 6.4e-05 0 0 C12orf12 196477 broad.mit.edu 37 12 91347568 91347568 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:91347568C>T uc001tbj.3 - 0 1386 c.952G>A c.(952-954)Gag>Aag p.E318K NM_152638 NP_689851 Q8TC90 CL012_HUMAN Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA. 318 Glu-rich. NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 27 tcttcttcctcctcatcttcg 0.547000 20 7 0 0 8.12818e-05 0 0 MYH7B 57644 broad.mit.edu 37 20 33586421 33586421 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:33586421G>A uc002xbi.2 + 33 4425 c.4108G>A c.(4108-4110)Gag>Aag p.E1370K NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA. 1328 membrane|myosin filament ATP binding|actin binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) CCAGCTAGAGGAGGAAAGCAA 0.632000 41 10 0 0 0.000673444 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50464043 50464043 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:50464043C>T uc010ybh.2 - 1 317 c.226G>A c.(226-228)Gga>Aga p.G76R SIGLEC11_uc010ybi.2_Missense_Mutation_p.G76R NM_052884 NP_443116 Q96RL6 SIG11_HUMAN Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA. 76 Ig-like V-type. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CTGGTCCGTCCTTTGAACCAG 0.607000 24 12 0 0 0.00136819 0 0 ATP10B 23120 broad.mit.edu 37 5 160039886 160039886 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:160039886C>T uc003lym.1 - 17 3547 c.2700G>A c.(2698-2700)acG>acA p.T900T ATP10B_uc010jit.1_Silent_p.T217T|ATP10B_uc003lyn.3_Silent_p.T458T NM_025153 NP_079429 O94823 AT10B_HUMAN Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA. 900 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAGTGGCAATCGTATCTGGAA 0.507000 11 20 0 0 0.000229342 0 0 CHIT1 1118 broad.mit.edu 37 1 203192347 203192347 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:203192347C>T uc001gzn.2 - 5 617 c.521G>A c.(520-522)gGg>gAg p.G174E CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_5'UTR|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Missense_Mutation_p.G165E NM_003465 NP_003456 Q13231 CHIT1_HUMAN Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA. 174 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 GCGTTCCTTCCCTGAGGTCTG 0.602000 76 35 0 0 0.000814825 0 0 GHRHR 2692 broad.mit.edu 37 7 31011632 31011632 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:31011632C>T uc003tbx.3 + 5 567 c.519C>T c.(517-519)atC>atT p.I173I GHRHR_uc003tby.3_Silent_p.I109I|GHRHR_uc003tbz.3_5'UTR NM_000823 NP_000814 Q02643 GHRHR_HUMAN Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA. 173 activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010) CCACTTTTATCCTCAAGGCGG 0.567000 43 38 0 0 0.00148497 0 0 SFTPD 6441 broad.mit.edu 37 10 81697824 81697824 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:81697824G>A uc001kbh.3 - 7 955 c.912C>T c.(910-912)gtC>gtT p.V304V NM_003019 NP_003010 P35247 SFTPD_HUMAN Homo sapiens surfactant protein D (SFTPD), mRNA. 304 C-type lectin. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) TCTTAGCTACGACCAGCTGTT 0.557000 66 27 0 0 0.000878237 0 0 CRISPLD2 83716 broad.mit.edu 37 16 84902464 84902464 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:84902464C>T uc010voh.1 + 7 1088 c.861C>T c.(859-861)gtC>gtT p.V287V CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fim.2_Silent_p.V287V|CRISPLD2_uc002fin.4_Silent_p.V287V NM_031476 NP_113664 Q9H0B8 CRLD2_HUMAN Homo sapiens cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2), mRNA. 287 LCCL 1. extracellular region|transport vesicle endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1) 18 TAGCCCAAGTCGTCAGATGTG 0.547000 39 6 0 0 8.12818e-05 0 0 CACNA1S 779 broad.mit.edu 37 1 201061138 201061138 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:201061138C>T uc001gvv.3 - 3 730 c.503G>A c.(502-504)cGa>cAa p.R168Q NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 168 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCTGAGCACTCGGAAGGCTCT 0.602000 34 10 0 0 0.000442599 0 0 DBC1 1620 broad.mit.edu 37 9 121976304 121976304 + Missense_Mutation SNP T A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:121976304T>A uc004bkc.2 - 5 1271 c.815A>T c.(814-816)gAg>gTg p.E272V DBC1_uc004bkd.2_Missense_Mutation_p.E272V NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 272 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CTGCGGAAACTCCTCGGCACA 0.557000 78 10 0 0 0.000673444 0 0 DEFB116 245930 broad.mit.edu 37 20 29891192 29891192 + Missense_Mutation SNP T A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:29891192T>A uc010ztm.2 - 1 132 c.132A>T c.(130-132)caA>caT p.Q44H NM_001037731 NP_001032820 Q30KQ4 DB116_HUMAN Homo sapiens defensin, beta 116 (DEFB116), mRNA. 44 defense response to bacterium extracellular region kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TGCACATGCCTTGGTAAAGCT 0.458000 270 42 0 0 0.000437636 0 0 LIPE 3991 broad.mit.edu 37 19 42931222 42931223 + Missense_Mutation DNP GG AA AA TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:42931222_42931223GG>AA uc002otr.3 - 0 356_357 c.79_80CC>TT c.(79-81)cct>TTt p.P27F AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank NM_005357 NP_005348 Q05469 LIPS_HUMAN Homo sapiens lipase, hormone-sensitive (LIPE), mRNA. 27 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) TTCTGGCCCAGGCTCTAGCGGG 0.535000 38 29 0 0 6.4e-05 0 0 PIGU 128869 broad.mit.edu 37 20 33162970 33162970 + Missense_Mutation SNP A G G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:33162970A>G uc002xas.3 - 10 1332 c.1132T>C c.(1132-1134)Tat>Cat p.Y378H PIGU_uc010zul.2_Missense_Mutation_p.Y378H|PIGU_uc002xat.3_Missense_Mutation_p.Y358H NM_080476 NP_536724 Q9H490 PIGU_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class U (PIGU), mRNA. 378 C-terminal protein lipidation|attachment of GPI anchor to protein|regulation of JAK-STAT cascade GPI-anchor transamidase complex|plasma membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 9 CTTCCTGCATAAATCCAGAGG 0.507000 68 33 0 0 0.000339439 0 0 RBM41 55285 broad.mit.edu 37 X 106312573 106312573 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:106312573G>A uc004emz.3 - 5 1041 c.987C>T c.(985-987)ttC>ttT p.F329F RBM41_uc004emy.2_Silent_p.F329F NM_018301 NP_060771 Q96IZ5 RBM41_HUMAN Homo sapiens RNA binding motif protein 41 (RBM41), transcript variant 1, mRNA. 329 RRM. RNA binding|nucleotide binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 13 GGAACCGAGCGAACAATGACA 0.418000 35 70 0 0 0.000781405 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44805846 44805846 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:44805846C>T uc003tlr.3 + 16 2449 c.2326C>T c.(2326-2328)Ccg>Tcg p.P776S ZMIZ2_uc003tlq.3_Missense_Mutation_p.P718S|ZMIZ2_uc003tls.3_Missense_Mutation_p.P750S|ZMIZ2_uc003tlt.3_Missense_Mutation_p.P399S|ZMIZ2_uc010kyj.3_Missense_Mutation_p.P298S|ZMIZ2_uc003tlu.3_Missense_Mutation_p.P57S|ZMIZ2_uc010kyk.2_5'Flank NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA. 776 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TGAGTTCACCCCGGGACCACC 0.622000 34 22 0 0 0.00152264 0 0 APCS 325 broad.mit.edu 37 1 159558215 159558215 + Missense_Mutation SNP G T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:159558215G>T uc001ftv.3 + 1 485 c.389G>T c.(388-390)gGg>gTg p.G130V NM_001639 NP_001630 P02743 SAMP_HUMAN Homo sapiens amyloid P component, serum (APCS), mRNA. 130 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) TGGATCAATGGGACACCTTTG 0.483000 62 10 6.40141e-05 0.00042763 0.000978159 1 0 CNOT1 23019 broad.mit.edu 37 16 58577803 58577803 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:58577803G>A uc002env.3 - 30 4435 c.4142C>T c.(4141-4143)cCc>cTc p.P1381L CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.P1376L|CNOT1_uc002enx.3_Missense_Mutation_p.P1381L|CNOT1_uc010vik.2_Missense_Mutation_p.P338L NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA. 1381 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CTGAAACAAGGGAATCTGGGG 0.458000 19 25 0 0 0.00106085 0 0 ACTL9 284382 broad.mit.edu 37 19 8807924 8807924 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:8807924C>T uc002mkl.2 - 0 1249 c.1128G>A c.(1126-1128)agG>agA p.R376R NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN Homo sapiens actin-like 9 (ACTL9), mRNA. 376 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 CGGAGAAATTCCTGGTGGGCT 0.667000 13 6 0 0 0.000673444 0 0 SLC24A3 57419 broad.mit.edu 37 20 19665880 19665880 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:19665880G>A uc002wrl.3 + 11 1396 c.1199G>A c.(1198-1200)aGg>aAg p.R400K NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA. 400 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 GGGACACGGAGGGACGATGTT 0.537000 44 12 0 0 0.000978159 0 0 KRT24 192666 broad.mit.edu 37 17 38857515 38857515 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:38857515C>T uc002hvd.3 - 2 789 c.732G>A c.(730-732)gtG>gtA p.V244V NM_019016 NP_061889 Q2M2I5 K1C24_HUMAN Homo sapiens keratin 24 (KRT24), mRNA. 244 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity p.S243G(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) TGTCAGCCTCCACGCTCTGCC 0.542000 13 14 0 0 0.000151284 0 0 HSD17B12 51144 broad.mit.edu 37 11 43819886 43819886 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:43819886G>A uc001mxq.4 + 3 535 c.300G>A c.(298-300)gtG>gtA p.V100V NM_016142 NP_057226 Q53GQ0 DHB12_HUMAN Homo sapiens hydroxysteroid (17-beta) dehydrogenase 12 (HSD17B12), mRNA. 100 long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity endometrium(2)|large_intestine(4)|lung(4) 10 AATTCAAAGTGGAGACAAGAA 0.363000 37 33 0 0 0.000339439 0 0 TERT 7015 broad.mit.edu 37 5 1293435 1293435 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:1293435C>T uc003jcb.1 - 1 1624 c.1566G>A c.(1564-1566)agG>agA p.R522R TERT_uc003jcc.1_Silent_p.R522R|TERT_uc003jca.1_Silent_p.R522R|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Intron NM_198253 NP_937983 O14746 TERT_HUMAN Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. 522 RNA-interacting domain 2.|Required for oligomerization. R -> K (associated with acute myeloid leukemia). DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase PML body|cytoplasm|nucleolus|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CACCTGGGCTCCTGCGCAGCC 0.642000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 44 11 0 0 0.000978159 0 0 FTSJD2 23070 broad.mit.edu 37 6 37420894 37420894 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:37420894C>T uc003ons.3 + 6 934 c.681C>T c.(679-681)atC>atT p.I227I FTSJD2_uc010jwu.2_Intron NM_015050 NP_055865 Q8N1G2 MTR1_HUMAN Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA. 227 mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2) 31 ATGAGATGATCCGAGGAGTCT 0.507000 75 61 0 0 0.000781405 0 0 MORN1 79906 broad.mit.edu 37 1 2268180 2268180 + Silent SNP G A A rs150260968 byFrequency TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:2268180G>A uc001ajb.1 - 10 1167 c.1146C>T c.(1144-1146)ttC>ttT p.F382F MORN1_uc009vld.3_Silent_p.F358F NM_024848 NP_079124 Q5T089 MORN1_HUMAN Homo sapiens MORN repeat containing 1 (MORN1), mRNA. 382 breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2) 9 all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212) CCAGGAACAGGAAGGGGTGGT 0.682000 10 13 0 0 0.00136819 0 0 DIP2C 22982 broad.mit.edu 37 10 409149 409149 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:409149G>A uc001ifp.3 - 20 2670 c.2580C>T c.(2578-2580)agC>agT p.S860S DIP2C_uc009xhi.1_Silent_p.S246S|DIP2C_uc010pzz.1_Silent_p.S181S NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA. 860 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GCAGCACACGGCTCATCCACT 0.587000 9 4 0 0 0.000602214 0 0 ACAN 176 broad.mit.edu 37 15 89400699 89400699 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:89400699G>A uc010upo.1 + 11 5257 c.4883G>A c.(4882-4884)gGa>gAa p.G1628E ACAN_uc010upp.1_Missense_Mutation_p.G1628E|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 1628 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) CTTCCCTCTGGATTTAGTGGT 0.532000 144 25 0 0 0.00106085 0 0 SHANK3 85358 broad.mit.edu 37 22 51160649 51160649 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr22:51160649C>T uc003bne.1 + 21 4436 c.4436C>T c.(4435-4437)cCt>cTt p.P1479L SHANK3_uc003bnf.1_Missense_Mutation_p.P926L NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA. 1479 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) CCTGCCCGCCCTCGCTACCTC 0.682000 12 13 0 0 0.000151284 0 0 PLCB4 5332 broad.mit.edu 37 20 9288477 9288477 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:9288477G>A uc021wam.1 + 0 31 c.16G>A c.(16-18)Gaa>Aaa p.E6K PLCB4_uc010gbw.1_Missense_Mutation_p.E6K|PLCB4_uc010gbx.3_Missense_Mutation_p.E6K|PLCB4_uc021wal.1_Missense_Mutation_p.E6K NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 6 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CAAACCTTATGAATTTAACTG 0.333000 31 10 0 0 0.000978159 0 0 MST1P2 11209 broad.mit.edu 37 1 16974277 16974277 + RNA SNP A C C rs151151026 by1000genomes TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:16974277A>C uc009vow.2 + 4 c.1087A>C MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Splice_Site|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Splice_Site|MST1P2_uc009vox.3_Splice_Site|MST1P2_uc001azm.4_Splice_Site Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. GGTCCATCTAAGGGTCCGAGG 0.657000 12 3 0 0 0.000602214 0 0 CD1B 910 broad.mit.edu 37 1 158299806 158299806 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:158299806G>A uc001frx.3 - 2 551 c.443C>T c.(442-444)tCa>tTa p.S148L CD1B_uc001frw.3_Missense_Mutation_p.S148L NM_001764 NP_001755 P29016 CD1B_HUMAN Homo sapiens CD1b molecule (CD1B), mRNA. 148 antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) AGGCACACATGAAGCATTCTT 0.478000 141 64 0 0 0.000781405 0 0 OR1A1 8383 broad.mit.edu 37 17 3119386 3119386 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:3119386C>T uc010vrc.2 + 0 472 c.472C>T c.(472-474)Ccc>Tcc p.P158S NM_014565 NP_055380 Q9P1Q5 OR1A1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA. 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 CAATGCCCTCCCCCACACTCT 0.512000 46 22 0 0 0.000229342 0 0 CSAD 51380 broad.mit.edu 37 12 53552462 53552463 + Missense_Mutation DNP GG AA AA TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:53552462_53552463GG>AA uc001sby.3 - 15 1440_1441 c.1314_1315CC>TT c.(1312-1317)gccccc>gcTTcc p.P439S CSAD_uc021qyc.1_Missense_Mutation_p.P206S|CSAD_uc001sbw.3_Missense_Mutation_p.P292S|CSAD_uc009zmt.3_Missense_Mutation_p.P221S|CSAD_uc010snx.2_Missense_Mutation_p.P466S|CSAD_uc001sbz.3_Missense_Mutation_p.P439S|CSAD_uc009zmu.3_Missense_Mutation_p.P292S|CSAD_uc021qyd.1_Intron NM_001244705 NP_001231634 Q9Y600 CSAD_HUMAN Homo sapiens cysteine sulfinic acid decarboxylase (CSAD), transcript variant 2, mRNA. 439 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4) 14 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) TTGAGCACGGGGGCCACCTGTG 0.619000 5 4 0 0 6.4e-05 0 0 ELMOD1 55531 broad.mit.edu 37 11 107518222 107518222 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:107518222C>T uc010rvs.2 + 6 853 c.449C>T c.(448-450)cCa>cTa p.P150L ELMOD1_uc001pjm.3_Missense_Mutation_p.P150L|ELMOD1_uc010rvt.2_Missense_Mutation_p.P144L NM_018712 NP_061182 Q8N336 ELMD1_HUMAN Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA. 150 ELMO. phagocytosis cytoskeleton GTPase activator activity endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1) 19 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) CCCAATACTCCACTGGAATCT 0.383000 31 21 0 0 0.000586117 0 0 SLIT3 6586 broad.mit.edu 37 5 168119619 168119619 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:168119619C>T uc010jjg.3 - 28 3610 c.3190G>A c.(3190-3192)Gga>Aga p.G1064R SLIT3_uc003mab.3_Missense_Mutation_p.G1057R NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 1057 EGF-like 4. P -> A (in dbSNP:rs10072243). Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TACCTGAATCCTTTGTCCAGG 0.547000 21 31 0 0 0.00178596 0 0 CSMD1 64478 broad.mit.edu 37 8 2823369 2823369 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:2823369C>T uc022aqr.1 - 58 9598 c.9208G>A c.(9208-9210)Gaa>Aaa p.E3070K CSMD1_uc011kwj.2_Missense_Mutation_p.E2400K|CSMD1_uc010lrg.3_Intron NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 3071 Sushi 24. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTGACTGCTTCCATGACATAG 0.493000 11 6 0 0 0.000274275 0 0 DLK1 8788 broad.mit.edu 37 14 101200851 101200851 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:101200851G>A uc001yhs.4 + 4 974 c.770G>A c.(769-771)cGt>cAt p.R257H DLK1_uc001yhu.4_Intron|DLK1_uc021sbs.1_5'Flank NM_003836 NP_003827 P80370 DLK1_HUMAN Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA. 257 multicellular organismal development extracellular space|integral to membrane|soluble fraction p.R257H(2) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1) 29 Melanoma(154;0.155) CAGGTCACCCGTCTGCCCAGC 0.652000 45 12 0 0 0.000978159 0 0 MSR1 4481 broad.mit.edu 37 8 16007812 16007812 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:16007812C>T uc010lsu.3 - 6 1025 c.961G>A c.(961-963)Ggt>Agt p.G321S MSR1_uc003wwz.3_Missense_Mutation_p.G303S|MSR1_uc003wxa.3_Missense_Mutation_p.G303S|MSR1_uc003wxb.3_Missense_Mutation_p.G303S|MSR1_uc011kxz.2_Missense_Mutation_p.G77S NM_138715 NP_619729 P21757 MSRE_HUMAN Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA. 303 Collagen-like. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CCTTTAAGACCCGGAGGACCT 0.368000 52 10 0 0 0.000151284 0 0 SIM1 6492 broad.mit.edu 37 6 100901681 100901681 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:100901681G>A uc003pqj.4 - 1 682 c.215C>T c.(214-216)cCc>cTc p.P72L SIM1_uc021zdg.1_Missense_Mutation_p.P72L|SIM1_uc010kcu.3_Missense_Mutation_p.P72L NM_005068 NP_005059 P81133 SIM1_HUMAN Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA. 72 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GTTGTCCAGGGGGCTGGTCCG 0.622000 41 11 0 0 0.000673444 0 0 DNAH8 1769 broad.mit.edu 37 6 38835886 38835886 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:38835886C>T uc021yzh.1 + 47 6851 c.6742C>T c.(6742-6744)Ctt>Ttt p.L2248F DNAH8_uc003ooe.2_Missense_Mutation_p.L2031F NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ATTGAGGACTCTTGGATCTCA 0.363000 46 32 0 0 0.000491102 0 0 ABCA2 20 broad.mit.edu 37 9 139903069 139903069 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:139903069G>A uc004ckm.1 - 47 7211 c.7161C>T c.(7159-7161)ttC>ttT p.F2387F ABCA2_uc022bpy.1_Silent_p.F2288F|ABCA2_uc022bpz.1_Silent_p.F2358F|ABCA2_uc011mem.1_Silent_p.F2357F|ABCA2_uc004ckl.1_Silent_p.F2288F|ABCA2_uc022bqa.1_Silent_p.F24F NM_212533 NP_997698 Q9BZC7 ABCA2_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA. 2357 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CAAAGTTCACGAACACCTGGT 0.682000 7 13 0 0 0.00136819 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808424 18808424 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:18808424C>T uc001bax.3 + 0 1001 c.949C>T c.(949-951)Cca>Tca p.P317S KLHDC7A_uc009vpg.3_Missense_Mutation_p.P99S NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA. 317 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GACTGAGGTTCCATCCCCTAG 0.647000 11 12 0 0 0.00136819 0 0 SFTPB 6439 broad.mit.edu 37 2 85892775 85892775 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:85892775G>A uc002sqj.3 - 5 672 c.572C>T c.(571-573)cCt>cTt p.P191L SFTPB_uc002sqi.3_Missense_Mutation_p.P191L|SFTPB_uc002sqh.3_Missense_Mutation_p.P191L NM_000542 NP_942140 P07988 PSPB_HUMAN Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA. 179 organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3) 16 GGGCAGCACAGGGAGGACGAG 0.677000 39 23 0 0 0.00106085 0 0 ZNF385B 151126 broad.mit.edu 37 2 180311347 180311347 + Missense_Mutation SNP A G G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:180311347A>G uc002unn.4 - 6 1425 c.821T>C c.(820-822)gTt>gCt p.V274A ZNF385B_uc002unj.3_Missense_Mutation_p.V172A|ZNF385B_uc002unl.3_Missense_Mutation_p.V171A|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Missense_Mutation_p.V198A NM_152520 NP_001106869 Q569K4 Z385B_HUMAN Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA. 274 nucleus nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) TTCTGATTCAACAACAGTACC 0.473000 53 38 0 0 0.00111076 0 0 C16orf71 146562 broad.mit.edu 37 16 4786528 4786528 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:4786528G>A uc002cxn.3 + 1 475 c.13G>A c.(13-15)Gat>Aat p.D5N ANKS3_uc002cxj.2_5'Flank|ANKS3_uc021tcj.1_5'Flank|ANKS3_uc021tck.1_5'Flank|ANKS3_uc002cxk.3_5'Flank|ANKS3_uc010uxs.2_5'Flank|ANKS3_uc002cxm.3_5'Flank NM_139170 NP_631909 Q8IYS4 CP071_HUMAN Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA. 5 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 GGCATCCAACGATAAAGGCAT 0.622000 30 12 0 0 0.000308642 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142480020 142480020 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:142480020C>T uc011ksq.2 + 1 235 c.152C>T c.(151-153)tCc>tTc p.S51F TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA. TGCGGTGGCTCCCTCATCAGC 0.562000 152 31 0 0 0.00058488 0 0 IL36RN 26525 broad.mit.edu 37 2 113819753 113819753 + Silent SNP C A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:113819753C>A uc002tis.3 + 3 301 c.168C>A c.(166-168)ccC>ccA p.P56P IL36RN_uc002tit.3_Silent_p.P56P NM_173170 NP_775262 Q9UBH0 I36RA_HUMAN Homo sapiens interleukin 36 receptor antagonist (IL36RN), transcript variant 2, mRNA. 56 extracellular space cytokine activity|interleukin-1 receptor antagonist activity large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 GCCTGTCCCCCGTCATCCTGG 0.617000 45 5 0.00116845 0.00769693 0.00116845 1 0 SCN10A 6336 broad.mit.edu 37 3 38770173 38770173 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:38770173C>T uc003ciq.3 - 14 2500 c.2500G>A c.(2500-2502)Gac>Aac p.D834N NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 834 sensory perception voltage-gated sodium channel complex p.D834N(2) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGGAAGAAGTCGTGCATGTGC 0.512000 21 14 0 0 0.000151284 0 0 SYNE1 23345 broad.mit.edu 37 6 152847286 152847286 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:152847286C>T uc021zhb.1 - 2 377 c.154G>A c.(154-156)Gat>Aat p.D52N SYNE1_uc003qot.4_Missense_Mutation_p.D52N|SYNE1_uc003qou.4_Missense_Mutation_p.D52N|SYNE1_uc010kjb.1_Missense_Mutation_p.D52N|SYNE1_uc003qpa.1_Missense_Mutation_p.D52N NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 52 Actin-binding.|CH 1. 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) TCAAAAAGATCGTCCACCACC 0.423000 HNSCC(10;0.0054) 41 20 0 0 0.00047179 0 0 GJA5 2702 broad.mit.edu 37 1 147230415 147230415 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:147230415C>T uc021ovl.1 - 0 932 c.932G>A c.(931-933)gGt>gAt p.G311D GJA5_uc001eps.1_Missense_Mutation_p.G311D|GJA5_uc001ept.1_Missense_Mutation_p.G311D NM_181703 NP_859054 P36382 CXA5_HUMAN Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA. 311 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane p.E310D(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) CTGGATGAAACCTTCCCCAGG 0.517000 101 35 0 0 0.000491102 0 0 F8 2157 broad.mit.edu 37 X 154157677 154157677 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:154157677G>A uc004fmt.3 - 13 4559 c.4388C>T c.(4387-4389)tCt>tTt p.S1463F NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 1463 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.S1463P(1)|p.L1462H(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AATGGCTAAAGAAAGGTTATT 0.418000 7 34 0 0 0.000953801 0 0 OR2T33 391195 broad.mit.edu 37 1 248436220 248436220 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:248436220C>T uc010pzi.2 - 0 897 c.897G>A c.(895-897)ctG>ctA p.L299L NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA. 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L299Q(1) 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) GCCACCGTTTCAGGGCTCCCT 0.448000 152 66 0 0 0.000781405 0 0 SLC6A17 388662 broad.mit.edu 37 1 110740760 110740760 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:110740760C>T uc009wfq.3 + 11 2339 c.1878C>T c.(1876-1878)gtC>gtT p.V626V NM_001010898 NP_001010898 Q9H1V8 S6A17_HUMAN Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA. 626 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) CCCTCATCGTCGTGGCGACGC 0.637000 6 8 0 0 0.000274275 0 0 ELL2 22936 broad.mit.edu 37 5 95242469 95242469 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:95242469G>A uc003klr.4 - 4 849 c.499C>T c.(499-501)Cgg>Tgg p.R167W NM_012081 NP_036213 O00472 ELL2_HUMAN Homo sapiens elongation factor, RNA polymerase II, 2 (ELL2), mRNA. 167 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) GGTGCTTTCCGAATTTGCACT 0.423000 32 34 0 0 0.000374591 0 0 KCNJ18 100134444 broad.mit.edu 37 17 21319617 21319617 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:21319617C>T uc021tss.1 + 2 1333 c.963C>T c.(961-963)atC>atT p.I321I KCNJ18_uc002gyv.1_Silent_p.I321I|KCNJ18_uc021tst.1_Silent_p.I321I NM_001194958 NP_001181887 B7U540 IRK18_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA. 321 integral to membrane inward rectifier potassium channel activity CCAATGAGATCCTGTGGGGTC 0.577000 164 28 0 0 0.000878237 0 0 TGM4 7047 broad.mit.edu 37 3 44943043 44943043 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:44943043C>T uc003coc.4 + 6 758 c.685C>T c.(685-687)Ctc>Ttc p.L229F TGM4_uc003cob.2_Non-coding_Transcript NM_003241 NP_003232 P49221 TGM4_HUMAN Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA. 229 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) CCAGGGCGTGCTCATTGGGAA 0.597000 8 4 0 0 0.00024832 0 0 GMDS 2762 broad.mit.edu 37 6 1961041 1961041 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:1961041C>T uc003mtq.3 - 4 717 c.505G>A c.(505-507)Gag>Aag p.E169K GMDS_uc021ykn.1_Missense_Mutation_p.E139K NM_001500 NP_001491 O60547 GMDS_HUMAN Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA. 169 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion GDP-mannose 4,6-dehydratase activity|coenzyme binding p.E169*(2) GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) GGGGTGGTCTCCTTCTGGGGT 0.502000 88 27 0 0 0.000339439 0 0 KCNQ1 3784 broad.mit.edu 37 11 2608915 2608915 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:2608915C>T uc001lwn.3 + 8 1352 c.1244C>T c.(1243-1245)tCt>tTt p.S415F KCNQ1_uc009ydp.1_Missense_Mutation_p.S199F|KCNQ1_uc001lwo.3_Missense_Mutation_p.S288F NM_000218 NP_000209 P51787 KCNQ1_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA. 415 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) CCCAAGAAGTCTGTGGTGGTG 0.647000 164 34 0 0 0.00058488 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7518552 7518552 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:7518552C>T uc002mgi.3 + 6 1744 c.1491C>T c.(1489-1491)ctC>ctT p.L497L ARHGEF18_uc010xjm.1_Silent_p.L339L|ARHGEF18_uc002mgh.3_Silent_p.L339L|ARHGEF18_uc002mgj.1_Silent_p.L140L NM_001130955 NP_056133 Q6ZSZ5 ARHGI_HUMAN Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA. 497 PH. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) AGCGGCAGCTCCACCTGGAGG 0.582000 53 8 0 0 0.000442599 0 0 YME1L1 10730 broad.mit.edu 37 10 27423048 27423048 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:27423048G>A uc001iti.3 - 7 1076 c.866C>T c.(865-867)tCc>tTc p.S289F YME1L1_uc001itj.3_Missense_Mutation_p.S232F|YME1L1_uc010qdl.2_Missense_Mutation_p.S199F NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 289 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 TCGCCTTAGGGAATCTAGGAG 0.318000 17 8 0 0 0.000157383 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156918202 156918202 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:156918202G>A uc001fqo.3 - 21 2934 c.1894C>T c.(1894-1896)Cgc>Tgc p.R632C ARHGEF11_uc010phu.2_Missense_Mutation_p.R48C|ARHGEF11_uc001fqn.3_Missense_Mutation_p.R672C|ARHGEF11_uc001fqp.1_Missense_Mutation_p.R151C NM_014784 NP_055599 O15085 ARHGB_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA. 632 G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction Golgi apparatus|cytosol|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTGCGAGAGCGGGGCACGTTC 0.622000 69 16 0 0 0.000422831 0 0 ABAT 18 broad.mit.edu 37 16 8829605 8829605 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:8829605C>T uc002czc.4 + 1 175 c.9C>T c.(7-9)tcC>tcT p.S3S ABAT_uc002czd.4_Silent_p.S3S|ABAT_uc010buh.3_5'UTR|ABAT_uc010bui.3_Silent_p.S3S NM_020686 NP_065737 P80404 GABT_HUMAN Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 3 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) TCATGGCCTCCATGTTGCTCG 0.592000 9 4 0 0 0.00116845 0 0 ACVR2A 92 broad.mit.edu 37 2 148657386 148657386 + Missense_Mutation SNP A T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:148657386A>T uc002twg.3 + 4 716 c.447A>T c.(445-447)ttA>ttT p.L149F ACVR2A_uc010zbn.2_Missense_Mutation_p.L41F|ACVR2A_uc002twh.3_Missense_Mutation_p.L149F NM_001616 NP_001607 P27037 AVR2A_HUMAN Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA. 149 BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) CACTTATGTTAATTGCGGGGA 0.443000 115 71 0 0 0.000781405 0 0 DMBT1 1755 broad.mit.edu 37 10 124399588 124399588 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:124399588C>T uc001lgk.1 + 51 6694 c.6588C>T c.(6586-6588)ttC>ttT p.F2196F DMBT1_uc001lgl.1_Silent_p.F2186F|DMBT1_uc001lgm.1_Silent_p.F1568F|DMBT1_uc021qaf.1_Silent_p.F2196F|DMBT1_uc021qag.1_Silent_p.F2186F|DMBT1_uc021qah.1_Silent_p.F1568F|DMBT1_uc009xzz.1_Silent_p.F2195F|DMBT1_uc010qtx.1_Silent_p.F916F|DMBT1_uc009yab.1_Silent_p.F899F|DMBT1_uc009yac.1_Silent_p.F490F NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 2196 ZP. F -> L (in Ref. 2; CAB56155). 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) ATTCCAACTTCCTCACAGCAG 0.522000 35 10 0 0 0.000978159 0 0 GRM5 2915 broad.mit.edu 37 11 88337902 88337902 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:88337902C>T uc001pcq.3 - 3 1578 c.1378G>A c.(1378-1380)Gga>Aga p.G460R GRM5_uc009yvm.3_Missense_Mutation_p.G460R NM_001143831 NP_001137303 P41594 GRM5_HUMAN Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA. 460 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GGAGAGTCTCCATTCTCATCG 0.428000 18 7 0 0 8.12818e-05 0 0 C1orf55 163859 broad.mit.edu 37 1 226180687 226180687 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:226180687G>A uc001hpu.4 - 2 308 c.255C>T c.(253-255)ctC>ctT p.L85L NM_152608 NP_689821 Q6IQ49 CA055_HUMAN Homo sapiens chromosome 1 open reading frame 55 (C1orf55), mRNA. 85 central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(13)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(184;0.197) CAAGTGCTCGGAGCATAGATC 0.423000 50 11 0 0 0.00136819 0 0 FAM188B 84182 broad.mit.edu 37 7 30880418 30880418 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:30880418C>T uc003tbt.3 + 8 1476 c.1399C>T c.(1399-1401)Cta>Tta p.L467L FAM188B_uc010kwe.3_Silent_p.L438L NM_032222 NP_115598 Q4G0A6 F188B_HUMAN Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA. 467 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGGCTGTGTCCTACAGAAACT 0.507000 76 18 0 0 0.000229342 0 0 ZSCAN23 222696 broad.mit.edu 37 6 28403789 28403789 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:28403789C>T uc003nli.4 - 1 436 c.255G>A c.(253-255)gaG>gaA p.E85E ZSCAN23_uc003nlh.2_Non-coding_Transcript|ZSCAN23_uc010jrf.1_Intron|ZSCAN23_uc011dli.2_Silent_p.E85E NM_001012455 NP_001012458 Q3MJ62 ZSC23_HUMAN Homo sapiens zinc finger and SCAN domain containing 23 (ZSCAN23), mRNA. 85 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|prostate(1)|stomach(2) 4 CTAGGATCTGCTCCTTGGTGT 0.607000 31 6 0 0 0.000442599 0 0 NISCH 11188 broad.mit.edu 37 3 52524839 52524839 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:52524839C>T uc003ded.4 + 18 3866 c.3732C>T c.(3730-3732)ttC>ttT p.F1244F NISCH_uc003dee.4_Silent_p.F733F|NISCH_uc003deg.1_Non-coding_Transcript NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN Homo sapiens nischarin (NISCH), mRNA. 1244 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) ACCAGCATTTCCGGCTGACGG 0.542000 45 17 0 0 0.000295444 0 0 CASP5 838 broad.mit.edu 37 11 104866478 104866478 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:104866478C>T uc010ruz.1 - 8 1369 c.1337G>A c.(1336-1338)gGc>gAc p.G446D CASP5_uc010rva.1_Missense_Mutation_p.G433D|CASP5_uc010rvb.1_Missense_Mutation_p.G375D|CASP5_uc010rvc.1_Missense_Mutation_p.G291D|CASP5_uc009yxh.2_Missense_Mutation_p.G215D|CASP5_uc010rvd.1_Missense_Mutation_p.G215D NM_001136112 NP_001129584 P51878 CASP5_HUMAN Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA. 433 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) TTTTCAATTGCCAGGAAAGAG 0.403000 41 25 0 0 0.00047179 0 0 KIF6 221458 broad.mit.edu 37 6 39602662 39602662 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:39602662C>T uc003oot.2 - 4 567 c.472G>A c.(472-474)Gat>Aat p.D158N KIF6_uc010jxa.1_5'UTR|KIF6_uc011dua.1_Missense_Mutation_p.D158N|KIF6_uc010jxb.1_Missense_Mutation_p.D158N NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN Homo sapiens kinesin family member 6 (KIF6), mRNA. 158 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TGTCTTGGATCCAAAAGATCA 0.358000 50 30 0 0 0.00178596 0 0 PM20D1 148811 broad.mit.edu 37 1 205814641 205814641 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:205814641C>T uc001hdj.3 - 2 377 c.301G>A c.(301-303)Gtg>Atg p.V101M PM20D1_uc009xbr.3_Non-coding_Transcript NM_152491 NP_689704 Q6GTS8 P20D1_HUMAN Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA. 101 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) TACTCTTCCACGACTTCATGC 0.507000 47 40 0 0 0.000437636 0 0 SEZ6L 23544 broad.mit.edu 37 22 26707860 26707860 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr22:26707860G>A uc003acb.3 + 7 2004 c.1808G>A c.(1807-1809)gGc>gAc p.G603D SEZ6L_uc003acd.3_Missense_Mutation_p.G603D|SEZ6L_uc011akd.2_Missense_Mutation_p.G603D|SEZ6L_uc003ace.3_Missense_Mutation_p.G603D|SEZ6L_uc011akc.2_Missense_Mutation_p.G603D|SEZ6L_uc003acc.3_Missense_Mutation_p.G603D|SEZ6L_uc003acf.1_Missense_Mutation_p.G376D|SEZ6L_uc010gvc.1_Missense_Mutation_p.G376D NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 603 Sushi 2. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CTGGAGCAGGGCCCGGCCATC 0.577000 158 58 0 0 0.000781405 0 0 KRT85 3891 broad.mit.edu 37 12 52760939 52760939 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:52760939G>A uc001sag.3 - 0 371 c.251C>T c.(250-252)tCc>tTc p.S84F NM_002283 NP_002274 P78386 KRT85_HUMAN Homo sapiens keratin 85 (KRT85), mRNA. 84 Head. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CACGCCCCCGGAGCGGTAGCC 0.687000 44 24 0 0 0.000720815 0 0 LIN28B 389421 broad.mit.edu 37 6 105526589 105526589 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:105526589G>A uc003pqv.1 + 3 887 c.684G>A c.(682-684)acG>acA p.T228T LIN28B_uc010kda.1_3'UTR NM_001004317 NP_001004317 Q6ZN17 LN28B_HUMAN Homo sapiens lin-28 homolog B (C. elegans) (LIN28B), mRNA. 228 RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|RNA binding|protein binding|zinc ion binding p.S227S(1) large_intestine(1)|lung(10)|ovary(1) 12 all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204) CTTCCTCCACGAAGTCATCTA 0.488000 26 8 0 0 0.000673444 0 0 KCNC2 3747 broad.mit.edu 37 12 75444313 75444313 + Missense_Mutation SNP C A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:75444313C>A uc001sxg.1 - 2 2016 c.1472G>T c.(1471-1473)aGg>aTg p.R491M KCNC2_uc009zry.3_Missense_Mutation_p.R491M|KCNC2_uc001sxe.3_Missense_Mutation_p.R491M|KCNC2_uc001sxf.3_Missense_Mutation_p.R491M|KCNC2_uc010stw.1_Missense_Mutation_p.R491M NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA. 491 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 CTTTCTTTTCCTTGGAAGTTT 0.453000 68 14 1.5842e-08 1.06833e-07 0.000151284 1 0 UNC13D 201294 broad.mit.edu 37 17 73827358 73827358 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:73827358G>A uc002jpp.3 - 25 2899 c.2519C>T c.(2518-2520)tCc>tTc p.S840F UNC13D_uc010wsk.1_Missense_Mutation_p.S840F NM_199242 NP_954712 Q70J99 UN13D_HUMAN Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA. 840 MHD2. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) GGAAGCCAGGGATGAGCTGCG 0.637000 Familial Hemophagocytic Lymphohistiocytosis 41 8 0 0 0.000442599 0 0 NLRP1 22861 broad.mit.edu 37 17 5445200 5445200 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:5445200C>T uc002gci.3 - 5 3231 c.2676G>A c.(2674-2676)ccG>ccA p.P892P NLRP1_uc002gcg.1_Silent_p.P892P|NLRP1_uc002gch.4_Silent_p.P892P|NLRP1_uc002gck.3_Silent_p.P892P|NLRP1_uc002gcj.3_Silent_p.P892P|NLRP1_uc002gcl.3_Silent_p.P892P|NLRP1_uc010clh.3_Silent_p.P892P NM_033004 NP_127497 Q9C000 NALP1_HUMAN Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA. 892 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide NALP1 inflammasome complex|cytoplasm|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GCTTGCAGCTCGGCTGTCTCA 0.587000 39 16 0 0 0.00074312 0 0 CCDC141 285025 broad.mit.edu 37 2 179730571 179730571 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:179730571G>A uc002une.2 - 16 2765 c.2647C>T c.(2647-2649)Cgt>Tgt p.R883C CCDC141_uc002unf.1_Missense_Mutation_p.R362C NM_173648 NP_775919 Q6ZP82 CC141_HUMAN Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA. 308 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GCTTTGGCACGCCACTTCATG 0.527000 206 56 0 0 0.000781405 0 0 UGT3A1 133688 broad.mit.edu 37 5 35991296 35991297 + Missense_Mutation DNP CC TT TT TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:35991296_35991297CC>TT uc003jjv.2 - 0 239_240 c.46_47GG>AA c.(46-48)ggg>AAg p.G16K UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.G16K|UGT3A1_uc011cor.2_Missense_Mutation_p.G16K|UGT3A1_uc003jjy.2_Intron NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA. 16 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GAGCAGGACCCCAGAAAGAAGG 0.619000 40 22 0 0 6.4e-05 0 0 ZEB1 6935 broad.mit.edu 37 10 31810034 31810034 + Missense_Mutation SNP A T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:31810034A>T uc001ivs.4 + 6 1834 c.1771A>T c.(1771-1773)Aac>Tac p.N591Y ZEB1_uc001ivr.4_Missense_Mutation_p.N373Y|ZEB1_uc010qef.2_Missense_Mutation_p.N373Y|ZEB1_uc009xlj.1_Missense_Mutation_p.N517Y|ZEB1_uc010qeg.1_Missense_Mutation_p.N450Y|ZEB1_uc009xlk.1_Missense_Mutation_p.N373Y|ZEB1_uc001ivu.4_Missense_Mutation_p.N592Y|ZEB1_uc010qeh.2_Missense_Mutation_p.N524Y|ZEB1_uc001ivv.4_Missense_Mutation_p.N571Y|ZEB1_uc001ivt.4_Missense_Mutation_p.N373Y|ZEB1_uc009xlo.2_Missense_Mutation_p.N574Y|ZEB1_uc009xlp.3_Missense_Mutation_p.N575Y NM_030751 NP_110378 P37275 ZEB1_HUMAN Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA. 591 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) ACCTTTAAAGAACCTCTTGTC 0.458000 41 8 0 0 0.000274275 0 0 COL21A1 81578 broad.mit.edu 37 6 56044434 56044434 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:56044434C>T uc003pcs.3 - 2 814 c.582G>A c.(580-582)gtG>gtA p.V194V COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Silent_p.V194V|COL21A1_uc003pcu.1_Silent_p.V194V NM_030820 NP_110447 Q96P44 COLA1_HUMAN Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA. 194 VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TATAGTCTTCCACATAAAACA 0.343000 38 10 0 0 0.000442599 0 0 RUFY4 285180 broad.mit.edu 37 2 218947953 218947953 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:218947953G>A uc010fvl.2 + 10 1994 c.1476G>A c.(1474-1476)atG>atA p.M492I RUFY4_uc002vgw.3_Missense_Mutation_p.M319I NM_198483 NP_940885 Q6ZNE9 RUFY4_HUMAN Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA. 492 metal ion binding endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Renal(207;0.0915) Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TCCAGGCCATGAAGAGGCGGG 0.597000 34 30 0 0 0.00170553 0 0 FILIP1 27145 broad.mit.edu 37 6 76023520 76023520 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:76023520G>A uc010kbe.3 - 5 2567 c.2037C>T c.(2035-2037)ttC>ttT p.F679F FILIP1_uc003phy.1_Silent_p.F676F|FILIP1_uc003phz.3_Silent_p.F577F|FILIP1_uc003pia.3_Silent_p.F676F|FILIP1_uc003pib.1_Silent_p.F428F NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 676 p.S678S(1)|p.F676F(1) breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 GTTGAGAGAGGAAGTTAGCCT 0.433000 107 54 0 0 0.000781405 0 0 BPI 671 broad.mit.edu 37 20 36954768 36954768 + Silent SNP C T T rs144501421 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:36954768C>T uc002xib.2 + 9 1169 c.1107C>T c.(1105-1107)gcC>gcT p.A369A NM_001725 NP_001716 P17213 BPI_HUMAN Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA. 369 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding p.P368H(1) kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) TCTACCCTGCCGTGGATGTCC 0.582000 24 8 0 0 0.000157383 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995196 140995196 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:140995196G>A uc004fbt.3 + 3 2330 c.2006G>A c.(2005-2007)gGg>gAg p.G669E MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.G328E NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 669 protein binding p.E668K(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CCTCCTGAGGGGATGCACTCC 0.572000 HNSCC(15;0.026) 20 62 0 0 0.000781405 0 0 EPHB6 2051 broad.mit.edu 37 7 142566054 142566054 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:142566054C>T uc011kst.2 + 13 2761 c.1974C>T c.(1972-1974)atC>atT p.I658I EPHB6_uc011ksu.2_Silent_p.I658I|EPHB6_uc003wbs.3_Silent_p.I366I|EPHB6_uc003wbt.3_Silent_p.I132I|EPHB6_uc003wbu.3_Silent_p.I366I|EPHB6_uc003wbv.3_Silent_p.I42I NM_004445 NP_004436 O15197 EPHB6_HUMAN Homo sapiens EPH receptor B6 (EPHB6), mRNA. 658 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GTCAGGCCATCCGAGAACTTG 0.562000 55 24 0 0 0.000586117 0 0 CCR3 1232 broad.mit.edu 37 3 46307563 46307563 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:46307563G>A uc003cpl.2 + 2 2044 c.1013G>A c.(1012-1014)gGa>gAa p.G338E CCR3_uc003cpg.2_Missense_Mutation_p.G305E|CCR3_uc003cpk.2_Missense_Mutation_p.G326E|CCR3_uc003cpi.2_Missense_Mutation_p.G305E|CCR3_uc010hjb.2_Missense_Mutation_p.G323E|CCR3_uc003cpj.2_Missense_Mutation_p.G305E|CCR3_uc021wwz.1_Missense_Mutation_p.G305E NM_178329 NP_847899 P51677 CCR3_HUMAN Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA. 305 G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) GCCTTTGTTGGAGAGAGGTTC 0.552000 23 8 0 0 0.000673444 0 0 OR52N4 390072 broad.mit.edu 37 11 5776758 5776758 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:5776758C>T uc001mbu.3 + 0 836 c.788C>T c.(787-789)tCc>tTc p.S263F TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA. 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) TCCTTCTTTTCCCACCGCTTT 0.478000 88 32 0 0 0.000692331 0 0 PI16 221476 broad.mit.edu 37 6 36931063 36931063 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:36931063C>T uc021yzd.1 + 5 1168 c.945C>T c.(943-945)atC>atT p.I315I PI16_uc003omz.1_Intron|PI16_uc003ona.3_Silent_p.I315I|PI16_uc011dts.1_Silent_p.I86I NM_001199159 NP_001186088 Q6UXB8 PI16_HUMAN Homo sapiens peptidase inhibitor 16 (PI16), transcript variant 2, mRNA. 315 extracellular region|integral to membrane peptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ATGTTCCTATCCCAAAATCAG 0.527000 40 15 0 0 0.00152264 0 0 TREH 11181 broad.mit.edu 37 11 118532427 118532427 + Nonsense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:118532427C>T uc001pty.1 - 5 581 c.536G>A c.(535-537)tGg>tAg p.W179* TREH_uc009zaj.1_Intron|TREH_uc001ptz.1_Nonsense_Mutation_p.W56*|TREH_uc009zak.3_Nonsense_Mutation_p.W179* NM_007180 NP_009111 O43280 TREA_HUMAN Homo sapiens trehalase (brush-border membrane glycoprotein) (TREH), mRNA. 179 polysaccharide digestion|trehalose catabolic process anchored to plasma membrane alpha,alpha-trehalase activity NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.16e-05) CTCCATGACCCAGTAGGAGTC 0.632000 32 5 0 0 0.000602214 0 0 C12orf42 374470 broad.mit.edu 37 12 103762667 103762667 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:103762667G>A uc001tjt.2 - 3 345 c.257C>T c.(256-258)cCa>cTa p.P86L C12orf42_uc001tjs.3_Non-coding_Transcript|C12orf42_uc009zuf.1_Missense_Mutation_p.P86L|C12orf42_uc001tju.2_5'UTR NM_198521 NP_940923 Q96LP6 CL042_HUMAN Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA. 86 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 TAATTTACCTGGAAAATTCAG 0.343000 3 6 0 0 0.00116845 0 0 SLC26A9 115019 broad.mit.edu 37 1 205895697 205895698 + Missense_Mutation DNP GG AA AA TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:205895697_205895698GG>AA uc001hdp.3 - 11 1468_1469 c.1354_1355CC>TT c.(1354-1356)ccc>TTc p.P452F SLC26A9_uc001hdo.3_Missense_Mutation_p.P120F|SLC26A9_uc001hdq.3_Missense_Mutation_p.P452F NM_134325 NP_599152 Q7LBE3 S26A9_HUMAN Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA. 452 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) CAGGTAGTAGGGGTCGGTGAGT 0.584000 66 30 0 0 6.4e-05 0 0 KRT34 3885 broad.mit.edu 37 17 39538518 39538518 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:39538518G>A uc002hwm.3 - 0 119 c.107C>T c.(106-108)tCc>tTc p.S36F NM_021013 NP_066293 O76011 KRT34_HUMAN Homo sapiens keratin 34 (KRT34), mRNA. 36 Head. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) ACAGGTAATGGAAAAGCAGGT 0.582000 26 23 0 0 0.00047179 0 0 GRIN3A 116443 broad.mit.edu 37 9 104340091 104340091 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:104340091C>T uc004bbp.2 - 7 3568 c.2967G>A c.(2965-2967)gaG>gaA p.E989E GRIN3A_uc004bbo.2_Silent_p.E64E|GRIN3A_uc004bbq.1_Silent_p.E989E NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 989 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GCTGCTTTTCCTCTATAAATG 0.358000 29 59 0 0 0.000781405 0 0 RIMS2 9699 broad.mit.edu 37 8 105263362 105263362 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:105263362G>A uc003yls.3 + 26 4097 c.3856G>A c.(3856-3858)Gaa>Aaa p.E1286K RIMS2_uc003ylp.3_Missense_Mutation_p.E1268K|RIMS2_uc003ylw.2_Missense_Mutation_p.E1275K|RIMS2_uc003ylq.3_Missense_Mutation_p.E1082K|RIMS2_uc003ylr.3_Missense_Mutation_p.E1107K NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 1330 C2 2. intracellular protein transport cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ATTATCTTTCGAAGAGAGTCC 0.368000 HNSCC(12;0.0054) 17 13 0 0 0.000219431 0 0 SLC35G2 80723 broad.mit.edu 37 3 136574014 136574014 + Missense_Mutation SNP A T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:136574014A>T uc003erf.4 + 1 926 c.712A>T c.(712-714)Atc>Ttc p.I238F SLC35G2_uc003erg.4_Missense_Mutation_p.I238F|SLC35G2_uc010hub.3_Missense_Mutation_p.I238F|SLC35G2_uc021xem.1_Missense_Mutation_p.I238F NM_001097600 NP_079522 Q8TBE7 TMM22_HUMAN Homo sapiens transmembrane protein 22 (TMEM22), transcript variant 3, mRNA. 238 DUF6 1. Golgi apparatus|integral to membrane TCTTGTCATGATCCCAAACAT 0.423000 46 18 0 0 0.000958276 0 0 GPR116 221395 broad.mit.edu 37 6 46874483 46874483 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:46874483C>T uc003oyo.3 - 1 306 c.17G>A c.(16-18)aGa>aAa p.R6K GPR116_uc003oyp.3_Missense_Mutation_p.R6K|GPR116_uc003oyq.3_Missense_Mutation_p.R6K|GPR116_uc003oyr.2_Missense_Mutation_p.R6K|BC042990_uc003oys.3_Intron NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 6 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.R6I(2) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) CAAAGTGGTTCTCCTTGGGGA 0.358000 39 38 0 0 0.00111076 0 0 WISP1 8840 broad.mit.edu 37 8 134239797 134239797 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:134239797G>A uc003yub.3 + 4 1054 c.948G>A c.(946-948)aaG>aaA p.K316K WISP1_uc003yuc.3_Silent_p.K229K|WISP1_uc010meb.3_Silent_p.K144K|WISP1_uc010mec.3_3'UTR|WISP1_uc010med.3_Silent_p.K71K|WISP1_uc003yud.3_Non-coding_Transcript NM_003882 NP_003873 O95388 WISP1_HUMAN Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA. 316 CTCK. Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) ACAAGTCTAAGACTATCGACG 0.517000 52 37 0 0 0.000374591 0 0 OR2T10 127069 broad.mit.edu 37 1 248756644 248756644 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:248756644G>A uc010pzn.2 - 0 426 c.426C>T c.(424-426)ctC>ctT p.L142L NM_001004693 NP_001004693 Q8NGZ9 O2T10_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA. 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|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;0.0265) ATGCCAGGAGGAGACATACCC 0.562000 62 31 0 0 0.000339439 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871441 51871441 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:51871441G>A uc002xwo.3 + 1 2331 c.1444G>A c.(1444-1446)Gag>Aag p.E482K TSHZ2_uc021wex.1_Missense_Mutation_p.E479K NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 482 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CGTGAAAAGCGAGGACTATGA 0.428000 99 36 0 0 0.000814825 0 0 PIPOX 51268 broad.mit.edu 37 17 27383231 27383231 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:27383231C>T uc002hdr.1 + 7 1407 c.1081C>T c.(1081-1083)Ctg>Ttg p.L361L NM_016518 NP_057602 Q9P0Z9 SOX_HUMAN Homo sapiens pipecolic acid oxidase (PIPOX), mRNA. 361 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) GGGGAAGATCCTGTATGAATT 0.522000 46 18 0 0 0.000958276 0 0 CRB2 286204 broad.mit.edu 37 9 126125453 126125453 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:126125453C>T uc004bnx.1 + 1 496 c.404C>T c.(403-405)cCc>cTc p.P135L CRB2_uc004bnw.1_Missense_Mutation_p.P135L NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA. 135 EGF-like 2; calcium-binding (Potential). extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 TGCCATTGCCCCCTTGGCTAT 0.622000 14 4 0 0 0.00024832 0 0 ZDBF2 57683 broad.mit.edu 37 2 207174680 207174680 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:207174680G>A uc002vbp.2 + 4 5678 c.5428G>A c.(5428-5430)Gat>Aat p.D1810N NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 1810 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 TGTCATAGAGGATAATCCTGA 0.393000 54 34 0 0 0.00058488 0 0 MYO3A 53904 broad.mit.edu 37 10 26241128 26241128 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:26241128G>A uc001isn.2 + 2 449 c.89G>A c.(88-90)gGa>gAa p.G30E MYO3A_uc009xko.1_Missense_Mutation_p.G30E|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.G30E|MYO3A_uc001ism.2_Missense_Mutation_p.G30E NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 30 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 ATTGGCAAAGGAACTTATGGG 0.323000 33 19 0 0 0.000958276 0 0 SERPINA1 5265 broad.mit.edu 37 14 94849309 94849309 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:94849309G>A uc001ycy.4 - 3 820 c.266C>T c.(265-267)tCc>tTc p.S89F SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Missense_Mutation_p.S89F|SERPINA1_uc010auy.3_Missense_Mutation_p.S89F|SERPINA1_uc001ycz.4_Missense_Mutation_p.S89F|SERPINA1_uc010auz.3_Missense_Mutation_p.S89F|SERPINA1_uc010ava.3_Missense_Mutation_p.S89F|SERPINA1_uc001ydb.4_Missense_Mutation_p.S89F|SERPINA1_uc010avb.3_Missense_Mutation_p.S89F|SERPINA1_uc001ydc.4_Missense_Mutation_p.S89F|SERPINA1_uc010auw.3_Missense_Mutation_p.S89F|SERPINA1_uc010aux.3_Missense_Mutation_p.S89F|SERPINA1_uc001yda.1_Missense_Mutation_p.S89F NM_001002236 NP_001121179 P01009 A1AT_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA. 89 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) GGTCCCCAGGGAGAGCATTGC 0.547000 72 32 0 0 0.000953801 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12888042 12888042 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:12888042C>T uc002gnr.4 + 19 2461 c.2134C>T c.(2134-2136)Ccc>Tcc p.P712S ARHGAP44_uc010vvk.2_Missense_Mutation_p.P712S|ARHGAP44_uc010vvl.2_Missense_Mutation_p.P706S|ARHGAP44_uc002gns.4_Missense_Mutation_p.P506S|ARHGAP44_uc010vvm.2_Missense_Mutation_p.P706S|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc021tqh.1_5'Flank NM_014859 NP_055674 Q17R89 RHG44_HUMAN Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA. 712 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 TGCAGCTCCTCCCCTGGCCTC 0.647000 12 12 0 0 0.00136819 0 0 C12orf63 374467 broad.mit.edu 37 12 97114192 97114192 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:97114192C>T uc021rcc.1 + 16 2167 c.2089C>T c.(2089-2091)Ctg>Ttg p.L697L Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 697 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 GTCGATGTTACTGATGGAAGC 0.443000 23 9 0 0 0.000274275 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52002861 52002861 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:52002861C>T uc002pwx.1 - 2 974 c.918G>A c.(916-918)acG>acA p.T306T SIGLEC12_uc002pww.1_Silent_p.T188T|SIGLEC12_uc010eoy.1_Silent_p.T33T NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA. 306 Ig-like C2-type 1. cell adhesion integral to membrane sugar binding p.T306M(1) NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TCCAGGTGATCGTGGGGGGCG 0.667000 26 18 0 0 0.000958276 0 0 MAGEE1 57692 broad.mit.edu 37 X 75648631 75648632 + Missense_Mutation DNP CC TT TT TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:75648631_75648632CC>TT uc004ecm.2 + 0 586_587 c.308_309CC>TT c.(307-309)tcc>tTT p.S103F NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA. 103 dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CCTGGCACCTCCGTGCTGCCCA 0.683000 0 11 0 0 6.4e-05 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815088 106815088 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:106815088C>T uc003ymd.3 + 7 2801 c.2778C>T c.(2776-2778)tcC>tcT p.S926S ZFPM2_uc011lhs.2_Silent_p.S657S NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 926 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGCAGCCTTCCCCCAATGGAA 0.428000 22 8 0 0 0.000157383 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111936842 111936842 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:111936842C>T uc004bdz.1 - 25 2990 c.2695G>A c.(2695-2697)Gaa>Aaa p.E899K NM_019114 NP_061987 Q9H329 E41LB_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA. 899 E -> R (in Ref. 1; AAG43366). cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton p.E899K(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTTCACAGTTCGGTCATCAAC 0.458000 40 11 0 0 0.000978159 0 0 NAA16 79612 broad.mit.edu 37 13 41932585 41932585 + Missense_Mutation SNP C A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr13:41932585C>A uc001uyf.2 + 10 1557 c.1233C>A c.(1231-1233)ttC>ttA p.F411L NAA16_uc010tfg.1_Non-coding_Transcript|NAA16_uc001uye.4_Missense_Mutation_p.F411L|NAA16_uc001uyd.4_3'UTR NM_024561 NP_078837 Q6N069 NAA16_HUMAN Homo sapiens N(alpha)-acetyltransferase 16, NatA auxiliary subunit (NAA16), transcript variant 1, mRNA. 411 N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2) 31 TAGAATTATTCTATATGAAAG 0.318000 67 12 4.3838e-07 2.9377e-06 0.000151284 1 0 KIAA0020 9933 broad.mit.edu 37 9 2837296 2837296 + Missense_Mutation SNP T C C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:2837296T>C uc003zhp.1 - 2 284 c.188A>G c.(187-189)aAg>aGg p.K63R KIAA0020_uc003zhq.1_Missense_Mutation_p.K63R NM_014878 NP_055693 Q15397 K0020_HUMAN Homo sapiens KIAA0020 (KIAA0020), mRNA. 63 endoplasmic reticulum|nucleolus RNA binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(50;0.0319) CTTTACACCCTTTTTCCCAAG 0.388000 182 5 0 0 0.000602214 0 0 EIF2C1 26523 broad.mit.edu 37 1 36358768 36358768 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:36358768C>T uc001bzl.3 + 3 614 c.401C>T c.(400-402)gCc>gTc p.A134V EIF2C1_uc001bzk.3_Missense_Mutation_p.A59V|EIF2C1_uc009vuy.3_5'Flank NM_012199 NP_036331 Q9UL18 AGO1_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA. 134 negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome RNA binding|protein binding biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1) 36 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AAGTGGCTAGCCATTGTGAGC 0.557000 12 14 0 0 0.000219431 0 0 TG 7038 broad.mit.edu 37 8 133900398 133900398 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:133900398C>T uc003ytw.3 + 9 2387 c.2346C>T c.(2344-2346)ttC>ttT p.F782F NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 782 Thyroglobulin type-1 7. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGCAGGTCTTCGAGTTGTACC 0.562000 19 4 0 0 0.00024832 0 0 COL19A1 1310 broad.mit.edu 37 6 70847578 70847578 + Splice_Site SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:70847578G>A uc003pfc.1 + 19 1501 c.1384_splice c.e19-1 p.G462_splice COL19A1_uc010kam.2_Splice_Site_p.G358_splice NM_001858 NP_001849 Q14993 COJA1_HUMAN Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA. 462 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 TCTTGAAAGGGTGAAACTGGA 0.408000 88 28 0 0 0.000814825 0 0 DMXL2 23312 broad.mit.edu 37 15 51828531 51828531 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:51828531G>A uc010ufy.2 - 11 2371 c.2146C>T c.(2146-2148)Cat>Tat p.H716Y DMXL2_uc002abf.3_Missense_Mutation_p.H716Y|DMXL2_uc010bfa.3_Missense_Mutation_p.H716Y NM_001174116 NP_001167587 Q8TDJ6 DMXL2_HUMAN Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA. 716 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TTTGGGTCATGAAATGTACGA 0.393000 75 81 0 0 0.000781405 0 0 SVOPL 136306 broad.mit.edu 37 7 138333801 138333801 + Missense_Mutation SNP G A A rs143755972 byFrequency TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:138333801G>A uc011kqh.2 - 6 616 c.616C>T c.(616-618)Cgc>Tgc p.R206C SVOPL_uc003vue.3_Missense_Mutation_p.R54C NM_001139456 NP_001132928 Q8N434 SVOPL_HUMAN Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA. 206 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 GAGGCGACGCGAATGAGCCAG 0.612000 39 17 0 0 0.000566183 0 0 ELP4 26610 broad.mit.edu 37 11 31531334 31531334 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:31531334G>A uc001mtc.3 + 0 38 c.3G>A c.(1-3)atG>atA p.M1I IMMP1L_uc001msy.1_5'Flank|IMMP1L_uc001msz.1_5'Flank|ELP4_uc001mtb.3_Missense_Mutation_p.M1I|ELP4_uc010rdz.2_Missense_Mutation_p.M1I|IMMP1L_uc009yjo.3_5'Flank|IMMP1L_uc009yjp.3_5'Flank Q96EB1 ELP4_HUMAN Homo sapiens elongation protein 4 homolog (S. cerevisiae) (ELP4), mRNA. 1 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|cytoplasm|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) GCTCTAAGATGGCGGCAGTGG 0.592000 33 6 0 0 0.00116845 0 0 FOCAD 54914 broad.mit.edu 37 9 20990133 20990133 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:20990133C>T uc003zog.1 + 43 5379 c.5016C>T c.(5014-5016)ttC>ttT p.F1672F FOCAD_uc003zoh.1_Silent_p.F1108F NM_017794 NP_060264 Q5VW36 K1797_HUMAN Homo sapiens KIAA1797 (KIAA1797), mRNA. 1672 integral to membrane binding CTTTGGACTTCTTCTTGCTGA 0.478000 21 40 0 0 0.000781405 0 0 NOS1AP 9722 broad.mit.edu 37 1 162325117 162325117 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:162325117G>A uc001gbv.2 + 6 1123 c.736G>A c.(736-738)Gaa>Aaa p.E246K NOS1AP_uc010pkr.1_Missense_Mutation_p.E241K|NOS1AP_uc001gbw.2_Missense_Mutation_p.E241K|NOS1AP_uc010pks.1_Non-coding_Transcript NM_014697 NP_055512 O75052 CAPON_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA. 246 regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity PDZ domain binding|nitric-oxide synthase binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) TGTAGGGAAGGAAGGAGGCTC 0.557000 92 24 0 0 0.000878237 0 0 FAM104A 84923 broad.mit.edu 37 17 71228278 71228278 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:71228278C>T uc002jjj.4 - 0 256 c.168G>A c.(166-168)gcG>gcA p.A56A FAM104A_uc002jji.4_Silent_p.A56A|C17orf80_uc010wqu.1_5'Flank|C17orf80_uc010dfj.3_5'Flank|C17orf80_uc002jjk.1_5'Flank|C17orf80_uc002jjm.4_5'Flank|C17orf80_uc002jjl.4_5'Flank NM_001098832 NP_001092302 Q969W3 F104A_HUMAN Homo sapiens family with sequence similarity 104, member A (FAM104A), transcript variant 1, mRNA. 56 endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 LUSC - Lung squamous cell carcinoma(166;0.197) TACGCGGCGCCGCTCCGCGAA 0.701000 20 8 0 0 0.000442599 0 0 FZR1 51343 broad.mit.edu 37 19 3527749 3527749 + Silent SNP C A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:3527749C>A uc010dtk.2 + 5 625 c.591C>A c.(589-591)tcC>tcA p.S197S FZR1_uc002lxt.2_Silent_p.S197S|FZR1_uc002lxv.2_Intron NM_001136198 NP_001129670 Q9UM11 FZR_HUMAN Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA. 197 DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm protein binding endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) ACTGGTCGTCCCTCAATGTGC 0.632000 26 12 4.3838e-07 2.9377e-06 0.000151284 1 0 NELL1 4745 broad.mit.edu 37 11 20869158 20869158 + Missense_Mutation SNP G T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:20869158G>T uc009yid.3 + 4 602 c.449G>T c.(448-450)aGg>aTg p.R150M NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Missense_Mutation_p.R122M|NELL1_uc001mqf.3_Missense_Mutation_p.R122M|NELL1_uc010rdo.2_Intron NM_006157 NP_006148 Q92832 NELL1_HUMAN Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA. 122 TSP N-terminal. 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 AGTGGCCTGAGGGATGAGATT 0.448000 21 6 0.000442599 0.00294284 0.000442599 1 0 ZNF831 128611 broad.mit.edu 37 20 57766753 57766753 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:57766753G>A uc002yan.3 + 0 679 c.679G>A c.(679-681)Gag>Aag p.E227K NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 227 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) CCCCAGACCAGAGGGCAGGGG 0.692000 43 15 0 0 0.000308642 0 0 METTL17 64745 broad.mit.edu 37 14 21463363 21463363 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:21463363C>T uc001vyo.3 + 9 1113 c.916C>T c.(916-918)Ctc>Ttc p.L306F METTL17_uc001vym.3_Missense_Mutation_p.L306F|METTL17_uc001vyn.3_Missense_Mutation_p.L306F NM_001029991 NP_001025162 Q9H7H0 MET17_HUMAN Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA. 306 translation mitochondrion|ribosome copper ion binding|methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 GCACAGCCTTCTCATGGATGC 0.448000 137 71 0 0 0.000781405 0 0 PIGO 84720 broad.mit.edu 37 9 35095429 35095429 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:35095429G>A uc003zwd.3 - 1 530 c.134C>T c.(133-135)cCa>cTa p.P45L PIGO_uc003zwe.3_Missense_Mutation_p.P45L|PIGO_uc003zwf.3_Missense_Mutation_p.P45L|PIGO_uc003zwc.1_Missense_Mutation_p.P45L|PIGO_uc003zwg.2_5'UTR NM_032634 NP_116023 Q8TEQ8 PIGO_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA. 45 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CCCAGGGCCTGGGGGCTCTTG 0.607000 6 20 0 0 0.000295444 0 0 CBLC 23624 broad.mit.edu 37 19 45284596 45284596 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:45284596C>T uc002ozs.3 + 2 696 c.633C>T c.(631-633)ttC>ttT p.F211F CBLC_uc010ejt.3_Silent_p.F211F NM_012116 NP_036248 Q9ULV8 CBLC_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA. 211 Cbl-PTB.|EF-hand-like. cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) TCTTCGAGTTCGACGTCTTCA 0.612000 M AML 237 67 0 0 0.000781405 0 0 MYO9A 4649 broad.mit.edu 37 15 72227785 72227785 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:72227785G>A uc002atl.4 - 16 2892 c.2419C>T c.(2419-2421)Cgc>Tgc p.R807C MYO9A_uc010biq.3_Missense_Mutation_p.R427C|MYO9A_uc002atn.1_Missense_Mutation_p.R788C NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN Homo sapiens myosin IXA (MYO9A), mRNA. 807 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 CTGCTCTGGCGAATCCCAGTT 0.388000 29 64 0 0 0.000781405 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962567 69962567 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:69962567C>T uc003heg.4 + 0 375 c.329C>T c.(328-330)tCa>tTa p.S110L UGT2B7_uc010ihq.3_Missense_Mutation_p.S110L NM_001074 NP_001065 P16662 UD2B7_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA. 110 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TTATATTTTTCACAAGTACAG 0.303000 31 14 0 0 0.000219431 0 0 ANKRD50 57182 broad.mit.edu 37 4 125631414 125631414 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:125631414C>T uc010inw.3 - 1 1291 c.253G>A c.(253-255)Gcc>Acc p.A85T ANKRD50_uc011cgo.2_Intron NM_020337 NP_001161354 Q9ULJ7 ANR50_HUMAN Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA. 85 p.T84R(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 GTACATAGGGCCGTCTTGCCA 0.502000 39 11 0 0 0.000151284 0 0 TUT1 64852 broad.mit.edu 37 11 62343079 62343079 + Silent SNP G T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:62343079G>T uc001nto.2 - 8 2264 c.2226C>A c.(2224-2226)gcC>gcA p.A742A EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank NM_022830 NP_073741 Q9H6E5 STPAP_HUMAN Homo sapiens terminal uridylyl transferase 1, U6 snRNA-specific (TUT1), mRNA. 704 mRNA cleavage|mRNA polyadenylation|snRNA processing nuclear speck|nucleolus ATP binding|RNA uridylyltransferase activity|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 GGCTCTGCATGGCCCAGTCCT 0.637000 213 9 0.000442599 0.00294284 0.000442599 1 0 ACVR2A 92 broad.mit.edu 37 2 148657389 148657389 + Missense_Mutation SNP T G G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:148657389T>G uc002twg.3 + 4 719 c.450T>G c.(448-450)atT>atG p.I150M ACVR2A_uc010zbn.2_Missense_Mutation_p.I42M|ACVR2A_uc002twh.3_Missense_Mutation_p.I150M NM_001616 NP_001607 P27037 AVR2A_HUMAN Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA. 150 BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) TTATGTTAATTGCGGGGATTG 0.438000 106 69 0 0 0.000781405 0 0 FAM5B 57795 broad.mit.edu 37 1 177226401 177226401 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:177226401G>A uc001glf.3 + 3 862 c.550G>A c.(550-552)Ggg>Agg p.G184R FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_Missense_Mutation_p.G79R NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA. 184 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CGGGGGCAGTGGGAACAGCAC 0.552000 38 26 0 0 0.00106085 0 0 FLRT3 23767 broad.mit.edu 37 20 14306629 14306629 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:14306629G>A uc021war.1 - 0 1524 c.1524C>T c.(1522-1524)aaC>aaT p.N508N MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Silent_p.N508N|FLRT3_uc002wow.2_Silent_p.N508N NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA. 508 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) TGGTTGTAGGGTTGTACATTC 0.458000 70 42 0 0 0.000509022 0 0 KDELR3 11015 broad.mit.edu 37 22 38870562 38870562 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr22:38870562C>T uc003avu.3 + 1 282 c.126C>T c.(124-126)ctC>ctT p.L42L KDELR3_uc003avv.3_Silent_p.L42L NM_016657 NP_057839 O43731 ERD23_HUMAN Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 (KDELR3), transcript variant 2, mRNA. 42 L -> P (in Ref. 4; BAD96650). protein retention in ER lumen|protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane ER retention sequence binding|receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1) 13 Melanoma(58;0.0286) TGTTTGCTCTCGTCTTCACCA 0.552000 53 46 0 0 0.000781405 0 0 UNC5C 8633 broad.mit.edu 37 4 96137290 96137290 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:96137290C>T uc003hto.3 - 9 2071 c.1718G>A c.(1717-1719)aGg>aAg p.R573K UNC5C_uc010ilc.2_Missense_Mutation_p.R592K|UNC5C_uc003htq.3_Missense_Mutation_p.R592K NM_003728 NP_003719 O95185 UNC5C_HUMAN Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA. 573 ZU5. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) AGTTTCTTTCCTGTGTACAGT 0.418000 39 11 0 0 0.000978159 0 0 GCFC2 6936 broad.mit.edu 37 2 75929487 75929487 + Nonsense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:75929487G>A uc002sno.3 - 2 587 c.457C>T c.(457-459)Caa>Taa p.Q153* GCFC2_uc010ffs.3_5'Flank|GCFC2_uc002snn.3_5'UTR|GCFC2_uc010fft.3_5'UTR|GCFC2_uc002snp.4_Nonsense_Mutation_p.Q153* NM_003203 NP_001188263 P16383 GCF_HUMAN Homo sapiens GC-rich sequence DNA-binding factor 2 (GCFC2), transcript variant 1, mRNA. 153 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TAGTCATCTTGGGCCCTGGCC 0.458000 37 28 0 0 0.000878237 0 0 ARMC2 84071 broad.mit.edu 37 6 109225519 109225519 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:109225519G>A uc003pss.4 + 7 1108 c.934G>A c.(934-936)Gga>Aga p.G312R ARMC2_uc011eao.2_Missense_Mutation_p.G147R NM_032131 NP_115507 Q8NEN0 ARMC2_HUMAN Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA. 312 binding endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1) 24 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) TAAATTTAAGGGAAGAAGTAT 0.383000 87 55 0 0 0.000781405 0 0 CDK18 5129 broad.mit.edu 37 1 205493436 205493436 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:205493436G>A uc001hcr.3 + 3 702 c.440G>A c.(439-441)aGc>aAc p.S147N CDK18_uc009xbl.2_Non-coding_Transcript|CDK18_uc010pri.2_Silent_p.E137E|CDK18_uc001hcp.3_Missense_Mutation_p.S117N|CDK18_uc001hcq.3_Missense_Mutation_p.S117N|CDK18_uc010prj.2_Missense_Mutation_p.S28N|CDK18_uc001hcs.3_Missense_Mutation_p.S28N|CDK18_uc009xbm.1_Missense_Mutation_p.S28N NM_212503 NP_997668 Q07002 CDK18_HUMAN Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA. 115 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 CAGATGGAGAGCCCAGATCTG 0.617000 OREG0014156 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 102 21 0 0 0.000586117 0 0 CNPPD1 27013 broad.mit.edu 37 2 220038173 220038173 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:220038173C>T uc002vju.4 - 6 741 c.589G>A c.(589-591)Gga>Aga p.G197R CNPPD1_uc002vjv.3_Missense_Mutation_p.G197R NM_015680 NP_056495 Q9BV87 CNPD1_HUMAN Homo sapiens cyclin Pas1/PHO80 domain containing 1 (CNPPD1), mRNA. 197 regulation of cyclin-dependent protein kinase activity integral to membrane protein kinase binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 12 CGCCACCGTCCCTGCTGCTCA 0.617000 24 16 0 0 0.000308642 0 0 TPTE 7179 broad.mit.edu 37 21 10952951 10952951 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr21:10952951C>T uc002yip.1 - 8 614 c.246G>A c.(244-246)aaG>aaA p.K82K TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.K64K|TPTE_uc002yir.1_Silent_p.K44K|TPTE_uc010gkv.1_5'UTR NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 82 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.F82L(1) 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) GCACAATTTTCTTAATCTTGC 0.308000 61 10 0 0 0.00136819 0 0 CYLC2 1539 broad.mit.edu 37 9 105767007 105767007 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:105767007C>T uc004bbs.2 + 3 281 c.211C>T c.(211-213)Cgt>Tgt p.R71C NM_001340 NP_001331 Q14093 CYLC2_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA. 71 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton p.R71C(4) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) AAGAGGAGATCGTAGACAACC 0.363000 15 22 0 0 0.000586117 0 0 TPO 7173 broad.mit.edu 37 2 1497795 1497795 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:1497795C>T uc002qwr.3 + 10 2076 c.1990C>T c.(1990-1992)Ctg>Ttg p.L664L TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Silent_p.L664L|TPO_uc002qwx.3_Silent_p.L607L|TPO_uc002qwu.3_Silent_p.L607L|TPO_uc010yio.2_Silent_p.L491L|TPO_uc010yip.2_Silent_p.L664L|TPO_uc002qwy.1_Silent_p.L4L|TPO_uc002qwz.3_Non-coding_Transcript NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 664 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GATGAAGGCTCTGCGGGACGG 0.582000 30 10 0 0 0.00136819 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77331198 77331198 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:77331198G>A uc002ffc.4 - 17 3208 c.2789C>T c.(2788-2790)tCc>tTc p.S930F ADAMTS18_uc010chc.1_Missense_Mutation_p.S518F|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S626F NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 930 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 AGCCGGGCAGGAGAAAGCGTT 0.403000 40 25 0 0 0.000878237 0 0 CD5L 922 broad.mit.edu 37 1 157805893 157805893 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:157805893C>T uc001frk.4 - 2 251 c.108G>A c.(106-108)cgG>cgA p.R36R NM_005894 NP_005885 O43866 CD5L_HUMAN Homo sapiens CD5 molecule-like (CD5L), mRNA. 36 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity p.R36W(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCACCTCCACCCGCCCTTCAC 0.632000 58 21 0 0 0.00152264 0 0 OR9A4 130075 broad.mit.edu 37 7 141618751 141618751 + Missense_Mutation SNP C A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:141618751C>A uc003vwu.1 + 0 76 c.76C>A c.(76-78)Ctt>Att p.L26I NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA. 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) ACATCATATCCTTTTTGCTAT 0.393000 279 9 0.000673444 0.00444995 0.000673444 1 0 HHLA2 11148 broad.mit.edu 37 3 108076967 108076967 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:108076967C>T uc003dwz.3 + 5 1376 c.962C>T c.(961-963)tCg>tTg p.S321L HHLA2_uc011bhl.2_Missense_Mutation_p.S257L|HHLA2_uc010hpu.3_Missense_Mutation_p.S321L|HHLA2_uc003dwy.4_Missense_Mutation_p.S321L NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA. 321 Ig-like V-type 2. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 AATATTTCTTCGGATGAATAT 0.368000 33 14 0 0 0.000151284 0 0 FAT4 79633 broad.mit.edu 37 4 126336328 126336328 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:126336328C>T uc003ifj.4 + 4 6210 c.6210C>T c.(6208-6210)ttC>ttT p.F2070F FAT4_uc011cgp.2_Silent_p.F368F NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 2070 Cadherin 20. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTGTTGTTTTCAAAGCTCAAG 0.393000 78 53 0 0 0.000781405 0 0 GOLGA6C 653641 broad.mit.edu 37 15 75562412 75562412 + Splice_Site SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:75562412G>A uc002azs.2 + 18 1996 c.1955_splice c.e18-1 p.D652_splice DQ582071_uc002azu.1_5'Flank|DQ577530_uc010ulz.1_5'Flank NM_001164404 NP_001157876 A6NDK9 GOG6C_HUMAN Homo sapiens golgin A6 family, member C (GOLGA6C), mRNA. 652 ovary(1) 1 TCTCTCCGAAGATTTTTATGA 0.637000 51 8 0 0 0.000878237 0 0 IVD 3712 broad.mit.edu 37 15 40705279 40705279 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:40705279G>A uc001zls.3 + 6 1120 c.786G>A c.(784-786)aaG>aaA p.K262K IVD_uc001zlq.2_Silent_p.K232K|IVD_uc001zlr.2_5'Flank NM_002225 NP_002216 P26440 IVD_HUMAN Homo sapiens isovaleryl-CoA dehydrogenase (IVD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 259 leucine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity kidney(1)|lung(5)|ovary(2)|prostate(1) 9 all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808) AAGACTGCAAGATTCCTGGTA 0.527000 38 11 0 0 0.000978159 0 0 RADIL 55698 broad.mit.edu 37 7 4917240 4917240 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:4917240C>T uc003snj.1 - 1 704 c.531G>A c.(529-531)acG>acA p.T177T RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc011jwd.1_Non-coding_Transcript NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Homo sapiens Ras association and DIL domains (RADIL), mRNA. 177 cell adhesion|multicellular organismal development|signal transduction protein binding p.T177I(2) NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CCTCACCTGCCGTGATGGTGT 0.612000 47 11 0 0 0.000219431 0 0 TMEM132E 124842 broad.mit.edu 37 17 32963172 32963172 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:32963172C>T uc002hif.3 + 8 2182 c.1854C>T c.(1852-1854)atC>atT p.I618I NM_207313 NP_997196 Q6IEE7 T132E_HUMAN Homo sapiens transmembrane protein 132E (TMEM132E), mRNA. 618 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) GCCACACCATCCTAGCCACCA 0.622000 12 10 0 0 0.000151284 0 0 IRAK2 3656 broad.mit.edu 37 3 10280549 10280549 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:10280549G>A uc003bve.1 + 11 1667 c.1591G>A c.(1591-1593)Gac>Aac p.D531N NM_001570 NP_001561 O43187 IRAK2_HUMAN Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA. 531 I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity p.D531N(3) breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 GGAAACAGACGACGTTGACAA 0.597000 36 18 0 0 0.000229342 0 0 ANKS1B 56899 broad.mit.edu 37 12 100200442 100200442 + Nonsense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:100200442G>A uc001tge.2 - 3 826 c.409C>T c.(409-411)Caa>Taa p.Q137* ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Nonsense_Mutation_p.Q137* NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA. 137 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TGTCCATATTGAGCTGCACAG 0.383000 36 15 0 0 0.000958276 0 0 CAMK2G 818 broad.mit.edu 37 10 75608802 75608802 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:75608802G>A uc001jvv.2 - 6 592 c.462C>T c.(460-462)atC>atT p.I154I CAMK2G_uc001jvs.2_Silent_p.I162I|CAMK2G_uc001jvm.2_Silent_p.I162I|CAMK2G_uc001jvo.2_Silent_p.I162I|CAMK2G_uc001jvp.2_Silent_p.I162I|CAMK2G_uc001jvq.2_Silent_p.I162I|CAMK2G_uc001jvr.2_Silent_p.I162I|CAMK2G_uc001jvt.2_Non-coding_Transcript|CAMK2G_uc010qkv.2_Intron NM_172171 NP_751911 Q13555 KCC2G_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase II gamma (CAMK2G), transcript variant 1, mRNA. 162 Protein kinase. insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 15 Prostate(51;0.0112) CCTGTACTTCGATGGCTAGGC 0.562000 OREG0020267 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 15 0 0 0.000958276 0 0 abParts 0 broad.mit.edu 37 14 106586249 106586249 + RNA SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:106586249G>A uc021ser.1 - 1811 c.34047C>T abParts_uc001ysv.3_Non-coding_Transcript Parts of antibodies, mostly variable regions. CACGGAGCCTGGATAGTATGT 0.517000 50 27 0 0 0.00106085 0 0 MYH1 4619 broad.mit.edu 37 17 10408497 10408497 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:10408497C>T uc002gmo.3 - 20 2512 c.2418G>A c.(2416-2418)caG>caA p.Q806Q AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 806 IQ. muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CCACCATTTTCTGGTACTCCA 0.428000 45 23 0 0 0.000586117 0 0 DPEP2 64174 broad.mit.edu 37 16 68021586 68021586 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:68021586G>A uc010cey.3 - 9 1448 c.1284C>T c.(1282-1284)tcC>tcT p.S428S DPEP2_uc002eve.3_Silent_p.S428S|DPEP2_uc002evf.3_Non-coding_Transcript NM_022355 NP_071750 Q9H4A9 DPEP2_HUMAN Homo sapiens dipeptidase 2 (DPEP2), mRNA. 428 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) GTGAGAGGTCGGAGTGGCAGG 0.547000 37 28 0 0 0.00178596 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143756 61143756 + RNA SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:61143756G>A uc021wfy.1 - 0 c.127C>T C20orf166-AS1_uc002ycy.3_Non-coding_Transcript|C20orf166-AS1_uc002ycz.2_Non-coding_Transcript Homo sapiens chromosome 20 open reading frame 200, mRNA (cDNA clone MGC:120891 IMAGE:7939701), complete cds. CTTGGCTTCCGAGAAACCGCT 0.667000 76 26 0 0 0.00047179 0 0 EPDR1 54749 broad.mit.edu 37 7 37960619 37960619 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:37960619C>T uc003tfp.3 + 0 457 c.438C>T c.(436-438)acC>acT p.T146T EPDR1_uc003tfq.3_Silent_p.T26T|EPDR1_uc010kxh.3_5'Flank NM_017549 NP_060019 Q9UM22 EPDR1_HUMAN Homo sapiens ependymin related protein 1 (zebrafish) (EPDR1), transcript variant 1, mRNA. 26 cell-matrix adhesion extracellular region calcium ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 GGGCCTGGACCCTGTGCGGCC 0.761000 10 6 0 0 0.00116845 0 0 ACACA 31 broad.mit.edu 37 17 35620751 35620751 + Missense_Mutation SNP G C C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:35620751G>C uc002hnm.3 - 10 1246 c.1055C>G c.(1054-1056)gCc>gGc p.A352G ACACA_uc002hnk.3_Missense_Mutation_p.A274G|ACACA_uc002hnl.3_Missense_Mutation_p.A294G|ACACA_uc002hnn.3_Missense_Mutation_p.A352G|ACACA_uc002hno.3_Missense_Mutation_p.A389G|ACACA_uc010cuz.3_Missense_Mutation_p.A352G NM_198836 NP_942135 Q13085 ACACA_HUMAN Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA. 352 ATP-grasp.|Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) AGATTGTTTGGCTAGTCTCAT 0.398000 36 32 0 0 0.000692331 0 0 ERMAP 114625 broad.mit.edu 37 1 43296563 43296563 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:43296563C>T uc001cic.1 + 3 480 c.210C>T c.(208-210)ttC>ttT p.F70F ERMAP_uc010ojw.1_Silent_p.F131F|ERMAP_uc001cid.1_Intron|ERMAP_uc001cie.1_Silent_p.F70F|ERMAP_uc001cif.1_5'UTR NM_001017922 NP_061008 Q96PL5 ERMAP_HUMAN Homo sapiens erythroblast membrane-associated protein (Scianna blood group) (ERMAP), transcript variant 1, mRNA. 70 Ig-like V-type. integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGTCCCCATTCCCGCAGCGCT 0.622000 7 9 0 0 0.000673444 0 0 TRIML2 205860 broad.mit.edu 37 4 189022313 189022313 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:189022313C>T uc011cle.1 - 2 599 c.377G>A c.(376-378)aGa>aAa p.R126K TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Missense_Mutation_p.R76K|TRIML2_uc011clf.1_Missense_Mutation_p.R126K NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA. 76 ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TTCCTGCTGTCTCTGGAGATT 0.428000 22 31 0 0 0.00058488 0 0 LILRB1 10859 broad.mit.edu 37 19 55143633 55143633 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:55143633G>A uc002qgj.3 + 5 946 c.606G>A c.(604-606)tcG>tcA p.S202S LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.S202S|LILRB1_uc002qgk.3_Silent_p.S202S|LILRB1_uc002qgm.3_Silent_p.S202S|LILRB1_uc010erq.3_Silent_p.S202S|LILRB1_uc010err.3_Non-coding_Transcript NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA. 202 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CTTATGACTCGAACTCTCCCT 0.602000 HNSCC(37;0.09) 61 17 0 0 0.00121646 0 0 B3GNT1 11041 broad.mit.edu 37 11 66113990 66113990 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:66113990G>A uc001ohr.3 - 0 1172 c.1027C>T c.(1027-1029)Cgg>Tgg p.R343W BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank|TRNA_Ser_uc021qlw.1_5'Flank NM_006876 NP_006867 O43505 B3GN1_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1), mRNA. 343 poly-N-acetyllactosamine biosynthetic process integral to Golgi membrane N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1) 12 CCGTACTGCCGAAAGCGCTCG 0.622000 33 23 0 0 0.000878237 0 0 OR5M10 390167 broad.mit.edu 37 11 56344979 56344979 + Silent SNP A G G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:56344979A>G uc001niz.1 - 0 219 c.219T>C c.(217-219)taT>taC p.Y73Y OR8U8_uc001nit.2_Intron NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA. 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 CATTGGAAGAATAGCAAATGT 0.463000 62 19 0 0 0.00121646 0 0 PNMA2 10687 broad.mit.edu 37 8 26365944 26365944 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:26365944G>A uc022atc.1 - 0 328 c.328C>T c.(328-330)Cta>Tta p.L110L PNMA2_uc003xez.2_Silent_p.L110L NM_007257 NP_009188 Q9UL42 PNMA2_HUMAN Homo sapiens paraneoplastic antigen MA2 (PNMA2), mRNA. 110 apoptosis nucleolus protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3) 11 all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105) UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123) tctttttctagaaacaggttc 0.542000 44 9 0 0 0.000274275 0 0 LRRK2 120892 broad.mit.edu 37 12 40704392 40704392 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:40704392G>A uc001rmg.4 + 30 4598 c.4477G>A c.(4477-4479)Gaa>Aaa p.E1493K LRRK2_uc009zjw.3_Missense_Mutation_p.E331K|LRRK2_uc001rmi.3_Missense_Mutation_p.E326K NM_198578 NP_940980 Q5S007 LRRK2_HUMAN Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA. 1493 Roc. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding p.E1493E(1) NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TGCCACCGAGGAATCTGATGC 0.428000 222 72 0 0 0.000781405 0 0 DNAH5 1767 broad.mit.edu 37 5 13714555 13714555 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:13714555C>T uc003jfd.2 - 74 13126 c.13084G>A c.(13084-13086)Gat>Aat p.D4362N DNAH5_uc003jfc.2_Missense_Mutation_p.D530N NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4362 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCCAGCATATCATCAGCCAGC 0.572000 Kartagener syndrome 45 30 0 0 0.000692331 0 0 SYNJ2 8871 broad.mit.edu 37 6 158505156 158505156 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:158505156C>T uc003qqx.2 + 21 3264 c.3158C>T c.(3157-3159)cCc>cTc p.P1053L SYNJ2_uc003qqw.2_Missense_Mutation_p.P1053L|SYNJ2_uc003qqy.2_Missense_Mutation_p.P816L|SYNJ2_uc003qqz.2_Missense_Mutation_p.P670L|SYNJ2_uc003qra.2_Missense_Mutation_p.P396L NM_003898 NP_001171559 O15056 SYNJ2_HUMAN Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA. 1053 RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CTGGCTCCTCCCAGCAAGTCA 0.557000 82 30 0 0 0.000409698 0 0 SLC22A1 6580 broad.mit.edu 37 6 160557602 160557602 + Silent SNP C G G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:160557602C>G uc003qtc.3 + 5 1086 c.981C>G c.(979-981)acC>acG p.T327T SLC22A1_uc003qtd.3_Silent_p.T327T NM_003057 NP_003048 O15245 S22A1_HUMAN Homo sapiens solute carrier family 22 (organic cation transporter), member 1 (SLC22A1), transcript variant 1, mRNA. 327 basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding SLC22A1/CUTA(2) breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1) 21 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) AGGATGTCACCGAAAAGCTGA 0.607000 57 21 0 0 0.000295444 0 0 C1QTNF1 114897 broad.mit.edu 37 17 77039962 77039962 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:77039962C>T uc002jwt.3 + 0 288 c.206C>T c.(205-207)cCc>cTc p.P69L C1QTNF1_uc002jwp.3_Intron|C1QTNF1_uc002jwq.3_Intron|C1QTNF1_uc002jwr.4_Intron|C1QTNF1_uc002jws.3_Intron NM_198594 NP_940996 Q9BXJ1 C1QT1_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA. 0 collagen breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2) 14 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) TGTTTCTCTCCCCAATTTTCA 0.562000 17 16 0 0 0.000422831 0 0 CABP1 9478 broad.mit.edu 37 12 121098114 121098114 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:121098114C>T uc001tyu.3 + 2 868 c.801C>T c.(799-801)atC>atT p.I267I CABP1_uc001tyv.3_Silent_p.I124I|CABP1_uc001tyw.3_Silent_p.I64I|CABP1_uc001tyx.3_Silent_p.I109I NM_001033677 NP_001028849 Q9NZU7 CABP1_HUMAN Homo sapiens calcium binding protein 1 (CABP1), transcript variant 3, mRNA. 267 EF-hand 2. Golgi apparatus|cell cortex|cell junction|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGGAGCTCATCGAACTGTCCC 0.567000 138 104 0 0 0.000781405 0 0 CA5A 763 broad.mit.edu 37 16 87938439 87938439 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:87938439C>T uc002fkn.1 - 2 468 c.412G>A c.(412-414)Gag>Aag p.E138K NM_001739 NP_001730 P35218 CAH5A_HUMAN Homo sapiens carbonic anhydrase VA, mitochondrial (CA5A), nuclear gene encoding mitochondrial protein, mRNA. 138 one-carbon metabolic process mitochondrial matrix carbonate dehydratase activity|zinc ion binding large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(80;0.0513) GAGCCCCCCTCGTTCACTGCT 0.547000 50 15 0 0 0.000308642 0 0 PLA2R1 22925 broad.mit.edu 37 2 160798644 160798644 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:160798644C>T uc002ube.2 - 28 4383 c.4171G>A c.(4171-4173)Gaa>Aaa p.E1391K PLA2R1_uc010zcp.2_Missense_Mutation_p.E1389K NM_007366 NP_031392 Q13018 PLA2R_HUMAN Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA. 1391 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding p.P1390A(1) PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 GTACCTTTTTCTGGCAGCGCC 0.308000 45 20 0 0 0.000586117 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 118839 118839 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrGL000209.1:118839C>T uc010yie.2 + 2 327 c.316C>T c.(316-318)Cac>Tac p.H106Y KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.H103Y|KIR2DL2_uc002qum.3_Missense_Mutation_p.H106Y NM_014512 NP_055327 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA. 106 Ig-like C2-type 1. regulation of immune response integral to membrane|plasma membrane receptor activity TTCTGTTACTCACTCCCCCTA 0.512000 135 46 0 0 0.000781405 0 0 OPN5 221391 broad.mit.edu 37 6 47754302 47754302 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:47754302G>A uc003ozc.3 + 1 210 c.182G>A c.(181-183)cGa>cAa p.R61Q OPN5_uc003ozd.3_5'Flank NM_181744 NP_859528 Q6U736 OPN5_HUMAN Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA. 61 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 TCTTCTAGACGAAAGAAGAAG 0.378000 45 27 0 0 0.000586117 0 0 PMFBP1 83449 broad.mit.edu 37 16 72184683 72184683 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:72184683C>T uc002fcc.4 - 4 632 c.460G>A c.(460-462)Ggg>Agg p.G154R PMFBP1_uc002fcd.3_Missense_Mutation_p.G154R|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.G9R NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 154 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) AGCTTCTCCCCTGTGTTCTCG 0.493000 45 36 0 0 0.00170553 0 0 OR5AU1 390445 broad.mit.edu 37 14 21623513 21623513 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:21623513G>A uc010tlp.2 - 0 672 c.672C>T c.(670-672)gtC>gtT p.V224V NM_001004731 NP_001004731 Q8NGC0 O5AU1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA. 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) AGTGAGTGACGACATGAGCAC 0.488000 29 23 0 0 0.000720815 0 0 WNK3 65267 broad.mit.edu 37 X 54263502 54263502 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:54263502G>A uc004dtc.2 - 19 4936 c.4497C>T c.(4495-4497)caC>caT p.H1499H WNK3_uc004dtd.2_Silent_p.H1452H NM_020922 NP_065973 Q9BYP7 WNK3_HUMAN Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA. 1452 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 GTTCTTCGTGGTGTGGTAAGC 0.458000 28 76 0 0 0.000781405 0 0 TNIP2 79155 broad.mit.edu 37 4 2746636 2746636 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:2746636C>T uc003gfg.2 - 3 781 c.694G>A c.(694-696)Gcc>Acc p.A232T TNIP2_uc003gff.2_Missense_Mutation_p.A125T NM_024309 NP_001154999 Q8NFZ5 TNIP2_HUMAN Homo sapiens TNFAIP3 interacting protein 2 (TNIP2), transcript variant 1, mRNA. 232 cytosol protein binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TCCCTGCTGGCGTTGTAGCGC 0.612000 29 14 0 0 0.000219431 0 0 TRPV6 55503 broad.mit.edu 37 7 142569553 142569553 + Nonsense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:142569553C>T uc003wbx.2 - 14 2314 c.2085G>A c.(2083-2085)tgG>tgA p.W695* TRPV6_uc003wbw.1_Nonsense_Mutation_p.W481*|TRPV6_uc010lou.1_Nonsense_Mutation_p.W566* NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA. 695 Interaction with calmodulin. regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) GAAGCCTTTCCCAATTGGCAC 0.577000 55 43 0 0 0.000374591 0 0 SLC13A3 64849 broad.mit.edu 37 20 45242182 45242182 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:45242182G>A uc002xsf.2 - 1 334 c.294C>T c.(292-294)atC>atT p.I98I SLC13A3_uc010ghn.2_Silent_p.I67I|SLC13A3_uc010zxx.2_5'UTR|SLC13A3_uc010zxw.2_Silent_p.I98I|SLC13A3_uc002xsg.2_Silent_p.I51I|SLC13A3_uc010gho.2_Silent_p.I51I|SLC13A3_uc002xsi.4_Silent_p.I51I NM_022829 NP_073740 Q8WWT9 S13A3_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA. 98 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) CGCTGGCCATGATCAGCCCAC 0.577000 28 8 0 0 0.000157383 0 0 JPH3 57338 broad.mit.edu 37 16 87677904 87677904 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:87677904C>T uc002fkd.3 + 1 677 c.423C>T c.(421-423)ggC>ggT p.G141G JPH3_uc010vou.1_Non-coding_Transcript NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN Homo sapiens junctophilin 3 (JPH3), mRNA. 141 Gly-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) TGCGCCAGGGCTACGGCGTCC 0.677000 32 26 0 0 0.00127121 0 0 SLC17A1 6568 broad.mit.edu 37 6 25799114 25799114 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:25799114G>A uc003nfh.4 - 11 1419 c.1303C>T c.(1303-1305)Ctg>Ttg p.L435L SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Silent_p.L435L|SLC17A1_uc010jqc.1_Silent_p.L379L NM_005074 NP_005065 Q14916 NPT1_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA. 435 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 GCTGCCATCAGGATGAAGGTT 0.358000 34 16 0 0 0.000422831 0 0 BX648926 0 broad.mit.edu 37 17 72305577 72305577 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:72305577C>T uc002jkh.1 - 0 353 c.158G>A c.(157-159)gGa>gAa p.G53E DNAI2_uc002jkg.3_Intron|DNAI2_uc002jkf.3_Intron|DNAI2_uc010dfp.3_Intron|DNAI2_uc002jki.3_Intron Homo sapiens mRNA; cDNA DKFZp686O0329 (from clone DKFZp686O0329). GGAGCCAGGTCCCGGCGTGGG 0.622000 11 6 0 0 0.00116845 0 0 LYZ 4069 broad.mit.edu 37 12 69746970 69746970 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:69746970C>T uc001suw.2 + 3 473 c.418C>T c.(418-420)Cgt>Tgt p.R140C LYZ_uc021ral.1_5'Flank NM_000239 NP_000230 P61626 LYSC_HUMAN Homo sapiens lysozyme (LYZ), mRNA. 140 cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response extracellular space lysozyme activity|protein binding p.R140S(4) endometrium(2)|lung(1)|upper_aerodigestive_tract(1) 4 all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187) Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) CAGAGATGTCCGTCAGTATGT 0.378000 84 21 0 0 0.000720815 0 0 GRIK3 2899 broad.mit.edu 37 1 37267569 37267569 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:37267569C>T uc001caz.2 - 15 2778 c.2643G>A c.(2641-2643)caG>caA p.Q881Q NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 881 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TCATGGGAGGCTGAGGCTTGT 0.592000 9 10 0 0 0.000673444 0 0 SAMD9L 219285 broad.mit.edu 37 7 92764132 92764132 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:92764132C>T uc003umh.1 - 4 2369 c.1153G>A c.(1153-1155)Gga>Aga p.G385R SAMD9L_uc003umj.1_Missense_Mutation_p.G385R|SAMD9L_uc003umi.1_Missense_Mutation_p.G385R|SAMD9L_uc010lfb.1_Missense_Mutation_p.G385R|SAMD9L_uc003umk.1_Missense_Mutation_p.G385R|SAMD9L_uc010lfc.1_Missense_Mutation_p.G385R|SAMD9L_uc010lfd.1_Missense_Mutation_p.G385R|SAMD9L_uc022ahh.1_Missense_Mutation_p.G385R NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 385 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) GCCTTCATTCCATACTCTTCT 0.393000 180 68 0 0 0.000781405 0 0 MRPS31 10240 broad.mit.edu 37 13 41345346 41345346 + Splice_Site SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr13:41345346C>T uc001uxm.4 - 1 1 c.-74_splice c.e1-1 NM_005830 NP_005821 Q92665 RT31_HUMAN Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA. mitochondrion|ribosome protein domain specific binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) CCCGCCCTCTCTTCCGCTTCC 0.637000 6 6 0 0 0.00116845 0 0 MBD5 55777 broad.mit.edu 37 2 149247862 149247862 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:149247862C>T uc002twm.4 + 11 4959 c.3962C>T c.(3961-3963)tCc>tTc p.S1321F MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Missense_Mutation_p.S579F|MBD5_uc002twp.3_Missense_Mutation_p.S371F NM_018328 NP_060798 Q9P267 MBD5_HUMAN Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA. 1321 chromosome|nucleus DNA binding|chromatin binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) TCTCCAAGTTCCTCAAATAGT 0.458000 31 17 0 0 0.000422831 0 0 CD86 942 broad.mit.edu 37 3 121774339 121774339 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:121774339G>A uc003eet.3 + 0 131 c.3G>A c.(1-3)atG>atA p.M1I CD86_uc011bjo.2_5'UTR|CD86_uc011bjp.2_Missense_Mutation_p.M1I NM_175862 NP_008820 P42081 CD86_HUMAN Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA. 1 T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) CAGCCAAAATGGATCCCCAGT 0.453000 27 13 0 0 0.000219431 0 0 KCNJ9 3765 broad.mit.edu 37 1 160054185 160054185 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:160054185G>A uc001fuy.1 + 1 607 c.365G>A c.(364-366)gGc>gAc p.G122D NM_004983 NP_004974 Q92806 IRK9_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 9 (KCNJ9), mRNA. 122 synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2) 16 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ACCACCATCGGCTACGGGCAC 0.657000 35 8 0 0 0.000157383 0 0 C22orf29 79680 broad.mit.edu 37 22 19838874 19838874 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr22:19838874G>A uc002zqg.3 - 1 1510 c.911C>T c.(910-912)tCg>tTg p.S304L GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.3_Missense_Mutation_p.S304L|C22orf29_uc002zqi.3_Missense_Mutation_p.S304L|C22orf29_uc021wli.1_Missense_Mutation_p.S304L NM_024627 NP_078903 Q7L3V2 CV029_HUMAN Homo sapiens chromosome 22 open reading frame 29 (C22orf29), mRNA. 304 Pro-rich. NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 7 Colorectal(54;0.0993) AGCTGACTCCGACAGTCTAGG 0.587000 39 15 0 0 0.000308642 0 0 GSTCD 79807 broad.mit.edu 37 4 106766630 106766630 + Nonsense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:106766630C>T uc003hxz.4 + 11 1870 c.1798C>T c.(1798-1800)Cga>Tga p.R600* GSTCD_uc003hxy.4_Nonsense_Mutation_p.R513*|GSTCD_uc011cfb.2_Nonsense_Mutation_p.R223* NM_001031720 NP_001026890 Q8NEC7 GSTCD_HUMAN Homo sapiens glutathione S-transferase, C-terminal domain containing (GSTCD), transcript variant 1, mRNA. 600 cytoplasm rRNA methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 14 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139) GGATCTGGATCGAGCAAGAGC 0.458000 35 12 0 0 0.00136819 0 0 ZNF417 147687 broad.mit.edu 37 19 58420358 58420358 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:58420358G>A uc002qqq.3 - 2 1487 c.1288C>T c.(1288-1290)Cac>Tac p.H430Y ZNF417_uc010yhm.2_Missense_Mutation_p.H387Y|ZNF417_uc002qqr.3_Missense_Mutation_p.H429Y NM_152475 NP_689688 Q8TAU3 ZN417_HUMAN Homo sapiens zinc finger protein 417 (ZNF417), mRNA. 430 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1) 18 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) TCCCCAGTGTGAAGTCTCTGG 0.448000 33 14 0 0 0.000566183 0 0 OR5H2 79310 broad.mit.edu 37 3 98002360 98002360 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:98002360C>T uc003dsj.1 + 0 629 c.629C>T c.(628-630)tCa>tTa p.S210L NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA. 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 TTGTCTGGCTCAATTCAGGTA 0.318000 40 9 0 0 0.000274275 0 0 ZMYND8 23613 broad.mit.edu 37 20 45927622 45927622 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:45927622G>A uc010zxy.1 - 3 407 c.325C>T c.(325-327)Ccg>Tcg p.P109S ZMYND8_uc010ghr.1_Intron|ZMYND8_uc002xst.1_Intron|ZMYND8_uc002xsu.1_Missense_Mutation_p.P82S|ZMYND8_uc002xsv.1_Intron|ZMYND8_uc002xsw.1_5'UTR|ZMYND8_uc002xsx.1_5'UTR|ZMYND8_uc002xsy.1_Intron|ZMYND8_uc002xsz.1_Intron|ZMYND8_uc002xta.1_Missense_Mutation_p.P82S|ZMYND8_uc002xtb.1_Missense_Mutation_p.P102S|ZMYND8_uc002xss.2_Intron|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Missense_Mutation_p.P102S|ZMYND8_uc002xtd.1_Intron|ZMYND8_uc002xte.1_Missense_Mutation_p.P82S|ZMYND8_uc010zya.1_Missense_Mutation_p.P82S|ZMYND8_uc002xtf.1_Missense_Mutation_p.P102S|ZMYND8_uc002xtg.3_Intron|ZMYND8_uc010ghs.2_Intron|ZMYND8_uc002xth.3_Missense_Mutation_p.P102S NM_183047 NP_898868 Q9ULU4 PKCB1_HUMAN Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA. 82 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) CCATCCTGCGGTACAACATCA 0.483000 103 46 0 0 0.000781405 0 0 ZNF679 168417 broad.mit.edu 37 7 63726529 63726529 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:63726529G>A uc003tsx.3 + 4 787 c.518G>A c.(517-519)aGa>aAa p.R173K NM_153363 NP_699194 Q8IYX0 ZN679_HUMAN Homo sapiens zinc finger protein 679 (ZNF679), mRNA. 173 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 AATTCCAATAGACATAAGACA 0.303000 6 5 0 0 0.000602214 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41019027 41019027 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:41019027C>T uc003jmj.4 - 24 3025 c.2535G>A c.(2533-2535)ctG>ctA p.L845L HEATR7B2_uc003jmi.4_Silent_p.L400L NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 845 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 CTTCACTTTTCAGATTTTCCA 0.473000 27 16 0 0 0.000422831 0 0 ANKS1B 56899 broad.mit.edu 37 12 99640266 99640266 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:99640266C>T uc001tge.2 - 12 2550 c.2133G>A c.(2131-2133)gaG>gaA p.E711E ANKS1B_uc001tgf.2_Silent_p.E291E|ANKS1B_uc001tgk.3_Silent_p.E8E|ANKS1B_uc009ztt.1_Silent_p.E677E NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA. 711 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TACAGGCTCTCTCCACAAATC 0.468000 37 12 0 0 0.00136819 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128840253 128840253 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:128840253G>A uc009zcp.3 - 21 4813 c.4813C>T c.(4813-4815)Ccc>Tcc p.P1605S ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.P564S|ARHGAP32_uc001qez.3_Missense_Mutation_p.P1256S NM_001142685 NP_055530 A7KAX9 RHG32_HUMAN Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA. 1605 Interaction with GAB2. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 TCATCTGGGGGAACTTCTGTC 0.532000 47 11 0 0 0.00136819 0 0 XRN2 22803 broad.mit.edu 37 20 21349172 21349172 + Missense_Mutation SNP G C C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:21349172G>C uc002wsf.1 + 26 2623 c.2528G>C c.(2527-2529)gGa>gCa p.G843A XRN2_uc002wsg.1_Missense_Mutation_p.G767A|XRN2_uc010zsk.1_Missense_Mutation_p.G789A NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA. 843 DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 ACTTACCAGGGAAACTTATAC 0.393000 113 41 0 0 0.000509022 0 0 SLC52A3 113278 broad.mit.edu 37 20 742387 742387 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:742387G>A uc002wed.4 - 3 1494 c.1155C>T c.(1153-1155)ccC>ccT p.P385P SLC52A3_uc002wee.2_Silent_p.P385P NM_033409 NP_212134 Q9NQ40 RFT2_HUMAN Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA. 385 sensory perception of sound integral to plasma membrane riboflavin transporter activity AGAGGGGGCAGGGGCTCATCA 0.647000 13 7 0 0 8.12818e-05 0 0 VAT1L 57687 broad.mit.edu 37 16 77918616 77918616 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:77918616C>T uc002ffg.1 + 6 1091 c.994C>T c.(994-996)Cgg>Tgg p.R332W NM_020927 NP_065978 Q9HCJ6 VAT1L_HUMAN Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA. 332 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 GGGCCTCATTCGGGGAGTGGT 0.512000 14 12 0 0 0.00136819 0 0 DAAM2 23500 broad.mit.edu 37 6 39847153 39847153 + Missense_Mutation SNP C T T rs150676991 by1000genomes TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:39847153C>T uc003oow.3 + 13 1884 c.1745C>T c.(1744-1746)cCt>cTt p.P582L DAAM2_uc010jxc.3_Missense_Mutation_p.P582L|DAAM2_uc003oox.3_Missense_Mutation_p.P582L NM_001201427 NP_001188356 Q86T65 DAAM2_HUMAN Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA. 582 FH1.|Pro-rich. actin cytoskeleton organization Rho GTPase binding|actin binding p.L581F(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) CTGCCCCTCCCTCAGGACCCC 0.652000 26 4 0 0 0.000602214 0 0 CBX8 57332 broad.mit.edu 37 17 77768994 77768995 + Missense_Mutation DNP GG AA AA TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:77768994_77768995GG>AA uc002jxd.2 - 4 727_728 c.609_610CC>TT c.(607-612)ccccgg>ccTTgg p.R204W NM_020649 NP_065700 Q9HC52 CBX8_HUMAN Homo sapiens chromobox homolog 8 (CBX8), mRNA. 204 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex|nuclear chromatin methylated histone residue binding breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1) 14 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) AGCTCCTTCCGGGGCTTGGGGC 0.673000 27 9 0 0 6.4e-05 0 0 ABCC8 6833 broad.mit.edu 37 11 17452441 17452441 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:17452441G>A uc001mnc.3 - 11 1863 c.1737C>T c.(1735-1737)tcC>tcT p.S579S ABCC8_uc010rcy.1_Silent_p.S578S NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 579 ABC transmembrane type-1 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGAGGGAGAGGGAGGCAAAGG 0.607000 348 91 0 0 0.000781405 0 0 ATP10A 57194 broad.mit.edu 37 15 26107818 26107818 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:26107818G>A uc010ayu.3 - 0 532 c.426C>T c.(424-426)caC>caT p.H142H ATP10A_uc001zax.3_Non-coding_Transcript NM_024490 NP_077816 O60312 AT10A_HUMAN Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA. 142 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GGCAGCCCAGGTGGTTGATCT 0.692000 9 9 0 0 0.000673444 0 0 MGAT5B 146664 broad.mit.edu 37 17 74868898 74868898 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:74868898C>T uc002jti.3 + 0 170 c.67C>T c.(67-69)Cct>Tct p.P23S MGAT5B_uc002jtg.4_Intron|MGAT5B_uc002jth.3_Intron NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA. 13 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GATGGCCCTTCCTGCCCTCCT 0.567000 29 6 0 0 8.12818e-05 0 0 BTAF1 9044 broad.mit.edu 37 10 93740304 93740304 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:93740304C>T uc001khr.3 + 14 1842 c.1744C>T c.(1744-1746)Ctt>Ttt p.L582F BTAF1_uc001khs.1_Missense_Mutation_p.L252F|BTAF1_uc001kht.1_Missense_Mutation_p.L20F NM_003972 NP_003963 O14981 BTAF1_HUMAN Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA. 582 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) AATTCTGGACCTTATTCACAA 0.353000 38 16 0 0 0.000566183 0 0 PRDM16 63976 broad.mit.edu 37 1 3319548 3319548 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:3319548C>T uc001akf.3 + 5 952 c.870C>T c.(868-870)ttC>ttT p.F290F PRDM16_uc001ake.3_Silent_p.F290F|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Silent_p.F290F NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 290 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) AGCGGATGTTCCCCAACAAGT 0.652000 T EVI1 """MDS, AML""" 11 9 0 0 0.000442599 0 0 KCNN1 3780 broad.mit.edu 37 19 18085944 18085944 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:18085944C>T uc002nht.3 + 3 756 c.446C>T c.(445-447)tCc>tTc p.S149F KCNN1_uc010xqa.1_Missense_Mutation_p.S149F NM_002248 NP_002239 Q92952 KCNN1_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA. 149 synaptic transmission voltage-gated potassium channel complex calmodulin binding|small conductance calcium-activated potassium channel activity endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 8 ATCAGCCTCTCCACGGCCATC 0.597000 44 7 0 0 0.000274275 0 0 NLRC3 197358 broad.mit.edu 37 16 3614061 3614061 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:3614061C>T uc010btn.3 - 4 1288 c.877G>A c.(877-879)Gag>Aag p.E293K NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA. 293 NACHT. I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ACCTTGATCTCCTCCTCGTTA 0.607000 34 9 0 0 0.000274275 0 0 CREB5 9586 broad.mit.edu 37 7 28609991 28609991 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:28609991G>A uc003szq.3 + 4 690 c.300G>A c.(298-300)tcG>tcA p.S100S CREB5_uc003szo.3_Silent_p.S67S|CREB5_uc003szr.3_Silent_p.S93S NM_182898 NP_878902 Q02930 CREB5_HUMAN Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA. 100 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 AGAATATCTCGATGCATAATG 0.517000 236 142 0 0 0.000781405 0 0 CD163L1 283316 broad.mit.edu 37 12 7559384 7559384 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:7559384C>T uc010sge.2 - 4 887 c.861G>A c.(859-861)ctG>ctA p.L287L CD163L1_uc001qsy.3_Silent_p.L277L NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 277 SRCR 3. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CTTGGATTTTCAGCTCTACTC 0.478000 116 49 0 0 0.000781405 0 0 MOGAT2 80168 broad.mit.edu 37 11 75439858 75439858 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:75439858C>T uc010rru.2 + 4 674 c.674C>T c.(673-675)tCc>tTc p.S225F MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.2_Missense_Mutation_p.S143F NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA. 225 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity p.F224L(1) NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 20 Ovarian(111;0.103) CCAATCTTCTCCTTCGGGGAG 0.537000 58 20 0 0 0.000295444 0 0 FAT3 120114 broad.mit.edu 37 11 92573801 92573801 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:92573801C>T uc001pdj.4 + 16 10459 c.10442C>T c.(10441-10443)cCc>cTc p.P3481L FAT3_uc001pdi.4_5'UTR NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 3481 Cadherin 32. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AATGGGCCTCCCTTTTCATTC 0.473000 TCGA Ovarian(4;0.039) 416 112 0 0 0.000781405 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906490 13906490 + Silent SNP G A A rs142203984 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:13906490G>A uc001rbt.2 - 2 950 c.771C>T c.(769-771)atC>atT p.I257I NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 257 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding p.I257I(4) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GACTGGGCACGATCCACGTGT 0.532000 41 40 0 0 0.000589545 0 0 TMEM130 222865 broad.mit.edu 37 7 98445738 98445738 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:98445738G>A uc003upo.3 - 7 1438 c.1249C>T c.(1249-1251)Cgt>Tgt p.R417C TMEM130_uc011kiq.2_Missense_Mutation_p.R386C|TMEM130_uc011kir.2_Missense_Mutation_p.R405C|TMEM130_uc003upn.3_Missense_Mutation_p.R303C NM_001134450 NP_001127922 Q8N3G9 TM130_HUMAN Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA. 417 Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGGTTCTCACGAACAATTTCC 0.567000 53 17 0 0 0.00121646 0 0 TTLL6 284076 broad.mit.edu 37 17 46846537 46846537 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:46846537G>A uc021tzm.1 - 14 2525 c.2490C>T c.(2488-2490)ctC>ctT p.L830L TTLL6_uc002iob.3_Silent_p.L523L|TTLL6_uc010dbi.3_Intron|TTLL6_uc002ioc.3_Silent_p.L583L|TTLL6_uc002iod.3_Intron NM_001130918 NP_001124390 Q8N841 TTLL6_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA. 782 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 TCTGCAAGAGGAGGGAGGACA 0.567000 12 15 0 0 0.000219431 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74880348 74880348 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:74880348C>T uc001owb.3 + 4 974 c.579C>T c.(577-579)ttC>ttT p.F193F SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Silent_p.F49F|SLCO2B1_uc010rrs.2_Silent_p.F77F|SLCO2B1_uc001owc.3_Intron|SLCO2B1_uc001owd.3_Silent_p.F171F NM_007256 NP_001138683 O94956 SO2B1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA. 193 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) GGATCATGTTCGTGGCACAGA 0.612000 31 30 0 0 0.000339439 0 0 EXT1 2131 broad.mit.edu 37 8 118831999 118831999 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:118831999G>A uc003yok.1 - 5 2225 c.1452C>T c.(1450-1452)atC>atT p.I484I NM_000127 NP_000118 Q16394 EXT1_HUMAN Homo sapiens exostosin 1 (EXT1), mRNA. 484 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) TCACCGCATGGATGACTGCAG 0.517000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 43 42 0 0 0.000781405 0 0 ARID5B 84159 broad.mit.edu 37 10 63851334 63851334 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:63851334C>T uc001jlt.2 + 9 2568 c.2112C>T c.(2110-2112)ctC>ctT p.L704L ARID5B_uc001jlu.2_Silent_p.L461L NM_032199 NP_115575 Q14865 ARI5B_HUMAN Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA. 704 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) GGGCCAGCCTCTCCAGCAGCT 0.532000 29 17 0 0 0.00074312 0 0 CILP 8483 broad.mit.edu 37 15 65490866 65490866 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:65490866G>A uc002aon.2 - 8 1939 c.1758C>T c.(1756-1758)atC>atT p.I586I NM_003613 NP_003604 O75339 CILP1_HUMAN Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA. 586 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CCAGGGGGATGATGTTGGTCT 0.507000 44 9 0 0 0.000442599 0 0 C16orf11 146325 broad.mit.edu 37 16 613648 613648 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:613648C>T uc002chk.3 + 1 633 c.354C>T c.(352-354)gtC>gtT p.V118V NM_145270 NP_660313 P0CG20 CP011_HUMAN Homo sapiens chromosome 16 open reading frame 11 (C16orf11), mRNA. 118 Pro-rich. central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 ACCTCGTGGTCGCCGACATCC 0.741000 2 3 0 0 6.4e-05 0 0 NFASC 23114 broad.mit.edu 37 1 204953262 204953262 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:204953262G>A uc010prc.2 + 20 2808 c.1279G>A c.(1279-1281)Gag>Aag p.E427K NFASC_uc001hbj.3_Intron|NFASC_uc010pra.2_Missense_Mutation_p.E856K|NFASC_uc001hbi.3_Missense_Mutation_p.E856K|NFASC_uc010prb.2_Missense_Mutation_p.E871K|NFASC_uc001hbk.1_Missense_Mutation_p.E666K|NFASC_uc001hbl.2_Intron|NFASC_uc001hbm.2_5'Flank O94856 NFASC_HUMAN Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA. 860 axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCAGCTCAGAGAGTACCGAGT 0.552000 30 6 0 0 0.00116845 0 0 CAPN5 726 broad.mit.edu 37 11 76804825 76804825 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:76804825C>T uc009yup.3 + 3 568 c.383C>T c.(382-384)tCg>tTg p.S128L CAPN5_uc001oxx.3_Missense_Mutation_p.S88L|CAPN5_uc009yuq.3_Missense_Mutation_p.S124L|CAPN5_uc001oxy.3_Missense_Mutation_p.S128L NM_004055 NP_004046 O15484 CAN5_HUMAN Homo sapiens calpain 5 (CAPN5), mRNA. 88 Calpain catalytic. FGEW -> LGM (in Ref. 1; AAC51869). proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 GCAGCCTGCTCGTCACTTGCC 0.662000 9 12 0 0 0.00136819 0 0 ITLN1 55600 broad.mit.edu 37 1 160850449 160850449 + Missense_Mutation SNP G A A rs147618489 byFrequency TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:160850449G>A uc001fxc.3 - 5 730 c.614C>T c.(613-615)cCg>cTg p.P205L NM_017625 NP_060095 Q8WWA0 ITLN1_HUMAN Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA. 205 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) AGGGATCACCGGGCCGTTGTC 0.438000 136 62 0 0 0.000781405 0 0 PSEN1 5663 broad.mit.edu 37 14 73685906 73685906 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:73685906C>T uc001xnr.3 + 11 1597 c.1313C>T c.(1312-1314)tCc>tTc p.S438F PSEN1_uc001xnv.3_Missense_Mutation_p.S434F|PSEN1_uc010ark.3_Missense_Mutation_p.S434F|PSEN1_uc001xnu.3_Non-coding_Transcript NM_000021 NP_000012 P49768 PSN1_HUMAN Homo sapiens presenilin 1 (PSEN1), transcript variant 1, mRNA. 438 Required for interaction with CTNNB1. Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis Golgi membrane|Z disc|apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum PDZ domain binding|aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075) CTTCCAATCTCCATCACCTTT 0.393000 151 89 0 0 0.000781405 0 0 PCGF6 84108 broad.mit.edu 37 10 105104827 105104827 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:105104827G>A uc001kwt.3 - 5 804 c.736C>T c.(736-738)Cgt>Tgt p.R246C PCGF6_uc001kwu.3_Intron|PCGF6_uc009xxk.3_Non-coding_Transcript|PCGF6_uc009xxl.3_Non-coding_Transcript NM_001011663 NP_001011663 Q9BYE7 PCGF6_HUMAN Homo sapiens polycomb group ring finger 6 (PCGF6), transcript variant 1, mRNA. 246 negative regulation of transcription, DNA-dependent PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3) 8 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205) GGTGGAATACGAAACACTGAT 0.318000 54 13 0 0 0.000422831 0 0 NDUFB5 4711 broad.mit.edu 37 3 179341806 179341806 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:179341806C>T uc003fkc.3 + 5 577 c.548C>T c.(547-549)cCg>cTg p.P183L NDUFB5_uc021xhu.1_3'UTR|NDUFB5_uc003fke.3_Missense_Mutation_p.P131L|NDUFB5_uc003fkd.3_Non-coding_Transcript NM_002492 NP_002483 O43674 NDUB5_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa (NDUFB5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 183 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(1)|lung(6)|skin(1) 8 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) NADH(DB00157) GATCATTCTCCGAAAGCAACT 0.333000 29 14 0 0 0.000308642 0 0 OR11G2 390439 broad.mit.edu 37 14 20665797 20665797 + Silent SNP C T T rs138212036 byFrequency TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:20665797C>T uc010tlb.2 + 0 303 c.303C>T c.(301-303)ctC>ctT p.L101L NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA. 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) ACATCCTGCTCGCCAACTTCT 0.522000 58 9 0 0 0.000442599 0 0 PLEC 5339 broad.mit.edu 37 8 144997805 144997805 + Missense_Mutation SNP C A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:144997805C>A uc003zaf.1 - 30 6873 c.6703G>T c.(6703-6705)Gtg>Ttg p.V2235L PLEC_uc003zab.1_Missense_Mutation_p.V2098L|PLEC_uc003zac.1_Missense_Mutation_p.V2102L|PLEC_uc003zad.2_Missense_Mutation_p.V2098L|PLEC_uc003zae.1_Missense_Mutation_p.V2066L|PLEC_uc003zag.1_Missense_Mutation_p.V2076L|PLEC_uc003zah.2_Missense_Mutation_p.V2084L|PLEC_uc003zaj.2_Missense_Mutation_p.V2125L NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 2235 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCCGCCTGCACCCGGGCCTCC 0.756000 15 5 0.00116845 0.00769693 0.00116845 1 0 DUOX2 50506 broad.mit.edu 37 15 45394069 45394069 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:45394069G>A uc001zun.3 - 20 2976 c.2773C>T c.(2773-2775)Cac>Tac p.H925Y DUOX2_uc010bea.3_Missense_Mutation_p.H925Y NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 925 EF-hand 3. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) AGCATGAAGTGAAAATCCTCC 0.572000 40 12 0 0 0.000219431 0 0 GRIK1 2897 broad.mit.edu 37 21 30959753 30959753 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr21:30959753G>A uc002yno.1 - 11 2190 c.1726C>T c.(1726-1728)Cca>Tca p.P576S GRIK1_uc002ynn.3_Missense_Mutation_p.P561S|GRIK1_uc011acs.2_Missense_Mutation_p.P576S|GRIK1_uc011act.2_Missense_Mutation_p.P437S|GRIK1_uc010glq.1_Missense_Mutation_p.P419S NM_000830 NP_000821 P39086 GRIK1_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA. 576 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CAAATATCTGGAGACAGGGGG 0.473000 35 22 0 0 0.00106085 0 0 GPR126 57211 broad.mit.edu 37 6 142758584 142758584 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:142758584C>T uc010khe.3 + 22 3744 c.3333C>T c.(3331-3333)ttC>ttT p.F1111F GPR126_uc010khc.3_Silent_p.F1111F|GPR126_uc010khd.3_Silent_p.F1083F|GPR126_uc010khf.3_Silent_p.F1083F|GPR126_uc011edv.2_Silent_p.F171F NM_198569 NP_940971 Q86SQ4 GP126_HUMAN Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA. 1111 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) TATTTATATTCATCTTCCACT 0.338000 47 15 0 0 0.000566183 0 0 CDH23 64072 broad.mit.edu 37 10 73376977 73376977 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:73376977G>A uc001jrx.4 + 10 1351 c.961G>A c.(961-963)Gat>Aat p.D321N CDH23_uc001jrw.4_Missense_Mutation_p.D321N|CDH23_uc001jry.3_Missense_Mutation_p.D321N|CDH23_uc001jrz.3_Missense_Mutation_p.D321N|CDH23_uc021psl.1_Missense_Mutation_p.D321N|CDH23_uc009xql.3_Missense_Mutation_p.D321N NM_022124 NP_071407 Q9H251 CAD23_HUMAN Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA. 321 Cadherin 3. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GGAGCTGAACGATGACCGCAC 0.522000 16 5 0 0 0.000602214 0 0 FAM129A 116496 broad.mit.edu 37 1 184764653 184764653 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:184764653C>T uc001gra.3 - 13 2439 c.2245G>A c.(2245-2247)Gaa>Aaa p.E749K FAM129A_uc001grb.1_Intron NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA. 749 Glu-rich. negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 GGCTCTTTTTCCTCTTCTTCT 0.562000 129 24 0 0 0.000586117 0 0 GLYAT 10249 broad.mit.edu 37 11 58477266 58477266 + Nonsense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:58477266C>T uc001nnb.3 - 5 1019 c.864G>A c.(862-864)tgG>tgA p.W288* NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 288 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) TCCACTGGTTCCAGCTTCTGG 0.448000 82 25 0 0 0.000339439 0 0 ZFP2 80108 broad.mit.edu 37 5 178358836 178358836 + Silent SNP T C C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:178358836T>C uc003mjn.1 + 4 1031 c.522T>C c.(520-522)acT>acC p.T174T ZFP2_uc010jky.2_Silent_p.T174T|ZFP2_uc010jkx.1_Silent_p.T174T|ZFP2_uc021yjb.1_Silent_p.T174T NM_030613 NP_085116 Q6ZN57 ZFP2_HUMAN Homo sapiens zinc finger protein 2 homolog (mouse) (ZFP2), mRNA. 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 20 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) TGAATCTTACTGTCCATCAAC 0.403000 11 18 0 0 0.00152264 0 0 CDH23 64072 broad.mit.edu 37 10 73447448 73447448 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:73447448C>T uc001jrx.4 + 17 2415 c.2025C>T c.(2023-2025)ttC>ttT p.F675F CDH23_uc001jry.3_Silent_p.F675F|CDH23_uc001jrz.3_Silent_p.F675F NM_022124 NP_071407 Q9H251 CAD23_HUMAN Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA. 677 Cadherin 7. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CCGCCTACTTCGTCTCCGTGG 0.627000 17 4 0 0 0.000602214 0 0 FYB 2533 broad.mit.edu 37 5 39203057 39203057 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:39203057C>T uc003jls.3 - 0 73 c.6G>A c.(4-6)gcG>gcA p.A2A FYB_uc003jlt.3_Silent_p.A2A|FYB_uc003jlu.3_Silent_p.A2A|FYB_uc011cpl.2_Silent_p.A12A NM_199335 NP_955367 O15117 FYB_HUMAN Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA. 2 NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation cytosol|nucleus protein binding p.A2V(1) endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TGTTATATTTCGCCATGAGGG 0.433000 56 22 0 0 0.000878237 0 0 DAPP1 27071 broad.mit.edu 37 4 100756893 100756893 + Missense_Mutation SNP T C C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:100756893T>C uc003hvf.4 + 1 305 c.215T>C c.(214-216)cTc>cCc p.L72P DAPP1_uc011cek.2_Missense_Mutation_p.L72P|DAPP1_uc010ilh.3_Missense_Mutation_p.L72P NM_014395 NP_055210 Q9UN19 DAPP1_HUMAN Homo sapiens dual adaptor of phosphotyrosine and 3-phosphoinositides (DAPP1), mRNA. 72 SH2. signal transduction cytoplasm|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity endometrium(1)|kidney(1)|lung(4) 6 OV - Ovarian serous cystadenocarcinoma(123;7.04e-09) CTGTACTCTCTCTCTGTGAGG 0.507000 34 11 0 0 0.00136819 0 0 POLL 27343 broad.mit.edu 37 10 103339317 103339317 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:103339317G>A uc001ktg.1 - 7 2387 c.1621C>T c.(1621-1623)Cat>Tat p.H541Y DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_Missense_Mutation_p.H214Y|POLL_uc001kte.1_Missense_Mutation_p.H233Y|POLL_uc001kth.1_Missense_Mutation_p.H266Y|POLL_uc001ktj.2_Missense_Mutation_p.H541Y|POLL_uc010qqb.2_Non-coding_Transcript|POLL_uc001ktf.3_Missense_Mutation_p.H449Y|POLL_uc001kti.2_Missense_Mutation_p.H541Y|POLL_uc001ktl.3_Missense_Mutation_p.H453Y|POLL_uc001ktm.3_Missense_Mutation_p.H541Y|POLL_uc010qqc.2_Missense_Mutation_p.H233Y|POLL_uc010qqa.2_Missense_Mutation_p.H280Y NM_013274 NP_037406 Q9UGP5 DPOLL_HUMAN Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA. 541 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) TTGCAGCCATGGGTGTTCCGG 0.617000 DNA polymerases (catalytic subunits) 28 16 0 0 0.00074312 0 0 DRAM1 55332 broad.mit.edu 37 12 102302061 102302061 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:102302061C>T uc001tix.3 + 3 903 c.440C>T c.(439-441)tCa>tTa p.S147L DRAM1_uc010svv.2_Intron NM_018370 NP_060840 Q8N682 DRAM1_HUMAN Homo sapiens DNA-damage regulated autophagy modulator 1 (DRAM1), mRNA. 147 apoptosis|autophagy integral to membrane|lysosomal membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 TCTTACAAATCATGTCCCCAG 0.512000 82 17 0 0 0.00074312 0 0 SCN11A 11280 broad.mit.edu 37 3 38991652 38991652 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:38991652C>T uc021wvy.1 - 0 401 c.202G>A c.(202-204)Gac>Aac p.D68N NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 68 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CGAGGAATGTCGCCATAGAGC 0.542000 70 22 0 0 0.000229342 0 0 CDRT1 374286 broad.mit.edu 37 17 15517324 15517324 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:15517324G>A uc002gor.1 - 8 1961 c.1624C>T c.(1624-1626)Cgg>Tgg p.R542W CDRT1_uc002gov.4_Missense_Mutation_p.R232W O95170 CDRT1_HUMAN Homo sapiens tripartite motif containing 16 (TRIM16), mRNA. 232 endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541) GATATACACCGGAGTGAATTC 0.488000 80 25 0 0 0.000720815 0 0 PRKG1 5592 broad.mit.edu 37 10 54041970 54041970 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:54041970G>A uc001jjm.3 + 13 1786 c.1558G>A c.(1558-1560)Ggg>Agg p.G520R PRKG1_uc001jjo.3_Missense_Mutation_p.G535R|PRKG1_uc009xow.2_Missense_Mutation_p.G238R|LOC100506939_uc021pqu.1_Intron NM_001098512 NP_001091982 Q13976 KGP1_HUMAN Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA. 520 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) GACTTTTTGTGGGACTCCAGA 0.403000 37 19 0 0 0.000958276 0 0 ROS1 6098 broad.mit.edu 37 6 117662729 117662729 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:117662729C>T uc003pxp.1 - 28 4935 c.4736G>A c.(4735-4737)aGa>aAa p.R1579K ROS1_uc011ebi.1_Intron|ROS1_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 1579 Fibronectin type-III 7. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GTGAGATTCTCTCCAAGATAT 0.428000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 29 13 0 0 0.000219431 0 0 SIRPB2 284759 broad.mit.edu 37 20 1460549 1460549 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:1460549C>T uc002wfg.2 - 1 475 c.247G>A c.(247-249)Gaa>Aaa p.E83K SIRPB2_uc002wfh.3_Intron|SIRPB2_uc010zpr.1_Intron NM_001122962 NP_001116434 Q5JXA9 SIRB2_HUMAN Homo sapiens signal-regulatory protein beta 2 (SIRPB2), transcript variant 1, mRNA. 83 Ig-like V-type 1. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TTATAAATTTCCTGTTGGTCC 0.463000 56 24 0 0 0.000375601 0 0 MOB3A 126308 broad.mit.edu 37 19 2076834 2076834 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:2076834G>A uc002luu.3 - 1 759 c.600C>T c.(598-600)atC>atT p.I200I MOB3A_uc002luv.3_Silent_p.I200I NM_130807 NP_570719 Q96BX8 MOL2A_HUMAN Homo sapiens MOB kinase activator 3A (MOB3A), mRNA. 200 intracellular metal ion binding CCTTGGTGTCGATGAGGCCGA 0.637000 4 8 0 0 0.000157383 0 0 PSG5 5673 broad.mit.edu 37 19 43688966 43688966 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:43688966C>T uc002ovu.3 - 1 529 c.398G>A c.(397-399)gGa>gAa p.G133E PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.G133E NM_002781 NP_002772 Q15238 PSG5_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA. 133 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) TCCAGTTACTCCTCTAGTCCT 0.473000 148 44 0 0 0.000781405 0 0 SH3TC1 54436 broad.mit.edu 37 4 8229706 8229706 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:8229706C>T uc003gkv.4 + 11 2386 c.2285C>T c.(2284-2286)cCt>cTt p.P762L SH3TC1_uc003gkw.4_Missense_Mutation_p.P686L|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA. 762 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 CACAGCCTCCCTGCCCAAACT 0.692000 20 5 0 0 8.12818e-05 0 0 FCGBP 8857 broad.mit.edu 37 19 40411937 40411937 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:40411937G>A uc002omp.4 - 6 3699 c.3691C>T c.(3691-3693)Ccg>Tcg p.P1231S NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 1231 Cys-rich. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCCTCGTGCGGTCCGCAGCTG 0.672000 27 14 0 0 0.000422831 0 0 ATMIN 23300 broad.mit.edu 37 16 81077419 81077419 + Missense_Mutation SNP C G G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:81077419C>G uc002ffz.1 + 3 1334 c.1316C>G c.(1315-1317)tCt>tGt p.S439C ATMIN_uc002fga.2_Missense_Mutation_p.S281C|ATMIN_uc010vnn.1_Missense_Mutation_p.S210C|ATMIN_uc002fgb.1_Missense_Mutation_p.S281C NM_015251 NP_056066 O43313 ATMIN_HUMAN Homo sapiens ATM interactor (ATMIN), mRNA. 439 Required for formation of RAD51 foci. response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 TCTGTGTCGTCTTGTTCTCAA 0.413000 67 27 0 0 0.000878237 0 0 ENGASE 64772 broad.mit.edu 37 17 77082081 77082081 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:77082081C>T uc002jwv.3 + 13 1890 c.1882C>T c.(1882-1884)Cgc>Tgc p.R628C ENGASE_uc002jww.3_Missense_Mutation_p.R333C NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA. 628 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 CTCTCACATCCGCTGGCAGCC 0.672000 31 9 0 0 0.000274275 0 0 NRG1 3084 broad.mit.edu 37 8 32585487 32585487 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:32585487G>A uc003xiv.2 + 5 1040 c.523G>A c.(523-525)Ggg>Agg p.G175R NRG1_uc022ats.1_Missense_Mutation_p.G120R|NRG1_uc003xip.3_Missense_Mutation_p.G356R|NRG1_uc003xir.3_Missense_Mutation_p.G175R|NRG1_uc010lvl.3_Missense_Mutation_p.G158R|NRG1_uc010lvm.3_Missense_Mutation_p.G141R|NRG1_uc010lvn.3_Missense_Mutation_p.G141R|NRG1_uc003xis.3_Missense_Mutation_p.G175R|NRG1_uc011lbf.1_Missense_Mutation_p.G175R|NRG1_uc010lvo.2_Missense_Mutation_p.G175R|NRG1_uc003xiu.2_Missense_Mutation_p.G175R|NRG1_uc003xiw.2_Missense_Mutation_p.G175R|NRG1_uc003xit.2_Missense_Mutation_p.G175R|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Missense_Mutation_p.G124R|NRG1_uc010lvq.2_Missense_Mutation_p.G100R|NRG1_uc003xix.3_Missense_Mutation_p.G65R|NRG1_uc003xiy.3_Missense_Mutation_p.G230R|NRG1_uc011lbg.1_Missense_Mutation_p.G21R|NRG1_uc011lbh.1_Missense_Mutation_p.G21R|NRG1_uc003xiz.1_Non-coding_Transcript|NRG1_uc003xja.2_5'UTR NM_013964 NP_039258 Q02297 NRG1_HUMAN Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA. 175 Ser/Thr-rich. Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) ATCCACCACTGGGACAAGCCA 0.428000 53 43 0 0 0.000781405 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768012 77768012 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:77768012G>A uc003yau.2 + 9 9242 c.8855G>A c.(8854-8856)cGa>cAa p.R2952Q ZFHX4_uc003yaw.1_Missense_Mutation_p.R2907Q NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 2907 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R2936Q(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGTGACTACCGAACTCCAACC 0.448000 HNSCC(33;0.089) 46 8 0 0 0.000442599 0 0 ERCC3 2071 broad.mit.edu 37 2 128029016 128029016 + Missense_Mutation SNP G A A rs139049289 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:128029016G>A uc002toh.1 - 11 1936 c.1841C>T c.(1840-1842)tCg>tTg p.S614L ERCC3_uc002toe.1_Missense_Mutation_p.S369L|ERCC3_uc002tof.1_Missense_Mutation_p.S550L|ERCC3_uc002tog.1_Missense_Mutation_p.S550L NM_000122 NP_000113 P19447 ERCC3_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA. 614 Helicase C-terminal. DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) CAGATCAAACGAAGTGTCACC 0.423000 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 53 38 0 0 0.000374591 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47558509 47558509 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:47558509C>T uc002xtx.4 + 2 413 c.261C>T c.(259-261)tcC>tcT p.S87S NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA. 87 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction Golgi membrane|cytosol ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TCAGCACATCCCTTGACTGCT 0.502000 51 16 0 0 0.000422831 0 0 C19orf33 64073 broad.mit.edu 37 19 38795318 38795318 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:38795318G>A uc002ohu.1 + 2 291 c.193G>A c.(193-195)Gat>Aat p.D65N YIF1B_uc002ohw.2_3'UTR|YIF1B_uc002ohx.2_3'UTR|YIF1B_uc010xtx.1_3'UTR|YIF1B_uc010xty.1_3'UTR|YIF1B_uc002oia.2_3'UTR|YIF1B_uc002ohy.2_3'UTR|YIF1B_uc002ohz.2_3'UTR|C19orf33_uc002ohv.1_Silent_p.R84R NM_033520 NP_277055 Q9GZP8 IMUP_HUMAN Homo sapiens chromosome 19 open reading frame 33 (C19orf33), mRNA. 65 nucleus all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TTCGGACACGGATGTGAAGGT 0.692000 24 11 0 0 0.000219431 0 0 LRP4 4038 broad.mit.edu 37 11 46900852 46900852 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:46900852G>A uc001ndn.4 - 20 3072 c.2829C>T c.(2827-2829)agC>agT p.S943S NM_002334 NP_002325 O75096 LRP4_HUMAN Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA. 943 Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) GGGGGAGCTGGCTTCCAATCA 0.562000 25 16 0 0 0.000958276 0 0 TOP3A 7156 broad.mit.edu 37 17 18183948 18183948 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:18183948G>A uc002gsx.1 - 16 2275 c.2046C>T c.(2044-2046)ttC>ttT p.F682F TOP3A_uc010cpz.1_Silent_p.F134F|TOP3A_uc010vxr.1_Silent_p.F212F|TOP3A_uc002gsw.1_Silent_p.F134F|TOP3A_uc010vxs.1_Silent_p.F580F NM_004618 NP_004609 Q13472 TOP3A_HUMAN Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA. 682 DNA topological change|meiosis PML body|chromosome ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 GACACTCTGGGAAACCCATGC 0.577000 33 15 0 0 0.00074312 0 0 GYS1 2997 broad.mit.edu 37 19 49473833 49473833 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:49473833G>A uc002plp.3 - 13 2020 c.1779C>T c.(1777-1779)tcC>tcT p.S593S GYS1_uc010emm.3_Silent_p.S529S|GYS1_uc010xzz.2_Silent_p.S513S NM_002103 NP_002094 P13807 GYS1_HUMAN Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA. 593 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) CCAGAAGGTCGGAGAGGCGCT 0.597000 OREG0025611 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 4 0 0 0.000602214 0 0 TIMMDC1 51300 broad.mit.edu 37 3 119219648 119219648 + Nonsense_Mutation SNP A T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:119219648A>T uc003ecn.3 + 1 514 c.301A>T c.(301-303)Aaa>Taa p.K101* TIMMDC1_uc003eco.3_Non-coding_Transcript|TIMMDC1_uc003ecp.3_Non-coding_Transcript NM_016589 NP_057673 Q9NPL8 TIDC1_HUMAN Homo sapiens translocase of inner mitochondrial membrane domain containing 1 (TIMMDC1), nuclear gene encoding mitochondrial protein, mRNA. 101 integral to membrane|mitochondrial inner membrane protein transporter activity autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 15 TATTCATGCTAAACAACAATA 0.433000 31 15 0 0 0.00074312 0 0 FAM75E1 286234 broad.mit.edu 37 9 90499972 90499972 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:90499972C>T uc004app.4 + 3 605 c.570C>T c.(568-570)tcC>tcT p.S190S FAM75E1_uc004apo.1_Intron NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA. 190 Pro-rich. integral to membrane CCAGCTTGTCCCCACCAGCTC 0.627000 24 26 0 0 0.00106085 0 0 MYOCD 93649 broad.mit.edu 37 17 12656204 12656204 + Nonsense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:12656204G>A uc002gno.2 + 9 1898 c.1599G>A c.(1597-1599)tgG>tgA p.W533* MYOCD_uc002gnn.2_Nonsense_Mutation_p.W533*|MYOCD_uc002gnp.1_Nonsense_Mutation_p.W437*|MYOCD_uc002gnq.2_Nonsense_Mutation_p.W252* NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 533 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AACTCACCTGGAAACTCCAGC 0.537000 34 17 0 0 0.00074312 0 0 CPN2 1370 broad.mit.edu 37 3 194062895 194062895 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:194062895G>A uc003fts.3 - 1 627 c.537C>T c.(535-537)aaC>aaT p.N179N CPN2_uc021xix.1_Silent_p.N179N NM_001080513 NP_001073982 P22792 CPN2_HUMAN Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA. 179 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) GGGCCAGGAGGTTCTGGGCCA 0.647000 28 9 0 0 0.000442599 0 0 SORL1 6653 broad.mit.edu 37 11 121474953 121474953 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:121474953G>A uc001pxx.3 + 32 4700 c.4571G>A c.(4570-4572)gGg>gAg p.G1524E SORL1_uc010rzp.1_Missense_Mutation_p.G370E|SORL1_uc010rzq.1_Missense_Mutation_p.G139E NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 1524 LDL-receptor class A 11. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TGCGAGGACGGGGAGGCCTGC 0.617000 95 32 0 0 0.00148497 0 0 PAPOLB 56903 broad.mit.edu 37 7 4899799 4899799 + Nonsense_Mutation SNP A T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:4899799A>T uc003snk.3 - 0 1827 c.1643T>A c.(1642-1644)tTg>tAg p.L548* RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron NM_020144 NP_064529 Q9NRJ5 PAPOB_HUMAN Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA. 547 RNA polyadenylation|mRNA processing|transcription, DNA-dependent nucleus ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) ACTGCTAATCAATGGGCCTGT 0.453000 83 60 0 0 0.000781405 0 0 PCDH15 65217 broad.mit.edu 37 10 55582729 55582729 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:55582729C>T uc010qhy.1 - 34 5173 c.4778G>A c.(4777-4779)aGg>aAg p.R1593K PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.R1588K|PCDH15_uc021pqz.1_Missense_Mutation_p.R1563K|PCDH15_uc010qhv.1_Missense_Mutation_p.R1583K|PCDH15_uc010qhw.1_Missense_Mutation_p.R1546K|PCDH15_uc010qhx.1_Missense_Mutation_p.R1517K|PCDH15_uc010qhz.1_Missense_Mutation_p.R1588K|PCDH15_uc010qia.1_Missense_Mutation_p.R1566K|PCDH15_uc001jju.1_Missense_Mutation_p.R1586K|PCDH15_uc010qib.1_Missense_Mutation_p.R1563K NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 1586 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TGGAACTTTCCTCATCAGCCT 0.463000 HNSCC(58;0.16) 46 18 0 0 0.000295444 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555292 44555292 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr18:44555292C>T uc010xdb.2 - 0 1158 c.922G>A c.(922-924)Gaa>Aaa p.E308K KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA. 308 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 AAAGCAGCTTCCTCCTGGAGC 0.637000 790 29 0 0 0.001512 0 0 DOCK4 9732 broad.mit.edu 37 7 111368493 111368493 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:111368493G>A uc003vfy.3 - 53 6142 c.5873C>T c.(5872-5874)cCc>cTc p.P1958L DOCK4_uc011kml.2_Missense_Mutation_p.P794L|DOCK4_uc011kmm.2_Missense_Mutation_p.P782L|DOCK4_uc003vfw.3_Missense_Mutation_p.P1325L|DOCK4_uc003vfx.3_Missense_Mutation_p.P1913L|DOCK4_uc003vfv.3_Missense_Mutation_p.P226L NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA. 1913 Pro-rich. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) TAGCGGGACGGGGCGCCGCAG 0.716000 34 34 0 0 0.00128727 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54920345 54920345 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:54920345G>A uc001sgc.4 + 20 2269 c.2190G>A c.(2188-2190)acG>acA p.T730T NCKAP1L_uc010sox.2_Silent_p.T272T|NCKAP1L_uc010soy.2_Silent_p.T680T NM_005337 NP_005328 P55160 NCKPL_HUMAN Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA. 730 B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug SCAR complex|cytosol|integral to plasma membrane|membrane fraction Rac GTPase activator activity|protein complex binding|protein kinase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 ACAATGCCACGACCCAGGAGA 0.433000 49 32 0 0 0.000491102 0 0 C10orf96 374355 broad.mit.edu 37 10 118101596 118101596 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:118101596G>A uc001lck.3 + 4 582 c.331G>A c.(331-333)Gaa>Aaa p.E111K NM_198515 NP_940917 P0C7W6 CJ096_HUMAN Homo sapiens chromosome 10 open reading frame 96 (C10orf96), mRNA. 111 p.K110Q(1) kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3) 18 Lung NSC(174;0.204)|all_lung(145;0.248) all cancers(201;0.014) ATTTATTAAGGAAATTACAGA 0.264000 57 10 0 0 0.00136819 0 0 MUC5B 727897 broad.mit.edu 37 11 1269208 1269208 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:1269208G>A uc001lta.3 + 30 11157 c.11098G>A c.(11098-11100)Gcc>Acc p.A3700T NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 3700 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GACCACAACAGCCACTACGAC 0.652000 106 22 0 0 0.000878237 0 0 GRIA3 2892 broad.mit.edu 37 X 122613938 122613938 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:122613938G>A uc004etq.4 + 13 2641 c.2349G>A c.(2347-2349)ttG>ttA p.L783L GRIA3_uc004etr.4_Intron|GRIA3_uc004ets.4_Non-coding_Transcript NM_007325 NP_015564 P42263 GRIA3_HUMAN Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA. 783 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) TTGCAGTATTGAAACTCAGTG 0.383000 16 32 0 0 0.000953801 0 0 GPLD1 2822 broad.mit.edu 37 6 24447166 24447166 + Missense_Mutation SNP C T T rs140138874 byFrequency TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:24447166C>T uc003ned.1 - 17 1831 c.1720G>A c.(1720-1722)Gag>Aag p.E574K NM_001503 NP_001494 P80108 PHLD_HUMAN Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA. 574 extracellular region glycosylphosphatidylinositol phospholipase D activity p.G573C(1) breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 AAGTCTTCCTCGCCTCTCACC 0.488000 38 31 0 0 0.00058488 0 0 OXR1 55074 broad.mit.edu 37 8 107751735 107751735 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:107751735C>T uc011lht.2 + 11 2189 c.2090C>T c.(2089-2091)gCa>gTa p.A697V OXR1_uc022azp.1_Missense_Mutation_p.A696V|OXR1_uc003ymf.3_Missense_Mutation_p.A669V|OXR1_uc011lhu.2_Missense_Mutation_p.A662V|OXR1_uc010mcg.3_Non-coding_Transcript|OXR1_uc010mch.3_Intron|OXR1_uc003ymk.3_Missense_Mutation_p.A66V|OXR1_uc003yml.3_Missense_Mutation_p.A39V NM_001198532 NP_001185461 Q8N573 OXR1_HUMAN Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA. 697 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion p.N697D(1) NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) ACAGTGAAAGCAGACCTGGAG 0.378000 41 22 0 0 0.000586117 0 0 PRKCQ 5588 broad.mit.edu 37 10 6528045 6528045 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:6528045G>A uc001iji.1 - 7 1035 c.951C>T c.(949-951)aaC>aaT p.N317N PRKCQ_uc001ijj.2_Silent_p.N284N|PRKCQ_uc009xim.2_Silent_p.N284N|PRKCQ_uc009xin.2_Silent_p.N248N|PRKCQ_uc010qax.2_Silent_p.N159N NM_006257 NP_006248 Q04759 KPCT_HUMAN Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA. 284 T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 TTAGCTTCTGGTTTATGCCAC 0.527000 40 10 0 0 0.000673444 0 0 ABCD3 5825 broad.mit.edu 37 1 94964161 94964161 + Nonsense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:94964161C>T uc010oto.2 + 17 1564 c.1462C>T c.(1462-1464)Cga>Tga p.R488* ABCD3_uc001dqn.4_Nonsense_Mutation_p.R464*|ABCD3_uc010otp.2_Nonsense_Mutation_p.R391*|ABCD3_uc009wdr.3_Nonsense_Mutation_p.R354*|ABCD3_uc001dqo.4_Nonsense_Mutation_p.R152* NM_002858 NP_002849 P28288 ABCD3_HUMAN Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA. 464 ABC transporter. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) TTTTCAGGTTCGATCTGGGGC 0.338000 21 9 0 0 0.000978159 0 0 UGT3A2 167127 broad.mit.edu 37 5 36037996 36037996 + Nonsense_Mutation SNP G A A rs147315371 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:36037996G>A uc003jjz.2 - 5 1330 c.1198C>T c.(1198-1200)Cga>Tga p.R400* UGT3A2_uc011cos.2_Nonsense_Mutation_p.R366*|UGT3A2_uc011cot.2_Nonsense_Mutation_p.R98* NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA. 400 integral to membrane glucuronosyltransferase activity p.V399F(1) NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCTTCTACTCGGACCATGTTT 0.478000 91 20 0 0 0.000958276 0 0 MUC16 94025 broad.mit.edu 37 19 9076695 9076695 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:9076695G>A uc002mkp.3 - 2 10955 c.10751C>T c.(10750-10752)tCt>tTt p.S3584F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3585 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 AGCTGTGGAAGACCAGGTGGA 0.493000 68 21 0 0 0.000229342 0 0 RIN1 9610 broad.mit.edu 37 11 66103267 66103267 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:66103267G>A uc001ohn.1 - 2 475 c.348C>T c.(346-348)ttC>ttT p.F116F RIN1_uc010roy.1_5'Flank|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Silent_p.F11F|RIN1_uc010rpa.1_Silent_p.F11F NM_004292 NP_004283 Q13671 RIN1_HUMAN Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA. 116 SH2. endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1) 14 GGCTGGAGACGAAGGAGGGGC 0.637000 13 11 0 0 0.000978159 0 0 ABCB5 340273 broad.mit.edu 37 7 20782554 20782554 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:20782554C>T uc010kuh.3 + 24 3316 c.3079C>T c.(3079-3081)Cgc>Tgc p.R1027C ABCB5_uc003suw.4_Missense_Mutation_p.R582C NM_001163941 NP_848654 Q2M3G0 ABCB5_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA. 582 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 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 CTATCCATGTCGCCCAGATGT 0.468000 52 21 0 0 0.000375601 0 0 abParts 0 broad.mit.edu 37 14 106349677 106349677 + Splice_Site SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:106349677G>A uc021ser.1 - 3936 c.58751_splice c.e3936-1 Parts of antibodies, mostly variable regions. AGCCCCAGGAGAAGCAGGTGA 0.622000 10 5 0 0 0.00116845 0 0 OR10H5 284433 broad.mit.edu 37 19 15905589 15905589 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:15905589C>T uc010xos.2 + 0 731 c.731C>T c.(730-732)tCt>tTt p.S244F NM_001004466 NP_001004466 Q8NGA6 O10H5_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA. 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S244A(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 ACCTGTGCCTCTCACCTCACT 0.552000 18 14 0 0 0.000295444 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947403 57947403 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:57947403G>A uc021qjm.1 + 0 487 c.487G>A c.(487-489)Gcc>Acc p.A163T OR9Q1_uc001nmj.3_Missense_Mutation_p.A163T NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA. 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) GACAGTCTCAGCCTTCACTCT 0.522000 21 17 0 0 0.000422831 0 0 ULBP3 79465 broad.mit.edu 37 6 150386606 150386606 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:150386606C>T uc003qns.3 - 2 637 c.556G>A c.(556-558)Gtc>Atc p.V186I ULBP3_uc011eej.1_Missense_Mutation_p.V61I|ULBP3_uc011eek.1_Missense_Mutation_p.V137I NM_024518 NP_078794 Q9BZM4 N2DL3_HUMAN Homo sapiens UL16 binding protein 3 (ULBP3), mRNA. 186 MHC class I alpha-2 like. antigen processing and presentation|immune response|natural killer cell activation MHC class I protein complex|anchored to membrane MHC class I receptor activity central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 9 Ovarian(120;0.12) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.45e-12) CTCATTGAGACCATCTTGAAG 0.527000 47 15 0 0 0.000308642 0 0 LRRC56 115399 broad.mit.edu 37 11 540700 540700 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:540700G>A uc010qvz.2 + 3 521 c.16G>A c.(16-18)Gac>Aac p.D6N NM_198075 NP_932341 Q8IYG6 LRC56_HUMAN Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA. 6 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) TCTGGGCTGGGACAGATCCCG 0.667000 30 12 0 0 0.000151284 0 0 USP6NL 9712 broad.mit.edu 37 10 11505704 11505704 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:11505704G>A uc001iks.1 - 13 1317 c.1274C>T c.(1273-1275)cCc>cTc p.P425L USP6NL_uc001ikt.3_Missense_Mutation_p.P408L NM_001080491 NP_001073960 Q92738 US6NL_HUMAN Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA. 408 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 CCTCCTGTGGGGCGCCCCGCT 0.687000 22 6 0 0 0.00116845 0 0 GRM3 2913 broad.mit.edu 37 7 86415831 86415831 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:86415831C>T uc003uid.3 + 2 1822 c.723C>T c.(721-723)atC>atT p.I241I GRM3_uc010lef.3_Silent_p.I239I|GRM3_uc010leg.3_Silent_p.I113I|GRM3_uc010leh.3_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 241 synaptic transmission integral to plasma membrane p.I241I(2) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) ACATCTGCATCGCTACGGCGG 0.617000 41 36 0 0 0.000814825 0 0 GML 2765 broad.mit.edu 37 8 143927990 143927990 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:143927990G>A uc003yxg.3 + 3 451 c.361G>A c.(361-363)Gac>Aac p.D121N NM_002066 NP_002057 Q99445 GML_HUMAN Homo sapiens glycosylphosphatidylinositol anchored molecule like protein (GML), mRNA. 121 UPAR/Ly6. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|apoptosis|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane p.R120M(1) NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8) 18 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TCTTGAAAGGGACATGTTACC 0.438000 39 27 0 0 0.000339439 0 0 KCNT1 57582 broad.mit.edu 37 9 138676458 138676458 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:138676458C>T uc011mdq.2 + 25 3095 c.3021C>T c.(3019-3021)ctC>ctT p.L1007L KCNT1_uc011mdr.2_Silent_p.L834L|KCNT1_uc010nbf.3_Silent_p.L962L|KCNT1_uc004cgo.1_Silent_p.L756L NM_020822 NP_065873 B7ZVY4 B7ZVY4_HUMAN Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA. 1007 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CGGGGTACCTCTGTGCCGTAA 0.677000 6 13 0 0 0.00136819 0 0 KCNV1 27012 broad.mit.edu 37 8 110984881 110984881 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:110984881G>A uc003ynr.4 - 1 1401 c.597C>T c.(595-597)atC>atT p.I199I KCNV1_uc010mcw.3_Silent_p.I199I NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA. 199 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) GTTTCTCCAGGATATTCCAGA 0.498000 43 14 0 0 0.000151284 0 0 FSTL4 23105 broad.mit.edu 37 5 132535168 132535168 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:132535168G>A uc003kyn.1 - 15 2366 c.2148C>T c.(2146-2148)atC>atT p.I716I FSTL4_uc003kym.1_Silent_p.I365I NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN Homo sapiens follistatin-like 4 (FSTL4), mRNA. 716 extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCCGCACTGTGATCTCCTGCA 0.572000 17 25 0 0 0.000375601 0 0 ENDOD1 23052 broad.mit.edu 37 11 94862342 94862342 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:94862342G>A uc001pfh.3 + 1 1220 c.1102G>A c.(1102-1104)Gtg>Atg p.V368M NM_015036 NP_055851 O94919 ENDD1_HUMAN Homo sapiens endonuclease domain containing 1 (ENDOD1), mRNA. 368 extracellular region endonuclease activity|metal ion binding|nucleic acid binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824) TACCAAGCAGGTGATTAATGG 0.443000 67 10 0 0 0.000673444 0 0 AHCTF1 25909 broad.mit.edu 37 1 247065863 247065863 + Nonsense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:247065863G>A uc001ibv.2 - 7 1205 c.1108C>T c.(1108-1110)Cga>Tga p.R370* NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA. 361 Necessary for cytoplasmic localization (By similarity). cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding p.G369D(1) NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CCATGAGATCGAAATTTCTCT 0.418000 135 47 0 0 0.000781405 0 0 HCN4 10021 broad.mit.edu 37 15 73624501 73624501 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:73624501C>T uc002avp.3 - 2 2336 c.1342G>A c.(1342-1344)Gac>Aac p.D448N NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA. 448 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) ACCCAGCAGTCGTCAGGGAAG 0.622000 28 34 0 0 0.00148497 0 0 OR4B1 119765 broad.mit.edu 37 11 48239105 48239105 + Silent SNP T C C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:48239105T>C uc010rhs.2 + 0 744 c.744T>C c.(742-744)ttT>ttC p.F248F NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA. 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 TCATCTTGTTTTTTGGACCTG 0.473000 51 15 0 0 0.000422831 0 0 FGD4 121512 broad.mit.edu 37 12 32755164 32755164 + Nonsense_Mutation SNP T A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:32755164T>A uc010ske.2 + 6 1326 c.1242T>A c.(1240-1242)taT>taA p.Y414* FGD4_uc001rlc.3_Nonsense_Mutation_p.Y387*|FGD4_uc001rky.3_Nonsense_Mutation_p.Y54*|FGD4_uc001rkz.3_Nonsense_Mutation_p.Y302*|FGD4_uc001rla.3_5'UTR|FGD4_uc001rlb.1_Non-coding_Transcript NM_139241 NP_640334 Q96M96 FGD4_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA. 302 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) ATGGAGAATATGTGAAAGGAT 0.348000 212 29 0 0 0.000339439 0 0 TPX2 22974 broad.mit.edu 37 20 30385293 30385293 + Silent SNP C A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:30385293C>A uc002wwp.1 + 15 2618 c.1920C>A c.(1918-1920)ccC>ccA p.P640P TPX2_uc010gdv.1_Silent_p.P676P NM_012112 NP_036244 Q9ULW0 TPX2_HUMAN Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA. 640 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) CCTTTGTTCCCAAGAAAGAGA 0.458000 232 11 0.00136819 0.00899883 0.00136819 1 0 PHKA2 5256 broad.mit.edu 37 X 18958111 18958111 + Splice_Site SNP A G G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:18958111A>G uc004cyv.4 - 9 1348 c.918_splice c.e9+1 p.E306_splice NM_000292 NP_000283 P46019 KPB2_HUMAN Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA. 306 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) TTTAAATACAACCTCTCTTGG 0.353000 30 72 0 0 0.000781405 0 0 MAP3K4 4216 broad.mit.edu 37 6 161470199 161470199 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:161470199C>T uc003qtn.3 + 2 1037 c.895C>T c.(895-897)Ctt>Ttt p.L299F MAP3K4_uc010kkc.1_Missense_Mutation_p.L299F|MAP3K4_uc003qto.3_Missense_Mutation_p.L299F|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA. 299 JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TAATGAAATCCTTACTTTCAA 0.443000 33 16 0 0 0.000308642 0 0 STON2 85439 broad.mit.edu 37 14 81744845 81744845 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:81744845C>T uc010tvu.2 - 3 1008 c.810G>A c.(808-810)atG>atA p.M270I STON2_uc001xvk.1_Missense_Mutation_p.M270I|STON2_uc010tvt.2_Missense_Mutation_p.M67I NM_033104 NP_149095 Q8WXE9 STON2_HUMAN Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA. 270 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) TAAATGATCCCATTGAATTAT 0.448000 94 42 0 0 0.00148497 0 0 TRIM4 89122 broad.mit.edu 37 7 99490188 99490188 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:99490188G>A uc003usd.3 - 6 1300 c.1101C>T c.(1099-1101)ccC>ccT p.P367P TRIM4_uc003use.3_Silent_p.P341P|TRIM4_uc011kjc.2_Silent_p.P197P NM_033017 NP_148977 Q9C037 TRIM4_HUMAN Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA. 367 B30.2/SPRY. P -> S (in dbSNP:rs35432946). protein trimerization cytoplasm|plasma membrane zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 17 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) CCAGAACACAGGGTAAGTGCT 0.478000 58 20 0 0 0.00121646 0 0 DHRS9 10170 broad.mit.edu 37 2 169938402 169938402 + Missense_Mutation SNP A T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:169938402A>T uc010zdc.2 + 1 603 c.491A>T c.(490-492)aAa>aTa p.K164I DHRS9_uc002uep.3_Missense_Mutation_p.K104I|DHRS9_uc002ueq.3_Missense_Mutation_p.K104I|DHRS9_uc002uer.1_Missense_Mutation_p.K104I|DHRS9_uc010zdd.2_Missense_Mutation_p.K104I|DHRS9_uc010zde.2_Missense_Mutation_p.K104I NM_199204 NP_954674 Q9BPW9 DHRS9_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA. 104 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 GTTGGGGAGAAAGGTGAGAGA 0.488000 14 10 0 0 0.000978159 0 0 FAM154A 158297 broad.mit.edu 37 9 18928465 18928465 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:18928465G>A uc003zni.2 - 3 1360 c.1010C>T c.(1009-1011)tCt>tTt p.S337F FAM154A_uc010mip.2_Missense_Mutation_p.S145F NM_153707 NP_714918 Q8IYX7 F154A_HUMAN Homo sapiens family with sequence similarity 154, member A (FAM154A), mRNA. 337 breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1) 26 GBM - Glioblastoma multiforme(50;6.53e-16) GGTGGTGGAAGAGCCTTCAAA 0.592000 28 34 0 0 0.00111076 0 0 EXD1 161829 broad.mit.edu 37 15 41483671 41483671 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:41483671G>A uc010ucv.2 - 9 1105 c.833C>T c.(832-834)tCc>tTc p.S278F EXD1_uc001znj.3_5'Flank|EXD1_uc001znk.3_Missense_Mutation_p.S220F NM_152596 NP_689809 Q8NHP7 EXD1_HUMAN Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA. 220 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 TTCTAGAAAGGAGAGATATTT 0.383000 61 9 0 0 0.000673444 0 0 DSG3 1830 broad.mit.edu 37 18 29037053 29037053 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr18:29037053G>A uc002kws.3 + 2 291 c.182G>A c.(181-183)gGa>gAa p.G61E NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 61 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGCAGAGAAGGAGAAGATAAC 0.338000 22 18 0 0 0.000566183 0 0 CEP85L 387119 broad.mit.edu 37 6 118886834 118886834 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:118886834G>A uc003pya.2 - 3 954 c.887C>T c.(886-888)tCc>tTc p.S296F CEP85L_uc003pxz.2_Missense_Mutation_p.S293F|CEP85L_uc003pyb.3_Missense_Mutation_p.S293F|CEP85L_uc011ebj.2_Missense_Mutation_p.S191F|CEP85L_uc003pyc.3_Missense_Mutation_p.S296F|CEP85L_uc011ebl.1_Missense_Mutation_p.S191F NM_001178035 NP_001171506 Q5SZL2 CF204_HUMAN Homo sapiens centrosomal protein 85kDa-like (CEP85L), transcript variant 3, mRNA. 293 centrosome AGTCCTTACGGAAGGCTGAAT 0.463000 28 16 0 0 0.000566183 0 0 OR5H15 403274 broad.mit.edu 37 3 97888154 97888154 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:97888154G>A uc011bgu.2 + 0 611 c.611G>A c.(610-612)gGt>gAt p.G204D NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA. 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S203T(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 ATTTTCTCAGGTTCAATTCAG 0.323000 16 7 0 0 0.000274275 0 0 NAB2 4665 broad.mit.edu 37 12 57485769 57485769 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:57485769C>T uc001smz.3 + 1 1323 c.945C>T c.(943-945)ctC>ctT p.L315L NM_005967 NP_005958 Q15742 NAB2_HUMAN Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA. 315 NCD2. cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 GCAAGCAGCTCAGCCTGCACG 0.547000 36 10 0 0 0.000442599 0 0 BDP1 55814 broad.mit.edu 37 5 70805569 70805569 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:70805569C>T uc003kbp.1 + 16 2913 c.2650C>T c.(2650-2652)Ccc>Tcc p.P884S BDP1_uc003kbn.1_Missense_Mutation_p.P884S|BDP1_uc003kbo.3_Missense_Mutation_p.P884S NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA. 884 9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AGCCATTTCTCCCAGGGAGAA 0.418000 19 18 0 0 0.000566183 0 0 PPFIA2 8499 broad.mit.edu 37 12 81734965 81734965 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:81734965C>T uc001szo.2 - 19 2446 c.2285G>A c.(2284-2286)gGt>gAt p.G762D PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.G688D|PPFIA2_uc021rbh.1_Missense_Mutation_p.G663D|PPFIA2_uc021rbi.1_Missense_Mutation_p.G762D|PPFIA2_uc021rbj.1_Missense_Mutation_p.G762D|PPFIA2_uc021rbk.1_Missense_Mutation_p.G744D|PPFIA2_uc021rbl.1_Missense_Mutation_p.G762D|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.G329D|PPFIA2_uc021rbf.1_5'UTR NM_003625 NP_003616 B7Z663 B7Z663_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA. 688 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 GTCCTCTCGACCATCTTCTTC 0.393000 45 19 0 0 0.000958276 0 0 UCP3 7352 broad.mit.edu 37 11 73715038 73715038 + Missense_Mutation SNP G C C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:73715038G>C uc001our.3 - 5 1013 c.658C>G c.(658-660)Cac>Gac p.H220D UCP3_uc001ous.2_Missense_Mutation_p.H220D NM_003356 NP_003347 P55916 UCP3_HUMAN Homo sapiens uncoupling protein 3 (mitochondrial, proton carrier) (UCP3), nuclear gene encoding mitochondrial protein, transcript variant long, mRNA. 220 mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Breast(11;2.08e-05) GAGACAAAGTGGCAGGGGAAG 0.532000 20 6 0 0 0.00116845 0 0 EIF3L 51386 broad.mit.edu 37 22 38273740 38273740 + Silent SNP C A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr22:38273740C>A uc003auf.3 + 10 1215 c.1137C>A c.(1135-1137)ccC>ccA p.P379P EIF3L_uc011ann.2_Silent_p.P331P|EIF3L_uc003aug.3_Silent_p.P271P NM_016091 NP_057175 Q9Y262 EIF3L_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA. 379 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CGATGTACCCCATGCGTATTG 0.512000 54 21 1.00905e-13 6.82628e-13 0.00121646 1 0 RP1L1 94137 broad.mit.edu 37 8 10469143 10469143 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:10469143C>T uc003wtc.3 - 3 2694 c.2465G>A c.(2464-2466)cGa>cAa p.R822Q NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 822 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GCAGTGGCTTCGGTGGGGGCC 0.701000 21 14 0 0 0.000219431 0 0 CSF2RA 1438 broad.mit.edu 37 X 1407513 1407513 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:1407513G>A uc010nct.2 + 5 643 c.321G>A c.(319-321)caG>caA p.Q107Q CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.Q107Q|CSF2RA_uc004cpq.2_Silent_p.Q107Q|CSF2RA_uc004cpn.2_Silent_p.Q107Q|CSF2RA_uc004cpo.2_Silent_p.Q107Q|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Silent_p.Q107Q|CSF2RA_uc010ncv.2_Silent_p.Q107Q|CSF2RA_uc004cpr.2_Silent_p.Q107Q NM_001161529 NP_001155004 P15509 CSF2R_HUMAN Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA. 107 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GATTTCAACAGAAACTGCTTT 0.453000 91 96 0 0 0.000781405 0 0 SLC12A6 9990 broad.mit.edu 37 15 34547529 34547529 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:34547529G>A uc001zhw.3 - 6 974 c.810C>T c.(808-810)ctC>ctT p.L270L SLC12A6_uc001zhv.3_Silent_p.L219L|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Silent_p.L255L|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Silent_p.L211L|SLC12A6_uc001zib.3_Silent_p.L261L|SLC12A6_uc001zic.3_Silent_p.L270L|SLC12A6_uc010bau.3_Silent_p.L270L|SLC12A6_uc001zid.3_Silent_p.L211L|SLC12A6_uc001zhu.3_Silent_p.L82L NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA. 270 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) GATAAAAGCAGAGGCCAACAG 0.443000 97 17 0 0 0.000422831 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106558471 106558471 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:106558471C>T uc009yxn.1 - 8 2486 c.2096G>A c.(2095-2097)cGa>cAa p.R699Q GUCY1A2_uc001pjg.1_Missense_Mutation_p.R668Q|GUCY1A2_uc010rvo.1_Missense_Mutation_p.R689Q NM_000855 NP_000846 P33402 GCYA2_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA. 668 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding p.E698V(1)|p.V699L(1) breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) ACTTTCTTCTCGTTTTAATAA 0.403000 52 43 0 0 0.000374591 0 0 EHD4 30844 broad.mit.edu 37 15 42193093 42193093 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:42193093G>A uc001zot.3 - 5 1439 c.1376C>T c.(1375-1377)tCg>tTg p.S459L NM_139265 NP_644670 Q9H223 EHD4_HUMAN Homo sapiens EH-domain containing 4 (EHD4), mRNA. 459 EH. endocytic recycling|protein homooligomerization early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1) 20 all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538) ATTGATGGGCGACAGAGTGTA 0.602000 39 8 0 0 0.000274275 0 0 GPR78 27201 broad.mit.edu 37 4 8582880 8582880 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:8582880G>A uc003glk.3 + 0 664 c.171G>A c.(169-171)gcG>gcA p.A57A GPR78_uc021xlj.1_Intron|CPZ_uc003gll.3_Non-coding_Transcript NM_080819 NP_543009 Q96P69 GPR78_HUMAN Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA. 57 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 TGCTGGCGGCGCTGGACATGC 0.662000 23 6 0 0 0.00116845 0 0 OR2M7 391196 broad.mit.edu 37 1 248487313 248487313 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:248487313G>A uc010pzk.2 - 0 558 c.558C>T c.(556-558)atC>atT p.I186I NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA. 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|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;0.0265) TGCATGAGAGGATTAGTAGGG 0.423000 205 39 0 0 0.00128727 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130342971 130342971 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:130342971C>T uc010scd.2 + 7 2108 c.2108C>T c.(2107-2109)cCc>cTc p.P703L NM_139055 NP_620686 Q8TE58 ATS15_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA. 703 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GTGGCCATCCCCGCAGGCGCC 0.592000 54 15 0 0 0.000422831 0 0 EYA1 2138 broad.mit.edu 37 8 72127949 72127949 + Missense_Mutation SNP C G G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:72127949C>G uc003xyu.3 - 14 2015 c.1375G>C c.(1375-1377)Gct>Cct p.A459P EYA1_uc003xyt.4_Missense_Mutation_p.A426P|EYA1_uc003xyr.4_Missense_Mutation_p.A424P|EYA1_uc010lzf.3_Missense_Mutation_p.A386P|EYA1_uc003xys.4_Missense_Mutation_p.A459P|EYA1_uc011lfe.2_Missense_Mutation_p.A453P|EYA1_uc003xyv.3_Missense_Mutation_p.A337P NM_000503 NP_742055 Q99502 EYA1_HUMAN Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA. 459 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TCCCTCTTAGCTGGACCAAGC 0.473000 26 7 0 0 8.12818e-05 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187693433 187693433 + Missense_Mutation SNP T G G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:187693433T>G uc002upu.1 - 8 1220 c.1180A>C c.(1180-1182)Act>Cct p.T394P NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA. 394 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TTTTTCCAAGTTAAAGGGTTA 0.348000 19 16 0 0 0.000422831 0 0 CEACAM18 729767 broad.mit.edu 37 19 51986421 51986421 + Missense_Mutation SNP A G G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:51986421A>G uc002pwv.1 + 4 1007 c.1007A>G c.(1006-1008)aAc>aGc p.N336S NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA. 336 Ig-like C2-type. integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TCCCTCCTGAACTTCTCAGAT 0.517000 84 26 0 0 0.00047179 0 0 C1orf227 149643 broad.mit.edu 37 1 213009387 213009387 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:213009387C>T uc001hjq.3 - 1 213 c.105G>A c.(103-105)gtG>gtA p.V35V NM_001024601 NP_001019772 Q537H7 CA227_HUMAN Homo sapiens chromosome 1 open reading frame 227 (C1orf227), mRNA. 35 kidney(1)|large_intestine(1)|lung(1) 3 TGCTTCGTTCCACCAAGCAGT 0.418000 150 30 0 0 0.000339439 0 0 PLCG2 5336 broad.mit.edu 37 16 81819628 81819628 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:81819628G>A uc002fgt.3 + 1 212 c.34G>A c.(34-36)Gaa>Aaa p.E12K PLCG2_uc010chg.1_Missense_Mutation_p.E12K NM_002661 NP_002652 P16885 PLCG2_HUMAN Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA. 12 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 TTCCCTTGCGGAATATGAGAA 0.552000 41 18 0 0 0.000566183 0 0 TMOD1 7111 broad.mit.edu 37 9 100361935 100361935 + Silent SNP G T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:100361935G>T uc004axl.2 + 9 1171 c.1035G>T c.(1033-1035)gcG>gcT p.A345A TMOD1_uc004axk.2_Silent_p.A345A NM_001166116 NP_003266 P28289 TMOD1_HUMAN Homo sapiens tropomodulin 1 (TMOD1), transcript variant 2, mRNA. 345 muscle filament sliding cytosol actin binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1) 11 Acute lymphoblastic leukemia(62;0.154) STAD - Stomach adenocarcinoma(157;0.105) GGAGGCTTGCGGACCTGACTG 0.522000 OREG0019346 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 4 0.000602214 0.00398546 0.000602214 1 0 TG 7038 broad.mit.edu 37 8 134144179 134144179 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:134144179C>T uc003ytw.3 + 45 8027 c.7986C>T c.(7984-7986)ttC>ttT p.F2662F TG_uc010mdw.3_Silent_p.F1421F|TG_uc011ljb.2_Silent_p.F1031F|TG_uc011ljc.2_Silent_p.F795F NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 2662 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TTTCCCACTTCATCAGATCAG 0.493000 69 22 0 0 0.00047179 0 0 DNAH5 1767 broad.mit.edu 37 5 13823393 13823393 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:13823393C>T uc003jfd.2 - 39 6708 c.6666G>A c.(6664-6666)ctG>ctA p.L2222L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2222 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTGCTGCTTCCAGTTCAGGGT 0.413000 Kartagener syndrome 104 27 0 0 0.00106085 0 0 C2orf71 388939 broad.mit.edu 37 2 29294562 29294562 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:29294562C>T uc002rmt.2 - 0 2566 c.2566G>A c.(2566-2568)Gag>Aag p.E856K NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA. 856 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 GGGGAGTTCTCTGTGGACTTG 0.602000 52 33 0 0 0.000491102 0 0 TLR4 7099 broad.mit.edu 37 9 120476725 120476725 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:120476725G>A uc004bjz.3 + 2 2610 c.2319G>A c.(2317-2319)aaG>aaA p.K773K TLR4_uc004bkb.3_Silent_p.K573K|TLR4_uc004bka.3_Silent_p.K733K NM_138554 NP_612564 O00206 TLR4_HUMAN Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA. 773 TIR. I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 TCCTGCAGAAGGTGGAGAAGA 0.542000 52 11 0 0 0.000673444 0 0 FAM193A 8603 broad.mit.edu 37 4 2701826 2701826 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:2701826C>T uc010ick.3 + 17 3655 c.3654C>T c.(3652-3654)ctC>ctT p.L1218L FAM193A_uc003gfd.3_Silent_p.L1018L|FAM193A_uc011bvm.2_Silent_p.L1040L|FAM193A_uc011bvn.2_Silent_p.L1018L|FAM193A_uc010icl.3_Silent_p.L1018L|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Silent_p.L872L NM_003704 NP_003695 P78312 F193A_HUMAN Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA. 1018 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 AATTTCTCCTCCCCAAGGAGG 0.547000 41 32 0 0 0.000409698 0 0 HIVEP3 59269 broad.mit.edu 37 1 42049328 42049328 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:42049328G>A uc001cgz.4 - 3 2354 c.1141C>T c.(1141-1143)Ctg>Ttg p.L381L HIVEP3_uc001cha.4_Silent_p.L381L|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 381 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CCTGGGCTCAGAAACGCCTGC 0.567000 41 11 0 0 0.000673444 0 0 SHANK2 22941 broad.mit.edu 37 11 70331907 70331907 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:70331907C>T uc001oqc.3 - 20 4405 c.4293G>A c.(4291-4293)cgG>cgA p.R1431R SHANK2_uc010rqn.2_Silent_p.R907R|SHANK2_uc001opz.3_Silent_p.R902R|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 1118 SAM. intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CGCTGCTACTCCGGCTGTCCA 0.592000 28 28 0 0 0.00106085 0 0 COL22A1 169044 broad.mit.edu 37 8 139833411 139833411 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:139833411C>T uc003yvd.3 - 6 1660 c.1213G>A c.(1213-1215)Ggc>Agc p.G405S NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 405 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) AGGCGCTTGCCAATCACAGTC 0.597000 HNSCC(7;0.00092) 24 9 0 0 0.000978159 0 0 MYO15A 51168 broad.mit.edu 37 17 18051410 18051410 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:18051410G>A uc021trm.1 + 29 6796 c.6577G>A c.(6577-6579)Ggc>Agc p.G2193S MYO15A_uc021trl.1_Missense_Mutation_p.G2191S NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 2193 MyTH4 1.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GCAGGCCATGGGCCGGGCCCA 0.627000 39 22 0 0 0.000375601 0 0 ATP2B4 493 broad.mit.edu 37 1 203669940 203669940 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:203669940G>A uc001gzw.3 + 5 1687 c.790G>A c.(790-792)Gaa>Aaa p.E264K ATP2B4_uc001gzv.3_Missense_Mutation_p.E264K|ATP2B4_uc009xaq.3_Missense_Mutation_p.E264K NM_001684 NP_001675 P23634 AT2B4_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA. 264 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CCATGTCATGGAAGGTTCTGG 0.458000 66 6 0 0 8.12818e-05 0 0 VPS54 51542 broad.mit.edu 37 2 64147595 64147595 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:64147595C>T uc002scq.3 - 13 2199 c.2036G>A c.(2035-2037)aGa>aAa p.R679K VPS54_uc002scp.3_Missense_Mutation_p.R667K|VPS54_uc002scn.3_5'Flank|VPS54_uc002sco.3_Missense_Mutation_p.R164K|VPS54_uc010fct.3_Missense_Mutation_p.R526K NM_016516 NP_057600 Q9P1Q0 VPS54_HUMAN Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA. 679 EER -> VGG (in Ref. 1; AAF37319). protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 CTTGGTTTTTCTCTCTTCATG 0.348000 36 23 0 0 0.000586117 0 0 COL5A3 50509 broad.mit.edu 37 19 10116637 10116637 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:10116637G>A uc002mmq.1 - 2 358 c.272C>T c.(271-273)tCc>tTc p.S91F NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 91 TSP N-terminal. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GATCAGCAAGGAGAAGTTCTC 0.617000 23 17 0 0 0.00074312 0 0 NUSAP1 51203 broad.mit.edu 37 15 41643263 41643263 + Missense_Mutation SNP A T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:41643263A>T uc001zns.4 + 3 648 c.384A>T c.(382-384)agA>agT p.R128S NUSAP1_uc001znr.4_Missense_Mutation_p.R128S|NUSAP1_uc001znt.4_Missense_Mutation_p.R113S|NUSAP1_uc001znv.4_Missense_Mutation_p.R127S|NUSAP1_uc010ucw.2_Missense_Mutation_p.R105S|NUSAP1_uc010bce.3_Missense_Mutation_p.R128S|NUSAP1_uc001znu.4_Missense_Mutation_p.R127S|NUSAP1_uc001znw.4_5'UTR NM_016359 NP_057443 Q9BXS6 NUSAP_HUMAN Homo sapiens nucleolar and spindle associated protein 1 (NUSAP1), transcript variant 1, mRNA. 128 cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis chromosome|cytoplasm|nucleolus DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2) 13 all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168) AGGATCTCAGAGCTACTGCAA 0.378000 21 15 0 0 0.000219431 0 0 MGMT 4255 broad.mit.edu 37 10 131506261 131506261 + Silent SNP C T T rs112373357 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:131506261C>T uc001lkh.2 + 2 347 c.321C>T c.(319-321)atC>atT p.I107I NM_002412 NP_002403 B4DEE8 B4DEE8_HUMAN Homo sapiens O-6-methylguanine-DNA methyltransferase (MGMT), mRNA. 107 p.V106V(1)|p.I76I(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 10 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) CCGAGGCTATCGAAGAGTTCC 0.597000 Direct reversal of damage 53 19 0 0 0.00121646 0 0 SLC22A6 9356 broad.mit.edu 37 11 62744811 62744811 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:62744811G>A uc001nwk.3 - 8 1743 c.1410C>T c.(1408-1410)atC>atT p.I470I SLC22A6_uc001nwl.3_Intron|SLC22A6_uc001nwj.3_Silent_p.I470I|SLC22A6_uc001nwm.3_Intron NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA. 470 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GTGGGCTCACGATGCTGCCCA 0.622000 25 6 0 0 8.12818e-05 0 0 NTRK1 4914 broad.mit.edu 37 1 156843583 156843583 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:156843583G>A uc001fqh.1 + 7 1065 c.1009G>A c.(1009-1011)Gcc>Acc p.A337T NTRK1_uc001fqf.1_Missense_Mutation_p.A307T|NTRK1_uc009wsi.1_Missense_Mutation_p.A42T|NTRK1_uc001fqi.1_Missense_Mutation_p.A337T|NTRK1_uc009wsk.1_Missense_Mutation_p.A337T NM_002529 NP_002520 P04629 NTRK1_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA. 337 Ig-like C2-type 2. Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity p.A336E(3) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) GGAGCCGGCAGCCAATGAGAC 0.632000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 11 9 0 0 0.00136819 0 0 SOCS2 8835 broad.mit.edu 37 12 93968909 93968909 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:93968909C>T uc001tcw.1 + 2 1141 c.551C>T c.(550-552)cCa>cTa p.P184L SOCS2_uc021rbx.1_Missense_Mutation_p.P184L|SOCS2_uc001tcy.1_Missense_Mutation_p.P184L|SOCS2_uc001tcz.3_3'UTR NM_003877 NP_003868 O14508 SOCS2_HUMAN Homo sapiens suppressor of cytokine signaling 2 (SOCS2), mRNA. 184 SOCS box. JAK-STAT cascade|anti-apoptosis|growth hormone receptor signaling pathway|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus cytoplasm JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|growth hormone receptor binding|insulin-like growth factor receptor binding|prolactin receptor binding cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1) 14 CTGCCTTTACCAACAAGACTA 0.408000 32 5 0 0 0.000602214 0 0 PTPN4 5775 broad.mit.edu 37 2 120702673 120702673 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:120702673G>A uc002tmf.1 + 15 2143 c.1372G>A c.(1372-1374)Gga>Aga p.G458R PTPN4_uc010flj.1_Missense_Mutation_p.G171R|PTPN4_uc010yyr.1_Missense_Mutation_p.G91R NM_002830 NP_002821 P29074 PTN4_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA. 458 cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) AGAGACCCCTGGAGATGGGAA 0.373000 55 12 0 0 0.000151284 0 0 CASP10 843 broad.mit.edu 37 2 202074282 202074282 + Missense_Mutation SNP C A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:202074282C>A uc002uxj.1 + 8 1830 c.1412C>A c.(1411-1413)cCa>cAa p.P471Q CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Missense_Mutation_p.P404Q|CASP10_uc002uxk.1_Missense_Mutation_p.P428Q|CASP10_uc002uxl.2_Missense_Mutation_p.P471Q|CASP10_uc002uxm.2_Missense_Mutation_p.P428Q NM_032977 NP_116759 Q92851 CASPA_HUMAN Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA. 471 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding p.P471Q(3) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 AAATTGGTCCCAAGGTGAGAG 0.388000 110 7 0.000157383 0.00104971 0.000157383 1 0 MLL 4297 broad.mit.edu 37 11 118344497 118344497 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:118344497G>A uc001pta.3 + 2 2646 c.2623G>A c.(2623-2625)Gag>Aag p.E875K MLL_uc001ptb.3_Missense_Mutation_p.E875K|MLL_uc001psz.1_Missense_Mutation_p.E908K|MLL_uc001ptd.1_Intron NM_005933 NP_005924 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA. 875 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) caagagtagagagagagaccg 0.473000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 11 20 0 0 0.000958276 0 0 CNKSR2 22866 broad.mit.edu 37 X 21613508 21613508 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:21613508G>A uc004czx.2 + 16 2451 c.1971G>A c.(1969-1971)atG>atA p.M657I CNKSR2_uc004czw.3_Missense_Mutation_p.M657I|CNKSR2_uc011mjn.2_Missense_Mutation_p.M608I|CNKSR2_uc011mjo.2_Missense_Mutation_p.M627I|CNKSR2_uc004czy.3_Missense_Mutation_p.M249I NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA. 657 PH. regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 TTGATGATATGAACAGGTAAA 0.323000 12 32 0 0 0.000491102 0 0 MBL2 4153 broad.mit.edu 37 10 54528199 54528199 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:54528199C>T uc001jjt.3 - 3 510 c.445G>A c.(445-447)Gaa>Aaa p.E149K NM_000242 NP_000233 P11226 MBL2_HUMAN Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA. 149 C-type lectin. acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 TTCACTTTTTCAAAGGTCATT 0.473000 79 28 0 0 0.00106085 0 0 GANC 2595 broad.mit.edu 37 15 42641592 42641593 + Missense_Mutation DNP GG TT TT TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:42641592_42641593GG>TT uc001zpi.3 + 21 2744_2745 c.2430_2431GG>TT c.(2428-2433)gtgggt>gtTTgt p.G811C CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_5'UTR NM_198141 NP_937784 Q8TET4 GANC_HUMAN Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA. 811 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) GTTCTTCAGTGGGTGAGTTATA 0.396000 117 6 0 0 6.4e-05 0 0 SCN10A 6336 broad.mit.edu 37 3 38753871 38753871 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:38753871G>A uc003ciq.3 - 21 3870 c.3870C>T c.(3868-3870)atC>atT p.I1290I NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1290 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGAGCCAGAAGATGAGGCAGA 0.527000 39 13 0 0 0.000151284 0 0 TRANK1 9881 broad.mit.edu 37 3 36898686 36898686 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:36898686G>A uc003cgj.3 - 11 2643 c.2395C>T c.(2395-2397)Ctg>Ttg p.L799L NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 799 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 AGCTTCTTCAGCATTTCTGAA 0.512000 120 59 0 0 0.000781405 0 0 CSMD2 114784 broad.mit.edu 37 1 34087804 34087804 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:34087804G>A uc001bxm.1 - 36 5967 c.5790C>T c.(5788-5790)atC>atT p.I1930I CSMD2_uc001bxn.1_Silent_p.I1890I|CSMD2_uc001bxo.1_Silent_p.I803I NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1890 Sushi 11. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CAGATACGCTGATATCTGAGT 0.517000 51 58 0 0 0.000781405 0 0 PRKCG 5582 broad.mit.edu 37 19 54403571 54403571 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:54403571C>T uc002qcq.1 + 11 1648 c.1366C>T c.(1366-1368)Cat>Tat p.H456Y PRKCG_uc010yeg.1_Missense_Mutation_p.H456Y|PRKCG_uc010yeh.1_Missense_Mutation_p.H343Y NM_002739 NP_002730 P05129 KPCG_HUMAN Homo sapiens protein kinase C, gamma (PRKCG), mRNA. 456 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) TAAGGAGCCCCATGCAGCGTG 0.592000 22 8 0 0 0.000157383 0 0 GCG 2641 broad.mit.edu 37 2 163000618 163000618 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:163000618G>A uc002ucc.3 - 4 711 c.455C>T c.(454-456)tCt>tTt p.S152F NM_002054 NP_002045 P01275 GLUC_HUMAN Homo sapiens glucagon (GCG), mRNA. 152 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9) 14 Exenatide(DB01276)|Phentolamine(DB00692) CATCTCATCAGAGAAAGAACC 0.393000 74 18 0 0 0.00121646 0 0 MYOF 26509 broad.mit.edu 37 10 95097616 95097616 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:95097616C>T uc001kin.3 - 39 4516 c.4393G>A c.(4393-4395)Gaa>Aaa p.E1465K MYOF_uc001kio.3_Missense_Mutation_p.E1452K|MYOF_uc009xue.3_Non-coding_Transcript NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA. 1465 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CCGCATTTTTCATGTTCCCCT 0.423000 53 17 0 0 0.00152264 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475705 140475705 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:140475705C>T uc003lil.3 + 0 1469 c.1331C>T c.(1330-1332)tCc>tTc p.S444F PCDHB2_uc003lim.1_Missense_Mutation_p.S105F NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN Homo sapiens protocadherin beta 2 (PCDHB2), mRNA. 444 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTGCTGGTCTCCGACGTCAAT 0.607000 36 43 0 0 0.000680045 0 0 CC2D2A 57545 broad.mit.edu 37 4 15556783 15556783 + Missense_Mutation SNP A G G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:15556783A>G uc010idv.2 + 20 2820 c.2575A>G c.(2575-2577)Aag>Gag p.K859E CC2D2A_uc003gnx.3_Missense_Mutation_p.K810E|CC2D2A_uc003gnz.1_Non-coding_Transcript|CC2D2A_uc003goa.1_Non-coding_Transcript NM_001080522 NP_001073991 Q9P2K1 C2D2A_HUMAN Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 1, mRNA. 859 cell projection organization cilium|microtubule basal body p.K810Q(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 AGCAGAGTCCAAGCTCGACCC 0.468000 33 8 0 0 0.000274275 0 0 SLC17A5 26503 broad.mit.edu 37 6 74351495 74351495 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:74351495G>A uc003phn.4 - 2 572 c.444C>T c.(442-444)gtC>gtT p.V148V SLC17A5_uc010kay.3_Non-coding_Transcript|SLC17A5_uc011dyo.1_Missense_Mutation_p.P47S NM_012434 NP_036566 Q9NRA2 S17A5_HUMAN Homo sapiens solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5), mRNA. 148 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity p.A147V(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ACAGGGTGAGGACAGCAGTGC 0.453000 65 33 0 0 0.000409698 0 0 RXFP2 122042 broad.mit.edu 37 13 32376445 32376445 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr13:32376445C>T uc001utt.3 + 17 2239 c.2168C>T c.(2167-2169)tCt>tTt p.S723F RXFP2_uc010aba.3_Missense_Mutation_p.S699F NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA. 723 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) AAAAGTTTATCTACATCCATT 0.353000 197 50 0 0 0.000781405 0 0 BANK1 55024 broad.mit.edu 37 4 102783700 102783700 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:102783700C>T uc003hvy.4 + 3 916 c.642C>T c.(640-642)ttC>ttT p.F214F BANK1_uc003hvx.4_Silent_p.F199F|BANK1_uc010ill.3_Silent_p.F81F|BANK1_uc003hvz.4_Silent_p.F184F NM_017935 NP_001077376 Q8NDB2 BANK1_HUMAN Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA. 214 DBB. B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) GTGAAATATTCATAATTTTGA 0.318000 39 15 0 0 0.000422831 0 0 MUC16 94025 broad.mit.edu 37 19 9061972 9061972 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:9061972C>T uc002mkp.3 - 2 25678 c.25474G>A c.(25474-25476)Gaa>Aaa p.E8492K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8494 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 ATGGCACTTTCTGCTGATTCT 0.498000 118 43 0 0 0.000589545 0 0 LYVE1 10894 broad.mit.edu 37 11 10585851 10585851 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:10585851C>T uc001miv.2 - 1 442 c.156G>A c.(154-156)ctG>ctA p.L52L MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|LYVE1_uc010rca.1_Intron NM_006691 NP_006682 Q9Y5Y7 LYVE1_HUMAN Homo sapiens lymphatic vessel endothelial hyaluronan receptor 1 (LYVE1), mRNA. 52 Link. anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport integral to plasma membrane|membrane fraction central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609) CTGTGAAATTCAGCTGCTGGT 0.483000 37 15 0 0 0.000219431 0 0 GABRG2 2566 broad.mit.edu 37 5 161569245 161569245 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:161569245C>T uc010jjc.3 + 7 1323 c.965C>T c.(964-966)cCc>cTc p.P322L GABRG2_uc003lyy.4_Missense_Mutation_p.P282L|GABRG2_uc003lyz.4_Missense_Mutation_p.P282L|GABRG2_uc011dej.2_Missense_Mutation_p.P187L NM_198903 NP_944493 P18507 GBRG2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA. 282 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 p.A322T(1) 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) ACCTATATCCCCTGCACACTC 0.438000 41 63 0 0 0.000781405 0 0 IGHE 3497 broad.mit.edu 37 14 106066504 106066504 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:106066504C>T uc001yrw.1 - 4 1240 c.1228G>A c.(1228-1230)Gaa>Aaa p.E410K abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Missense_Mutation_p.E357K|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_Non-coding_Transcript RecName: Full=Ig epsilon chain C region; TGCTCCCATTCGGCCCTGGTC 0.632000 36 29 0 0 0.000878237 0 0 CATSPERB 79820 broad.mit.edu 37 14 92091309 92091309 + Silent SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:92091309C>T uc001xzs.1 - 17 1925 c.1785G>A c.(1783-1785)acG>acA p.T595T CATSPERB_uc010aub.1_Silent_p.T117T NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA. 595 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) CTTTAGGAGTCGTATGTTGCA 0.343000 36 12 0 0 0.000219431 0 0 MORN5 254956 broad.mit.edu 37 9 124929181 124929181 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:124929181G>A uc011lyn.2 + 1 244 c.182G>A c.(181-183)gGa>gAa p.G61E MORN5_uc011lyo.1_Missense_Mutation_p.G61E|MORN5_uc004blw.2_Missense_Mutation_p.G61E NM_198469 NP_940871 Q5VZ52 MORN5_HUMAN Homo sapiens MORN repeat containing 5 (MORN5), mRNA. 61 endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 9 TGGGAAAACGGATTGGCCATA 0.547000 21 4 0 0 0.000602214 0 0 CHST12 55501 broad.mit.edu 37 7 2473051 2473051 + Silent SNP C T T rs147486579 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:2473051C>T uc003smc.3 + 1 940 c.777C>T c.(775-777)ttC>ttT p.F259F CHST12_uc003smd.3_Silent_p.F259F|CHST12_uc021zyu.1_Silent_p.F259F|CHST12_uc021zyv.1_Silent_p.F259F NM_001243794 NP_001230723 Q9NRB3 CHSTC_HUMAN Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA. 259 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) GCAGCAAGTTCGAGCTGGAGA 0.632000 56 42 0 0 0.000509022 0 0 CLCA3P 9629 broad.mit.edu 37 1 87104551 87104551 + RNA SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:87104551C>T uc010osh.2 + 4 c.586C>T Homo sapiens chloride channel accessory 3, pseudogene (CLCA3P), non-coding RNA. endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5 ATGTTCCACTCGTATTACTGT 0.378000 7 11 0 0 0.00136819 0 0 MYH1 4619 broad.mit.edu 37 17 10400637 10400637 + Missense_Mutation SNP C T T rs139013228 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:10400637C>T uc002gmo.3 - 31 4592 c.4498G>A c.(4498-4500)Gaa>Aaa p.E1500K AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1500 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity p.E1500K(2) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TTCAAGGTTTCAAGTTGGTCT 0.328000 54 32 0 0 0.00111076 0 0 GPR128 84873 broad.mit.edu 37 3 100354664 100354664 + Silent SNP A C C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:100354664A>C uc003duc.3 + 4 859 c.591A>C c.(589-591)tcA>tcC p.S197S GPR128_uc011bhc.2_5'UTR NM_032787 NP_116176 Q96K78 GP128_HUMAN Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA. 197 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 GAAATGCTTCACCTGAGGTAA 0.368000 20 4 0 0 0.00024832 0 0 E2F8 79733 broad.mit.edu 37 11 19247144 19247144 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:19247144G>A uc001mpm.3 - 11 2567 c.2045C>T c.(2044-2046)tCa>tTa p.S682L E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.S682L NM_024680 NP_078956 A0AVK6 E2F8_HUMAN Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA. 682 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GAGTTCAGATGATGTCACTGG 0.453000 39 28 0 0 0.000409698 0 0 MBD5 55777 broad.mit.edu 37 2 149247024 149247024 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:149247024C>T uc002twm.4 + 11 4121 c.3124C>T c.(3124-3126)Cct>Tct p.P1042S MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_Missense_Mutation_p.P300S|MBD5_uc002twp.3_Missense_Mutation_p.P92S NM_018328 NP_060798 Q9P267 MBD5_HUMAN Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA. 1042 chromosome|nucleus DNA binding|chromatin binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) CACAGCACTTCCTGAGAATCC 0.468000 33 6 0 0 0.00116845 0 0 ANKRD26P3 100101938 broad.mit.edu 37 13 19868713 19868713 + RNA SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr13:19868713C>T uc010tck.2 - 12 c.1915G>A Homo sapiens ankyrin repeat domain 26 pseudogene 3 (ANKRD26P3), non-coding RNA. AGTGCTATCTCCTTTTGTTTG 0.373000 5 4 0 0 0.00024832 0 0 TEKT1 83659 broad.mit.edu 37 17 6718550 6718550 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:6718550G>A uc002gdt.3 - 4 671 c.561C>T c.(559-561)atC>atT p.I187I TEKT1_uc010vth.2_Silent_p.I41I NM_053285 NP_444515 Q969V4 TEKT1_HUMAN Homo sapiens tektin 1 (TEKT1), mRNA. 187 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.I187I(2) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) GCGAGAAGCAGATATCATCTA 0.488000 86 40 0 0 0.000509022 0 0 NLRP10 338322 broad.mit.edu 37 11 7984855 7984855 + Missense_Mutation SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:7984855G>A uc001mfv.1 - 0 205 c.188C>T c.(187-189)tCa>tTa p.S63L NM_176821 NP_789791 Q86W26 NAL10_HUMAN Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA. 63 DAPIN. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCCATACTTTGAAATCAGTAA 0.517000 51 16 0 0 0.00121646 0 0 C15orf27 123591 broad.mit.edu 37 15 76494549 76494549 + Missense_Mutation SNP C T T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:76494549C>T uc002bbq.3 + 9 1120 c.965C>T c.(964-966)aCg>aTg p.T322M C15orf27_uc010bkp.3_Missense_Mutation_p.T138M|C15orf27_uc002bbr.3_Missense_Mutation_p.T138M|C15orf27_uc002bbs.3_5'UTR NM_152335 NP_689548 Q2M3C6 CO027_HUMAN Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA. 322 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 GTAGAAGCCACGATGAAGGAC 0.532000 32 35 0 0 0.000374591 0 0 CEBPE 1053 broad.mit.edu 37 14 23588016 23588016 + Silent SNP G A A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:23588016G>A uc001wiv.2 - 0 805 c.285C>T c.(283-285)ttC>ttT p.F95F NM_001805 NP_001796 Q15744 CEBPE_HUMAN Homo sapiens CCAAT/enhancer binding protein (C/EBP), epsilon (CEBPE), mRNA. 95 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.F95F(2) large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) TGTCTGGGCCGAAGGTATGTG 0.697000 16 6 0 0 0.00116845 0 0 CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG - - TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:32670247_32670248delTG uc021okt.1 + 4 706_707 c.574_575delTG c.(574-576)tgtfs p.C192fs CCDC28B_uc001bul.1_Intron|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank NM_024296 NP_077272 Q9BUN5 CC28B_HUMAN Homo sapiens coiled-coil domain containing 28B (CCDC28B), mRNA. 0 p.A192V(1) large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 --- 158 --- --- 7 --- ATXN1 6310 broad.mit.edu 37 6 16327864 16327865 + In_Frame_Ins INS - TGC TGC TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:16327864_16327865insTGC uc003nbt.3 - 7 1648_1649 c.677_678insGCA c.(676-678)cac>caGCAc p.225_226insQ ATXN1_uc010jpi.3_In_Frame_Ins_p.225_226insQ|ATXN1_uc010jpj.1_Intron NM_000332 NP_001121636 P54253 ATX1_HUMAN Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA. 225 Poly-Gln. RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CCCTGCTGAGGtgctgctgctg 0.653 --- 4 --- --- 4 --- HEY1 23462 broad.mit.edu 37 8 80677926 80677927 + In_Frame_Ins INS - GTT GTT TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:80677926_80677927insGTT uc003ybm.3 - 4 611_612 c.411_412insAAC c.(409-414)insAAC p.137_138insN HEY1_uc010lzq.3_In_Frame_Ins_p.18_19insN|HEY1_uc003ybl.3_In_Frame_Ins_p.141_142insN NM_012258 NP_036390 Q9Y5J3 HEY1_HUMAN Homo sapiens hairy/enhancer-of-split related with YRPW motif 1 (HEY1), transcript variant 1, mRNA. 137 Orange. Notch signaling pathway|angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|transcription, DNA-dependent nucleus DNA binding|protein binding HEY1/NCOA2(10) cervix(1)|kidney(2)|large_intestine(5)|lung(14) 22 all_lung(9;5.1e-05) Epithelial(68;0.076)|all cancers(69;0.179) ATGATGCTCAGATAACGCGCAA 0.530 T NCOA2 mesenchymal chondrosarcoma OREG0018837 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) --- 67 --- --- 11 --- TENC1 23371 broad.mit.edu 37 12 53449380 53449380 + Frame_Shift_Del DEL A - - TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:53449380delA uc001sbp.3 + 8 737 c.602delA c.(601-603)catfs p.H201fs LOC283335_uc001sbk.1_5'Flank|TENC1_uc001sbl.3_Frame_Shift_Del_p.H77fs|TENC1_uc001sbm.3_Frame_Shift_Del_p.H211fs|TENC1_uc001sbn.3_Frame_Shift_Del_p.H211fs|TENC1_uc001sbo.1_Frame_Shift_Del_p.H201fs|TENC1_uc001sbq.3_5'Flank|TENC1_uc001sbr.3_5'Flank NM_170754 NP_938072 Q63HR2 TENC1_HUMAN Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA. 201 Phosphatase tensin-type. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 CCTGAGCTGCATGCTCCACCC 0.612 --- 35 --- --- 30 --- YY1 7528 broad.mit.edu 37 14 100705788 100705790 + In_Frame_Del DEL CCA - - rs76675246 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:100705788_100705790delCCA uc001ygy.1 + 0 687_689 c.207_209delCCA c.(205-210)ggccac>ggc p.H80del NM_003403 NP_003394 P25490 TYY1_HUMAN Homo sapiens YY1 transcription factor (YY1), mRNA. 80 Poly-His. cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) gGCACGCCGGccaccaccaccac 0.724 --- 6 --- --- 3 --- CYP19A1 1588 broad.mit.edu 37 15 51503156 51503163 + Frame_Shift_Del DEL AGTGTAAC - - rs141305220 byFrequency TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:51503156_51503163delAGTGTAAC uc001zyz.4 - 10 1605_1612 c.1354_1361delGTTACACT c.(1354-1362)gttacacttfs p.V452fs CYP19A1_uc001zza.4_Frame_Shift_Del_p.V452fs NM_031226 NP_112503 P11511 CP19A_HUMAN Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA. 452 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity p.L451I(1) endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) TCGTCTCAGAAGTGTAACGAGGATGGCT 0.462 --- 44 --- --- 22 --- ABCA8 10351 broad.mit.edu 37 17 66871424 66871425 + Frame_Shift_Del DEL GA - - TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:66871424_66871425delGA uc002jhq.3 - 36 4947_4948 c.4607_4608delTC c.(4606-4608)ttcfs p.F1536fs ABCA8_uc002jhp.3_Frame_Shift_Del_p.F1496fs|ABCA8_uc010wqq.2_Frame_Shift_Del_p.F1531fs NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 1496 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.D1536A(1) breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) CAGCCTGGGGGAAAAGCCTCAG 0.465 --- 76 --- --- 35 ---