Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut PHKA1 5255 broad.mit.edu 37 X 71840619 71840619 + Missense_Mutation SNP T T A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:71840619T>A ENST00000339490.3 - 19 2393 c.2093A>T c.(2092-2094)gAc>gTc p.D698V PHKA1_ENST00000373545.3_Intron|PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000373542.4_Missense_Mutation_p.D698V|PHKA1_ENST00000373539.3_Missense_Mutation_p.D698V NM_001122670.1 NP_001116142.1 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 698 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) GGACATTAAGTCGCAGGTTGT 0.537000 11 43 0 0 0.008291 0 0 DOCK11 139818 broad.mit.edu 37 X 117722150 117722150 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:117722150C>A ENST00000276204.6 + 17 1920 c.1846C>A c.(1846-1848)Caa>Aaa p.Q616K DOCK11_ENST00000276202.7_Missense_Mutation_p.Q616K|DOCK11_ENST00000498252.1_3'UTR Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 616 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 AAAGAATTGCCAAAATATTAC 0.318000 13 56 0.00010058 0.000115194 0.001368 1 0 SPATA31E1 286234 broad.mit.edu 37 9 90502170 90502170 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr9:90502170C>A ENST00000325643.5 + 4 2834 c.2768C>A c.(2767-2769)cCa>cAa p.P923Q NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CTCGCTGCCCCACCGCCTGAG 0.602000 8 26 0.000274275 0.000311465 0.004482 1 0 PAK3 5063 broad.mit.edu 37 X 110395675 110395675 + Splice_Site SNP G G C rs143591118 TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:110395675G>C ENST00000519681.1 + 9 973 c.531_splice c.e9+1 p.S177_splice PAK3_ENST00000417227.1_Splice_Site_p.S177_splice|PAK3_ENST00000518291.1_Splice_Site_p.S192_splice|PAK3_ENST00000372007.4_Splice_Site_p.S156_splice|PAK3_ENST00000425146.1_Splice_Site_p.S156_splice|PAK3_ENST00000360648.4_Splice_Site_p.S192_splice|PAK3_ENST00000372010.1_Splice_Site_p.S171_splice|PAK3_ENST00000446737.1_Splice_Site_p.S156_splice|PAK3_ENST00000262836.4_Splice_Site_p.S171_splice O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 171 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 CCCATCCTTCGGTAAGTGAAA 0.333000 TSP Lung(19;0.15) 9 33 0 0 0.006214 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140802988 140802988 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:140802988G>T ENST00000398587.2 + 1 2227 c.2194G>T c.(2194-2196)Ggg>Tgg p.G732W PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTGAAGGCGGGTTGGCAGG 0.587000 38 82 3.76114e-14 5.47818e-14 0.004289 1 0 NPC1L1 29881 broad.mit.edu 37 7 44573443 44573443 + Missense_Mutation SNP G G A rs149392392 TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr7:44573443G>A ENST00000289547.4 - 7 2231 c.2176C>T c.(2176-2178)Cgg>Tgg p.R726W NPC1L1_ENST00000423141.1_Intron|NPC1L1_ENST00000381160.3_Missense_Mutation_p.R726W|NPC1L1_ENST00000546276.1_Missense_Mutation_p.R726W NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 726 SSD. cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) CCAGGCCTCCGGGGCAGCCTC 0.652000 9 24 0 0 0.004482 0 0 DEFA5 1670 broad.mit.edu 37 8 6914118 6914118 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:6914118C>A ENST00000330590.2 - 1 138 c.102G>T c.(100-102)caG>caT p.Q34H NM_021010.1 NP_066290.1 Q01523 DEF5_HUMAN defensin, alpha 5, Paneth cell-specific 34 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space NS(1)|lung(4)|skin(1)|stomach(1) 7 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CTTCCCCAGACTGCTTCTGGG 0.537000 63 11 3.10202e-16 4.72353e-16 0.003610 1 0 ABCC8 6833 broad.mit.edu 37 11 17464360 17464360 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:17464360C>A ENST00000302539.4 - 10 1662 c.1537G>T c.(1537-1539)Gcc>Tcc p.A513S ABCC8_ENST00000389817.3_Missense_Mutation_p.A513S NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 513 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) TTCTCCCAGGCGTACAGCTTC 0.597000 25 32 7.33532e-06 9.14356e-06 0.003954 1 0 CLCN3 1182 broad.mit.edu 37 4 170628234 170628234 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr4:170628234G>T ENST00000513761.1 + 11 2525 c.1966G>T c.(1966-1968)Gac>Tac p.D656Y CLCN3_ENST00000347613.4_Missense_Mutation_p.D656Y|CLCN3_ENST00000360642.3_Missense_Mutation_p.D629Y|CLCN3_ENST00000504131.2_Missense_Mutation_p.D639Y NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 656 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) CCTGGCTGCTGACGTTATGAG 0.433000 20 50 9.95505e-16 1.49885e-15 0.002299 1 0 ADAMTS13 11093 broad.mit.edu 37 9 136307772 136307772 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr9:136307772C>T ENST00000371929.3 + 18 2586 c.2142C>T c.(2140-2142)gcC>gcT p.A714A ADAMTS13_ENST00000355699.2_Silent_p.A714A|ADAMTS13_ENST00000536611.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.A683A|ADAMTS13_ENST00000485925.1_Intron NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 714 TSP type-1 2. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) TGGACCAGGCCAGGAAGGAGT 0.662000 12 69 0 0 0.001368 0 0 ATP2B3 492 broad.mit.edu 37 X 152806836 152806836 + Silent SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:152806836T>C ENST00000370186.1 + 3 554 c.228T>C c.(226-228)aaT>aaC p.N76N ATP2B3_ENST00000349466.2_Silent_p.N76N|ATP2B3_ENST00000393842.1_Silent_p.N76N|ATP2B3_ENST00000370181.2_Silent_p.N76N|ATP2B3_ENST00000359149.3_Silent_p.N76N|ATP2B3_ENST00000263519.4_Silent_p.N76N Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 76 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ACAACACCAATGACCTGGAGA 0.627000 28 19 0 0 0.003271 0 0 PPFIBP2 8495 broad.mit.edu 37 11 7631629 7631629 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:7631629G>T ENST00000299492.4 + 6 982 c.594G>T c.(592-594)caG>caT p.Q198H PPFIBP2_ENST00000530181.1_Missense_Mutation_p.Q55H|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.Q86H|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.Q40H NM_003621.3 NP_003612.2 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 198 cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) AGAGAGAGCAGGAGGAGAAGC 0.502000 43 38 4.42602e-33 7.46022e-33 0.008740 1 0 LRRC7 57554 broad.mit.edu 37 1 70541966 70541966 + Silent SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:70541966T>C ENST00000310961.5 + 24 4615 c.4197T>C c.(4195-4197)gaT>gaC p.D1399D LRRC7_ENST00000415775.2_Silent_p.D725D|LRRC7_ENST00000035383.5_Silent_p.D1441D Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1441 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GGAGTATGGATGGATATCCAG 0.458000 12 70 0 0 0.000978 0 0 EXPH5 23086 broad.mit.edu 37 11 108384059 108384059 + Missense_Mutation SNP T T A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:108384059T>A ENST00000265843.4 - 6 2285 c.2175A>T c.(2173-2175)gaA>gaT p.E725D EXPH5_ENST00000428840.1_Missense_Mutation_p.E649D|EXPH5_ENST00000443411.1_Missense_Mutation_p.E537D|EXPH5_ENST00000525344.1_Missense_Mutation_p.E718D NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 725 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GTTGGGGTATTTCACCTGCCT 0.403000 7 62 0 0 0.001984 0 0 ADAL 161823 broad.mit.edu 37 15 43632517 43632517 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr15:43632517C>A ENST00000422466.2 + 7 884 c.310C>A c.(310-312)Cta>Ata p.L104I ADAL_ENST00000389651.4_Missense_Mutation_p.L104I|ADAL_ENST00000428046.3_Missense_Mutation_p.L104I|ADAL_ENST00000562188.1_Missense_Mutation_p.L104I Q6DHV7 ADAL_HUMAN adenosine deaminase-like 104 adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process adenosine deaminase activity|metal ion binding endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1) 7 all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;9.31e-07) GTACCTGGAACTAAGGAGCAC 0.373000 16 30 7.07596e-05 8.24503e-05 0.006122 1 0 GRAMD1B 57476 broad.mit.edu 37 11 123485517 123485517 + Silent SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:123485517C>A ENST00000529750.1 + 16 2190 c.1863C>A c.(1861-1863)tcC>tcA p.S621S GRAMD1B_ENST00000322282.7_Silent_p.S621S|GRAMD1B_ENST00000456860.2_Silent_p.S628S|GRAMD1B_ENST00000450171.2_Silent_p.S312S NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 621 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) AGAGCGTGTCCAAGCTGCTGC 0.567000 10 3 1.76689e-08 2.37954e-08 0.006214 1 0 FAM47B 170062 broad.mit.edu 37 X 34961679 34961679 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:34961679C>A ENST00000329357.5 + 1 767 c.731C>A c.(730-732)gCa>gAa p.A244E NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 244 Pro-rich. breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 GAGACTCGCGCATCTCATCTC 0.642000 22 78 3.83957e-06 4.8538e-06 0.002780 1 0 MUC16 94025 broad.mit.edu 37 19 9061703 9061703 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:9061703C>A ENST00000397910.4 - 3 25946 c.25743G>T c.(25741-25743)gaG>gaT p.E8581D NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8583 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 AGGAGATGCTCTCTGGTAATG 0.522000 15 30 3.27435e-08 4.3658e-08 0.002450 1 0 SLC8A3 6547 broad.mit.edu 37 14 70634240 70634240 + Missense_Mutation SNP G G C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr14:70634240G>C ENST00000381269.2 - 2 1653 c.900C>G c.(898-900)aaC>aaG p.N300K SLC8A3_ENST00000534137.1_Missense_Mutation_p.N300K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.N300K|SLC8A3_ENST00000356921.2_Missense_Mutation_p.N300K|SLC8A3_ENST00000357887.3_Missense_Mutation_p.N300K NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 300 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding 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) GGGGCACCAGGTTCCCATCTA 0.483000 24 52 0 0 0.005443 0 0 CSMD2 114784 broad.mit.edu 37 1 34006140 34006140 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:34006140G>T ENST00000373381.4 - 60 9792 c.9616C>A c.(9616-9618)Ctg>Atg p.L3206M NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3182 Sushi 26. 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) CACTGAGGCAGCTCTCCGGTC 0.587000 43 49 2.43468e-25 3.97862e-25 0.003610 1 0 LAMA4 3910 broad.mit.edu 37 6 112469529 112469529 + Missense_Mutation SNP T T G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr6:112469529T>G ENST00000230538.7 - 18 2580 c.2183A>C c.(2182-2184)cAg>cCg p.Q728P LAMA4_ENST00000522006.1_Missense_Mutation_p.Q721P|LAMA4_ENST00000389463.4_Missense_Mutation_p.Q721P|LAMA4_ENST00000424408.2_Missense_Mutation_p.Q721P NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 728 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CAGGCGCTGCTGGGCATCCCC 0.537000 6 18 0 0 0.001984 0 0 ZMYM5 9205 broad.mit.edu 37 13 20426052 20426052 + Missense_Mutation SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr13:20426052T>C ENST00000337963.4 - 3 533 c.269A>G c.(268-270)gAa>gGa p.E90G ZMYM5_ENST00000382907.4_Missense_Mutation_p.E90G|ZMYM5_ENST00000382905.4_Missense_Mutation_p.E90G NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 90 nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) TTGAGGCTTTTCATTTTTTGA 0.333000 10 19 0 0 0.006214 0 0 MRPS27 23107 broad.mit.edu 37 5 71616013 71616013 + Silent SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:71616013C>A ENST00000261413.5 - 1 75 c.36G>T c.(34-36)ctG>ctT p.L12L MRPS27_ENST00000515404.1_5'UTR|MRPS27_ENST00000513900.1_Silent_p.L12L|MRPS27_ENST00000522095.1_Silent_p.L12L|MRPS27_ENST00000457646.4_5'UTR NM_015084.2 NP_055899.2 Q92552 RT27_HUMAN mitochondrial ribosomal protein S27 12 mitochondrion|ribosome breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.46e-53) CTTGCCGCGCCAGGAGCATCC 0.592000 22 8 4.26978e-12 6.0545e-12 0.003330 1 0 SLC10A5 347051 broad.mit.edu 37 8 82607198 82607198 + Missense_Mutation SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:82607198T>C ENST00000518568.1 - 1 1211 c.10A>G c.(10-12)Aaa>Gaa p.K4E NM_001010893.2 NP_001010893.1 Q5PT55 NTCP5_HUMAN solute carrier family 10, member 5 4 integral to membrane bile acid:sodium symporter activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5) 15 ATAAAAAGTTTTCTAATCATT 0.313000 9 35 0 0 0.006214 0 0 CDH23 64072 broad.mit.edu 37 10 73468898 73468898 + Silent SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr10:73468898C>A ENST00000224721.6 + 26 3170 c.3165C>A c.(3163-3165)gcC>gcA p.A1055A NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1050 Cadherin 10. 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 ACCGCGATGCCGTTGTGAGAA 0.627000 41 25 1.30916e-28 2.16578e-28 0.003610 1 0 PCDHGA2 56113 broad.mit.edu 37 5 140719315 140719315 + Silent SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:140719315C>A ENST00000394576.2 + 1 777 c.777C>A c.(775-777)acC>acA p.T259T PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGTGGGCACCCGGATACTCA 0.537000 57 93 3.07002e-29 5.14228e-29 0.003610 1 0 ASXL3 80816 broad.mit.edu 37 18 31326453 31326453 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr18:31326453C>T ENST00000269197.5 + 12 6641 c.6641C>T c.(6640-6642)tCt>tTt p.S2214F NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 2214 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CTGAAATGCTCTTGCCGGCTG 0.517000 36 31 0 0 0.003271 0 0 PLXNB1 5364 broad.mit.edu 37 3 48461086 48461086 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr3:48461086G>A ENST00000358536.4 - 11 2878 c.2609C>T c.(2608-2610)tCa>tTa p.S870L PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.S870L|PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000448774.2_Intron NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 870 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TCCATCACCTGAGAGGAGGGT 0.687000 10 36 0 0 0.008291 0 0 OR2T33 391195 broad.mit.edu 37 1 248436905 248436905 + Missense_Mutation SNP A A T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:248436905A>T ENST00000318021.2 - 1 233 c.212T>A c.(211-213)cTg>cAg p.L71Q NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GGTGGAAACCAGCATCATGTC 0.552000 7 116 0 0 0.008291 0 0 KCTD10 83892 broad.mit.edu 37 12 109898546 109898546 + Silent SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:109898546C>A ENST00000228495.6 - 3 563 c.282G>T c.(280-282)ggG>ggT p.G94G KCTD10_ENST00000540411.1_Silent_p.G91G|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Intron NM_031954.3 NP_114160.1 Q9H3F6 BACD3_HUMAN potassium channel tetramerization domain containing 10 94 BTB. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 10 AAGGCACCGCCCCGTCTCGAA 0.612000 9 44 3.86212e-05 4.55968e-05 0.008291 1 0 PELO 53918 broad.mit.edu 37 5 52096562 52096562 + Missense_Mutation SNP C C G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:52096562C>G ENST00000274311.2 + 2 1319 c.334C>G c.(334-336)Ctg>Gtg p.L112V ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_Intron NM_015946.4 NP_057030.3 Q9BRX2 PELO_HUMAN pelota homolog (Drosophila) 112 cell cycle|cell division|translation cytoplasm|nucleus endonuclease activity|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 11 Lung NSC(810;4.94e-05)|Breast(144;0.0848) CCAGTTCACCCTGGCCAAGAA 0.597000 8 27 0 0 0.003080 0 0 EPS8L3 79574 broad.mit.edu 37 1 110300959 110300959 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:110300959G>T ENST00000369805.3 - 8 928 c.699C>A c.(697-699)ccC>ccA p.P233P RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Silent_p.P232P|EPS8L3_ENST00000361965.4_Silent_p.P232P NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 232 Pro-rich. cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) CTGGGTCCTCGGGGGAAGAGG 0.607000 42 91 1.48646e-12 2.13033e-12 0.002522 1 0 FAM171A1 221061 broad.mit.edu 37 10 15326031 15326031 + Silent SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr10:15326031G>A ENST00000378116.4 - 2 177 c.171C>T c.(169-171)ttC>ttT p.F57F NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 57 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 CCTGGTTGGTGAAGATCTCGA 0.552000 28 50 0 0 0.006320 0 0 TRIT1 54802 broad.mit.edu 37 1 40312906 40312906 + Missense_Mutation SNP T T G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:40312906T>G ENST00000316891.5 - 8 1006 c.992A>C c.(991-993)aAc>aCc p.N331T TRIT1_ENST00000441669.2_Missense_Mutation_p.N249T|TRIT1_ENST00000545233.1_Missense_Mutation_p.N85T|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_Missense_Mutation_p.N27T|TRIT1_ENST00000537223.1_Missense_Mutation_p.N27T|TRIT1_ENST00000372818.1_Intron|TRIT1_ENST00000491865.1_5'UTR NM_017646.4 NP_060116.2 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 331 Interaction with substrate tRNA (By similarity). tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1) 15 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CAAAAAACGGTTTTTAACCCA 0.358000 22 52 0 0 0.003954 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869386 36869386 + Missense_Mutation SNP A A T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr20:36869386A>T ENST00000279024.4 - 3 1418 c.1147T>A c.(1147-1149)Tgt>Agt p.C383S NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 383 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) CCAGAGGCACAGTCCAGTGCG 0.557000 82 63 0 0 0.003610 0 0 BCKDHB 594 broad.mit.edu 37 6 80878701 80878701 + Missense_Mutation SNP A A C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr6:80878701A>C ENST00000545529.1 + 5 615 c.587A>C c.(586-588)cAt>cCt p.H196P BCKDHB_ENST00000369760.4_Missense_Mutation_p.H196P|BCKDHB_ENST00000356489.5_Missense_Mutation_p.H196P|BCKDHB_ENST00000320393.6_Missense_Mutation_p.H196P P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1, beta polypeptide 196 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) GCTCTCTATCATTCTCAGAGT 0.433000 19 54 0 0 0.007413 0 0 ZNF432 9668 broad.mit.edu 37 19 52537513 52537513 + Silent SNP A A G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:52537513A>G ENST00000594154.1 - 5 1631 c.1419T>C c.(1417-1419)atT>atC p.I473I ZNF432_ENST00000221315.5_Silent_p.I473I O94892 ZN432_HUMAN zinc finger protein 432 473 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) GCTGATGTACAATCAGCCGAC 0.463000 8 28 0 0 0.003080 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104206652 104206652 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr14:104206652C>T ENST00000202556.9 - 12 2383 c.2101G>A c.(2101-2103)Gcg>Acg p.A701T PPP1R13B_ENST00000423488.2_Missense_Mutation_p.A120T|PPP1R13B_ENST00000555391.1_5'UTR NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 701 Pro-rich. apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) GGCCGGGGCGCGTTGGCCAGC 0.667000 7 133 0 0 0.001984 0 0 PHLPP2 23035 broad.mit.edu 37 16 71748668 71748668 + Missense_Mutation SNP T T G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr16:71748668T>G ENST00000393524.2 - 1 764 c.31A>C c.(31-33)Aat>Cat p.N11H PHLPP2_ENST00000568954.1_Missense_Mutation_p.N11H|PHLPP2_ENST00000567016.1_Missense_Mutation_p.N46H|PHLPP2_ENST00000360429.3_Missense_Mutation_p.N11H|PHLPP2_ENST00000356272.3_Missense_Mutation_p.N11H Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 11 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 CTTCTCCTATTCAAACAATTT 0.388000 22 21 0 0 0.003330 0 0 AMOTL1 154810 broad.mit.edu 37 11 94533394 94533394 + Silent SNP C C G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:94533394C>G ENST00000433060.2 + 3 1179 c.1038C>G c.(1036-1038)gtC>gtG p.V346V AMOTL1_ENST00000317837.9_Silent_p.V346V|AMOTL1_ENST00000317829.8_Silent_p.V296V NM_130847.2 NP_570899.1 Q8IY63 AMOL1_HUMAN angiomotin like 1 346 cytoplasm|tight junction identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 36 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) ACGAGATGGTCAAGCCCTACC 0.567000 28 190 0 0 0.007291 0 0 COL3A1 1281 broad.mit.edu 37 2 189855033 189855033 + Splice_Site SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:189855033G>T ENST00000304636.3 + 10 915 c.744_splice c.e10-1 p.G249_splice COL3A1_ENST00000317840.5_Splice_Site_p.G249_splice NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 249 Triple-helical region. G -> D (in EDS4).|G -> V (in EDS4). axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TTATTTTTAGGGTATCAAAGG 0.333000 4 6 0.00909568 0.0098292 0.009096 1 0 ZNF800 168850 broad.mit.edu 37 7 127013707 127013707 + Silent SNP T T A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr7:127013707T>A ENST00000393313.1 - 5 2274 c.1683A>T c.(1681-1683)atA>atT p.I561I ZNF800_ENST00000393312.1_Silent_p.I561I|ZNF800_ENST00000265827.3_Silent_p.I561I Q2TB10 ZN800_HUMAN zinc finger protein 800 561 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 TAGGCTTTTTTATAGCTCTGA 0.373000 30 33 0 0 0.006320 0 0 SLC25A33 84275 broad.mit.edu 37 1 9640262 9640262 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:9640262G>A ENST00000302692.6 + 6 943 c.733G>A c.(733-735)Ggc>Agc p.G245S NM_032315.2 NP_115691.1 Q9BSK2 S2533_HUMAN solute carrier family 25 (pyrimidine nucleotide carrier), member 33 245 transport integral to membrane|mitochondrial inner membrane endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1) 9 all_lung(157;0.246) all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419) TCTTTCTAAGGGCTGTGCCTC 0.428000 32 11 0 0 0.004289 0 0 KPRP 448834 broad.mit.edu 37 1 152733006 152733006 + Silent SNP T T A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:152733006T>A ENST00000368773.1 + 2 1000 c.942T>A c.(940-942)atT>atA p.I314I KPRP_ENST00000606109.1_Silent_p.I314I NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 314 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCCGCCCCATTTCAAGCTGCT 0.587000 70 45 0 0 0.003610 0 0 TBL1X 6907 broad.mit.edu 37 X 9683028 9683028 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:9683028C>A ENST00000217964.7 + 17 2332 c.1692C>A c.(1690-1692)agC>agA p.S564R TBL1X_ENST00000380961.1_Missense_Mutation_p.S513R|TBL1X_ENST00000424279.1_Missense_Mutation_p.S513R|TBL1X_ENST00000407597.2_Missense_Mutation_p.S564R|TBL1X_ENST00000536365.1_Missense_Mutation_p.S513R NM_005647.3 NP_005638.1 O60907 TBL1X_HUMAN transducin (beta)-like 1X-linked 564 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2) 20 Hepatocellular(5;0.000888) TGGGTGCCAGCGCGTCCGACG 0.597000 6 19 8.12818e-05 9.38945e-05 0.001984 1 0 LRRC7 57554 broad.mit.edu 37 1 70397207 70397207 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:70397207C>A ENST00000310961.5 + 9 984 c.566C>A c.(565-567)gCc>gAc p.A189D LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.A184D Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 184 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CACAAACTGGCCCAGTTGGAA 0.403000 13 16 6.72482e-11 9.3381e-11 0.003163 1 0 MTHFD2 10797 broad.mit.edu 37 2 74441254 74441254 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:74441254G>A ENST00000394053.2 + 8 1018 c.938G>A c.(937-939)gGc>gAc p.G313D MTHFD2_ENST00000409804.1_Missense_Mutation_p.G185D|MTHFD2_ENST00000394050.3_Missense_Mutation_p.G149D|RP11-287D1.3_ENST00000451608.2_Intron|MTHFD2_ENST00000264090.4_Missense_Mutation_p.G211D|MTHFD2_ENST00000409601.1_Missense_Mutation_p.G230D NM_006636.3 NP_006627.2 P13995 MTDC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase 313 folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 NADH(DB00157)|Tetrahydrofolic acid(DB00116) GGAGGTGTTGGCCCCATGACA 0.463000 28 106 0 0 0.005443 0 0 OR5M10 390167 broad.mit.edu 37 11 56345063 56345063 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:56345063C>A ENST00000526812.2 - 1 200 c.135G>T c.(133-135)atG>atT p.M45I NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 45 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 TCAGCAGGATCATGCACAGGT 0.473000 44 17 1.03325e-14 1.53839e-14 0.002852 1 0 GABRG1 2565 broad.mit.edu 37 4 46043081 46043081 + Missense_Mutation SNP G G C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr4:46043081G>C ENST00000295452.4 - 9 1489 c.1322C>G c.(1321-1323)tCt>tGt p.S441C NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 441 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TCTAGAATAAGAGTCAATTTT 0.393000 54 27 0 0 0.003610 0 0 USH2A 7399 broad.mit.edu 37 1 215822056 215822056 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:215822056G>T ENST00000366943.2 - 66 14782 c.14396C>A c.(14395-14397)aCt>aAt p.T4799N USH2A_ENST00000307340.3_Missense_Mutation_p.T4799N O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4799 Fibronectin type-III 33. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGAGTAGTTAGTGAAGGCTTG 0.527000 HNSCC(13;0.011) 12 40 0.00136819 0.00154066 0.001368 1 0 DOCK9 23348 broad.mit.edu 37 13 99489762 99489762 + Missense_Mutation SNP T T G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr13:99489762T>G ENST00000376460.1 - 39 4311 c.4231A>C c.(4231-4233)Aca>Cca p.T1411P DOCK9_ENST00000339416.2_Missense_Mutation_p.T1412P|DOCK9_ENST00000448493.2_3'UTR NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1412 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AACGCCAATGTAAATAGAGAA 0.433000 8 13 0 0 0.004482 0 0 VSNL1 7447 broad.mit.edu 37 2 17836533 17836533 + Missense_Mutation SNP C C G rs146113368 TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:17836533C>G ENST00000406397.1 + 4 973 c.448C>G c.(448-450)Cga>Gga p.R150G VSNL1_ENST00000404666.2_Missense_Mutation_p.R150G|VSNL1_ENST00000295156.4_Missense_Mutation_p.R150G P62760 VISL1_HUMAN visinin-like 1 150 EF-hand 4. calcium ion binding NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GCCTGAGCAGCGAGTAGACAA 0.413000 14 32 0 0 0.001855 0 0 ALMS1 7840 broad.mit.edu 37 2 73681086 73681086 + Missense_Mutation SNP T T G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:73681086T>G ENST00000264448.6 + 8 7540 c.7429T>G c.(7429-7431)Tca>Gca p.S2477A ALMS1_ENST00000377715.1_Missense_Mutation_p.S2477A|ALMS1_ENST00000409009.1_Missense_Mutation_p.S2435A NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2477 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 CAGTGTAGATTCACTGGCTGC 0.448000 6 24 0 0 0.001168 0 0 TAAR6 319100 broad.mit.edu 37 6 132892340 132892340 + Nonsense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr6:132892340G>T ENST00000275198.1 + 1 880 c.880G>T c.(880-882)Gag>Tag p.E294* NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 294 plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) CTGTATTTATGAGATTTGCTG 0.353000 63 19 3.41413e-29 5.68315e-29 0.003610 1 0 LRRC7 57554 broad.mit.edu 37 1 70504740 70504740 + Missense_Mutation SNP T T A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:70504740T>A ENST00000310961.5 + 22 3552 c.3134T>A c.(3133-3135)gTg>gAg p.V1045E LRRC7_ENST00000415775.2_Missense_Mutation_p.V324E|LRRC7_ENST00000035383.5_Missense_Mutation_p.V1040E Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1040 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CAAGGATCAGTGGAAGTGAAA 0.443000 30 31 0 0 0.002096 0 0 TRPC1 7220 broad.mit.edu 37 3 142467281 142467281 + Missense_Mutation SNP A A G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr3:142467281A>G ENST00000273482.6 + 3 900 c.509A>G c.(508-510)aAg>aGg p.K170R TRPC1_ENST00000476941.1_Missense_Mutation_p.K204R NM_003304.4 NP_003295.1 P48995 TRPC1_HUMAN transient receptor potential cation channel, subfamily C, member 1 204 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 AAAAACAAAAAGGATAGCCTC 0.338000 35 39 0 0 0.003271 0 0 NMS 129521 broad.mit.edu 37 2 101089998 101089998 + Silent SNP T T G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:101089998T>G ENST00000376865.1 + 3 187 c.180T>G c.(178-180)ccT>ccG p.P60P NM_001011717.1 NP_001011717.1 Q5H8A3 NMS_HUMAN neuromedin S 60 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1) 14 CTCGCCAACCTAAGGTAAAAA 0.348000 4 12 0 0 0.000602 0 0 AKAP17A 8227 broad.mit.edu 37 X 1712374 1712374 + Missense_Mutation SNP G G C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:1712374G>C ENST00000313871.3 + 2 215 c.19G>C c.(19-21)Gtg>Ctg p.V7L AKAP17A_ENST00000381261.3_Missense_Mutation_p.V7L NM_005088.2 NP_005079.2 Q02040 AK17A_HUMAN A kinase (PRKA) anchor protein 17A 7 B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3) 26 GGCTACCATCGTGCACGACAC 0.622000 60 131 0 0 0.003610 0 0 ITFG2 55846 broad.mit.edu 37 12 2930756 2930756 + Missense_Mutation SNP C C G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:2930756C>G ENST00000228799.2 + 8 980 c.841C>G c.(841-843)Ctg>Gtg p.L281V ITFG2_ENST00000542548.1_Missense_Mutation_p.L169V|ITFG2_ENST00000419778.2_Missense_Mutation_p.L104V NM_018463.3 NP_060933.3 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 281 central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(31;0.000818) CCTGTGCACCCTGGATGGTGA 0.612000 33 65 0 0 0.003755 0 0 PNPLA8 50640 broad.mit.edu 37 7 108155242 108155242 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr7:108155242C>A ENST00000426128.2 - 2 819 c.694G>T c.(694-696)Gac>Tac p.D232Y PNPLA8_ENST00000436062.1_Missense_Mutation_p.D232Y|PNPLA8_ENST00000453144.1_Missense_Mutation_p.D132Y|PNPLA8_ENST00000422087.1_Missense_Mutation_p.D232Y|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000257694.8_Missense_Mutation_p.D232Y|PNPLA8_ENST00000388728.5_Missense_Mutation_p.D232Y NM_001256009.1 NP_001242938.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 232 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 TCTGATTTGTCCCGGAAATGT 0.343000 22 19 1.64113e-05 1.98119e-05 0.010504 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43846406 43846406 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:43846406C>A ENST00000389420.3 - 13 1852 c.1853G>T c.(1852-1854)cGa>cTa p.R618L ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R618L NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 618 Cys-rich. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTGCTTCTCTCGAAAGTCTTG 0.423000 15 22 1.49906e-05 1.81786e-05 0.002450 1 0 PLGLA 285189 broad.mit.edu 37 2 107007448 107007448 + RNA SNP T T A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:107007448T>A ENST00000484422.1 + 0 297 CTGTCAAAAATGGAGTTCCAC 0.443000 10 6 0 0 0.000978 0 0 NPAP1 23742 broad.mit.edu 37 15 24921213 24921213 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr15:24921213G>T ENST00000329468.2 + 1 673 c.199G>T c.(199-201)Gcc>Tcc p.A67S NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CATCTTCGTCGCCCCTAAGAG 0.716000 16 36 5.01169e-05 5.86521e-05 0.004990 1 0 BEST3 144453 broad.mit.edu 37 12 70087509 70087509 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:70087509C>T ENST00000330891.5 - 4 652 c.426G>A c.(424-426)tcG>tcA p.S142S BEST3_ENST00000331471.4_Silent_p.S142S|BEST3_ENST00000393365.1_Silent_p.S36S|BEST3_ENST00000266661.4_Silent_p.S36S|BEST3_ENST00000476098.1_5'UTR|BEST3_ENST00000553096.1_Silent_p.S36S|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000551160.1_Silent_p.S36S NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 142 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) CAGTGCTCACCGAGCGAAAGA 0.527000 5 48 0 0 0.001984 0 0 TMTC4 84899 broad.mit.edu 37 13 101277801 101277801 + Missense_Mutation SNP G G C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr13:101277801G>C ENST00000342624.5 - 15 2082 c.1824C>G c.(1822-1824)aaC>aaG p.N608K TMTC4_ENST00000328767.5_Missense_Mutation_p.N478K|TMTC4_ENST00000376234.3_Missense_Mutation_p.N589K|TMTC4_ENST00000462211.1_5'UTR NM_032813.2 NP_116202.2 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat containing 4 589 integral to membrane binding breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GACGCCCGAGGTTGTAGTAAC 0.458000 22 26 0 0 0.003954 0 0 TRPS1 7227 broad.mit.edu 37 8 116631998 116631998 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:116631998G>T ENST00000395715.3 - 3 904 c.327C>A c.(325-327)aaC>aaA p.N109K TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Missense_Mutation_p.N96K|TRPS1_ENST00000520276.1_Missense_Mutation_p.N100K|TRPS1_ENST00000220888.5_Missense_Mutation_p.N96K NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 96 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AGGAGGGAAAGTTTCCTCCCT 0.478000 Langer-Giedion syndrome 17 122 5.3912e-06 6.7516e-06 0.006122 1 0 TEAD4 7004 broad.mit.edu 37 12 3129844 3129844 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:3129844C>T ENST00000359864.2 + 9 818 c.628C>T c.(628-630)Ccg>Tcg p.P210S TEAD4_ENST00000397122.2_Missense_Mutation_p.P81S|TEAD4_ENST00000358409.2_Missense_Mutation_p.P167S NM_003213.3 NP_003204.2 Q15561 TEAD4_HUMAN TEA domain family member 4 210 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) CTCTGCGCCCCCGGCACCCCC 0.672000 39 24 0 0 0.006230 0 0 OR2AK2 391191 broad.mit.edu 37 1 248128815 248128815 + Missense_Mutation SNP T T G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:248128815T>G ENST00000366480.3 + 1 281 c.182T>G c.(181-183)aTc>aGc p.I61S OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ATCATGCTGATCCACCTCATT 0.468000 78 127 0 0 0.003610 0 0 GDF10 2662 broad.mit.edu 37 10 48438671 48438671 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr10:48438671G>T ENST00000224605.2 - 1 305 c.40C>A c.(40-42)Ccc>Acc p.P14T NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 14 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 agcagcTGGGGCCCGGGTCCC 0.731000 9 9 1.58986e-06 2.01935e-06 0.008291 1 0 PLCB2 5330 broad.mit.edu 37 15 40586571 40586571 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr15:40586571C>A ENST00000260402.3 - 19 2206 c.1957G>T c.(1957-1959)Ggc>Tgc p.G653C PLCB2_ENST00000456256.2_Missense_Mutation_p.G653C|PLCB2_ENST00000557821.1_Missense_Mutation_p.G649C NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 653 PI-PLC Y-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) AGGAGGTAGCCGCTCTGCCCG 0.597000 7 33 0.00198382 0.00218791 0.001984 1 0 CNBD1 168975 broad.mit.edu 37 8 87878811 87878811 + Splice_Site SNP A A T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:87878811A>T ENST00000518476.1 + 1 139 c.88_splice c.e1+1 p.N30_splice NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 30 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 CAGTATACCAAGTGAGTGGGA 0.438000 8 18 0 0 0.006214 0 0 ITGA8 8516 broad.mit.edu 37 10 15655727 15655727 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr10:15655727C>T ENST00000378076.3 - 15 1838 c.1485G>A c.(1483-1485)ctG>ctA p.L495L NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 495 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TCATTGGGTGCAGCAGAAGCT 0.463000 58 67 0 0 0.003610 0 0 MBD5 55777 broad.mit.edu 37 2 149227121 149227121 + Missense_Mutation SNP A A T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:149227121A>T ENST00000407073.1 + 9 2606 c.1609A>T c.(1609-1611)Agc>Tgc p.S537C MBD5_ENST00000404807.1_Missense_Mutation_p.S537C NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 537 chromosome|nucleus chromatin binding|DNA 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) AAATACCCCAAGCAGTGCAGC 0.438000 24 40 0 0 0.002299 0 0 STK11 6794 broad.mit.edu 37 19 1220370 1220370 + Splice_Site SNP A A T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:1220370A>T ENST00000326873.7 + 4 1637 c.e4-1 NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(3) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) TGCTGCCCGCAGGTACTTCTG 0.652000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 15 1 0 0 0.004007 0 0 LRRC8D 55144 broad.mit.edu 37 1 90398902 90398902 + Missense_Mutation SNP G G C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:90398902G>C ENST00000337338.5 + 3 682 c.275G>C c.(274-276)gGg>gCg p.G92A LRRC8D_ENST00000394593.3_Missense_Mutation_p.G92A NM_001134479.1 NP_001127951.1 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member D 92 integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1) 29 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) GACCAAGATGGGCGGACAACA 0.498000 4 39 0 0 0.009096 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298852 125298852 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:125298852G>T ENST00000538699.1 - 2 1136 c.1056C>A c.(1054-1056)ggC>ggA p.G352G DCAF12L2_ENST00000360028.2_Silent_p.G352G NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 352 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 GCGACCGCACGCCTGTGCCAC 0.632000 14 75 3.27435e-08 4.3658e-08 0.002450 1 0 TCP10 6953 broad.mit.edu 37 6 167789539 167789539 + Silent SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr6:167789539C>A ENST00000366827.2 - 6 814 c.603G>T c.(601-603)ccG>ccT p.P201P TCP10_ENST00000397829.4_Silent_p.P201P Q12799 TCP10_HUMAN t-complex 10 228 cytosol NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) CGGAGTTTTGCGGACTTCGGG 0.612000 8 11 3.09899e-07 4.01221e-07 0.004482 1 0 ASXL3 80816 broad.mit.edu 37 18 31326451 31326451 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr18:31326451C>T ENST00000269197.5 + 12 6639 c.6639C>T c.(6637-6639)tgC>tgT p.C2213C NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 2213 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AACTGAAATGCTCTTGCCGGC 0.522000 34 28 0 0 0.002445 0 0 PCNT 5116 broad.mit.edu 37 21 47808656 47808656 + Splice_Site SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr21:47808656G>T ENST00000359568.5 + 18 3571 c.e18-1 PCNT_ENST00000480896.1_Splice_Site NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TCCTGTCTCAGAGGGGCCCTC 0.667000 25 39 5.45727e-16 8.26298e-16 0.008361 1 0 SPRR2G 6706 broad.mit.edu 37 1 153122499 153122499 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:153122499G>T ENST00000368748.4 - 2 126 c.88C>A c.(88-90)Ccg>Acg p.P30T NM_001014291.3 NP_001014313.1 Q9BYE4 SPR2G_HUMAN small proline-rich protein 2G 30 3 X 9 AA approximate tandem repeats. keratinization cornified envelope|cytoplasm endometrium(1)|lung(1)|skin(1) 3 all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGGCACTTCGGGGGTGGACAT 0.607000 77 86 5.04879e-28 8.30107e-28 0.003610 1 0 HHIPL1 84439 broad.mit.edu 37 14 100129272 100129272 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr14:100129272G>A ENST00000330710.5 + 6 1660 c.1562G>A c.(1561-1563)tGc>tAc p.C521Y HHIPL1_ENST00000357223.2_Missense_Mutation_p.C521Y NM_001127258.1 NP_001120730.1 Q96JK4 HIPL1_HUMAN HHIP-like 1 521 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) AGTGAGATCTGCATGGGCCAC 0.592000 6 56 0 0 0.001168 0 0 SCN10A 6336 broad.mit.edu 37 3 38739794 38739794 + Silent SNP G G A rs142804903 TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr3:38739794G>A ENST00000449082.2 - 27 4916 c.4917C>T c.(4915-4917)gaC>gaT p.D1639D NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1639 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) TGAACATGTCGTCGATGCCAG 0.547000 31 98 0 0 0.003271 0 0 CSMD1 64478 broad.mit.edu 37 8 2796146 2796146 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:2796146C>A ENST00000520002.1 - 71 11214 c.10659G>T c.(10657-10659)agG>agT p.R3553S CSMD1_ENST00000602723.1_Missense_Mutation_p.R3376S|CSMD1_ENST00000602557.1_Missense_Mutation_p.R3553S|CSMD1_ENST00000542608.1_Missense_Mutation_p.R3375S|CSMD1_ENST00000537824.1_Missense_Mutation_p.R3552S|CSMD1_ENST00000400186.3_Missense_Mutation_p.R3376S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3553 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) TTGTGTCAAACCTCACAGCCT 0.463000 9 5 5.68852e-11 7.94023e-11 0.004482 1 0 NAT10 55226 broad.mit.edu 37 11 34139802 34139802 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:34139802C>T ENST00000257829.3 + 7 839 c.633C>T c.(631-633)tcC>tcT p.S211S NAT10_ENST00000531159.2_Silent_p.S139S|NAT10_ENST00000527971.1_Silent_p.S211S NM_024662.2 NP_078938.2 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 211 nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) CCATCTCCTCCCACGTTGCCA 0.542000 32 34 0 0 0.006230 0 0 LPIN2 9663 broad.mit.edu 37 18 2922113 2922113 + Silent SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr18:2922113G>A ENST00000261596.4 - 17 2497 c.2259C>T c.(2257-2259)gaC>gaT p.D753D NM_014646.2 NP_055461.1 Q92539 LPIN2_HUMAN lipin 2 753 C-LIP. fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 29 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) TTGTGCCCTTGTCATTGACCC 0.607000 7 51 0 0 0.001984 0 0 BRWD3 254065 broad.mit.edu 37 X 79947425 79947425 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:79947425C>A ENST00000373275.4 - 30 3594 c.3378G>T c.(3376-3378)ttG>ttT p.L1126F BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1126 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 GCAAAGCAGTCAATTCTTCCT 0.423000 8 18 1.06961e-07 1.39832e-07 0.003080 1 0 IFNE 338376 broad.mit.edu 37 9 21481120 21481120 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr9:21481120G>A ENST00000448696.3 - 1 1192 c.574C>T c.(574-576)Ccc>Tcc p.P192S MIR31HG_ENST00000304425.3_RNA NM_176891.4 NP_795372.1 Q86WN2 IFNE_HUMAN interferon, epsilon 192 defense response|response to virus extracellular space cytokine activity|cytokine receptor binding large_intestine(2)|lung(1)|skin(1) 4 TCGTTCAAGGGTCTTCCTTGT 0.478000 34 48 0 0 0.003755 0 0 KIAA0586 9786 broad.mit.edu 37 14 58965518 58965518 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr14:58965518G>T ENST00000423743.3 + 28 4134 c.3876G>T c.(3874-3876)gtG>gtT p.V1292V KIAA0586_ENST00000354386.6_Silent_p.V1389V|KIAA0586_ENST00000261244.5_Silent_p.V1260V|KIAA0586_ENST00000556134.1_Silent_p.V1321V|KIAA0586_ENST00000538571.2_3'UTR NM_001244191.1|NM_001244192.1 NP_001231120.1|NP_001231121.1 E9PGW8 E9PGW8_HUMAN KIAA0586 1260 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AAAACAGTGTGGGTGAACTTA 0.378000 9 18 3.86212e-05 4.55968e-05 0.008291 1 0 DOCK8 81704 broad.mit.edu 37 9 328110 328110 + Missense_Mutation SNP A A G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr9:328110A>G ENST00000432829.2 + 9 1095 c.779A>G c.(778-780)cAg>cGg p.Q260R DOCK8_ENST00000469391.1_Missense_Mutation_p.Q260R|DOCK8_ENST00000453981.1_Missense_Mutation_p.Q328R NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 328 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GCATCAAGTCAGGCGAGATCT 0.468000 9 18 0 0 0.004482 0 0 PSG7 5676 broad.mit.edu 37 19 43439788 43439788 + RNA SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:43439788G>T ENST00000446844.3 - 0 287 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) CTTTGTACCAGATGTGGCCAG 0.438000 115 84 1.76152e-51 3.0262e-51 0.003610 1 0 CYLD 1540 broad.mit.edu 37 16 50830353 50830353 + Silent SNP A A G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr16:50830353A>G ENST00000540145.1 + 19 3220 c.2805A>G c.(2803-2805)gcA>gcG p.A935A RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000398568.2_Silent_p.A932A|CYLD_ENST00000311559.9_Silent_p.A935A|CYLD_ENST00000564326.1_Silent_p.A932A|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000568704.2_Silent_p.A750A|CYLD_ENST00000569418.1_Silent_p.A932A|CYLD_ENST00000427738.3_Silent_p.A935A Q9NQC7 CYLD_HUMAN cylindromatosis (turban tumor syndrome) 935 cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) AAGGCTGTGCACGAAGACTGC 0.468000 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 20 32 0 0 0.007413 0 0 POTEG 404785 broad.mit.edu 37 14 19553788 19553788 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr14:19553788C>T ENST00000409832.3 + 1 424 c.372C>T c.(370-372)gaC>gaT p.D124D NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 124 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 GAGACTACGACGACAGCGCTT 0.592000 67 607 0 0 0.003610 0 0 RLF 6018 broad.mit.edu 37 1 40701680 40701680 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:40701680C>T ENST00000372771.4 + 8 1333 c.1306C>T c.(1306-1308)Cca>Tca p.P436S NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 436 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) ATATTTGCAACCAGATCAAAA 0.373000 89 82 0 0 0.003610 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907724 164907724 + Missense_Mutation SNP A A T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr3:164907724A>T ENST00000475390.1 - 2 1338 c.895T>A c.(895-897)Tca>Aca p.S299T SLITRK3_ENST00000241274.3_Missense_Mutation_p.S299T O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 299 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TTACTTGATGACGAATGTGGA 0.438000 HNSCC(40;0.11) 20 62 0 0 0.008871 0 0 DSG3 1830 broad.mit.edu 37 18 29046694 29046694 + Missense_Mutation SNP T T G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr18:29046694T>G ENST00000257189.4 + 11 1696 c.1613T>G c.(1612-1614)gTa>gGa p.V538G NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 538 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) TTGCCTGCCGTATGGAGTATC 0.408000 12 50 0 0 0.001368 0 0 SSPO 23145 broad.mit.edu 37 7 149512270 149512270 + RNA SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr7:149512270G>T ENST00000378016.2 + 0 10590 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TAGACTGCGGGGGTGGCCAGA 0.667000 20 28 1.85244e-09 2.54592e-09 0.003330 1 0 RAI2 10742 broad.mit.edu 37 X 17819428 17819428 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:17819428G>T ENST00000545871.1 - 3 1163 c.703C>A c.(703-705)Cct>Act p.P235T RAI2_ENST00000331511.1_Missense_Mutation_p.P235T|RAI2_ENST00000415486.3_Missense_Mutation_p.P185T|RAI2_ENST00000451717.1_Missense_Mutation_p.P235T|RAI2_ENST00000360011.1_Missense_Mutation_p.P235T NM_001172739.1|NM_001172743.1 NP_001166210.1|NP_001166214.1 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 235 Pro-rich. embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) ACGATTACAGGATACGGCACC 0.607000 15 51 7.93312e-07 1.01242e-06 0.002450 1 0 PRSS3P2 154754 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 3 26 0 0 0.009096 0 0 NT5DC1 221294 broad.mit.edu 37 6 116429571 116429571 + Missense_Mutation SNP A A C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr6:116429571A>C ENST00000319550.4 + 3 312 c.230A>C c.(229-231)aAa>aCa p.K77T NM_152729.2 NP_689942.2 Q5TFE4 NT5D1_HUMAN 5'-nucleotidase domain containing 1 77 hydrolase activity|metal ion binding large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1) 8 all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469) all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112) AACTTCCTTAAACTTGCAAAT 0.343000 27 6 0 0 0.008361 0 0 MUC16 94025 broad.mit.edu 37 19 9082974 9082974 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:9082974G>T ENST00000397910.4 - 1 9044 c.8841C>A c.(8839-8841)gcC>gcA p.A2947A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2948 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 TTGCACTTATGGCCTTTGTGG 0.493000 18 65 1.99824e-07 2.59965e-07 0.004990 1 0 PAK3 5063 broad.mit.edu 37 X 110439078 110439078 + Missense_Mutation SNP A A T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:110439078A>T ENST00000519681.1 + 16 1624 c.1182A>T c.(1180-1182)caA>caT p.Q394H PAK3_ENST00000417227.1_Missense_Mutation_p.Q394H|PAK3_ENST00000518291.1_Missense_Mutation_p.Q409H|PAK3_ENST00000372007.4_Missense_Mutation_p.Q373H|PAK3_ENST00000425146.1_Missense_Mutation_p.Q373H|PAK3_ENST00000360648.4_Missense_Mutation_p.Q409H|PAK3_ENST00000372010.1_Missense_Mutation_p.Q388H|PAK3_ENST00000446737.1_Missense_Mutation_p.Q373H|PAK3_ENST00000262836.4_Missense_Mutation_p.Q388H O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 388 Protein kinase. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 AGTGCCTGCAAGCTTTGGATT 0.318000 TSP Lung(19;0.15) 19 87 0 0 0.001882 0 0 COL2A1 1280 broad.mit.edu 37 12 48369227 48369227 + Silent SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:48369227G>A ENST00000380518.3 - 51 3923 c.3759C>T c.(3757-3759)gcC>gcT p.A1253A COL2A1_ENST00000337299.6_Silent_p.A1184A|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 1253 Fibrillar collagen NC1. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CATCCACCTCGGCGTCATGCT 0.647000 17 74 0 0 0.010504 0 0 PAX7 5081 broad.mit.edu 37 1 19062154 19062154 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:19062154C>T ENST00000420770.2 + 8 1267 c.1184C>T c.(1183-1185)gCg>gTg p.A395V PAX7_ENST00000375375.3_Missense_Mutation_p.A395V|PAX7_ENST00000400661.3_Missense_Mutation_p.A393V NM_001135254.1 NP_001128726.1 P23759 PAX7_HUMAN paired box 7 395 anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2) 31 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) AACCCCAGTGCGGTGCCCCCG 0.652000 T FOXO1A alveolar rhabdomyosarcoma 18 43 0 0 0.004990 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64625273 64625273 + Missense_Mutation SNP C C G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:64625273C>G ENST00000536360.1 - 9 1968 c.1155G>C c.(1153-1155)agG>agC p.R385S Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 6 385 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) TGCTGCAGCTCCTTTCAGGCT 0.413000 25 9 0 0 0.008361 0 0 USP35 57558 broad.mit.edu 37 11 77911202 77911202 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:77911202C>T ENST00000529308.1 + 5 1221 c.960C>T c.(958-960)ccC>ccT p.P320P USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.P51P|USP35_ENST00000530267.1_Intron|USP35_ENST00000441408.2_5'UTR NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 320 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) TGCTGTACCCCATCGTCCGGG 0.582000 15 118 0 0 0.004007 0 0 HSPG2 3339 broad.mit.edu 37 1 22211527 22211527 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:22211527C>A ENST00000374695.3 - 11 1413 c.1334G>T c.(1333-1335)gGc>gTc p.G445V NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 445 Ig-like C2-type 1. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GGGGATGTGGCCCCAGTTGAG 0.652000 13 17 0.00010058 0.000115194 0.001368 1 0 PSG5 5673 broad.mit.edu 37 19 43683299 43683299 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:43683299G>T ENST00000599812.1 - 3 536 c.441C>A c.(439-441)ccC>ccA p.P147P PSG5_ENST00000342951.6_Intron|PSG5_ENST00000366175.3_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Intron|PSG5_ENST00000404580.1_Intron Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 147 Ig-like C2-type 1. 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) TGGAGGGCTTGGGAGTTTCCA 0.507000 66 85 5.44642e-36 9.23823e-36 0.003610 1 0 WWP1 11059 broad.mit.edu 37 8 87386340 87386340 + Missense_Mutation SNP C C G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:87386340C>G ENST00000517970.1 + 3 368 c.61C>G c.(61-63)Cag>Gag p.Q21E WWP1_ENST00000349423.2_Missense_Mutation_p.Q21E|WWP1_ENST00000265428.4_Missense_Mutation_p.Q21E|WWP1_ENST00000341922.2_Missense_Mutation_p.Q21E|WWP1_ENST00000523863.1_3'UTR NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 21 C2. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 GTTGCAGTTACAGGTAACTGG 0.343000 28 97 0 0 0.009535 0 0 NEB 4703 broad.mit.edu 37 2 152582033 152582033 + Silent SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:152582033T>C ENST00000427231.2 - 6 538 c.336A>G c.(334-336)ccA>ccG p.P112P NEB_ENST00000397345.3_Silent_p.P112P|NEB_ENST00000603639.1_Silent_p.P112P|NEB_ENST00000604864.1_Silent_p.P112P|NEB_ENST00000409198.1_Silent_p.P112P|NEB_ENST00000172853.10_Silent_p.P112P NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 112 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGCTGGCGTATGGCTGTCCTT 0.393000 46 86 0 0 0.003610 0 0 SYTL4 94121 broad.mit.edu 37 X 99956241 99956241 + Missense_Mutation SNP C C G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:99956241C>G ENST00000372981.1 - 4 597 c.411G>C c.(409-411)agG>agC p.R137S SYTL4_ENST00000455616.1_Missense_Mutation_p.R137S|SYTL4_ENST00000276141.6_Missense_Mutation_p.R137S|SYTL4_ENST00000454200.2_Missense_Mutation_p.R137S|SYTL4_ENST00000263033.5_Missense_Mutation_p.R137S|SYTL4_ENST00000372989.1_Missense_Mutation_p.R137S Q96C24 SYTL4_HUMAN synaptotagmin-like 4 137 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCAGGGACATCCTGATTATCT 0.453000 7 28 0 0 0.003080 0 0 COL10A1 1300 broad.mit.edu 37 6 116442887 116442887 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr6:116442887G>T ENST00000327673.4 - 2 799 c.392C>A c.(391-393)cCa>cAa p.P131Q NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.P131Q|AL121963.1_ENST00000430695.1_Missense_Mutation_p.G90C Q03692 COAA1_HUMAN collagen, type X, alpha 1 131 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) TAGGCCAGCTGGTCCAACATC 0.597000 20 5 0.000175454 0.000200092 0.010504 1 0 SAMD14 201191 broad.mit.edu 37 17 48195572 48195572 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr17:48195572C>T ENST00000330175.4 - 3 480 c.163G>A c.(163-165)Gcc>Acc p.A55T SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Missense_Mutation_p.A55T NM_001257359.1 NP_001244288.1 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 55 breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 15 GCGGAGCTGGCACTGTCCCGA 0.637000 34 47 0 0 0.005524 0 0 FRMD6 122786 broad.mit.edu 37 14 52169297 52169297 + Missense_Mutation SNP G G C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr14:52169297G>C ENST00000395718.2 + 5 623 c.338G>C c.(337-339)aGa>aCa p.R113T FRMD6_ENST00000344768.5_Missense_Mutation_p.R121T|FRMD6_ENST00000554167.1_Missense_Mutation_p.R44T|FRMD6_ENST00000356218.4_Missense_Mutation_p.R113T NM_001267046.1|NM_152330.3 NP_001253975.1|NP_689543.1 Q96NE9 FRMD6_HUMAN FERM domain containing 6 121 FERM. cytoskeleton|mitochondrion|plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_epithelial(31;0.0163)|Breast(41;0.089) GAAAATGGCAGATTGATCAGG 0.403000 48 179 0 0 0.003610 0 0 ZNF676 163223 broad.mit.edu 37 19 22379435 22379435 + Translation_Start_Site SNP T T A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:22379435T>A ENST00000397121.2 - 1 318 c.1A>T c.(1-3)Atg>Ttg p.M1L NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 1 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTCTCTAACATCACATTCCTA 0.403000 60 21 0 0 0.003610 0 0 FAM47B 170062 broad.mit.edu 37 X 34961678 34961678 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:34961678G>T ENST00000329357.5 + 1 766 c.730G>T c.(730-732)Gca>Tca p.A244S NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 244 Pro-rich. p.A244T(1) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 AGAGACTCGCGCATCTCATCT 0.642000 22 79 7.88262e-20 1.24267e-19 0.003330 1 0 PIGT 51604 broad.mit.edu 37 20 44050087 44050087 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr20:44050087G>T ENST00000279036.6 + 9 1178 c.1098G>T c.(1096-1098)ggG>ggT p.G366G PIGT_ENST00000535404.1_Silent_p.G211G|PIGT_ENST00000543458.2_Silent_p.G310G|PIGT_ENST00000341555.5_Silent_p.G172G|PIGT_ENST00000545755.1_Silent_p.G104G|PIGT_ENST00000372689.5_Intron|PIGT_ENST00000279035.9_Silent_p.G264G NM_015937.5 NP_057021.2 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, class T 366 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1) 22 Myeloproliferative disorder(115;0.0122) TGCAGAAGGGGGAGCTGAGCA 0.592000 26 35 4.22769e-11 5.96327e-11 0.006320 1 0 TRPM6 140803 broad.mit.edu 37 9 77411743 77411743 + Missense_Mutation SNP A A G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr9:77411743A>G ENST00000451710.3 - 18 2542 c.2305T>C c.(2305-2307)Tca>Cca p.S769P TRPM6_ENST00000360774.1_Missense_Mutation_p.S769P|TRPM6_ENST00000449912.2_Missense_Mutation_p.S764P|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.S764P|TRPM6_ENST00000376864.4_Missense_Mutation_p.S769P|TRPM6_ENST00000376871.3_Intron Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 769 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GGAACATGTGACATCTCAGCT 0.378000 14 51 0 0 0.001855 0 0 ZNF480 147657 broad.mit.edu 37 19 52826033 52826033 + Silent SNP T T G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:52826033T>G ENST00000595962.1 + 5 1596 c.1530T>G c.(1528-1530)ccT>ccG p.P510P ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Silent_p.P467P|ZNF480_ENST00000335090.6_Silent_p.P433P|CTD-2525I3.6_ENST00000594379.1_RNA NM_144684.2 NP_653285.2 Q8WV37 ZN480_HUMAN zinc finger protein 480 510 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) GAGAGAAACCTTACAAATGTA 0.393000 6 18 0 0 0.001984 0 0 ACACA 31 broad.mit.edu 37 17 35640264 35640264 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr17:35640264G>T ENST00000353139.5 - 5 995 c.514C>A c.(514-516)Cgg>Agg p.R172R ACACA_ENST00000335166.5_Silent_p.R57R|ACACA_ENST00000394406.2_Silent_p.R135R|ACACA_ENST00000360679.3_Silent_p.R77R NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 135 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 acetyl-CoA carboxylase activity|ATP binding|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) CGGATAGACCGCATGCATTTC 0.448000 13 44 6.31663e-08 8.33919e-08 0.003163 1 0 LOC101927060 101927060 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 4 51 0.00909568 0.0098292 0.009096 1 0 VHLL 391104 broad.mit.edu 37 1 156268904 156268904 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:156268904C>T ENST00000339922.3 - 1 524 c.77G>A c.(76-78)tGc>tAc p.C26Y NM_001004319.2 NP_001004319.1 Q6RSH7 VHLL_HUMAN von Hippel-Lindau tumor suppressor-like 26 protein ubiquitination nucleus endometrium(1)|lung(2)|ovary(1) 4 Hepatocellular(266;0.158) CTCTTCCTGGCAGTACTCTTC 0.632000 47 87 0 0 0.003610 0 0 HOGA1 112817 broad.mit.edu 37 10 99344567 99344567 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr10:99344567C>T ENST00000370646.4 + 1 468 c.107C>T c.(106-108)gCg>gTg p.A36V HOGA1_ENST00000370647.4_Missense_Mutation_p.A36V|PI4K2A_ENST00000555577.1_Missense_Mutation_p.A36V|PI4K2A_ENST00000370649.3_Missense_Mutation_p.A36V NM_138413.3 NP_612422.2 4-hydroxy-2-oxoglutarate aldolase 1 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1) 14 GTGGACATTGCGGGTATCTAC 0.597000 5 112 0 0 0.000602 0 0 DOCK7 85440 broad.mit.edu 37 1 62995065 62995065 + Missense_Mutation SNP T T A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:62995065T>A ENST00000251157.5 - 30 3697 c.3664A>T c.(3664-3666)Agt>Tgt p.S1222C DOCK7_ENST00000340370.5_Missense_Mutation_p.S1191C NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1222 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 GAGTCGTGACTGGAGAGTAAA 0.413000 27 26 0 0 0.005443 0 0 TRIM51 84767 broad.mit.edu 37 11 55655715 55655715 + Missense_Mutation SNP A A G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:55655715A>G ENST00000449290.2 + 4 807 c.715A>G c.(715-717)Aaa>Gaa p.K239E TRIM51_ENST00000244891.3_Missense_Mutation_p.K96E NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 239 intracellular zinc ion binding AATGTGCCATAAAGCAGATGT 0.443000 13 14 0 0 0.003163 0 0 CSMD3 114788 broad.mit.edu 37 8 114326875 114326875 + Nonsense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:114326875G>T ENST00000297405.5 - 2 570 c.326C>A c.(325-327)tCa>tAa p.S109* CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S69*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S109*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S109* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 109 CUB 1. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TAGAGCAAATGACTGAAAAAC 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 28 65 2.44723e-14 3.62352e-14 0.004656 1 0 HDC 3067 broad.mit.edu 37 15 50545802 50545802 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr15:50545802G>T ENST00000267845.3 - 7 1184 c.782C>A c.(781-783)cCc>cAc p.P261H HDC_ENST00000543581.1_Missense_Mutation_p.P261H NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 261 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) CTTACAGATGGGGCCCAGCTC 0.478000 24 40 2.50493e-22 4.04411e-22 0.004656 1 0 PLEKHG2 64857 broad.mit.edu 37 19 39911746 39911746 + Silent SNP A A T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:39911746A>T ENST00000409794.3 + 15 2329 c.1479A>T c.(1477-1479)ccA>ccT p.P493P PLEKHG2_ENST00000409797.2_Silent_p.P493P|PLEKHG2_ENST00000425673.1_Intron|PLEKHG2_ENST00000458508.2_Silent_p.P434P|PLEKHG2_ENST00000378550.1_Silent_p.P493P NM_022835.2 NP_073746.2 Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 493 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TCATGTTCCCACAGAACGGTC 0.637000 11 9 0 0 0.000978 0 0 ZNF835 90485 broad.mit.edu 37 19 57175427 57175427 + Silent SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:57175427G>A ENST00000537055.2 - 2 1371 c.1140C>T c.(1138-1140)caC>caT p.H380H NM_001005850.2 NP_001005850.2 zinc finger protein 835 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 GCACGAGGCGGTGCTGGAGGA 0.672000 3 24 0 0 0.004672 0 0 NLGN3 54413 broad.mit.edu 37 X 70373331 70373331 + Silent SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:70373331C>A ENST00000374051.3 + 3 784 c.462C>A c.(460-462)tcC>tcA p.S154S NLGN3_ENST00000536169.1_Intron|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Silent_p.S174S NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 174 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) CCCCAGGATCCGGCGCTAAGA 0.557000 6 16 1.06961e-07 1.39832e-07 0.003080 1 0 HPS5 11234 broad.mit.edu 37 11 18306904 18306904 + Silent SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:18306904G>A ENST00000396253.3 - 19 3060 c.2598C>T c.(2596-2598)tgC>tgT p.C866C HPS5_ENST00000537258.1_Silent_p.C87C|HPS5_ENST00000438420.2_Silent_p.C866C|HPS5_ENST00000349215.3_Silent_p.C980C|HPS5_ENST00000352460.3_Intron NM_007216.3 NP_009147.3 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 980 cytosol breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 CACAAGACCTGCAGATGTCTG 0.348000 Hermansky-Pudlak syndrome 21 9 0 0 0.001882 0 0 AMOTL1 154810 broad.mit.edu 37 11 94533413 94533413 + Missense_Mutation SNP C C G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:94533413C>G ENST00000433060.2 + 3 1198 c.1057C>G c.(1057-1059)Cag>Gag p.Q353E AMOTL1_ENST00000317837.9_Missense_Mutation_p.Q353E|AMOTL1_ENST00000317829.8_Missense_Mutation_p.Q303E NM_130847.2 NP_570899.1 Q8IY63 AMOL1_HUMAN angiomotin like 1 353 cytoplasm|tight junction identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 36 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) CCCTGCTCCTCAGCCTGTGAG 0.567000 25 176 0 0 0.003330 0 0 UBBP4 23666 broad.mit.edu 37 17 21731186 21731186 + Missense_Mutation SNP A A G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr17:21731186A>G ENST00000584755.1 + 2 885 c.488A>G c.(487-489)aAg>aGg p.K163R UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.K163R|UBBP4_ENST00000584398.1_3'UTR endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 CTGACCGGCAAGACCATCACC 0.532000 10 83 0 0 0.000978 0 0 ITFG2 55846 broad.mit.edu 37 12 2930955 2930955 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:2930955C>T ENST00000228799.2 + 9 1084 c.945C>T c.(943-945)gtC>gtT p.V315V ITFG2_ENST00000542548.1_Silent_p.V203V|ITFG2_ENST00000419778.2_Silent_p.V138V NM_018463.3 NP_060933.3 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 315 central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(31;0.000818) AACTGGATGTCACCGTGAGTG 0.502000 47 79 0 0 0.003610 0 0 ASXL3 80816 broad.mit.edu 37 18 31326095 31326095 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr18:31326095G>A ENST00000269197.5 + 12 6283 c.6283G>A c.(6283-6285)Gaa>Aaa p.E2095K NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 2095 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CAGCAGCTGTGAACTGGGCAT 0.408000 46 40 0 0 0.003610 0 0 AMACR 23600 broad.mit.edu 37 5 34004754 34004754 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:34004754C>A ENST00000335606.6 - 3 565 c.477G>T c.(475-477)atG>atT p.M159I AMACR_ENST00000514195.1_Intron|AMACR_ENST00000441713.2_Intron|AMACR_ENST00000382085.3_Missense_Mutation_p.M159I|AMACR_ENST00000502637.1_Missense_Mutation_p.M159I|AMACR_ENST00000382072.2_Intron NM_001167595.1|NM_014324.5 NP_001161067.1|NP_055139.4 Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase 159 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase mitochondrion|peroxisomal matrix alpha-methylacyl-CoA racemase activity endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 19 CCAGTGCACACATAAGGCCAC 0.463000 18 42 5.01169e-05 5.86521e-05 0.004990 1 0 OR2L2 26246 broad.mit.edu 37 1 248201900 248201900 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:248201900G>A ENST00000366479.2 + 1 427 c.331G>A c.(331-333)Ggg>Agg p.G111R OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) AGTTGCAGAAGGGCTGCTCCT 0.423000 73 45 0 0 0.003610 0 0 DMD 1756 broad.mit.edu 37 X 32380967 32380967 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:32380967G>T ENST00000357033.4 - 37 5469 c.5263C>A c.(5263-5265)Ccc>Acc p.P1755T DMD_ENST00000378677.2_Missense_Mutation_p.P1751T NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1755 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GAGATTTGGGGCTCTACTAAT 0.473000 46 40 2.81731e-22 4.49428e-22 0.003610 1 0 PRUNE2 158471 broad.mit.edu 37 9 79323992 79323992 + Silent SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr9:79323992G>A ENST00000428286.1 - 8 3321 c.2121C>T c.(2119-2121)tcC>tcT p.S707S PRUNE2_ENST00000376718.3_Silent_p.S1066S Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1066 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CATCCTCCATGGAGATATTCT 0.453000 18 34 0 0 0.004990 0 0 ZNF234 10780 broad.mit.edu 37 19 44661481 44661481 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:44661481C>T ENST00000426739.2 + 6 1570 c.1312C>T c.(1312-1314)Cgt>Tgt p.R438C ZNF234_ENST00000592437.1_Missense_Mutation_p.R438C NM_006630.2 NP_006621.1 Q14588 ZN234_HUMAN zinc finger protein 234 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) TAAAGCCTTCCGTCAGAGTTC 0.418000 6 33 0 0 0.001168 0 0 C1QB 713 broad.mit.edu 37 1 22986050 22986050 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:22986050C>A ENST00000509305.1 + 2 441 c.95C>A c.(94-96)cCc>cAc p.P32H C1QB_ENST00000314933.6_Missense_Mutation_p.P34H P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 34 complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TGCACCGGGCCCCCAGCCATC 0.597000 6 12 0.00198382 0.00218791 0.001984 1 0 SLC25A32 81034 broad.mit.edu 37 8 104420013 104420013 + Splice_Site SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:104420013C>A ENST00000297578.4 - 2 321 c.e2-1 SLC25A32_ENST00000543107.1_Splice_Site NM_030780.3 NP_110407.2 Q9H2D1 MFTC_HUMAN solute carrier family 25 (mitochondrial folate carrier), member 32 folic acid metabolic process|mitochondrial transport integral to membrane|mitochondrial inner membrane binding|folic acid transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 9 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) Folic Acid(DB00158) CCATCACTCACTGCATCAAGG 0.373000 50 39 7.05377e-20 1.11859e-19 0.003610 1 0 VN1R2 317701 broad.mit.edu 37 19 53761983 53761983 + Missense_Mutation SNP T T A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:53761983T>A ENST00000341702.3 + 1 439 c.355T>A c.(355-357)Tac>Aac p.Y119N NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 119 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) CTTTAGGGGATACAAGCCAAG 0.428000 11 6 0 0 0.001368 0 0 C1QB 713 broad.mit.edu 37 1 22986051 22986051 + Silent SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:22986051C>A ENST00000509305.1 + 2 442 c.96C>A c.(94-96)ccC>ccA p.P32P C1QB_ENST00000314933.6_Silent_p.P34P P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 34 complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GCACCGGGCCCCCAGCCATCC 0.597000 6 12 0.00198382 0.00218791 0.001984 1 0 PCDHGA1 56114 broad.mit.edu 37 5 140711076 140711076 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:140711076G>T ENST00000517417.1 + 1 825 c.825G>T c.(823-825)ggG>ggT p.G275G PCDHGA1_ENST00000378105.3_Silent_p.G275G NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCCAATGGGGAAGTAACGT 0.438000 23 36 3.5997e-14 5.27169e-14 0.002299 1 0 SLC5A4 6527 broad.mit.edu 37 22 32650132 32650132 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr22:32650132C>A ENST00000266086.4 - 2 215 c.204G>T c.(202-204)tgG>tgT p.W68C RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 68 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CACTTACCGGCCACCAGGCCA 0.522000 12 46 7.93312e-07 1.01242e-06 0.002450 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803493 142803493 + RNA SNP T T C rs80149641 by1000genomes TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:142803493T>C ENST00000423385.1 - 0 1472 TGTACATTTATTATTGATTTA 0.323000 13 26 0 0 0.002450 0 0 CELSR3 1951 broad.mit.edu 37 3 48697796 48697796 + Missense_Mutation SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr3:48697796T>C ENST00000544264.1 - 1 2552 c.2272A>G c.(2272-2274)Atg>Gtg p.M758V CELSR3_ENST00000164024.4_Missense_Mutation_p.M758V Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 758 Cadherin 5. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TACTCCTTCATTGTGAACTCA 0.567000 19 47 0 0 0.007413 0 0 PCDH11X 27328 broad.mit.edu 37 X 91873896 91873896 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:91873896C>A ENST00000373094.1 + 7 4846 c.4001C>A c.(4000-4002)cCg>cAg p.P1334Q PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1297Q|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1324Q|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1326Q|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1316Q|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1297Q NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1334 homophilic cell adhesion integral to plasma membrane calcium ion binding p.P1334L(1) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CAGGCCAGACCGTCCAGAGGT 0.378000 25 124 4.26978e-12 6.0545e-12 0.003330 1 0 NELFCD 51497 broad.mit.edu 37 20 57568155 57568155 + Silent SNP G G A rs141996345 byFrequency TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr20:57568155G>A ENST00000602795.1 + 11 1434 c.1386G>A c.(1384-1386)gcG>gcA p.A462A NELFCD_ENST00000479207.1_3'UTR|NELFCD_ENST00000344018.3_Silent_p.A453A negative elongation factor complex member C/D TCCACCTGGCGTTGCTGGATG 0.502000 12 51 0 0 0.001368 0 0 SCPEP1 59342 broad.mit.edu 37 17 55083594 55083594 + Nonstop_Mutation SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr17:55083594T>C ENST00000262288.3 + 13 1412 c.1357T>C c.(1357-1359)Tag>Cag p.*453Q NM_021626.2 NP_067639.1 Q9HB40 RISC_HUMAN serine carboxypeptidase 1 0 proteolysis extracellular region serine-type carboxypeptidase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 14 Breast(9;2.86e-08) TCAGCAAGAATAGGATGGATG 0.512000 22 85 0 0 0.002299 0 0 KIAA0368 23392 broad.mit.edu 37 9 114246668 114246668 + Missense_Mutation SNP A A G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr9:114246668A>G ENST00000259335.4 - 2 244 c.245T>C c.(244-246)tTt>tCt p.F82S NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 GGACTCAGAAAAGTAGAGCCG 0.697000 6 13 0 0 0.004482 0 0 SLC5A4 6527 broad.mit.edu 37 22 32650133 32650133 + Missense_Mutation SNP C C A rs148427710 TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr22:32650133C>A ENST00000266086.4 - 2 214 c.203G>T c.(202-204)tGg>tTg p.W68L RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 68 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 ACTTACCGGCCACCAGGCCAT 0.527000 11 47 9.31168e-06 1.15534e-05 0.001855 1 0 TRANK1 9881 broad.mit.edu 37 3 36897333 36897333 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr3:36897333C>T ENST00000429976.2 - 12 3995 c.3748G>A c.(3748-3750)Gag>Aag p.E1250K TRANK1_ENST00000428977.2_Missense_Mutation_p.E700K|TRANK1_ENST00000301807.6_Missense_Mutation_p.E700K O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1250 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 ACCTCAGCCTCCTCTTCATCC 0.483000 23 82 0 0 0.002780 0 0 DSC3 1825 broad.mit.edu 37 18 28588372 28588372 + Missense_Mutation SNP A A T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr18:28588372A>T ENST00000434452.1 - 10 1537 c.1383T>A c.(1381-1383)caT>caA p.H461Q DSC3_ENST00000360428.4_Missense_Mutation_p.H461Q NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 461 Cadherin 3. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) GATCCCTCACATGAACTGTAA 0.473000 26 24 0 0 0.003330 0 0 TENM1 10178 broad.mit.edu 37 X 123516628 123516628 + Silent SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:123516628T>C ENST00000422452.2 - 31 7395 c.7332A>G c.(7330-7332)caA>caG p.Q2444Q TENM1_ENST00000371130.3_Silent_p.Q2437Q|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CATTGTGTAATTGGAAACCAA 0.338000 33 150 0 0 0.006999 0 0 ZP4 57829 broad.mit.edu 37 1 238053218 238053218 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:238053218G>T ENST00000366570.4 - 3 507 c.349C>A c.(349-351)Cac>Aac p.H117N RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 117 acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) ACCACCTTGTGTTCAGCCGCG 0.582000 169 100 7.29064e-110 1.26876e-109 0.003610 1 0 DPYSL4 10570 broad.mit.edu 37 10 134017425 134017425 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr10:134017425C>T ENST00000338492.4 + 13 1785 c.1621C>T c.(1621-1623)Cta>Tta p.L541L DPYSL4_ENST00000368627.1_Silent_p.L381L|DPYSL4_ENST00000368629.1_Silent_p.L381L NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 541 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) GGGGTTCAGCCTATCTGGTGA 0.692000 71 37 0 0 0.003610 0 0 CTNNA2 1496 broad.mit.edu 37 2 80773043 80773043 + Silent SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:80773043C>A ENST00000466387.1 + 15 2119 c.1395C>A c.(1393-1395)gcC>gcA p.A465A CTNNA2_ENST00000541047.1_Silent_p.A465A|CTNNA2_ENST00000361291.4_Silent_p.A499A|CTNNA2_ENST00000402739.4_Silent_p.A465A|CTNNA2_ENST00000540488.1_Silent_p.A465A|CTNNA2_ENST00000343114.3_Silent_p.A144A|CTNNA2_ENST00000496558.1_Silent_p.A465A P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 465 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 TCATCAATGCCGCTCTGACAC 0.498000 14 19 6.31663e-08 8.33919e-08 0.003163 1 0 MAGEH1 28986 broad.mit.edu 37 X 55478884 55478884 + Missense_Mutation SNP A A G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:55478884A>G ENST00000342972.1 + 1 347 c.77A>G c.(76-78)cAg>cGg p.Q26R NM_014061.3 NP_054780.2 Q9H213 MAGH1_HUMAN melanoma antigen family H, 1 26 MAGE. apoptosis central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2) 15 CGCAAAATCCAGGCCTCAGAG 0.632000 7 13 0 0 0.003080 0 0 OR4N2 390429 broad.mit.edu 37 14 20295901 20295901 + Silent SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr14:20295901C>A ENST00000315947.1 + 1 294 c.294C>A c.(292-294)atC>atA p.I98I OR4N2_ENST00000568211.1_Silent_p.I98I NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GAGGCTGCATCACTCAGCTCT 0.532000 111 61 4.58075e-42 7.81936e-42 0.003610 1 0 SPACA1 81833 broad.mit.edu 37 6 88757717 88757717 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr6:88757717G>A ENST00000237201.1 + 1 211 c.94G>A c.(94-96)Gtc>Atc p.V32I NM_030960.2 NP_112222.1 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 32 integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) CGGGACCAACGTCACCGCTGC 0.701000 3 14 0 0 0.004672 0 0 SLC9A4 389015 broad.mit.edu 37 2 103149083 103149083 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:103149083C>A ENST00000295269.4 + 12 2790 c.2333C>A c.(2332-2334)aCa>aAa p.T778K NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 778 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 TCGAGGTGGACAGCTGACCAT 0.498000 13 6 0.00185496 0.00208004 0.001855 1 0 ANKMY2 57037 broad.mit.edu 37 7 16666726 16666726 + Silent SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr7:16666726G>A ENST00000306999.2 - 3 453 c.210C>T c.(208-210)gcC>gcT p.A70A NM_020319.2 NP_064715.1 Q8IV38 ANKY2_HUMAN ankyrin repeat and MYND domain containing 2 70 cilium zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 23 Lung NSC(10;0.103)|all_lung(11;0.204) UCEC - Uterine corpus endometrioid carcinoma (126;0.195) AATTTACATCGGCTCCATGTC 0.358000 7 20 0 0 0.008291 0 0 ZIC3 7547 broad.mit.edu 37 X 136649818 136649818 + Missense_Mutation SNP C C T rs122462165 TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:136649818C>T ENST00000287538.5 + 1 1518 c.968C>T c.(967-969)aCg>aTg p.T323M ZIC3_ENST00000370606.3_Missense_Mutation_p.T323M NM_003413.3 NP_003404.1 O60481 ZIC3_HUMAN Zic family member 3 323 T -> M (in HTX1; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3). cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) CGAGTGCACACGGGCGAGAAG 0.592000 13 146 0 0 0.001855 0 0 CFP 5199 broad.mit.edu 37 X 47487635 47487635 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:47487635G>A ENST00000247153.3 - 4 510 c.269C>T c.(268-270)tCg>tTg p.S90L CFP_ENST00000377005.2_Missense_Mutation_p.S90L|CFP_ENST00000480317.1_5'UTR|CFP_ENST00000396992.3_Missense_Mutation_p.S90L NM_002621.2 NP_002612.1 P27918 PROP_HUMAN complement factor properdin 90 TSP type-1 1. complement activation, alternative pathway|defense response to bacterium extracellular space breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 18 GCACGTCACCGAACAGGGGGC 0.627000 4 22 0 0 0.009096 0 0 LGALS4 3960 broad.mit.edu 37 19 39292738 39292738 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:39292738C>T ENST00000307751.4 - 9 1196 c.719G>A c.(718-720)cGc>cAc p.R240H NM_006149.3 NP_006140.1 P56470 LEG4_HUMAN lectin, galactoside-binding, soluble, 4 240 Galectin 2. cell adhesion cytosol|plasma membrane sugar binding NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 all_cancers(60;1.02e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) GTTGCCCATGCGGGGATTAAT 0.567000 22 20 0 0 0.010504 0 0 ZNF676 163223 broad.mit.edu 37 19 22363718 22363718 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:22363718G>T ENST00000397121.2 - 3 1118 c.801C>A c.(799-801)acC>acA p.T267T NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 267 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GTGTATTAAGGGTTGAGACGC 0.388000 30 10 5.60225e-13 8.07206e-13 0.009535 1 0 CYP1A2 1544 broad.mit.edu 37 15 75045584 75045584 + Missense_Mutation SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr15:75045584T>C ENST00000343932.4 + 6 1289 c.1226T>C c.(1225-1227)gTa>gCa p.V409A NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 409 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) TGTGTCTTCGTAAACCAGTGG 0.522000 3 29 0 0 0.004672 0 0 SAGE1 55511 broad.mit.edu 37 X 134988265 134988265 + Silent SNP C C G rs151240146 TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:134988265C>G ENST00000535938.1 + 6 704 c.537C>G c.(535-537)ccC>ccG p.P179P SAGE1_ENST00000370709.3_Silent_p.P179P|SAGE1_ENST00000324447.3_Silent_p.P179P|SAGE1_ENST00000537770.1_Intron NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 179 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) CAACTGGTCCCACAGGGCTTA 0.433000 28 89 0 0 0.008361 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 3 61 0 0 0.004672 0 0 SLC6A18 348932 broad.mit.edu 37 5 1232907 1232907 + Missense_Mutation SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:1232907T>C ENST00000324642.3 + 3 466 c.343T>C c.(343-345)Tac>Cac p.Y115H SLC6A18_ENST00000296821.4_Missense_Mutation_p.Y115H NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 115 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CAGCCTGTACTACAACACCAT 0.637000 23 43 0 0 0.001882 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 5 7 8.12818e-05 9.38945e-05 0.001984 1 0 PKN1 5585 broad.mit.edu 37 19 14569148 14569148 + Silent SNP G G C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:14569148G>C ENST00000242783.6 + 9 1545 c.1380G>C c.(1378-1380)gtG>gtC p.V460V PKN1_ENST00000342216.4_Silent_p.V466V NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 460 C2. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 GGCATGAGGTGCAGCTGGACA 0.572000 11 19 0 0 0.001368 0 0 DNAH17 8632 broad.mit.edu 37 17 76521120 76521120 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr17:76521120G>T ENST00000389840.5 - 25 3947 c.3823C>A c.(3823-3825)Ctg>Atg p.L1275M DNAH17_ENST00000585328.1_Missense_Mutation_p.L1276M dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGCTCCTTCAGTAGGCGGACC 0.667000 9 58 2.80697e-09 3.81862e-09 0.000978 1 0 TDRD10 126668 broad.mit.edu 37 1 154516441 154516441 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:154516441G>T ENST00000368482.4 + 9 1344 c.506G>T c.(505-507)gGg>gTg p.G169V TDRD10_ENST00000368480.3_Missense_Mutation_p.G169V|TDRD10_ENST00000479937.1_3'UTR NM_001098475.1|NM_182499.3 NP_001091945.1|NP_872305.3 Q5VZ19 TDR10_HUMAN tudor domain containing 10 169 nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) TCCCGCAGAGGGTCCTTCCTG 0.617000 106 194 1.06508e-68 1.84156e-68 0.003610 1 0 COL3A1 1281 broad.mit.edu 37 2 189855031 189855031 + Splice_Site SNP A A T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:189855031A>T ENST00000304636.3 + 10 914 c.e10-1 COL3A1_ENST00000317840.5_Splice_Site NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CATTATTTTTAGGGTATCAAA 0.328000 4 6 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179474204 179474204 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:179474204G>T ENST00000589042.1 - 273 52057 c.51833C>A c.(51832-51834)aCt>aAt p.T17278N TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T15637N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T8338N|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T14710N|TTN_ENST00000342175.6_Missense_Mutation_p.T8405N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T8213N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15637 Fibronectin type-III 25. 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) CCATGTAATAGTTGGGTAAGG 0.408000 27 36 3.01185e-09 4.07664e-09 0.003954 1 0 WWP1 11059 broad.mit.edu 37 8 87393038 87393038 + Missense_Mutation SNP A A G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:87393038A>G ENST00000517970.1 + 4 461 c.154A>G c.(154-156)Aaa>Gaa p.K52E WWP1_ENST00000349423.2_Intron|WWP1_ENST00000265428.4_Missense_Mutation_p.K52E|WWP1_ENST00000341922.2_Missense_Mutation_p.K52E|WWP1_ENST00000523863.1_3'UTR NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 52 C2. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 AGAAATTACGAAAACAGCAAA 0.343000 5 30 0 0 0.001168 0 0 KLHL14 57565 broad.mit.edu 37 18 30349741 30349741 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr18:30349741G>T ENST00000359358.4 - 2 1252 c.814C>A c.(814-816)Ccg>Acg p.P272T KLHL14_ENST00000358095.4_Missense_Mutation_p.P272T NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 272 BACK. cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 ACCAGCTCCGGGGCCGGGATG 0.637000 16 40 2.31682e-05 2.78434e-05 0.003163 1 0 OR8K1 390157 broad.mit.edu 37 11 56113597 56113597 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:56113597G>A ENST00000279783.2 + 1 177 c.83G>A c.(82-84)gGg>gAg p.G28E NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) GACAACCCTGGGCTGCAGGCT 0.458000 HNSCC(65;0.19) 6 26 0 0 0.001168 0 0 RYR2 6262 broad.mit.edu 37 1 237774190 237774190 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:237774190G>T ENST00000366574.2 + 36 5129 c.4812G>T c.(4810-4812)ttG>ttT p.L1604F RYR2_ENST00000542537.1_Missense_Mutation_p.L1588F|RYR2_ENST00000360064.6_Missense_Mutation_p.L1602F NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1604 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACCAGTTTTTGAAGGTAGATG 0.537000 6 20 3.59834e-05 4.30515e-05 0.001168 1 0 NEB 4703 broad.mit.edu 37 2 152548676 152548676 + Missense_Mutation SNP C C G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:152548676C>G ENST00000427231.2 - 22 2205 c.2003G>C c.(2002-2004)aGa>aCa p.R668T NEB_ENST00000397345.3_Missense_Mutation_p.R668T|NEB_ENST00000603639.1_Missense_Mutation_p.R668T|NEB_ENST00000604864.1_Missense_Mutation_p.R668T|NEB_ENST00000409198.1_Missense_Mutation_p.R668T|NEB_ENST00000172853.10_Missense_Mutation_p.R668T NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 668 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GTCTTTATATCTAGCCTGAAA 0.388000 33 48 0 0 0.002445 0 0 TPP1 1200 broad.mit.edu 37 11 6640117 6640117 + Missense_Mutation SNP C C G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:6640117C>G ENST00000299427.6 - 3 179 c.119G>C c.(118-120)cGt>cCt p.R40P RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000534644.1_Intron|TPP1_ENST00000533371.1_5'UTR|TPP1_ENST00000528657.1_3'UTR NM_000391.3 NP_000382.3 O14773 TPP1_HUMAN tripeptidyl peptidase I 40 bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) AGGGTCCGCACGGCCCAGGGA 0.587000 32 31 0 0 0.002836 0 0 VGLL2 245806 broad.mit.edu 37 6 117586942 117586942 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr6:117586942G>A ENST00000326274.5 + 1 206 c.16G>A c.(16-18)Gtt>Att p.V6I VGLL2_ENST00000352536.3_Missense_Mutation_p.V6I NM_182645.2 NP_872586.1 Q8N8G2 VGLL2_HUMAN vestigial like 2 (Drosophila) 6 transcription, DNA-dependent nucleus central_nervous_system(1)|kidney(1)|lung(3) 5 GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757) CTGTCTGGATGTTATGTACCA 0.577000 25 8 0 0 0.004656 0 0 GIF 2694 broad.mit.edu 37 11 59603316 59603316 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:59603316G>T ENST00000541311.1 - 7 1197 c.963C>A c.(961-963)gtC>gtA p.V321V GIF_ENST00000257248.2_Silent_p.V346V P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 346 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 CTTCCTCTAGGACAACAAGTA 0.413000 41 54 3.05275e-18 4.72911e-18 0.003214 1 0 PKN1 5585 broad.mit.edu 37 19 14569149 14569149 + Nonsense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:14569149C>T ENST00000242783.6 + 9 1546 c.1381C>T c.(1381-1383)Cag>Tag p.Q461* PKN1_ENST00000342216.4_Nonsense_Mutation_p.Q467* NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 461 C2. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 GCATGAGGTGCAGCTGGACAT 0.567000 11 20 0 0 0.001368 0 0 BNC2 54796 broad.mit.edu 37 9 16419339 16419339 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr9:16419339C>A ENST00000380672.4 - 7 3005 c.2948G>T c.(2947-2949)gGc>gTc p.G983V BNC2_ENST00000380667.2_Missense_Mutation_p.G916V|BNC2_ENST00000545497.1_Missense_Mutation_p.G888V NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 983 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) CTCATCGCTGCCTGCGTCGGA 0.617000 15 22 1.49906e-05 1.81786e-05 0.002450 1 0 TRO 7216 broad.mit.edu 37 X 54956321 54956321 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:54956321C>A ENST00000173898.7 + 12 3276 c.3164C>A c.(3163-3165)aCc>aAc p.T1055N TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.T586N|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.T658N NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 1055 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 TCTCCCAGCACCAGTGCTGGC 0.562000 18 45 5.03518e-11 7.06507e-11 0.007413 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146997361 146997361 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr7:146997361G>T ENST00000361727.3 + 9 1993 c.1477G>T c.(1477-1479)Ggc>Tgc p.G493C NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 493 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AGTTAAAACTGGCGAGAAGTA 0.378000 HNSCC(39;0.1) 20 34 2.4624e-09 3.36695e-09 0.008871 1 0 SFXN5 94097 broad.mit.edu 37 2 73268002 73268002 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:73268002G>A ENST00000272433.2 - 3 360 c.230C>T c.(229-231)cCg>cTg p.P77L SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Missense_Mutation_p.P77L NM_144579.2 NP_653180.1 Q8TD22 SFXN5_HUMAN sideroflexin 5 77 iron ion homeostasis integral to membrane cation transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 GGTGACCCCCGGGCGCAGGGT 0.557000 4 31 0 0 0.000602 0 0 FAM83A 84985 broad.mit.edu 37 8 124195334 124195334 + Missense_Mutation SNP T T A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:124195334T>A ENST00000518448.1 + 2 2252 c.238T>A c.(238-240)Tgt>Agt p.C80S FAM83A_ENST00000276699.6_Missense_Mutation_p.C80S|FAM83A_ENST00000522648.1_Missense_Mutation_p.C80S|FAM83A_ENST00000546351.1_Missense_Mutation_p.C80S|FAM83A_ENST00000536633.1_Missense_Mutation_p.C80S|FAM83A_ENST00000318462.6_Missense_Mutation_p.C80S Q86UY5 FA83A_HUMAN family with sequence similarity 83, member A 80 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) GGAGCCCCCGTGTCCCCCAGA 0.662000 41 40 0 0 0.008740 0 0 CERCAM 51148 broad.mit.edu 37 9 131193497 131193497 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr9:131193497C>T ENST00000372842.1 + 10 4028 c.884C>T c.(883-885)cCg>cTg p.P295L CERCAM_ENST00000372838.4_Missense_Mutation_p.P373L Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 373 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane p.P295Q(1)|p.P373Q(1) endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 GACCTGCTCCCGGGCTACCAG 0.642000 28 116 0 0 0.007291 0 0 SERGEF 26297 broad.mit.edu 37 11 17981157 17981157 + Nonsense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:17981157G>A ENST00000265965.5 - 9 1022 c.871C>T c.(871-873)Cga>Tga p.R291* SERGEF_ENST00000528200.1_Intron|SERGEF_ENST00000532265.1_Intron NM_012139.2 NP_036271.1 Q9UGK8 SRGEF_HUMAN secretion regulating guanine nucleotide exchange factor 291 negative regulation of protein secretion|signal transduction cytoplasm|nucleus protein binding|Ran guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5) 12 TAGTCTGCTCGGCCCCAGGTA 0.428000 5 30 0 0 0.001168 0 0 WDR78 79819 broad.mit.edu 37 1 67327898 67327898 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:67327898G>A ENST00000371026.3 - 7 1083 c.1028C>T c.(1027-1029)tCa>tTa p.S343L WDR78_ENST00000431318.1_Missense_Mutation_p.S89L|WDR78_ENST00000493572.1_5'UTR|WDR78_ENST00000371023.3_Missense_Mutation_p.S343L NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 343 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 TTTACTACTTGACTCAACCAC 0.338000 7 72 0 0 0.003080 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142500655 142500655 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:142500655C>T ENST00000378004.3 + 18 1996 c.1641C>T c.(1639-1641)atC>atT p.I547I ARHGAP26_ENST00000274498.4_Silent_p.I547I NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 547 Rho-GAP. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TAGCAGCCATCATGGACATCA 0.433000 41 85 0 0 0.006999 0 0 PA2G4 5036 broad.mit.edu 37 12 56498499 56498499 + Translation_Start_Site SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:56498499G>A ENST00000303305.6 + 0 397 RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_De_novo_Start_OutOfFrame|RP11-603J24.9_ENST00000548861.1_Intron NM_006191.2 NP_006182.2 Q9UQ80 PA2G4_HUMAN proliferation-associated 2G4, 38kDa cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(18;0.0739) GGGAAACGAGGCTGCAGTGGT 0.627000 17 72 0 0 0.002299 0 0 KIAA1109 84162 broad.mit.edu 37 4 123264593 123264593 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr4:123264593C>T ENST00000264501.4 + 73 12754 c.12381C>T c.(12379-12381)ggC>ggT p.G4127G KIAA1109_ENST00000388738.3_Silent_p.G4127G Q2LD37 K1109_HUMAN KIAA1109 4127 Ser-rich. regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GCCCTCTTGGCCGAAGTCGAC 0.433000 10 28 0 0 0.001855 0 0 RAD50 10111 broad.mit.edu 37 5 131895051 131895051 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:131895051G>T ENST00000265335.6 + 2 592 c.205G>T c.(205-207)Gat>Tat p.D69Y RAD50_ENST00000378823.3_5'UTR Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 69 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding p.D69Y(1)|p.D69N(1) breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATTTGTACACGATCCCAAGGT 0.284000 Homologous recombination 21 8 3.7963e-18 5.84718e-18 0.003330 1 0 KIF5A 3798 broad.mit.edu 37 12 57969439 57969439 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:57969439G>T ENST00000455537.2 + 17 2196 c.1922G>T c.(1921-1923)cGc>cTc p.R641L KIF5A_ENST00000286452.5_Missense_Mutation_p.R552L NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 641 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 GCCAAGATCCGCTCGCTTACG 0.557000 25 141 1.36565e-18 2.12787e-18 0.002780 1 0 AFAP1 60312 broad.mit.edu 37 4 7802188 7802188 + Missense_Mutation SNP T T A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr4:7802188T>A ENST00000420658.1 - 10 1519 c.1247A>T c.(1246-1248)cAg>cTg p.Q416L AFAP1_ENST00000382543.3_Missense_Mutation_p.Q416L|AFAP1_ENST00000358461.2_Missense_Mutation_p.Q416L|AFAP1_ENST00000360265.4_Missense_Mutation_p.Q416L NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 416 PH 2. actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 TGCAACCTCCTGGCCGTTGCG 0.547000 4 17 0 0 0.000602 0 0 ZC3H3 23144 broad.mit.edu 37 8 144557696 144557696 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:144557696C>T ENST00000262577.5 - 5 1806 c.1775G>A c.(1774-1776)gGc>gAc p.G592D NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 592 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CCAAGGGGAGCCCGGTTGGGC 0.632000 7 43 0 0 0.003080 0 0 KRT79 338785 broad.mit.edu 37 12 53216924 53216924 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:53216924G>T ENST00000330553.5 - 7 1277 c.1243C>A c.(1243-1245)Ctg>Atg p.L415M NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 415 Coil 2.|Rod. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCCTGGTGCAGGGCCACATCC 0.612000 30 36 1.7881e-09 2.47016e-09 0.008361 1 0 ARHGEF6 9459 broad.mit.edu 37 X 135829707 135829707 + Translation_Start_Site SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:135829707C>A ENST00000370622.1 - 0 259 ARHGEF6_ENST00000370620.1_De_novo_Start_OutOfFrame|ARHGEF6_ENST00000250617.6_Missense_Mutation_p.K98N|ARHGEF6_ENST00000535227.1_De_novo_Start_OutOfFrame Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) TACTCAGTACCTTGGAGAAAT 0.378000 10 47 3.86212e-05 4.55968e-05 0.008291 1 0 FAM47B 170062 broad.mit.edu 37 X 34961693 34961693 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:34961693G>A ENST00000329357.5 + 1 781 c.745G>A c.(745-747)Gtg>Atg p.V249M NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 249 Pro-rich. p.V249M(1) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 TCATCTCCGCGTGGATCCTCC 0.627000 19 80 0 0 0.001882 0 0 GRM7 2917 broad.mit.edu 37 3 7721841 7721841 + Missense_Mutation SNP G G C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr3:7721841G>C ENST00000486284.1 + 9 2831 c.2557G>C c.(2557-2559)Gaa>Caa p.E853Q GRM7_ENST00000357716.4_Missense_Mutation_p.E853Q|GRM7_ENST00000389336.4_Missense_Mutation_p.E853Q|GRM7_ENST00000402647.2_Missense_Mutation_p.E853Q|GRM7_ENST00000403881.1_Missense_Mutation_p.E853Q NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 853 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TTTCCACCCTGAACTCAATGT 0.502000 41 23 0 0 0.002852 0 0 KLC1 3831 broad.mit.edu 37 14 104129247 104129247 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr14:104129247C>T ENST00000389744.4 + 5 1049 c.780C>T c.(778-780)atC>atT p.I260I KLC1_ENST00000554280.1_Silent_p.I260I|KLC1_ENST00000348520.6_Silent_p.I260I|KLC1_ENST00000445352.4_Silent_p.I260I|KLC1_ENST00000347839.6_Silent_p.I260I|KLC1_ENST00000380038.3_Silent_p.I260I|KLC1_ENST00000452929.2_Silent_p.I260I|KLC1_ENST00000555836.1_Silent_p.I260I|KLC1_ENST00000334553.6_Silent_p.I260I|KLC1_ENST00000246489.7_Silent_p.I260I|KLC1_ENST00000557575.1_Silent_p.I260I|KLC1_ENST00000553286.1_Silent_p.I260I|KLC1_ENST00000557450.1_Silent_p.I260I|RP11-73M18.2_ENST00000472726.2_Silent_p.I432I Q07866 KLC1_HUMAN kinesin light chain 1 260 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding KLC1/ALK(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 12 Melanoma(154;0.155)|all_epithelial(191;0.19) TGCTCAACATCCTGGCCTTGG 0.493000 5 30 0 0 0.000602 0 0 FAM13C 220965 broad.mit.edu 37 10 61112030 61112030 + Splice_Site SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr10:61112030C>A ENST00000373867.3 - 4 540 c.75_splice c.e4+1 p.Q25_splice FAM13C_ENST00000435852.2_Splice_Site_p.Q108_splice|FAM13C_ENST00000442566.3_Splice_Site_p.Q108_splice|FAM13C_ENST00000422313.2_Splice_Site_p.Q108_splice|FAM13C_ENST00000373868.2_Splice_Site_p.Q108_splice|FAM13C_ENST00000419214.2_Splice_Site_p.Q108_splice|FAM13C_ENST00000468840.2_Splice_Site_p.Q25_splice|FAM13C_ENST00000277705.6_Splice_Site_p.Q108_splice NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 108 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GAGCTGCTACCTGACTTTCTC 0.562000 48 24 8.00217e-19 1.25414e-18 0.003610 1 0 DYNC1I1 1780 broad.mit.edu 37 7 95726812 95726812 + Silent SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr7:95726812T>C ENST00000324972.6 + 17 2038 c.1845T>C c.(1843-1845)aaT>aaC p.N615N DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000359388.4_Silent_p.N578N|DYNC1I1_ENST00000437599.1_Silent_p.N595N|DYNC1I1_ENST00000457059.1_Silent_p.N598N|DYNC1I1_ENST00000447467.2_Silent_p.N598N NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 615 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) TTCCCCACAATGATGAATGGA 0.453000 36 33 0 0 0.008740 0 0 RBM48 84060 broad.mit.edu 37 7 92158138 92158138 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr7:92158138G>T ENST00000481551.1 + 1 52 c.11G>T c.(10-12)aGc>aTc p.S4I RBM48_ENST00000265732.5_Missense_Mutation_p.S4I Q5RL73 CG064_HUMAN RNA binding motif protein 48 4 nucleotide binding ATGGCGTCGAGCGGCGGGGAG 0.562000 8 20 5.18039e-06 6.51805e-06 0.003080 1 0 DNM1P46 196968 broad.mit.edu 37 15 100332640 100332640 + RNA SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr15:100332640G>A ENST00000341853.1 - 0 1551 NR_003260.1 GCGGCAACTGGAGGAGGACAT 0.632000 33 128 0 0 0.004289 0 0 CINP 51550 broad.mit.edu 37 14 102822165 102822165 + Silent SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr14:102822165C>A ENST00000216756.6 - 3 286 c.246G>T c.(244-246)ctG>ctT p.L82L CINP_ENST00000536961.2_Silent_p.L97L|CINP_ENST00000541568.2_Silent_p.L82L NM_032630.2 NP_116019.1 Q9BW66 CINP_HUMAN cyclin-dependent kinase 2 interacting protein 82 cell cycle|cell division|DNA repair|DNA replication nucleus protein binding large_intestine(2)|lung(2) 4 CGTTATATTCCAGACACACCT 0.438000 58 39 1.87854e-15 2.81257e-15 0.003610 1 0 ASH2L 9070 broad.mit.edu 37 8 37978623 37978623 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:37978623G>T ENST00000343823.6 + 10 1430 c.1121G>T c.(1120-1122)aGa>aTa p.R374I ASH2L_ENST00000545394.1_Missense_Mutation_p.R235I|ASH2L_ENST00000250635.7_Missense_Mutation_p.R280I|ASH2L_ENST00000521652.1_Missense_Mutation_p.R280I|ASH2L_ENST00000428278.2_Missense_Mutation_p.R280I NM_004674.4 NP_004665.2 Q9UBL3 ASH2L_HUMAN ash2 (absent, small, or homeotic)-like (Drosophila) 374 B30.2/SPRY. hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1) 19 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) GACCTCTACAGAGCCTGCTTG 0.483000 OREG0018719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 40 1.47244e-24 2.39161e-24 0.006230 1 0 NELL1 4745 broad.mit.edu 37 11 21555938 21555938 + Missense_Mutation SNP A A C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:21555938A>C ENST00000298925.5 + 17 1901 c.1748A>C c.(1747-1749)gAg>gCg p.E583A NELL1_ENST00000532434.1_Intron|NELL1_ENST00000325319.5_Missense_Mutation_p.E498A|NELL1_ENST00000357134.5_Missense_Mutation_p.E555A|NELL1_ENST00000529218.1_3'UTR Q92832 NELL1_HUMAN NEL-like 1 (chicken) 555 EGF-like 5; calcium-binding (Potential). 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 GAATGTTCAGAGGGAATCATT 0.458000 13 45 0 0 0.002450 0 0 ADAM19 8728 broad.mit.edu 37 5 156997967 156997967 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:156997967G>T ENST00000257527.4 - 2 194 c.116C>A c.(115-117)cCc>cAc p.P39H ADAM19_ENST00000394020.1_Missense_Mutation_p.P41H|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000517905.1_Missense_Mutation_p.P39H NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 39 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTGCAGCTTGGGGCTGCCTTC 0.488000 45 41 2.51966e-14 3.71027e-14 0.003610 1 0 LRP1B 53353 broad.mit.edu 37 2 140992400 140992400 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:140992400C>T ENST00000389484.3 - 90 14585 c.13614G>A c.(13612-13614)ccG>ccA p.P4538P NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4538 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.P4538P(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ggtagatgggcggcgctgtgt 0.418000 TSP Lung(27;0.18) 14 39 0 0 0.004990 0 0 UVSSA 57654 broad.mit.edu 37 4 1346874 1346874 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr4:1346874C>T ENST00000389851.4 + 5 1054 c.607C>T c.(607-609)Ctg>Ttg p.L203L UVSSA_ENST00000511216.1_Silent_p.L203L|UVSSA_ENST00000507531.1_Silent_p.L203L NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 203 CTTTAGGCTGCTGGTGCCTTT 0.567000 20 35 0 0 0.007413 0 0 PAPPA 5069 broad.mit.edu 37 9 119065114 119065114 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr9:119065114G>A ENST00000328252.3 + 10 3401 c.3032G>A c.(3031-3033)tGt>tAt p.C1011Y PAPPA_ENST00000534838.1_Missense_Mutation_p.C49Y|RP11-45A16.4_ENST00000451100.1_RNA NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1011 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 ATTAAGGACTGTGGTGTCTAC 0.488000 4 24 0 0 0.009096 0 0 SLC39A12 221074 broad.mit.edu 37 10 18292274 18292274 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr10:18292274C>T ENST00000377369.2 + 12 2207 c.1934C>T c.(1933-1935)tCc>tTc p.S645F SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S511F|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S644F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S608F NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 645 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 TTATATTTATCCTTGGTTGAA 0.368000 30 64 0 0 0.008361 0 0 GTF2E1 2960 broad.mit.edu 37 3 120500000 120500000 + Missense_Mutation SNP G G C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr3:120500000G>C ENST00000283875.5 + 5 1096 c.1003G>C c.(1003-1005)Gcc>Ccc p.A335P NM_005513.2 NP_005504.2 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, alpha 56kDa 335 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1) 22 GBM - Glioblastoma multiforme(114;0.159) GACTTCCTCTGCCATGGCTGG 0.557000 8 24 0 0 0.003080 0 0 SRGAP2-AS1 100873165 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:121116645delT ENST00000437515.1 - 0 329 CAAGCCCCCCTTTAAAAAAAA 0.393 7 62 --- --- --- --- XRCC2 7516 broad.mit.edu 37 7 152346220 152346220 + Frame_Shift_Del DEL A A - TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr7:152346220delA ENST00000359321.1 - 3 435 c.350delT c.(349-351)tgfs p.L117fs XRCC2_ENST00000495707.1_5'UTR NM_005431.1 NP_005422.1 O43543 XRCC2_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 2 117 meiosis nucleus ATP binding|DNA binding|DNA-dependent ATPase activity p.V118fs*5(1) NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2) 11 all_hematologic(28;0.0592)|Prostate(32;0.081) OV - Ovarian serous cystadenocarcinoma(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (81;0.0429) GCAGTACACCAAAAAAAATCT 0.393 Homologous recombination 7 51 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110455991 110455991 + Frame_Shift_Del DEL A A - TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:110455991delA ENST00000378402.5 + 37 4755 c.4651delA c.(4651-4653)aafs p.K1551fs NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1551 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) TACCAGGGTTAAAAATTCAAA 0.408 HNSCC(38;0.096) 11 47 --- --- --- --- SLC6A15 55117 broad.mit.edu 37 12 85257375 85257375 + Frame_Shift_Del DEL A A - TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:85257375delA ENST00000266682.5 - 11 2202 c.1661delT c.(1660-1662)agfs p.M554fs SLC6A15_ENST00000552192.1_Frame_Shift_Del_p.M447fs|SLC6A15_ENST00000309283.7_Frame_Shift_Del_p.M262fs NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 554 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 TAGGTCTTCCATAAACCTGAA 0.289 7 37 --- --- --- --- SYNM 23336 broad.mit.edu 37 15 99672890 99672890 + Frame_Shift_Del DEL C C - TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr15:99672890delC ENST00000336292.6 + 5 4442 c.4322delC c.(4321-4323)gafs p.A1441fs SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron NM_145728.2 NP_663780.2 O15061 SYNEM_HUMAN synemin, intermediate filament protein 1442 Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 GGCAAGTTAGCAGACAGCAGC 0.532 124 151 --- --- --- --- SMG1P5 595101 broad.mit.edu 37 16 30346498 30346498 + RNA DEL G G - TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr16:30346498delG ENST00000411546.3 - 0 197 NR_002453.4 ggcggagggcgggggaagagg 0.756 2 4 --- --- --- --- FASN 2194 broad.mit.edu 37 17 80037035 80037035 + Frame_Shift_Del DEL C C - TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr17:80037035delC ENST00000306749.2 - 43 7738 c.7520delG c.(7519-7521)acfs p.S2507fs NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 2507 Thioesterase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CTCCCGCACGCTCACGCGTGG 0.692 8 40 --- --- --- --- ZNF880 400713 broad.mit.edu 37 19 52877716 52877717 + Frame_Shift_Ins INS - - T rs77187934 TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:52877716_52877717insT ENST00000597976.1 + 3 324_325 c.304_305insT c.(304-306)tttfs p.F102fs ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000422689.2_Intron Q6PDB4 ZN880_HUMAN zinc finger protein 880 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 AGGCCCCATAAttttttttttt 0.475 3 5 --- --- --- --- XKR7 343702 broad.mit.edu 37 20 30584492 30584492 + Frame_Shift_Del DEL C C - TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr20:30584492delC ENST00000217299.3 + 3 1146 c.972delC c.(970-972)tafs p.Y324fs NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 324 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CCAGCGTCTACAAGCTCTATT 0.617 12 39 --- --- --- --- SLC35A2 7355 broad.mit.edu 37 X 48768836 48768836 + Frame_Shift_Del DEL C C - TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:48768836delC ENST00000376521.1 - 1 399 c.78delG c.(76-78)ggfs p.G26fs SLC35A2_ENST00000376512.1_Frame_Shift_Del_p.G26fs|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000413561.2_Frame_Shift_Del_p.G26fs|SLC35A2_ENST00000247138.5_Frame_Shift_Del_p.G26fs|SLC35A2_ENST00000376529.3_Frame_Shift_Del_p.G26fs|SLC35A2_ENST00000445167.2_Frame_Shift_Del_p.G26fs|SLC35A2_ENST00000452555.2_Frame_Shift_Del_p.G26fs NM_001042498.2 NP_001035963.1 P78381 S35A2_HUMAN solute carrier family 35 (UDP-galactose transporter), member A2 26 galactose metabolic process Golgi membrane|integral to membrane|nucleus sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2) 15 CACTGGCGGTCCCCGGCTCCA 0.692 2 4 --- --- --- --- PLXNB3 5365 broad.mit.edu 37 X 153040429 153040429 + Frame_Shift_Del DEL C C - TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:153040429delC ENST00000538966.1 + 25 4366 c.4095delC c.(4093-4095)ttfs p.F1365fs PLXNB3_ENST00000538776.1_Frame_Shift_Del_p.F995fs|PLXNB3_ENST00000538282.1_Frame_Shift_Del_p.P977fs|PLXNB3_ENST00000361971.5_Frame_Shift_Del_p.F1342fs NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 1342 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GCGCCTTCTTCCCTGGCCATG 0.692 19 54 --- --- --- ---