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 MIR429 554210 broad.mit.edu 37 1 1104442 1104442 + RNA SNP G G T TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr1:1104442G>T ENST00000362106.1 + 0 58 NR_029957.1 GTCTAATACTGTCTGGTAAAA 0.627 3 36 --- --- --- --- C1QC 714 broad.mit.edu 37 1 22973820 22973820 + Silent SNP G G A TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr1:22973820G>A ENST00000374639.3 + 3 400 c.282G>A c.(280-282)ggG>ggA p.G94G C1QC_ENST00000374640.4_Silent_p.G94G|C1QC_ENST00000374637.1_Silent_p.G94G NM_001114101.1 NP_001107573.1 P02747 C1QC_HUMAN complement component 1, q subcomponent, C chain 94 Collagen-like. complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation collagen endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 15 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;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196) 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) GACCCCCTGGGATGCCAGGGG 0.627 11 40 --- --- --- --- ASAP3 55616 broad.mit.edu 37 1 23782631 23782631 + Silent SNP G G A TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr1:23782631G>A ENST00000336689.3 - 2 230 c.186C>T c.(184-186)atC>atT p.I62I ASAP3_ENST00000437606.2_Silent_p.I62I|ASAP3_ENST00000449467.2_5'UTR NM_017707.3 NP_060177.2 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 62 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 24 CGGAGCTATGGATTGCCCGCA 0.587 9 28 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181725150 181725150 + Missense_Mutation SNP C C T TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr1:181725150C>T ENST00000526775.1 + 28 4156 c.3991C>T c.(3991-3993)Cgc>Tgc p.R1331C CACNA1E_ENST00000367567.4_Missense_Mutation_p.R957C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1301C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1282C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1350C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1331C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1350C NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1350 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GGAATGGAAGCGCCATGAATT 0.493 4 38 --- --- --- --- ASPM 259266 broad.mit.edu 37 1 197111887 197111887 + Nonsense_Mutation SNP T T A TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr1:197111887T>A ENST00000367409.4 - 3 1751 c.1495A>T c.(1495-1497)Aaa>Taa p.K499* ASPM_ENST00000294732.7_Nonsense_Mutation_p.K499* NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 499 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 GCCTTCCTTTTAGTAACAGTG 0.358 5 163 --- --- --- --- TARBP1 6894 broad.mit.edu 37 1 234536985 234536985 + Missense_Mutation SNP C C T TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr1:234536985C>T ENST00000040877.1 - 25 4012 c.4013G>A c.(4012-4014)cGc>cAc p.R1338H TARBP1_ENST00000483404.1_5'UTR NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 1338 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) CTCCTGAATGCGTTGCCAATT 0.358 6 23 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 141072599 141072599 + Missense_Mutation SNP C C A TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr2:141072599C>A ENST00000389484.3 - 83 13681 c.12710G>T c.(12709-12711)tGt>tTt p.C4237F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4237 EGF-like 10. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCAACAGTGACACCTCAAATC 0.383 TSP Lung(27;0.18) 4 77 --- --- --- --- YEATS2 55689 broad.mit.edu 37 3 183490196 183490196 + Missense_Mutation SNP C C T TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr3:183490196C>T ENST00000305135.5 + 16 2246 c.2051C>T c.(2050-2052)tCc>tTc p.S684F NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 684 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCTTCTGTCTCCAAAGCAGTT 0.537 20 73 --- --- --- --- CNOT6L 246175 broad.mit.edu 37 4 78641641 78641641 + Missense_Mutation SNP G G C TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr4:78641641G>C ENST00000504123.1 - 12 1742 c.1612C>G c.(1612-1614)Ctc>Gtc p.L538V CNOT6L_ENST00000264903.4_Missense_Mutation_p.L538V Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 538 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 9 GGAGGGTGGAGTTCAAGTTGT 0.527 7 157 --- --- --- --- KIAA1109 84162 broad.mit.edu 37 4 123237982 123237982 + Silent SNP A A G TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr4:123237982A>G ENST00000264501.4 + 62 11008 c.10635A>G c.(10633-10635)gaA>gaG p.E3545E KIAA1109_ENST00000388738.3_Silent_p.E3545E|KIAA1109_ENST00000455637.1_Silent_p.E3545E Q2LD37 K1109_HUMAN KIAA1109 3545 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 ATATCAGAGAACTGAATGAAC 0.353 4 48 --- --- --- --- HIST1H3B 8358 broad.mit.edu 37 6 26031999 26031999 + Missense_Mutation SNP C C T TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr6:26031999C>T ENST00000244661.2 - 1 289 c.290G>A c.(289-291)tGt>tAt p.C97Y NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 97 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 GTAGGCCTCACAAGCCTCCTG 0.577 5 70 --- --- --- --- GSTA3 2940 broad.mit.edu 37 6 52761716 52761716 + Missense_Mutation SNP G G C TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr6:52761716G>C ENST00000211122.3 - 7 622 c.557C>G c.(556-558)aCc>aGc p.T186S GSTA3_ENST00000370968.1_Missense_Mutation_p.T136S NM_000847.4 NP_000838.3 Q16772 GSTA3_HUMAN glutathione S-transferase alpha 3 186 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2) 10 Lung NSC(77;0.0912) Glutathione(DB00143) GCTGATTCTGGTTTTCAGGGC 0.517 13 104 --- --- --- --- SNAP91 9892 broad.mit.edu 37 6 84290295 84290295 + Silent SNP A A G TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr6:84290295A>G ENST00000428679.2 - 24 2766 c.2173T>C c.(2173-2175)Ttg>Ctg p.L725L SNAP91_ENST00000520302.1_Silent_p.L695L|SNAP91_ENST00000439399.2_Silent_p.L725L|SNAP91_ENST00000195649.6_Silent_p.L720L|SNAP91_ENST00000369694.2_Silent_p.L725L|SNAP91_ENST00000437520.1_Silent_p.L418L|SNAP91_ENST00000521485.1_Silent_p.L720L|SNAP91_ENST00000521743.1_Silent_p.L725L|SNAP91_ENST00000520213.1_Silent_p.L418L O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 725 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) GTTGGCATCAAAAGATCACCT 0.433 8 46 --- --- --- --- CEP85L 387119 broad.mit.edu 37 6 118790275 118790275 + Silent SNP C C T TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr6:118790275C>T ENST00000368491.3 - 12 2835 c.2214G>A c.(2212-2214)caG>caA p.Q738Q CEP85L_ENST00000368488.5_Silent_p.Q741Q NM_001042475.2 NP_001035940.1 Q5SZL2 CF204_HUMAN centrosomal protein 85kDa-like 738 centrosome GCTCCTTGCCCTGAGCACGCT 0.368 10 64 --- --- --- --- PKD1L1 168507 broad.mit.edu 37 7 47944821 47944821 + Missense_Mutation SNP A A C TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr7:47944821A>C ENST00000289672.2 - 11 1674 c.1624T>G c.(1624-1626)Ttt>Gtt p.F542V NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 542 PKD 1. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TCCTCTCCAAAATACCACTCA 0.438 20 89 --- --- --- --- ABCA13 154664 broad.mit.edu 37 7 48315425 48315425 + Missense_Mutation SNP C C A TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr7:48315425C>A ENST00000435803.1 + 17 6186 c.6162C>A c.(6160-6162)aaC>aaA p.N2054K NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2054 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CACCTTACAACTTTGAAGAAC 0.343 4 32 --- --- --- --- COBL 23242 broad.mit.edu 37 7 51096535 51096535 + Missense_Mutation SNP G G C TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr7:51096535G>C ENST00000395542.2 - 12 2688 c.2504C>G c.(2503-2505)tCt>tGt p.S835C COBL_ENST00000265136.7_Missense_Mutation_p.S753C O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 753 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CACAGACGAAGACAGGGAAAT 0.547 18 44 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100681373 100681373 + Missense_Mutation SNP C C T rs144624588 TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr7:100681373C>T ENST00000306151.4 + 3 6740 c.6676C>T c.(6676-6678)Cct>Tct p.P2226S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2226 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.P2226T(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACAAGTATGCCTGTCAGCAC 0.502 5 636 --- --- --- --- TG 7038 broad.mit.edu 37 8 134030207 134030207 + Missense_Mutation SNP G G C TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr8:134030207G>C ENST00000220616.4 + 38 6787 c.6747G>C c.(6745-6747)ttG>ttC p.L2249F TG_ENST00000542445.1_Missense_Mutation_p.L619F|TG_ENST00000519543.1_Missense_Mutation_p.L382F|TG_ENST00000522523.1_3'UTR|TG_ENST00000377869.1_Missense_Mutation_p.L2192F NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2249 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CAGAGCCCTTGAACTGGACAG 0.552 14 30 --- --- --- --- PTPRD 5789 broad.mit.edu 37 9 8636728 8636728 + Nonsense_Mutation SNP C C A TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr9:8636728C>A ENST00000381196.4 - 10 724 c.181G>T c.(181-183)Gga>Tga p.G61* PTPRD_ENST00000486161.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.G61*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.G61*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.G61*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.G61*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.G61*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.G61*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.G61*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.G61*|PTPRD_ENST00000463477.1_Nonsense_Mutation_p.G61* NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 61 Ig-like C2-type 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ACTTTCTTTCCTTTTTTGTTC 0.453 TSP Lung(15;0.13) 12 109 --- --- --- --- CYLC2 1539 broad.mit.edu 37 9 105767017 105767017 + Missense_Mutation SNP C C A TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr9:105767017C>A ENST00000374798.3 + 4 291 c.221C>A c.(220-222)cCa>cAa p.P74Q CYLC2_ENST00000487798.1_Missense_Mutation_p.P74Q NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 74 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) CGTAGACAACCATTATGGATG 0.378 17 50 --- --- --- --- EDF1 8721 broad.mit.edu 37 9 139760662 139760662 + Missense_Mutation SNP G G T TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr9:139760662G>T ENST00000371648.4 - 1 56 c.49C>A c.(49-51)Cct>Act p.P17T EDF1_ENST00000224073.1_Missense_Mutation_p.P17T|EDF1_ENST00000371649.1_Missense_Mutation_p.P17T NM_153200.1 NP_694880.1 O60869 EDF1_HUMAN endothelial differentiation-related factor 1 17 endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent cytoplasm|nucleolus|nucleus calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity lung(1) 1 all_cancers(76;0.0841)|all_epithelial(76;0.217) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) GCGGCCGTAGGGCCCTTCTTG 0.731 5 22 --- --- --- --- DOCK1 1793 broad.mit.edu 37 10 129207655 129207655 + Splice_Site SNP G G A TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr10:129207655G>A ENST00000280333.6 + 42 4389 c.4280G>A c.(4279-4281)aGt>aAt p.S1427N NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1427 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CAGATTGTAAGGTAATAATCC 0.448 6 56 --- --- --- --- OR5A1 219982 broad.mit.edu 37 11 59210893 59210893 + Missense_Mutation SNP G G T TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr11:59210893G>T ENST00000302030.2 + 1 277 c.252G>T c.(250-252)atG>atT p.M84I NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 CTCCCAATATGCTCACTGACT 0.478 5 104 --- --- --- --- C2CD5 9847 broad.mit.edu 37 12 22637658 22637658 + Missense_Mutation SNP A A G TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr12:22637658A>G ENST00000333957.4 - 13 1778 c.1523T>C c.(1522-1524)aTt>aCt p.I508T C2CD5_ENST00000446597.1_Missense_Mutation_p.I508T|C2CD5_ENST00000545552.1_Missense_Mutation_p.I521T|C2CD5_ENST00000536386.1_Missense_Mutation_p.I510T|C2CD5_ENST00000542676.1_Missense_Mutation_p.I508T|C2CD5_ENST00000396028.2_Missense_Mutation_p.I499T|C2CD5_ENST00000544930.1_Missense_Mutation_p.I323T NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 ACCTTTTCCAATAACTGTTGC 0.383 4 109 --- --- --- --- XPO4 64328 broad.mit.edu 37 13 21373356 21373356 + Missense_Mutation SNP A A G TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr13:21373356A>G ENST00000400602.2 - 16 2305 c.2270T>C c.(2269-2271)tTa>tCa p.L757S XPO4_ENST00000255305.6_Missense_Mutation_p.L757S NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 757 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) AAAACCTCCTAAGACTAGAGC 0.438 14 364 --- --- --- --- SLITRK5 26050 broad.mit.edu 37 13 88329858 88329858 + Missense_Mutation SNP C C T TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr13:88329858C>T ENST00000325089.6 + 2 2434 c.2215C>T c.(2215-2217)Ccc>Tcc p.P739S SLITRK5_ENST00000400028.3_Missense_Mutation_p.P498S NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 739 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GCCCGCGCTGCCCAAGGTGAA 0.667 19 98 --- --- --- --- MCF2L 23263 broad.mit.edu 37 13 113738343 113738343 + Missense_Mutation SNP G G T TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr13:113738343G>T ENST00000397030.1 + 18 2159 c.2122G>T c.(2122-2124)Gac>Tac p.D708Y MCF2L_ENST00000423482.2_Missense_Mutation_p.D673Y|MCF2L_ENST00000375608.3_Missense_Mutation_p.D705Y|MCF2L_ENST00000375597.4_Missense_Mutation_p.D673Y|MCF2L_ENST00000442652.2_Missense_Mutation_p.D705Y|MCF2L_ENST00000375601.3_Missense_Mutation_p.D679Y|MCF2L_ENST00000434480.2_Missense_Mutation_p.D681Y|MCF2L_ENST00000421756.1_Missense_Mutation_p.D679Y|MCF2L_ENST00000375604.2_Missense_Mutation_p.D732Y|MCF2L_ENST00000535094.2_Missense_Mutation_p.D675Y O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 705 DH. 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|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) AAACTACACTGACTGCCCAGA 0.433 4 78 --- --- --- --- CDC16 8881 broad.mit.edu 37 13 115027372 115027372 + Missense_Mutation SNP A A G TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr13:115027372A>G ENST00000360383.3 + 15 1523 c.1325A>G c.(1324-1326)gAc>gGc p.D442G CDC16_ENST00000252458.6_Missense_Mutation_p.D297G|CDC16_ENST00000375308.1_Missense_Mutation_p.D348G|CDC16_ENST00000375312.3_Missense_Mutation_p.D297G|CDC16_ENST00000252457.5_Missense_Mutation_p.D441G|CDC16_ENST00000375310.1_Missense_Mutation_p.D348G|CDC16_ENST00000356221.3_Missense_Mutation_p.D442G NM_001078645.1|NM_003903.3 NP_001072113.1|NP_003894.3 Q13042 CDC16_HUMAN cell division cycle 16 442 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule binding endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) GTAACAGTTGACAAATGGGAA 0.378 5 80 --- --- --- --- THSD4 79875 broad.mit.edu 37 15 72037466 72037466 + Missense_Mutation SNP G G A TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr15:72037466G>A ENST00000355327.3 + 12 2062 c.1928G>A c.(1927-1929)cGc>cAc p.R643H THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.R643H|THSD4_ENST00000357769.4_Missense_Mutation_p.R283H Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 643 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CCTATTTTCCGCTGTGTGCAC 0.542 92 321 --- --- --- --- GOLGA6A 342096 broad.mit.edu 37 15 74368249 74368249 + Silent SNP G G A TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr15:74368249G>A ENST00000290438.3 - 8 682 c.642C>T c.(640-642)caC>caT p.H214H NM_001038640.2 NP_001033729.2 Q9NYA3 GOG6A_HUMAN golgin A6 family, member A 214 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1) 16 CCTGTGTCACGTGTGCGTTCA 0.582 4 134 --- --- --- --- TLK2 11011 broad.mit.edu 37 17 60685506 60685506 + Silent SNP A A G TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr17:60685506A>G ENST00000582809.1 + 22 2332 c.1629A>G c.(1627-1629)gcA>gcG p.A543A TLK2_ENST00000346027.5_Silent_p.A692A|TLK2_ENST00000343388.7_Silent_p.A660A|TLK2_ENST00000542523.1_Silent_p.A660A|TLK2_ENST00000326270.9_Silent_p.A714A Q86UE8 TLK2_HUMAN tousled-like kinase 2 714 Protein kinase. cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 CACCTGAAGCAAAGGTAAGTT 0.418 6 33 --- --- --- --- UNC13D 201294 broad.mit.edu 37 17 73827403 73827403 + Missense_Mutation SNP G G A TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr17:73827403G>A ENST00000207549.4 - 26 2853 c.2474C>T c.(2473-2475)aCa>aTa p.T825I UNC13D_ENST00000412096.2_Missense_Mutation_p.T825I NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 825 MHD2. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) CACTGTGAGTGTGTGGGTCCA 0.657 Familial Hemophagocytic Lymphohistiocytosis 13 26 --- --- --- --- PGLYRP2 114770 broad.mit.edu 37 19 15582860 15582860 + Missense_Mutation SNP C C T TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr19:15582860C>T ENST00000292609.4 - 3 1313 c.1184G>A c.(1183-1185)gGc>gAc p.G395D PGLYRP2_ENST00000340880.4_Missense_Mutation_p.G395D Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 395 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 CTTCGGGCGGCCCCGATAAGG 0.662 6 38 --- --- --- --- IL17RA 23765 broad.mit.edu 37 22 17586829 17586829 + Missense_Mutation SNP A A G TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr22:17586829A>G ENST00000319363.6 + 11 1163 c.1030A>G c.(1030-1032)Acc>Gcc p.T344A NM_014339.5 NP_055154.3 Q96F46 I17RA_HUMAN interleukin 17 receptor A 344 fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) CGTCTGCATGACCTGGAGGCT 0.572 3 48 --- --- --- --- PIWIL3 440822 broad.mit.edu 37 22 25147435 25147435 + Silent SNP A A G TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr22:25147435A>G ENST00000332271.5 - 9 1424 c.1008T>C c.(1006-1008)gaT>gaC p.D336D PIWIL3_ENST00000527701.1_Silent_p.D227D|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Silent_p.D227D NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 336 PAZ. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TCCAATCAATATCATCTACTC 0.338 43 123 --- --- --- --- FOXR2 139628 broad.mit.edu 37 X 55650284 55650284 + Missense_Mutation SNP C C T TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chrX:55650284C>T ENST00000339140.3 + 1 452 c.140C>T c.(139-141)gCc>gTc p.A47V NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 47 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 CAAATCCTTGCCAAATACAGA 0.527 3 34 --- --- --- --- MAGEA10 4109 broad.mit.edu 37 X 151303840 151303840 + Missense_Mutation SNP G G T TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chrX:151303840G>T ENST00000370323.4 - 4 569 c.253C>A c.(253-255)Cag>Aag p.Q85K RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.Q85K NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386 P43363 MAGAA_HUMAN melanoma antigen family A, 10 85 endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) TGAGCACTCTGGGGAGGATTT 0.542 5 101 --- --- --- --- SLC30A9 10463 broad.mit.edu 37 4 42024869 42024869 + Frame_Shift_Del DEL T T - TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr4:42024869delT ENST00000264451.7 + 5 629 c.449delT c.(448-450)cttfs p.L150fs NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CTAGAACAACTTCGAAAAATC 0.343 28 60 --- --- --- --- HNRNPUL2 221092 broad.mit.edu 37 11 62484484 62484486 + In_Frame_Del DEL TTC TTC - TCGA-VP-A879-01A-11D-A34U-08 TCGA-VP-A879-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff201859-353a-48ec-80f0-4efbd0274515 d19f8f3a-2084-4991-b2d4-e42c6747adc5 g.chr11:62484484_62484486delTTC ENST00000301785.5 - 11 2148_2150 c.1956_1958delGAA c.(1954-1959)cagaac>cac p.652_653QN>H HNRNPUL2-BSCL2_ENST00000403734.2_In_Frame_Del_p.652_653QN>H NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 652 cell killing nucleus ATP binding|nucleic acid binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 CCGGCTTCGGTTCTGCCGGTTAC 0.557 20 72 --- --- --- ---