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 SYCP2 10388 broad.mit.edu 37 20 58471566 58471566 + Missense_Mutation SNP T T A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr20:58471566T>A ENST00000357552.3 - 19 1647 c.1422A>T c.(1420-1422)aaA>aaT p.K474N SYCP2_ENST00000371001.2_Missense_Mutation_p.K474N Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 474 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding p.K474N(1) NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) ACATTTTTCTTTTGCTAGGAG 0.318000 7 38 0 0 0.003080 0 0 CNOT1 23019 broad.mit.edu 37 16 58583721 58583721 + Missense_Mutation SNP C C G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr16:58583721C>G ENST00000317147.5 - 25 3756 c.3424G>C c.(3424-3426)Gag>Cag p.E1142Q CNOT1_ENST00000245138.4_Missense_Mutation_p.E32Q|CNOT1_ENST00000441024.2_Missense_Mutation_p.E1142Q|CNOT1_ENST00000569240.1_Missense_Mutation_p.E1137Q NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1142 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) AAGTTTGGCTCAATACTGACT 0.393000 6 87 0 0 0.001984 0 0 GRM2 2912 broad.mit.edu 37 3 51743211 51743211 + Missense_Mutation SNP G G A rs144180122 by1000genomes TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr3:51743211G>A ENST00000395052.3 + 2 446 c.212G>A c.(211-213)cGc>cAc p.R71H GRM2_ENST00000442933.2_Missense_Mutation_p.R71H|GRM2_ENST00000475478.1_Intron NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 71 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GCACTGGACCGCATCAACCGT 0.632000 8 89 0 0 0.004482 0 0 SLC6A6 6533 broad.mit.edu 37 3 14526472 14526472 + Missense_Mutation SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr3:14526472C>T ENST00000454876.2 + 15 2149 c.1820C>T c.(1819-1821)gCt>gTt p.A607V SLC6A6_ENST00000360861.3_Missense_Mutation_p.A607V P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 607 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 ATGAACGGCGCTCTCGTGAAA 0.577000 3 22 0 0 0.004672 0 0 KDM3B 51780 broad.mit.edu 37 5 137727180 137727180 + Missense_Mutation SNP A A G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr5:137727180A>G ENST00000314358.5 + 8 2059 c.1859A>G c.(1858-1860)aAt>aGt p.N620S KDM3B_ENST00000394866.1_Missense_Mutation_p.N276S|KDM3B_ENST00000542866.1_Intron NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 620 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 AATCATGAAAATCTATTTTTA 0.507000 13 104 0 0 0.001855 0 0 THAP2 83591 broad.mit.edu 37 12 72070612 72070612 + Silent SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr12:72070612G>A ENST00000308086.2 + 3 1912 c.411G>A c.(409-411)agG>agA p.R137R RP11-293I14.2_ENST00000548802.1_Intron NM_031435.3 NP_113623.1 Q9H0W7 THAP2_HUMAN THAP domain containing, apoptosis associated protein 2 137 nucleolus DNA binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 10 CAAAAAAGAGGATCATTAAAC 0.383000 6 65 0 0 0.001168 0 0 SESN3 143686 broad.mit.edu 37 11 94911920 94911920 + Missense_Mutation SNP T T G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr11:94911920T>G ENST00000536441.1 - 7 1346 c.1010A>C c.(1009-1011)gAc>gCc p.D337A RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.D198A|RP11-712B9.2_ENST00000534864.1_RNA NM_001271594.1|NM_144665.2 NP_001258523.1|NP_653266.2 P58005 SESN3_HUMAN sestrin 3 337 cell cycle arrest nucleus endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1) 16 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) TCTGGCAAAGTCTTCATACCC 0.363000 7 46 0 0 0.001984 0 0 LDLRAD4 753 broad.mit.edu 37 18 13645527 13645527 + Silent SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr18:13645527C>T ENST00000361205.4 + 7 1460 c.792C>T c.(790-792)ggC>ggT p.G264G LDLRAD4_ENST00000359446.5_Silent_p.G264G|LDLRAD4_ENST00000586765.1_Silent_p.G209G|LDLRAD4_ENST00000399848.3_Silent_p.G246G|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000587757.1_Silent_p.G227G|LDLRAD4_ENST00000592991.1_Silent_p.G166G|LDLRAD4_ENST00000585931.1_Silent_p.G187G NM_001276249.1|NM_181481.3 NP_001263178.1|NP_852146.1 low density lipoprotein receptor class A domain containing 4 ACCACCCAGGCGCCTCTTTCC 0.597000 9 60 0 0 0.006214 0 0 LRBA 987 broad.mit.edu 37 4 151509256 151509256 + Missense_Mutation SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr4:151509256C>T ENST00000535741.1 - 40 6747 c.6274G>A c.(6274-6276)Gaa>Aaa p.E2092K LRBA_ENST00000507224.1_Missense_Mutation_p.E2092K|LRBA_ENST00000510413.1_Missense_Mutation_p.E2092K|LRBA_ENST00000357115.3_Missense_Mutation_p.E2103K P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2103 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) AAATAGAGTTCGGAGGAGGTG 0.463000 10 91 0 0 0.000673 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751490 140751490 + Missense_Mutation SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr5:140751490G>A ENST00000576222.1 + 1 1660 c.1529G>A c.(1528-1530)cGg>cAg p.R510Q PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGAGCGCGCGGAGCGGGGTG 0.667000 10 50 0 0 0.006214 0 0 TOMM34 10953 broad.mit.edu 37 20 43585027 43585027 + Splice_Site SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr20:43585027G>A ENST00000372813.3 - 2 379 c.227_splice c.e2+1 p.S76_splice PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron NM_006809.4 NP_006800.2 Q15785 TOM34_HUMAN translocase of outer mitochondrial membrane 34 76 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane heat shock protein binding|signal sequence binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 11 Myeloproliferative disorder(115;0.0122) GGCCACTTACGAAGTGCAATC 0.468000 14 203 0 0 0.004990 0 0 DNAH8 1769 broad.mit.edu 37 6 38840791 38840791 + Silent SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr6:38840791C>T ENST00000359357.3 + 49 6950 c.6696C>T c.(6694-6696)cgC>cgT p.R2232R DNAH8_ENST00000449981.2_Silent_p.R2449R|DNAH8_ENST00000441566.1_Silent_p.R2196R dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ATGGAGATCGCATTCCCATGG 0.443000 12 82 0 0 0.001855 0 0 TTF2 8458 broad.mit.edu 37 1 117624536 117624536 + Nonsense_Mutation SNP A A T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr1:117624536A>T ENST00000369466.3 + 10 1914 c.1870A>T c.(1870-1872)Aaa>Taa p.K624* NM_003594.3 NP_003585.3 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase II 624 Helicase ATP-binding. mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) AGAAAAGGAGAAAAGCACAGC 0.453000 5 53 0 0 0.000602 0 0 CCDC180 100499483 broad.mit.edu 37 9 100127991 100127991 + Missense_Mutation SNP G G T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr9:100127991G>T ENST00000375202.2 + 44 5501 c.4149G>T c.(4147-4149)gaG>gaT p.E1383D CCDC180_ENST00000529487.1_Missense_Mutation_p.E1383D|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.E1328D|CCDC180_ENST00000395220.1_3'UTR coiled-coil domain containing 180 TCCTCTGGGAGAGCAGTGAGA 0.562000 16 54 1.99824e-07 2.96797e-07 0.004990 1 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 7 40 0 0 0.006214 0 0 OR4C16 219428 broad.mit.edu 37 11 55339695 55339695 + Missense_Mutation SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr11:55339695G>A ENST00000314634.3 + 1 92 c.92G>A c.(91-93)cGt>cAt p.R31H NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R31H(2)|p.R31L(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) ATTTTTTTGCGTCTCTACTTG 0.368000 7 89 0 0 0.001984 0 0 EFTUD1 79631 broad.mit.edu 37 15 82444535 82444535 + Nonsense_Mutation SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr15:82444535G>A ENST00000268206.7 - 18 2428 c.2260C>T c.(2260-2262)Cga>Tga p.R754* EFTUD1_ENST00000359445.3_Nonsense_Mutation_p.R703* NM_024580.5 NP_078856.4 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain containing 1 754 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 GGCATGGCTCGAACACTGAGC 0.438000 7 75 0 0 0.003080 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559510 44559510 + Missense_Mutation SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr18:44559510C>T ENST00000332567.4 - 1 2478 c.2126G>A c.(2125-2127)cGg>cAg p.R709Q KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 709 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GGGGTTGGCCCGCTTCTCAGG 0.672000 5 62 0 0 0.000602 0 0 SCML1 6322 broad.mit.edu 37 X 17768243 17768243 + Missense_Mutation SNP C C G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chrX:17768243C>G ENST00000380043.3 + 5 780 c.452C>G c.(451-453)aCt>aGt p.T151S SCML1_ENST00000380041.3_Missense_Mutation_p.T178S|SCML1_ENST00000380045.3_Missense_Mutation_p.T57S|SCML1_ENST00000398080.1_Missense_Mutation_p.T57S NM_006746.4 NP_006737.2 Q9UN30 SCML1_HUMAN sex comb on midleg-like 1 (Drosophila) 178 anatomical structure morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1) 10 Hepatocellular(33;0.183) CTCAGCCGCACTCCGAGTCCA 0.522000 16 71 0 0 0.003163 0 0 WDR74 54663 broad.mit.edu 37 11 62606655 62606655 + Missense_Mutation SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr11:62606655C>T ENST00000525239.1 - 4 761 c.224G>A c.(223-225)gGc>gAc p.G75D WDR74_ENST00000311713.7_Missense_Mutation_p.G75D|WDR74_ENST00000525752.1_Missense_Mutation_p.G18D|WDR74_ENST00000540620.1_5'UTR|WDR74_ENST00000529106.1_Missense_Mutation_p.G75D|WDR74_ENST00000278856.4_Missense_Mutation_p.G75D Q6RFH5 WDR74_HUMAN WD repeat domain 74 75 nucleolus kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1) 8 CTGGAATATGCCATCCTCGGT 0.652000 4 46 0 0 0.000248 0 0 ZFHX3 463 broad.mit.edu 37 16 72828433 72828433 + Silent SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr16:72828433G>A ENST00000268489.5 - 9 8820 c.8148C>T c.(8146-8148)tgC>tgT p.C2716C ZFHX3_ENST00000397992.5_Silent_p.C1802C NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2716 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.C2716>?(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AGAGCGCTCTGCAAAAAGGGC 0.562000 17 65 0 0 0.004007 0 0 C10orf107 219621 broad.mit.edu 37 10 63450358 63450358 + Silent SNP A A G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr10:63450358A>G ENST00000330194.2 + 4 572 c.267A>G c.(265-267)gaA>gaG p.E89E NM_173554.2 NP_775825.1 Q8IVU9 CJ107_HUMAN chromosome 10 open reading frame 107 89 breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1) 8 Prostate(12;0.016) CTGCCAGGGAAGAAATTGTGA 0.343000 7 46 0 0 0.003080 0 0 C22orf42 150297 broad.mit.edu 37 22 32548591 32548591 + Silent SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr22:32548591C>T ENST00000382097.3 - 3 402 c.330G>A c.(328-330)gcG>gcA p.A110A NM_001010859.1 NP_001010859.1 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 110 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 24 CGTGTGCAGACGCCTGCACAT 0.493000 6 46 0 0 0.001984 0 0 ST8SIA1 6489 broad.mit.edu 37 12 22408274 22408274 + Missense_Mutation SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr12:22408274C>T ENST00000396037.4 - 3 912 c.431G>A c.(430-432)gGt>gAt p.G144D ST8SIA1_ENST00000539510.1_Intron NM_003034.3 NP_003025.1 Q92185 SIA8A_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 144 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 CAGAATCCCACCATTTCCCAC 0.517000 10 100 0 0 0.001368 0 0 SMOC1 64093 broad.mit.edu 37 14 70444647 70444647 + Missense_Mutation SNP A A G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr14:70444647A>G ENST00000381280.4 + 5 744 c.491A>G c.(490-492)gAc>gGc p.D164G SMOC1_ENST00000361956.3_Missense_Mutation_p.D164G NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 164 cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) TCAGTCACCGACAAGCCCTTG 0.433000 6 56 0 0 0.001984 0 0 HTR1A 3350 broad.mit.edu 37 5 63256816 63256816 + Missense_Mutation SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr5:63256816G>A ENST00000323865.3 - 1 964 c.731C>T c.(730-732)gCa>gTa p.A244V RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 244 A -> AA (in Ref. 8). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GGCGGGAGATGCTCCATGGCG 0.632000 8 56 0 0 0.006214 0 0 LPHN1 22859 broad.mit.edu 37 19 14268749 14268749 + Missense_Mutation SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr19:14268749G>A ENST00000340736.6 - 14 2792 c.2495C>T c.(2494-2496)aCg>aTg p.T832M CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.T827M|CTB-55O6.12_ENST00000592086.1_RNA NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 832 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GCAGGCACACGTGGTATGGGT 0.597000 5 61 0 0 0.000602 0 0 BAIAP3 8938 broad.mit.edu 37 16 1397985 1397985 + Missense_Mutation SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr16:1397985C>T ENST00000324385.5 + 32 3379 c.3221C>T c.(3220-3222)aCg>aTg p.T1074M BAIAP3_ENST00000568887.1_Missense_Mutation_p.T1011M|BAIAP3_ENST00000421665.2_Missense_Mutation_p.T1003M|BAIAP3_ENST00000397489.1_Missense_Mutation_p.T1056M|BAIAP3_ENST00000562208.1_Missense_Mutation_p.T1016M|BAIAP3_ENST00000397488.2_Missense_Mutation_p.T1056M|BAIAP3_ENST00000426824.3_Missense_Mutation_p.T1039M NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 1074 C2 2. G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) AAGACCCGGACGCTGCACCCT 0.632000 11 74 0 0 0.000978 0 0 LEPREL4 10609 broad.mit.edu 37 17 39967445 39967445 + Missense_Mutation SNP T T C TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr17:39967445T>C ENST00000355468.3 - 3 1020 c.554A>G c.(553-555)tAt>tGt p.Y185C LEPREL4_ENST00000393928.1_Missense_Mutation_p.Y185C Q92791 SC65_HUMAN leprecan-like 4 185 synaptonemal complex assembly nucleolus|synaptonemal complex binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 CATCCCCTGATAGTAGTTGAG 0.647000 27 233 0 0 0.001786 0 0 KIF3B 9371 broad.mit.edu 37 20 30897727 30897727 + Silent SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr20:30897727G>A ENST00000375712.3 + 2 314 c.147G>A c.(145-147)acG>acA p.T49T NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 49 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCAAAGGGACGGCCCATGAAA 0.512000 5 52 0 0 0.001168 0 0 VARS2 57176 broad.mit.edu 37 6 30888896 30888896 + Nonsense_Mutation SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr6:30888896C>T ENST00000321897.5 + 15 2166 c.1534C>T c.(1534-1536)Cag>Tag p.Q512* VARS2_ENST00000416670.2_Nonsense_Mutation_p.Q512*|VARS2_ENST00000542001.1_Nonsense_Mutation_p.Q372*|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000541562.1_Nonsense_Mutation_p.Q542* Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 512 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 GAAGAACTGGCAGCACTGGTT 0.557000 6 45 0 0 0.001984 0 0 CCDC181 57821 broad.mit.edu 37 1 169390949 169390949 + Silent SNP A A C TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr1:169390949A>C ENST00000545005.1 - 4 1227 c.720T>G c.(718-720)ccT>ccG p.P240P CCDC181_ENST00000367806.3_Silent_p.P240P|CCDC181_ENST00000367805.3_Silent_p.P240P|CCDC181_ENST00000491570.1_5'UTR coiled-coil domain containing 181 TATTAATGGGAGGCAAAAACC 0.408000 17 109 0 0 0.004007 0 0 FAM49B 51571 broad.mit.edu 37 8 130874554 130874554 + Missense_Mutation SNP C C G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr8:130874554C>G ENST00000519824.2 - 5 495 c.222G>C c.(220-222)aaG>aaC p.K74N FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000401979.2_Missense_Mutation_p.K74N|FAM49B_ENST00000519540.1_Missense_Mutation_p.K74N|FAM49B_ENST00000522941.1_Intron|FAM49B_ENST00000518879.1_5'UTR|FAM49B_ENST00000517654.1_Missense_Mutation_p.K74N|FAM49B_ENST00000522746.1_Missense_Mutation_p.K74N|FAM49B_ENST00000519110.1_Missense_Mutation_p.K74N|FAM49B_ENST00000523509.1_Missense_Mutation_p.K74N NM_016623.4 NP_057707.3 Q9NUQ9 FA49B_HUMAN family with sequence similarity 49, member B 74 kidney(1)|large_intestine(6)|lung(4)|prostate(1) 12 Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155) LUAD - Lung adenocarcinoma(14;0.0989) TCTCTTGCAACTTCTCATCTG 0.328000 8 87 0 0 0.006214 0 0 TRIM27 5987 broad.mit.edu 37 6 28871857 28871857 + Missense_Mutation SNP G G C TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr6:28871857G>C ENST00000377199.3 - 8 1888 c.1532C>G c.(1531-1533)aCc>aGc p.T511S TRIM27_ENST00000377194.3_3'UTR NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 511 cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 TCAAGGGGAGGTCTCCATGGA 0.537000 T RET papillary thyroid 9 60 0 0 0.004482 0 0 SYT9 143425 broad.mit.edu 37 11 7439283 7439283 + Missense_Mutation SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr11:7439283G>A ENST00000318881.6 + 5 1498 c.1261G>A c.(1261-1263)Gaa>Aaa p.E421K NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 421 C2 2. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.E421K(1) NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) TGTTTACAACGAAGCCATAGT 0.468000 6 61 0 0 0.001984 0 0 UFL1 23376 broad.mit.edu 37 6 96971059 96971059 + Silent SNP T T C TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr6:96971059T>C ENST00000369278.4 + 2 181 c.115T>C c.(115-117)Ttg>Ctg p.L39L NM_015323.4 NP_056138.1 O94874 UFL1_HUMAN UFM1-specific ligase 1 39 Required for E3 UFM1-protein ligase activity. negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity TGTTAATAAATTGATTGCTCA 0.368000 5 88 0 0 0.000602 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072504 17072504 + Missense_Mutation SNP C C G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr22:17072504C>G ENST00000359963.3 - 1 1196 c.937G>C c.(937-939)Gtg>Ctg p.V313L NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 313 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.V313M(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TGAATCACCACGATGCCATAC 0.557000 14 132 0 0 0.004007 0 0 SRGAP2 23380 broad.mit.edu 37 1 206628236 206628236 + Silent SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr1:206628236C>T ENST00000414007.1 + 17 1953 c.1953C>T c.(1951-1953)gtC>gtT p.V651V SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_Silent_p.V96V O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 791 Rho-GAP. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) AGGACGGTGTCGTGGAGAGGT 0.597000 4 34 0 0 0.000602 0 0 SLC38A9 153129 broad.mit.edu 37 5 54922346 54922346 + Missense_Mutation SNP G G T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr5:54922346G>T ENST00000396865.2 - 16 2253 c.1662C>A c.(1660-1662)aaC>aaA p.N554K SLC38A9_ENST00000416547.2_Missense_Mutation_p.N430K|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000515629.1_Missense_Mutation_p.N491K|SLC38A9_ENST00000318672.3_Missense_Mutation_p.N554K|SLC38A9_ENST00000512595.1_Missense_Mutation_p.N491K NM_173514.3 NP_775785.2 Q8NBW4 S38A9_HUMAN solute carrier family 38, member 9 554 amino acid transport|sodium ion transport integral to membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 8 Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181) GAACAATCAGGTTAGCCACGC 0.368000 12 86 0.000978159 0.00133505 0.000978 1 0 SLC44A4 80736 broad.mit.edu 37 6 31832499 31832499 + Silent SNP C C A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr6:31832499C>A ENST00000544672.1 - 20 2009 c.1713G>T c.(1711-1713)ggG>ggT p.G571G SLC44A4_ENST00000229729.6_Silent_p.G647G|SLC44A4_ENST00000375562.4_Silent_p.G605G NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 647 integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) TGACATAGGCCCCCAGGATGG 0.597000 7 79 8.12818e-05 0.000115626 0.001984 1 0 PCDH11X 27328 broad.mit.edu 37 X 91132437 91132437 + Missense_Mutation SNP A A G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chrX:91132437A>G ENST00000373094.1 + 2 2043 c.1198A>G c.(1198-1200)Aca>Gca p.T400A PCDH11X_ENST00000373097.1_Missense_Mutation_p.T400A|PCDH11X_ENST00000504220.1_Missense_Mutation_p.T400A|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T400A|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T400A|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T400A|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T400A|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T400A|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T400A NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 400 Cadherin 4. homophilic cell adhesion integral to plasma membrane calcium ion binding 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 GACATGCTTCACAGATCATGA 0.418000 9 121 0 0 0.006214 0 0 DDX4 54514 broad.mit.edu 37 5 55110956 55110956 + Missense_Mutation SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr5:55110956C>T ENST00000505374.1 + 20 2035 c.1943C>T c.(1942-1944)tCg>tTg p.S648L DDX4_ENST00000511853.1_Missense_Mutation_p.S499L|DDX4_ENST00000353507.5_Missense_Mutation_p.S614L|DDX4_ENST00000354991.5_Missense_Mutation_p.S614L|DDX4_ENST00000514278.2_Missense_Mutation_p.S628L NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 648 Helicase C-terminal. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) GATCTTGAATCGGATAACCAT 0.358000 6 104 0 0 0.001168 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887574 12887574 + Missense_Mutation SNP C C G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr1:12887574C>G ENST00000535591.1 - 3 478 c.283G>C c.(283-285)Gtg>Ctg p.V95L NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 95 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 CAGTCCTGCACTGGTGTTTTG 0.498000 11 236 0 0 0.002450 0 0 BRWD3 254065 broad.mit.edu 37 X 79932674 79932674 + Missense_Mutation SNP A A G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chrX:79932674A>G ENST00000373275.4 - 41 5059 c.4843T>C c.(4843-4845)Tct>Cct p.S1615P NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1615 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 GTACTTTCAGAACTTAAACTG 0.373000 5 136 0 0 0.000602 0 0 KMT2D 8085 broad.mit.edu 37 12 49445626 49445626 + Nonsense_Mutation SNP C C A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr12:49445626C>A ENST00000301067.7 - 10 1839 c.1840G>T c.(1840-1842)Gag>Tag p.E614* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AGGGGAGACTCCTCAGGTGGA 0.602000 9 49 2.17888e-05 3.18937e-05 0.006214 1 0 FAM193B 54540 broad.mit.edu 37 5 176951739 176951739 + Silent SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr5:176951739G>A ENST00000329540.5 - 9 3450 c.621C>T c.(619-621)aaC>aaT p.N207N FAM193B_ENST00000514747.1_Silent_p.N581N|FAM193B_ENST00000443375.2_Silent_p.N548N Q6IPW0 Q6IPW0_HUMAN family with sequence similarity 193, member B 257 kidney(1)|large_intestine(3) 4 TCACGAGCCCGTTCTCGGGGA 0.652000 4 8 0 0 0.000248 0 0 FLG 2312 broad.mit.edu 37 1 152280551 152280551 + Missense_Mutation SNP C C A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr1:152280551C>A ENST00000368799.1 - 3 6846 c.6811G>T c.(6811-6813)Gct>Tct p.A2271S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2271 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCTCCTGAGCAGATCCATGA 0.582000 Ichthyosis 25 264 5.45024e-15 8.21603e-15 0.003330 1 0 GPR112 139378 broad.mit.edu 37 X 135405364 135405364 + Missense_Mutation SNP T T A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chrX:135405364T>A ENST00000394143.1 + 5 789 c.498T>A c.(496-498)aaT>aaA p.N166K GPR112_ENST00000370652.1_Missense_Mutation_p.N166K|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000287534.4_Missense_Mutation_p.N103K NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 166 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TTCTCAAGAATGAGAGCAGCG 0.448000 7 129 0 0 0.003080 0 0 PAX5 5079 broad.mit.edu 37 9 37015073 37015073 + Missense_Mutation SNP C C A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr9:37015073C>A ENST00000358127.4 - 3 405 c.331G>T c.(331-333)Gcc>Tcc p.A111S PAX5_ENST00000377847.2_Missense_Mutation_p.A111S|PAX5_ENST00000520154.1_Missense_Mutation_p.A111S|PAX5_ENST00000377853.2_Missense_Mutation_p.A111S|PAX5_ENST00000523241.1_Missense_Mutation_p.A111S|PAX5_ENST00000377852.2_Missense_Mutation_p.A111S|PAX5_ENST00000520281.1_Missense_Mutation_p.A111S|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.A111S|PAX5_ENST00000522003.1_Missense_Mutation_p.A3S|PAX5_ENST00000523145.1_Missense_Mutation_p.A3S NM_016734.1 NP_057953.1 Q02548 PAX5_HUMAN paired box 5 111 Paired. cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(42) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) ATCTCCCAGGCAAACATGGTG 0.547000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 8 179 0.00448238 0.00603627 0.004482 1 0 FMN2 56776 broad.mit.edu 37 1 240371580 240371580 + Silent SNP A A C TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr1:240371580A>C ENST00000319653.9 + 5 3698 c.3468A>C c.(3466-3468)ccA>ccC p.P1156P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1156 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CTCCGCCCCCACTTCCCGGAG 0.706000 3 7 0 0 0.004672 0 0 HEY2 23493 broad.mit.edu 37 6 126080842 126080842 + Missense_Mutation SNP T T G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr6:126080842T>G ENST00000368364.3 + 5 1105 c.908T>G c.(907-909)aTc>aGc p.I303S HEY2_ENST00000368365.1_Missense_Mutation_p.I257S NM_012259.2 NP_036391.1 Q9UBP5 HEY2_HUMAN hes-related family bHLH transcription factor with YRPW motif 2 303 negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1)|large_intestine(7)|lung(5)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) GCCACAGCCATCAGCCCGCCC 0.622000 10 106 0 0 0.000673 0 0 PLK1 5347 broad.mit.edu 37 16 23695252 23695252 + Missense_Mutation SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr16:23695252G>A ENST00000300093.4 + 5 989 c.878G>A c.(877-879)cGc>cAc p.R293H NM_005030.3 NP_005021.2 P53350 PLK1_HUMAN polo-like kinase 1 293 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(48;0.0156) CCCACTGCCCGCCCAACCATT 0.547000 12 250 0 0 0.001855 0 0 SLC28A1 9154 broad.mit.edu 37 15 85447424 85447424 + Silent SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr15:85447424C>T ENST00000394573.1 + 7 760 c.558C>T c.(556-558)tgC>tgT p.C186C SLC28A1_ENST00000537216.1_Silent_p.C186C|SLC28A1_ENST00000286749.3_Silent_p.C186C|SLC28A1_ENST00000537624.1_Silent_p.C186C|SLC28A1_ENST00000537703.1_Silent_p.C108C|SLC28A1_ENST00000538177.1_Silent_p.C186C NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 186 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) CAGGAATCTGCGTGTTCGTCG 0.597000 5 87 0 0 0.001168 0 0 TAF6 6878 broad.mit.edu 37 7 99707619 99707619 + Silent SNP C C T TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr7:99707619C>T ENST00000344095.4 - 12 1761 c.1236G>A c.(1234-1236)ctG>ctA p.L412L TAF6_ENST00000452041.1_Silent_p.L412L|TAF6_ENST00000472509.1_Silent_p.L469L|TAF6_ENST00000437822.2_Silent_p.L449L|TAF6_ENST00000418432.2_Silent_p.L336L|TAF6_ENST00000453269.2_Silent_p.L412L|AP4M1_ENST00000421755.1_Intron NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 412 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAATGTTGCTCAGCACAGGGC 0.582000 8 73 0 0 0.004482 0 0 SLC4A4 8671 broad.mit.edu 37 4 72412192 72412192 + Silent SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr4:72412192G>A ENST00000340595.3 + 16 2632 c.2436G>A c.(2434-2436)aaG>aaA p.K812K SLC4A4_ENST00000264485.5_Silent_p.K856K|SLC4A4_ENST00000425175.1_Silent_p.K856K|SLC4A4_ENST00000351898.6_Intron NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 856 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) ACAGTTTGAAGATGGAGACAG 0.483000 6 46 0 0 0.001168 0 0 KIF5A 3798 broad.mit.edu 37 12 57958726 57958726 + Silent SNP C C T rs143178113 TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr12:57958726C>T ENST00000455537.2 + 6 745 c.471C>T c.(469-471)caC>caT p.H157H KIF5A_ENST00000286452.5_Silent_p.H68H NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 157 Kinesin-motor. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity p.H157H(1) 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 TGTCCGTGCACGAGGACAAGA 0.532000 6 33 0 0 0.004482 0 0 PCSK1 5122 broad.mit.edu 37 5 95746485 95746485 + Missense_Mutation SNP T T A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr5:95746485T>A ENST00000311106.3 - 8 1325 c.1088A>T c.(1087-1089)cAg>cTg p.Q363L PCSK1_ENST00000513085.1_Intron|PCSK1_ENST00000508626.1_Missense_Mutation_p.Q316L|CTD-2337A12.1_ENST00000502645.2_RNA NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 363 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TACGATTCTCTGGTCGGTGTA 0.512000 10 80 0 0 0.000673 0 0 ZNF540 163255 broad.mit.edu 37 19 38102814 38102814 + Silent SNP T T C TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr19:38102814T>C ENST00000592533.1 + 5 965 c.633T>C c.(631-633)ggT>ggC p.G211G ZNF540_ENST00000316433.4_Silent_p.G211G|ZNF540_ENST00000589117.1_Silent_p.G179G|ZNF540_ENST00000343599.5_Silent_p.G211G NM_152606.4 NP_689819.1 zinc finger protein 540 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1) 28 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTCATACTGGTGAAAAATCCT 0.338000 3 50 0 0 0.000248 0 0 HIST1H2BM 8342 broad.mit.edu 37 6 27783137 27783137 + Missense_Mutation SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr6:27783137G>A ENST00000359465.4 + 1 316 c.316G>A c.(316-318)Gaa>Aaa p.E106K NM_003521.2 NP_003512.1 Q99879 H2B1M_HUMAN histone cluster 1, H2bm 106 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2) 12 GCTACCCGGGGAATTGGCCAA 0.622000 7 60 0 0 0.001984 0 0 SACS 26278 broad.mit.edu 37 13 23914846 23914846 + Missense_Mutation SNP C C G TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr13:23914846C>G ENST00000382298.3 - 10 3757 c.3169G>C c.(3169-3171)Gat>Cat p.D1057H SACS_ENST00000402364.1_Missense_Mutation_p.D307H|SACS_ENST00000382292.3_Missense_Mutation_p.D1057H NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1057 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) ACTTCTATATCAGGGTCAAAG 0.373000 5 115 0 0 0.000602 0 0 ANKRD36 375248 broad.mit.edu 37 2 97867947 97867947 + Missense_Mutation SNP C C G rs10203570 by1000genomes TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr2:97867947C>G ENST00000420699.2 + 47 3110 c.2866C>G c.(2866-2868)Cag>Gag p.Q956E ANKRD36_ENST00000461153.2_Missense_Mutation_p.Q956E NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 956 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 AGTGTCTTCTCAGAAACCACC 0.343000 2 13 0 0 0.004672 0 0 FLNA 2316 broad.mit.edu 37 X 153594747 153594747 + Missense_Mutation SNP G G A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chrX:153594747G>A ENST00000422373.1 - 8 1405 c.1157C>T c.(1156-1158)gCc>gTc p.A386V FLNA_ENST00000360319.4_Missense_Mutation_p.A386V|FLNA_ENST00000344736.4_Missense_Mutation_p.A386V|FLNA_ENST00000369850.3_Missense_Mutation_p.A386V NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 386 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGGACCTTGGGCTGTCACTTT 0.597000 7 58 0 0 0.004482 0 0 DNAH8 1769 broad.mit.edu 37 6 38816439 38816440 + Frame_Shift_Ins INS - - A TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr6:38816439_38816440insA ENST00000359357.3 + 35 4664_4665 c.4410_4411insA c.(4408-4413)ttaaaafs p.LK1470fs DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.LK1687fs|DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.LK1470fs dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ATGCTCCATTTAAAAAAAATAT 0.342 7 31 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91570433 91570435 + In_Frame_Del DEL AGA AGA - TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr7:91570433_91570435delAGA ENST00000359028.2 + 1 245_247 c.20_22delAGA c.(19-24)cag>c p.QK7del AKAP9_ENST00000356239.3_In_Frame_Del_p.QK7del|AKAP9_ENST00000358100.2_In_Frame_Del_p.QK7del|AKAP9_ENST00000394564.1_In_Frame_Del_p.QK7del Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 7 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GAGGAGAGACAGAAGAAGCTGGA 0.635 T BRAF papillary thyroid 12 108 --- --- --- --- ABCC3 8714 broad.mit.edu 37 17 48761081 48761082 + Frame_Shift_Del DEL GA GA - TCGA-IQ-7632-01A-11D-2078-08 TCGA-IQ-7632-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fcfc377-a153-401c-95b4-8a4569866096 a469cc49-769d-4e13-ad08-591a3792926e g.chr17:48761081_48761082delGA ENST00000285238.8 + 27 3998_3999 c.3918_3919delGA c.(3916-3921)ctgafs p.LR1306fs NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1306 ABC transporter 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) ACCTGGTGCTGAGAGACCTGAG 0.644 15 77 --- --- --- ---