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 GSAP 54103 broad.mit.edu 37 7 76982299 76982299 + Missense_Mutation SNP T T G TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr7:76982299T>G ENST00000257626.7 - 18 1531 c.1453A>C c.(1453-1455)Aaa>Caa p.K485Q NM_017439.3 NP_059135.2 gamma-secretase activating protein GGCAATAGTTTGTCCATGTTA 0.363000 6 271 0 0 1 0 0 HYOU1 10525 broad.mit.edu 37 11 118919563 118919563 + Silent SNP G G A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr11:118919563G>A ENST00000404233.3 - 18 2152 c.2028C>T c.(2026-2028)ggC>ggT p.G676G HYOU1_ENST00000525859.1_Silent_p.G614G|HYOU1_ENST00000529972.1_Silent_p.G614G|HYOU1_ENST00000543287.1_3'UTR NM_001130991.1|NM_006389.3 NP_001124463.1|NP_006380.1 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 676 endoplasmic reticulum lumen ATP binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) CTGGAGCGACGCCCTCAGGCC 0.612000 23 50 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70637824 70637824 + Missense_Mutation SNP C C A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr6:70637824C>A ENST00000322773.4 + 5 392 c.290C>A c.(289-291)cCt>cAt p.P97H NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 97 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 AAAGGCCTTCCTGAGGAGTAC 0.418000 5 73 1 1 1 1 0 VGLL2 245806 broad.mit.edu 37 6 117586987 117586987 + Missense_Mutation SNP G G A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr6:117586987G>A ENST00000326274.5 + 1 251 c.61G>A c.(61-63)Gcc>Acc p.A21T VGLL2_ENST00000352536.3_Missense_Mutation_p.A21T NM_182645.2 NP_872586.1 Q8N8G2 VGLL2_HUMAN vestigial like 2 (Drosophila) 21 transcription, DNA-dependent nucleus p.A21S(1) central_nervous_system(1)|kidney(1)|lung(3) 5 GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757) CTTCGCAGCCGCCTACACCCC 0.582000 5 18 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5921341 5921341 + Missense_Mutation SNP G G A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr9:5921341G>A ENST00000399933.3 - 8 4654 c.4655C>T c.(4654-4656)cCg>cTg p.P1552L KIAA2026_ENST00000381461.2_Missense_Mutation_p.P1522L NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 1552 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) CACTGTAGACGGAATCAGTAC 0.383000 61 91 0 0 1 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51955819 51955819 + Silent SNP C C T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr19:51955819C>T ENST00000321424.3 - 7 1380 c.1314G>A c.(1312-1314)tcG>tcA p.S438S SIGLEC8_ENST00000340550.5_Silent_p.S345S|SIGLEC8_ENST00000430817.1_Silent_p.S329S NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 438 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CCTCCCCTGACGAGGGGGCAA 0.577000 17 28 0 0 1 0 0 TOX4 9878 broad.mit.edu 37 14 21961062 21961062 + Silent SNP T T A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr14:21961062T>A ENST00000405508.1 + 8 1563 c.1287T>A c.(1285-1287)gcT>gcA p.A429A TOX4_ENST00000262709.3_Silent_p.A429A|TOX4_ENST00000448790.2_Silent_p.A406A O94842 TOX4_HUMAN TOX high mobility group box family member 4 429 Gln/Pro-rich.|Poly-Ala. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding p.A429A(1) large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) CAGCAGCAGCTGCTGCTGCTG 0.582000 4 104 0 0 1 0 0 DAPK2 23604 broad.mit.edu 37 15 64275809 64275809 + Silent SNP C C T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr15:64275809C>T ENST00000261891.3 - 2 242 c.237G>A c.(235-237)cgG>cgA p.R79R DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000558069.1_Silent_p.R79R|DAPK2_ENST00000457488.1_Silent_p.R79R Q9UIK4 DAPK2_HUMAN death-associated protein kinase 2 79 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 11 LUAD - Lung adenocarcinoma(2;0.215) GCAGCACCTGCCGCAGGATGC 0.632000 3 37 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72298681 72298681 + RNA SNP G G T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr7:72298681G>T ENST00000438125.1 - 0 72 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity AGGAGACTAGGATCTCGGACC 0.632000 5 25 0.000274275 0.000307723 1 1 0 ITK 3702 broad.mit.edu 37 5 156638349 156638349 + Missense_Mutation SNP C C T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr5:156638349C>T ENST00000422843.3 + 3 447 c.295C>T c.(295-297)Cgg>Tgg p.R99W CTB-4E7.1_ENST00000519375.1_RNA NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 99 PH. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCGTGAGAGCCGGCAGCGCTG 0.493000 T SYK peripheral T-cell lymphoma 13 35 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1271887 1271887 + Missense_Mutation SNP G G A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr11:1271887G>A ENST00000447027.1 + 31 13844 c.13786G>A c.(13786-13788)Gtg>Atg p.V4596M MUC5B_ENST00000529681.1_Missense_Mutation_p.V4593M Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4593 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CACTACCAAAGTGCCGACTAC 0.657000 11 64 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152688489 152688489 + Missense_Mutation SNP A A T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr6:152688489A>T ENST00000367255.5 - 62 10437 c.9836T>A c.(9835-9837)gTt>gAt p.V3279D SYNE1_ENST00000448038.1_Missense_Mutation_p.V3286D|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3279D|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3318D|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3286D NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3279 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GTGTTCTGCAACGATTCTATC 0.443000 HNSCC(10;0.0054) 22 82 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55659088 55659088 + Missense_Mutation SNP T T A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr11:55659088T>A ENST00000449290.2 + 7 1431 c.1339T>A c.(1339-1341)Ttt>Att p.F447I TRIM51_ENST00000244891.3_Missense_Mutation_p.F304I NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 447 B30.2/SPRY. intracellular zinc ion binding CAGGCCTATCTTTTGCTGTAG 0.458000 23 99 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62288998 62288998 + Missense_Mutation SNP T T A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr11:62288998T>A ENST00000378024.4 - 5 13165 c.12891A>T c.(12889-12891)aaA>aaT p.K4297N AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4297 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CGATGTCCACTTTGGGGCCCT 0.512000 118 217 0 0 1 0 0 CNDP1 84735 broad.mit.edu 37 18 72245549 72245549 + Missense_Mutation SNP C C T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr18:72245549C>T ENST00000582365.1 + 8 1091 c.1025C>T c.(1024-1026)gCg>gTg p.A342V CNDP1_ENST00000358821.3_Missense_Mutation_p.A385V Q96KN2 CNDP1_HUMAN carnosine dipeptidase 1 (metallopeptidase M20 family) 385 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) AATGTGTCTGCGGTGGAAAAA 0.443000 34 67 0 0 1 0 0 TRDN 10345 broad.mit.edu 37 6 123687296 123687296 + Silent SNP C C T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr6:123687296C>T ENST00000334268.4 - 20 1622 c.1305G>A c.(1303-1305)gcG>gcA p.A435A TRDN_ENST00000398178.3_Silent_p.A435A Q13061 TRDN_HUMAN triadin 435 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) TAATTGAAACCGCACCAATCT 0.323000 4 8 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155735541 155735541 + Silent SNP G G C TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr1:155735541G>C ENST00000437809.1 - 21 3845 c.3723C>G c.(3721-3723)gcC>gcG p.A1241A GON4L_ENST00000368331.1_Silent_p.A1241A|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Silent_p.A1241A|GON4L_ENST00000361040.5_Silent_p.A1241A Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1241 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) GGCCCTGAAAGGCATTTTCCC 0.502000 13 56 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 68940103 68940103 + Missense_Mutation SNP T T A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr10:68940103T>A ENST00000433211.1 - 7 1193 c.1019A>T c.(1018-1020)cAg>cTg p.Q340L CTNNA3_ENST00000545309.1_Missense_Mutation_p.Q340L|CTNNA3_ENST00000373744.4_Missense_Mutation_p.Q340L|CTNNA3_ENST00000494580.1_5'UTR NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 340 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 AAGCAGATCCTGAAGAGCCTG 0.498000 6 52 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134084164 134084164 + Missense_Mutation SNP T T A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr4:134084164T>A ENST00000264360.4 + 4 3656 c.2830T>A c.(2830-2832)Tgt>Agt p.C944S NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 944 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CACTGAGGAATGTAAAGCTCT 0.478000 11 58 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 52 0 0 1 0 0 ALG8 79053 broad.mit.edu 37 11 77815429 77815429 + Missense_Mutation SNP G G C TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr11:77815429G>C ENST00000376156.3 - 11 1252 c.1249C>G c.(1249-1251)Ctc>Gtc p.L417V ALG8_ENST00000532552.2_5'UTR|ALG8_ENST00000299626.5_Missense_Mutation_p.L417V NM_001007027.2 NP_001007028.1 Q9BVK2 ALG8_HUMAN ALG8, alpha-1,3-glucosyltransferase 417 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 30 all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;9.66e-25) AGAGGAAAGAGGGAATAATGT 0.378000 3 7 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20976630 20976630 + Missense_Mutation SNP A A G TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr16:20976630A>G ENST00000261383.3 - 53 8575 c.8576T>C c.(8575-8577)aTc>aCc p.I2859T DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2859 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CCTTTCCCGGATCCGCTTCAT 0.493000 39 90 0 0 1 0 0 KLHL26 55295 broad.mit.edu 37 19 18775073 18775073 + Missense_Mutation SNP C C T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr19:18775073C>T ENST00000300976.4 + 2 176 c.86C>T c.(85-87)aCg>aTg p.T29M KLHL26_ENST00000595182.1_Missense_Mutation_p.T29M|KLHL26_ENST00000599006.1_Missense_Mutation_p.T29M|KLHL26_ENST00000596843.1_3'UTR NM_018316.1 NP_060786.1 Q53HC5 KLH26_HUMAN kelch-like family member 26 29 breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 CCCCGCAGCACGGCCGACAAG 0.622000 18 102 0 0 1 0 0 USP29 0 broad.mit.edu 37 19 57642355 57642355 + Missense_Mutation SNP C C A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr19:57642355C>A ENST00000254181.4 + 4 2766 c.2312C>A c.(2311-2313)tCt>tAt p.S771Y USP29_ENST00000598197.1_Missense_Mutation_p.S771Y NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 771 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTCAATCAGTCTACAGAATTA 0.453000 4 27 0.000602214 0.000651809 1 1 0 C20orf194 25943 broad.mit.edu 37 20 3259591 3259591 + Missense_Mutation SNP G G A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr20:3259591G>A ENST00000252032.9 - 29 2684 c.2617C>T c.(2617-2619)Ctc>Ttc p.L873F C20orf194_ENST00000453730.2_3'UTR NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 873 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 TTAGGAAAGAGAAATCTAGGG 0.368000 8 104 0 0 1 0 0 ENPP1 5167 broad.mit.edu 37 6 132207857 132207857 + Missense_Mutation SNP G G T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr6:132207857G>T ENST00000360971.2 + 24 2620 c.2600G>T c.(2599-2601)aGc>aTc p.S867I NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 867 Nuclease. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) AACAGCGAGAGCTGTGTGGTA 0.388000 6 93 0.0293803 0.0303707 1 1 0 DPY19L2 283417 broad.mit.edu 37 12 64041124 64041124 + Missense_Mutation SNP A A G TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr12:64041124A>G ENST00000324472.4 - 5 793 c.610T>C c.(610-612)Tgc>Cgc p.C204R RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 204 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) ATGAATGTGCAATACCAGGAG 0.303000 4 86 0 0 1 0 0 TBC1D7 51256 broad.mit.edu 37 6 13316821 13316821 + Silent SNP C C A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr6:13316821C>A ENST00000607658.1 - 4 570 c.420G>T c.(418-420)cgG>cgT p.R140R TBC1D7_ENST00000379300.3_Silent_p.R167R|TBC1D7_ENST00000379307.2_Silent_p.R140R|TBC1D7_ENST00000356436.4_Silent_p.R167R|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Intron Q9P0N9 TBCD7_HUMAN TBC1 domain family, member 7 167 Rab-GAP TBC. positive regulation of protein ubiquitination cytoplasmic membrane-bounded vesicle protein binding|Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1) 22 Breast(50;0.0296)|Ovarian(93;0.0339) all_hematologic(90;0.135) Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21) GCAAGGAATCCCGGTACTTGG 0.473000 43 87 2.13384e-23 2.54952e-23 1 1 0 FAT3 120114 broad.mit.edu 37 11 92086088 92086088 + Silent SNP T T C TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr11:92086088T>C ENST00000298047.6 + 1 827 c.810T>C c.(808-810)acT>acC p.T270T FAT3_ENST00000409404.2_Silent_p.T270T|FAT3_ENST00000525166.1_Silent_p.T120T|FAT3_ENST00000541502.1_Silent_p.T270T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 270 Cadherin 3. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATGTAGTCACTCATGTTCCTT 0.423000 TCGA Ovarian(4;0.039) 14 84 0 0 1 0 0 SP2 6668 broad.mit.edu 37 17 45993545 45993545 + Silent SNP C C G TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr17:45993545C>G ENST00000376741.4 + 3 245 c.108C>G c.(106-108)gcC>gcG p.A36A AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA NM_003110.5 NP_003101.3 Q02086 SP2_HUMAN Sp2 transcription factor 36 immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|histone deacetylase binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 13 CTCCCTTAGCCCTGCTTGCTG 0.577000 49 175 0 0 1 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22855263 22855263 + Missense_Mutation SNP C C A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr15:22855263C>A ENST00000283645.4 + 13 1854 c.1724C>A c.(1723-1725)gCg>gAg p.A575E TUBGCP5_ENST00000453949.2_Missense_Mutation_p.A575E|TUBGCP5_ENST00000559846.1_3'UTR NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 575 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) CTGCAGTGTGCGGAGAGCACC 0.562000 3 11 0.115264 0.117825 1 1 0 NR1D1 9572 broad.mit.edu 37 17 38249344 38249344 + Missense_Mutation SNP C C T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr17:38249344C>T ENST00000246672.3 - 8 2467 c.1837G>A c.(1837-1839)Gcc>Acc p.A613T THRA_ENST00000394121.4_Silent_p.G394G|THRA_ENST00000584985.1_Intron|THRA_ENST00000264637.4_Silent_p.G394G NM_021724.3 NP_068370.1 P20393 NR1D1_HUMAN nuclear receptor subfamily 1, group D, member 1 613 cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2) 11 Colorectal(19;0.000442) GGTCACTGGGCGTCCACCCGG 0.592000 12 65 0 0 1 0 0 HNRNPH1 3187 broad.mit.edu 37 5 179050048 179050048 + Missense_Mutation SNP C C A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr5:179050048C>A ENST00000356731.5 - 1 1622 c.87G>T c.(85-87)agG>agT p.R29S HNRNPH1_ENST00000510411.1_Missense_Mutation_p.R29S|HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.R29S|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.R29S|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.R29S P31943 HNRH1_HUMAN heterogeneous nuclear ribonucleoprotein H1 (H) 29 RRM 1. regulation of RNA splicing actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|poly(U) RNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1) 14 CAGAAAAAAACCTCTGCACTT 0.672000 5 18 0.000602214 0.000651809 1 1 0 AC009499.1 0 broad.mit.edu 37 2 33952672 33952672 + RNA SNP G G A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr2:33952672G>A ENST00000366209.2 + 0 68 MYADML_ENST00000474610.1_RNA TGGCGTGGTCGCGGGAACGGC 0.642000 7 10 0 0 1 0 0 UBE2C 11065 broad.mit.edu 37 20 44444280 44444280 + Missense_Mutation SNP A A G TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr20:44444280A>G ENST00000405520.1 + 3 1037 c.200A>G c.(199-201)aAc>aGc p.N67S UBE2C_ENST00000496085.1_3'UTR|UBE2C_ENST00000372568.4_Missense_Mutation_p.N67S|UBE2C_ENST00000352551.5_Missense_Mutation_p.N77S|UBE2C_ENST00000335046.3_Intron|UBE2C_ENST00000356455.4_Missense_Mutation_p.N106S|UBE2C_ENST00000243893.6_Intron NM_181802.1 NP_861518.1 O00762 UBE2C_HUMAN ubiquitin-conjugating enzyme E2C 106 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization anaphase-promoting complex|cytosol|nucleoplasm ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(2)|lung(2)|skin(1) 5 Myeloproliferative disorder(115;0.0122) TATCACCCCAACGTGGACACC 0.522000 21 86 0 0 1 0 0 KCNJ16 3773 broad.mit.edu 37 17 68128240 68128240 + Silent SNP C C T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr17:68128240C>T ENST00000585558.1 + 4 505 c.117C>T c.(115-117)taC>taT p.Y39Y KCNJ16_ENST00000586462.1_Silent_p.Y43Y|KCNJ16_ENST00000392670.1_Silent_p.Y4Y|KCNJ16_ENST00000283936.1_Silent_p.Y4Y|KCNJ16_ENST00000589377.1_Silent_p.Y4Y|KCNJ16_ENST00000392671.1_Silent_p.Y4Y Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 4 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) TGAGCTATTACGGCAGCAGCT 0.428000 9 38 0 0 1 0 0 ANP32A 8125 broad.mit.edu 37 15 69080172 69080172 + Silent SNP T T C TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr15:69080172T>C ENST00000465139.2 - 2 284 c.141A>G c.(139-141)ttA>ttG p.L47L ANP32A_ENST00000560303.1_Silent_p.L47L|ANP32A_ENST00000483551.2_5'UTR NM_006305.3 NP_006296.1 P39687 AN32A_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 family, member A 47 intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm protein binding endometrium(1)|large_intestine(1)|lung(2) 4 TGATTGTACTTAAGAATTCCA 0.453000 36 67 0 0 1 0 0 DPY19L2 283417 broad.mit.edu 37 12 64041106 64041106 + Missense_Mutation SNP T T C TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr12:64041106T>C ENST00000324472.4 - 5 811 c.628A>G c.(628-630)Atg>Gtg p.M210V RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 210 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) AATAAATTCATTATTCCCATG 0.318000 4 79 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236746154 236746154 + Missense_Mutation SNP G G A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr1:236746154G>A ENST00000366582.3 - 19 2558 c.2444C>T c.(2443-2445)cCt>cTt p.P815L HEATR1_ENST00000366581.2_Missense_Mutation_p.P815L NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 815 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CAGTTGTTCAGGATTCCACCA 0.433000 5 30 0 0 1 0 0 NOD2 64127 broad.mit.edu 37 16 50733808 50733808 + Silent SNP C C T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr16:50733808C>T ENST00000300589.2 + 2 588 c.483C>T c.(481-483)ttC>ttT p.F161F NOD2_ENST00000526417.2_3'UTR NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 161 CARD 2. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) AGCGGGGTTTCGTCAGCCAGT 0.582000 7 21 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16436341 16436341 + Missense_Mutation SNP C C A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr9:16436341C>A ENST00000380672.4 - 6 1908 c.1851G>T c.(1849-1851)atG>atT p.M617I BNC2_ENST00000380666.2_Missense_Mutation_p.M617I|BNC2_ENST00000380667.2_Missense_Mutation_p.M550I|BNC2_ENST00000545497.1_Missense_Mutation_p.M522I NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 617 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) GGGTGGCCATCATCACTGCTG 0.562000 9 51 6.42651e-13 7.48404e-13 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168102424 168102424 + Missense_Mutation SNP G G T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr2:168102424G>T ENST00000409195.1 + 9 4611 c.4522G>T c.(4522-4524)Ggt>Tgt p.G1508C XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G1508C|XIRP2_ENST00000409273.1_Missense_Mutation_p.G1286C NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1333 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGCACATAAAGGTATCACAAA 0.388000 23 49 3.85864e-22 4.55122e-22 1 1 0 QSER1 79832 broad.mit.edu 37 11 32956318 32956318 + Missense_Mutation SNP C C T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr11:32956318C>T ENST00000399302.2 + 4 3462 c.3127C>T c.(3127-3129)Ctt>Ttt p.L1043F QSER1_ENST00000527788.1_Missense_Mutation_p.L804F NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1043 breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) TAGGAGTGCACTTGCACTGTT 0.433000 4 44 0 0 1 0 0 SLC9A9 285195 broad.mit.edu 37 3 143185954 143185954 + Missense_Mutation SNP G G A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr3:143185954G>A ENST00000316549.6 - 12 1602 c.1394C>T c.(1393-1395)aCg>aTg p.T465M NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 465 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 GAGGAGCAGCGTAGTGGTAAA 0.488000 4 29 0 0 1 0 0 PCDHA10 0 broad.mit.edu 37 5 140237812 140237812 + Missense_Mutation SNP G G A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr5:140237812G>A ENST00000307360.5 + 1 2179 c.2179G>A c.(2179-2181)Gag>Aag p.E727K PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGCCCACCGAGGGCGCATG 0.652000 4 13 0 0 1 0 0 CYP11B1 0 broad.mit.edu 37 8 143957228 143957228 + Missense_Mutation SNP G G A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr8:143957228G>A ENST00000292427.4 - 6 1053 c.1021C>T c.(1021-1023)Cgc>Tgc p.R341C CYP11B1_ENST00000517471.1_Missense_Mutation_p.R341C|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R412C NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 341 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) CTCTCCTGGCGCAGGGCCTGC 0.642000 Familial Hyperaldosteronism type I 28 84 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11596383 11596383 + Missense_Mutation SNP C C T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr1:11596383C>T ENST00000304391.6 + 5 596 c.478C>T c.(478-480)Cgc>Tgc p.R160C PTCHD2_ENST00000389575.3_Silent_p.D1273D|PTCHD2_ENST00000294484.6_Silent_p.D1273D Q9P2K9 PTHD2_HUMAN patched domain containing 2 0 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GCCCCCAGGACGCCCGAACGC 0.716000 9 9 0 0 1 0 0 RELB 5971 broad.mit.edu 37 19 45525436 45525436 + Silent SNP G G A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr19:45525436G>A ENST00000221452.8 + 5 780 c.630G>A c.(628-630)gtG>gtA p.V210V RELB_ENST00000540120.1_Silent_p.V210V|RELB_ENST00000505236.1_Silent_p.V207V NM_006509.3 NP_006500.2 Q01201 RELB_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog B 210 RHD. nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1) 12 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) TCTGCAGGGTGCGGCTCCGGC 0.652000 15 28 0 0 1 0 0 SSTR4 6754 broad.mit.edu 37 20 23016578 23016578 + Missense_Mutation SNP G G A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr20:23016578G>A ENST00000255008.3 + 1 522 c.458G>A c.(457-459)cGc>cAc p.R153H RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 153 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) CACCCTCTGCGCGCGGCGACC 0.667000 13 94 0 0 1 0 0 CD1C 911 broad.mit.edu 37 1 158261881 158261881 + Silent SNP T T C TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr1:158261881T>C ENST00000368170.3 + 3 615 c.336T>C c.(334-336)ttT>ttC p.F112F NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 112 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) CAGATCCCTTTGAAGTACAGG 0.428000 39 58 0 0 1 0 0 HSPA8 3312 broad.mit.edu 37 11 122929402 122929402 + Missense_Mutation SNP T T C TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr11:122929402T>C ENST00000534624.1 - 7 1736 c.1460A>G c.(1459-1461)aAt>aGt p.N487S HSPA8_ENST00000534319.1_Missense_Mutation_p.N251S|HSPA8_ENST00000533540.1_Missense_Mutation_p.N341S|HSPA8_ENST00000532636.1_Missense_Mutation_p.N487S|HSPA8_ENST00000526110.1_Missense_Mutation_p.N468S|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.N487S NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 487 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) AGCAGAGACATTGAGTATACC 0.453000 19 136 0 0 1 0 0 ZNF354B 117608 broad.mit.edu 37 5 178310743 178310743 + Silent SNP A A C rs141045688 TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr5:178310743A>C ENST00000322434.3 + 5 1516 c.1290A>C c.(1288-1290)atA>atC p.I430I NM_058230.2 NP_478137.1 Q96LW1 Z354B_HUMAN zinc finger protein 354B 430 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GACACCGAATAATTCATACTG 0.353000 3 54 0 0 1 0 0 IGFBP3 3486 broad.mit.edu 37 7 45957023 45957023 + Missense_Mutation SNP G G A rs139238956 TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr7:45957023G>A ENST00000275521.6 - 2 552 c.419C>T c.(418-420)tCg>tTg p.S140L IGFBP3_ENST00000381086.5_Missense_Mutation_p.S43L|IGFBP3_ENST00000381083.4_Missense_Mutation_p.S146L|IGFBP3_ENST00000465642.1_5'UTR NM_000598.4|NM_001013398.1 NP_000589.2|NP_001013416.1 P17936 IBP3_HUMAN insulin-like growth factor binding protein 3 140 Ser/Thr-rich. negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth nucleus insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity large_intestine(6)|lung(7)|pancreas(1)|prostate(3) 17 Mecasermin(DB01277) GTCTTCCTCCGACTCACTAGC 0.502000 OREG0018049 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 27 0 0 1 0 0 APBB1IP 54518 broad.mit.edu 37 10 26825137 26825137 + Silent SNP A A G TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr10:26825137A>G ENST00000376236.4 + 10 1490 c.1035A>G c.(1033-1035)ggA>ggG p.G345G NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 345 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 TACCCAAAGGAAAGACTAAGG 0.328000 26 129 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84607667 84607667 + Missense_Mutation SNP C C T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr9:84607667C>T ENST00000344803.2 + 4 2329 c.2282C>T c.(2281-2283)tCa>tTa p.S761L NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 GAGAGGAGCTCAAATATGCTT 0.468000 8 27 0 0 1 0 0 SIRPB2 284759 broad.mit.edu 37 20 1457915 1457915 + Silent SNP G G T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr20:1457915G>T ENST00000537284.1 - 5 849 c.513C>A c.(511-513)gtC>gtA p.V171V SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000359801.3_Intron|SIRPB2_ENST00000381630.1_3'UTR Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 0 Ig-like V-type 2. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CCCTTCCCATGACCAAGCCAT 0.567000 16 78 0.000308642 0.000342109 1 1 0 CCT8L2 150160 broad.mit.edu 37 22 17072764 17072764 + Missense_Mutation SNP C C T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr22:17072764C>T ENST00000359963.3 - 1 936 c.677G>A c.(676-678)gGg>gAg p.G226E NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 226 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity 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) ACAGAGCTTCCCAGATATTGC 0.607000 11 44 0 0 1 0 0 CENPT 80152 broad.mit.edu 37 16 67865131 67865131 + Silent SNP G G A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr16:67865131G>A ENST00000562787.1 - 10 1239 c.691C>T c.(691-693)Ctg>Ttg p.L231L CENPT_ENST00000440851.2_Silent_p.L231L|CENPT_ENST00000564817.1_Silent_p.L231L|CENPT_ENST00000445712.2_Silent_p.L128L|CENPT_ENST00000219172.3_Silent_p.L231L|CENPT_ENST00000562947.1_5'UTR NM_025082.3 NP_079358.3 Q96BT3 CENPT_HUMAN centromere protein T 231 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding NS(1)|breast(2)|lung(6)|urinary_tract(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) GGAGGAGCCAGGGAAGTATCT 0.602000 4 29 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 6 75 0 0 1 0 0 GRIN2A 0 broad.mit.edu 37 16 9858512 9858512 + Silent SNP G G A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr16:9858512G>A ENST00000396573.2 - 14 3198 c.2889C>T c.(2887-2889)ctC>ctT p.L963L GRIN2A_ENST00000404927.2_Silent_p.L963L|GRIN2A_ENST00000562109.1_Silent_p.L963L|GRIN2A_ENST00000535259.1_Silent_p.L806L|GRIN2A_ENST00000396575.2_Silent_p.L963L|GRIN2A_ENST00000330684.3_Silent_p.L963L NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 963 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CAAATGTTTGGAGTTCGTTCA 0.443000 27 110 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37884140 37884140 + Missense_Mutation SNP C C T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr17:37884140C>T ENST00000406381.2 + 29 4031 c.3521C>T c.(3520-3522)gCc>gTc p.A1174V ERBB2_ENST00000445658.2_Missense_Mutation_p.A928V|ERBB2_ENST00000540147.1_Missense_Mutation_p.A1174V|ERBB2_ENST00000541774.1_Missense_Mutation_p.A1189V|ERBB2_ENST00000269571.5_Missense_Mutation_p.A1204V|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000584601.1_Missense_Mutation_p.A1174V NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 1204 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GGAGGAGCTGCCCCTCAGCCC 0.622000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 6 699 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179469794 179469794 + Missense_Mutation SNP C C A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr2:179469794C>A ENST00000589042.1 - 280 54334 c.54110G>T c.(54109-54111)cGg>cTg p.R18037L TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9097L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9164L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16396L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15469L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8972L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16396 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGTCCTCCCGGACCGCTTT 0.448000 6 128 3.59834e-05 4.087e-05 1 1 0 MYRIP 25924 broad.mit.edu 37 3 40231802 40231802 + Missense_Mutation SNP A A G TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr3:40231802A>G ENST00000302541.6 + 10 1855 c.1513A>G c.(1513-1515)Agg>Ggg p.R505G MYRIP_ENST00000444716.1_Missense_Mutation_p.R505G|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Missense_Mutation_p.R416G|MYRIP_ENST00000539167.1_Missense_Mutation_p.R318G|MYRIP_ENST00000425621.1_Missense_Mutation_p.R505G NM_015460.2 NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 505 Actin-binding.|Myosin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) GTTGGCCAGCAGGGAGACCTC 0.647000 9 51 0 0 1 0 0 LRP2BP 55805 broad.mit.edu 37 4 186299165 186299165 + Translation_Start_Site SNP G G A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr4:186299165G>A ENST00000510776.1 - 0 1007 LRP2BP_ENST00000505916.1_Intron|LRP2BP_ENST00000328559.7_Intron|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000362004.3_Intron Q9P2M1 LR2BP_HUMAN LRP2 binding protein cytoplasm protein binding breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2) 15 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) TTCTTGTCTCGTTTGCTCTAG 0.338000 3 11 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112622677 112622677 + Missense_Mutation SNP G G A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr12:112622677G>A ENST00000550722.1 - 61 10050 c.9655C>T c.(9655-9657)Cgc>Tgc p.R3219C HECTD4_ENST00000430131.2_Missense_Mutation_p.R2943C|HECTD4_ENST00000377560.5_Missense_Mutation_p.R3193C NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GTGAGGTGGCGGAGGATGATG 0.692000 3 51 0 0 1 0 0 KRT37 8688 broad.mit.edu 37 17 39579113 39579113 + Missense_Mutation SNP C C T rs149307038 by1000genomes TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr17:39579113C>T ENST00000225550.3 - 3 648 c.649G>A c.(649-651)Gcg>Acg p.A217T AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 217 Coil 1B.|Rod. A -> V (in dbSNP:rs16966811). intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) GCCAGGGTCGCGTCATCCAGG 0.652000 22 21 0 0 1 0 0 TRIM33 51592 broad.mit.edu 37 1 115006111 115006111 + Missense_Mutation SNP C C T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr1:115006111C>T ENST00000358465.2 - 3 796 c.713G>A c.(712-714)tGt>tAt p.C238Y TRIM33_ENST00000369543.2_Missense_Mutation_p.C238Y NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 238 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ACATGTCTTACATAGCCACTC 0.343000 T RET papillary thyroid 29 73 0 0 1 0 0 SHANK3 85358 broad.mit.edu 37 22 51143453 51143453 + Missense_Mutation SNP G G A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr22:51143453G>A ENST00000414786.2 + 16 2143 c.1916G>A c.(1915-1917)gGt>gAt p.G639D SHANK3_ENST00000445220.2_Missense_Mutation_p.G654D|SHANK3_ENST00000262795.3_Missense_Mutation_p.G669D F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 669 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) ATTCGCCAGGGTGGCAACCGC 0.632000 12 40 0 0 1 0 0 HRG 3273 broad.mit.edu 37 3 186395542 186395542 + Missense_Mutation SNP C C T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr3:186395542C>T ENST00000232003.4 + 7 1528 c.1448C>T c.(1447-1449)cCg>cTg p.P483L NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 483 His/Pro-rich (HRR). fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) TTCCCATTGCCGCACCACAAA 0.488000 36 58 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 30957343 30957343 + Silent SNP C C T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr2:30957343C>T ENST00000295055.8 - 19 1946 c.1770G>A c.(1768-1770)tcG>tcA p.S590S CAPN13_ENST00000534090.2_Silent_p.S590S NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 590 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TCCACAAGTCCGAGCTCAGGA 0.542000 3 19 0 0 1 0 0 ZNRF4 148066 broad.mit.edu 37 19 5455959 5455959 + Missense_Mutation SNP C C T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr19:5455959C>T ENST00000222033.4 + 1 534 c.457C>T c.(457-459)Cgc>Tgc p.R153C NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 153 PA. integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) ACTGGGCAACCGCTCTCTGGG 0.692000 4 36 0 0 1 0 0 UFL1 23376 broad.mit.edu 37 6 97000426 97000426 + Missense_Mutation SNP T T C TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr6:97000426T>C ENST00000369278.4 + 18 2120 c.2054T>C c.(2053-2055)aTt>aCt p.I685T NM_015323.4 NP_056138.1 O94874 UFL1_HUMAN UFM1-specific ligase 1 685 negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity CCTGCTCTTATTCTGCACCTC 0.413000 7 40 0 0 1 0 0 ITPKC 80271 broad.mit.edu 37 19 41223697 41223697 + Silent SNP T T C TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr19:41223697T>C ENST00000263370.2 + 1 690 c.657T>C c.(655-657)gcT>gcC p.A219A NM_025194.2 NP_079470.1 Q96DU7 IP3KC_HUMAN inositol-trisphosphate 3-kinase C 219 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 14 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) AGCCAAGTGCTGATGGCTCCT 0.517000 3 20 0 0 1 0 0 HDHD2 84064 broad.mit.edu 37 18 44660924 44660924 + Missense_Mutation SNP G G A rs143514214 byFrequency TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr18:44660924G>A ENST00000300605.6 - 3 405 c.253C>T c.(253-255)Cgg>Tgg p.R85W HDHD2_ENST00000587841.1_Intron NM_032124.4 NP_115500.1 Q9H0R4 HDHD2_HUMAN haloacid dehalogenase-like hydrolase domain containing 2 85 R -> Q (in dbSNP:rs7230131). hydrolase activity kidney(2)|large_intestine(2)|lung(1)|skin(1) 6 ACTTGTTTCCGCTCTAGTAAA 0.383000 3 64 0 0 1 0 0 RPL7 6129 broad.mit.edu 37 8 74203464 74203464 + Missense_Mutation SNP C C G TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr8:74203464C>G ENST00000396467.1 - 6 580 c.442G>C c.(442-444)Gag>Cag p.E148Q RPL7_ENST00000396466.1_Missense_Mutation_p.E148Q|RPL7_ENST00000396465.1_Missense_Mutation_p.E148Q|RPL7_ENST00000352983.2_Missense_Mutation_p.E188Q NM_000971.3 NP_000962.2 P18124 RL7_HUMAN ribosomal protein L7 188 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome breast(1)|kidney(1)|large_intestine(2)|lung(1) 5 Breast(64;0.0954) Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134) ATCAAATCCTCCATGCAGATG 0.318000 7 16 0 0 1 0 0 FBXO4 26272 broad.mit.edu 37 5 41929873 41929873 + Missense_Mutation SNP T T G TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr5:41929873T>G ENST00000296812.2 + 3 556 c.500T>G c.(499-501)tTt>tGt p.F167C FBXO4_ENST00000281623.3_Missense_Mutation_p.F167C|FBXO4_ENST00000509134.1_Missense_Mutation_p.F167C NM_033484.2 NP_277019.1 Q9UKT5 FBX4_HUMAN F-box protein 4 167 positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2) 27 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) GTCACTTCTTTTTTACACTCC 0.393000 35 88 0 0 1 0 0 BTN3A3 10384 broad.mit.edu 37 6 26452087 26452087 + Silent SNP G G C TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr6:26452087G>C ENST00000244519.2 + 11 1446 c.1203G>C c.(1201-1203)gtG>gtC p.V401V BTN3A3_ENST00000361232.3_Silent_p.V352V|BTN3A3_ENST00000339789.4_Silent_p.V359V NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 401 B30.2/SPRY. integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 AGGTGGAAGTGGGGGACAGAA 0.493000 5 38 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187070 152187070 + Silent SNP C C T TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr1:152187070C>T ENST00000368801.2 - 3 7110 c.7035G>A c.(7033-7035)gaG>gaA p.E2345E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2345 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGAGCTAGACTCGTGGTGAC 0.562000 13 1389 0 0 1 0 0 OR52L1 338751 broad.mit.edu 37 11 6007621 6007621 + Missense_Mutation SNP C C A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr11:6007621C>A ENST00000332249.4 - 1 594 c.540G>T c.(538-540)ttG>ttT p.L180F NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTTTTCCCAACAAAATGGGGA 0.493000 13 69 0.0167234 0.0176845 1 1 0 ASIC1 41 broad.mit.edu 37 12 50472233 50472233 + Silent SNP C C A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr12:50472233C>A ENST00000228468.4 + 6 1252 c.867C>A c.(865-867)acC>acA p.T289T ASIC1_ENST00000552438.1_Silent_p.T323T|ASIC1_ENST00000447966.2_Silent_p.T289T NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 289 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CCTGGGGCACCTGCAAAGCTG 0.592000 13 49 4.36969e-10 5.02514e-10 1 1 0 VIPR1 7433 broad.mit.edu 37 3 42569561 42569561 + Silent SNP C C A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr3:42569561C>A ENST00000433647.1 + 7 1083 c.459C>A c.(457-459)atC>atA p.I153I VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000543411.1_Silent_p.I146I|VIPR1_ENST00000438259.2_Intron|VIPR1_ENST00000325123.4_Silent_p.I194I|VIPR1-AS1_ENST00000452639.2_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA NM_001251882.1 NP_001238811.1 P32241 VIPR1_HUMAN vasoactive intestinal peptide receptor 1 194 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(284;0.241) CTGTCTTCATCAAAGACTTGG 0.607000 4 55 0.150653 0.152309 1 1 0 AC007563.5 0 broad.mit.edu 37 2 217648266 217648267 + RNA INS - - A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr2:217648266_217648267insA ENST00000447289.1 + 0 510 AGAGGACAGAGAAGGGACCAAG 0.505 2 4 --- --- --- --- RP11-218D6.4 0 broad.mit.edu 37 10 28293617 28293617 + RNA DEL T T - TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr10:28293617delT ENST00000425137.1 + 0 111 CTGAAGTTCATTGCCAGGACT 0.488 2 4 --- --- --- --- FAM99B 0 broad.mit.edu 37 11 1706206 1706232 + RNA DEL CCCAGGAGGGAAGGGGGTCCAGGAGGA CCCAGGAGGGAAGGGGGTCCAGGAGGA - rs113543086 by1000genomes TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr11:1706206_1706232delCCCAGGAGGGAAGGGGGTCCAGGAGGA ENST00000382166.2 - 0 192 NR_026642.1 TCCAGGAGGGCCCAGGAGGGAAGGGGGTCCAGGAGGACAGGGGGTCC 0.722 3 5 --- --- --- --- ATM 472 broad.mit.edu 37 11 108143285 108143293 + In_Frame_Del DEL TATTCTCTG TATTCTCTG - TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr11:108143285_108143293delTATTCTCTG ENST00000278616.4 + 21 3489_3497 c.3104_3112delTATTCTCTG c.(3103-3114)ata>a p.IFSV1035del ATM_ENST00000452508.2_In_Frame_Del_p.IFSV1035del NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1035 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) AGGAAATATATATTCTCTGTAAGAATGGC 0.311 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 25 72 --- --- --- --- METTL25 84190 broad.mit.edu 37 12 82780736 82780736 + Frame_Shift_Del DEL C C - TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr12:82780736delC ENST00000248306.3 + 2 483 c.414delC c.(412-414)aafs p.N138fs METTL25_ENST00000547357.1_3'UTR NM_032230.2 NP_115606.2 methyltransferase like 25 GAAATCAAAACCAGAGAATTG 0.353 16 104 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086382 20086383 + RNA INS - - AAAA TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr14:20086382_20086383insAAAA ENST00000548261.1 + 0 135 TCTTACAAGGTAAAAAAAATGA 0.312 4 2 --- --- --- --- LRRK1 79705 broad.mit.edu 37 15 101552216 101552218 + In_Frame_Del DEL TGT TGT - TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58adc8fa-3f18-4834-b1b5-d45667de6d78 14a14273-2596-4f11-82ef-cdfa397cb9a3 g.chr15:101552216_101552218delTGT ENST00000284395.5 + 11 1676_1678 c.1276_1278delTGT c.(1276-1278)del p.C427del LRRK1_ENST00000388948.3_In_Frame_Del_p.C430del Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 430 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CTCTTAGAAATGTTGTAAAGCTT 0.369 13 76 --- --- --- ---