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 EIF2AK4 440275 broad.mit.edu 37 15 40300312 40300312 + Silent SNP C C G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:40300312C>G ENST00000263791.5 + 25 3535 c.3492C>G c.(3490-3492)gtC>gtG p.V1164V EIF2AK4_ENST00000559311.1_3'UTR|EIF2AK4_ENST00000382727.2_Silent_p.V1136V NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 1164 Histidyl-tRNA synthetase-like. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) TTGATATTGTCACTTCTACCA 0.428000 60 106 0 0 0.000781405 0 0 SSPO 23145 broad.mit.edu 37 7 149486750 149486750 + RNA SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:149486750C>T ENST00000378016.2 + 0 4524 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGGGGGCCATCCAGCTGTGTG 0.652000 6 5 0 0 0.00116845 0 0 MED12 9968 broad.mit.edu 37 X 70338619 70338619 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:70338619G>A ENST00000333646.6 + 1 214 c.15G>A c.(13-15)ggG>ggA p.G5G MED12_ENST00000374102.1_Silent_p.G5G|MED12_ENST00000374080.3_Silent_p.G5G NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 5 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CGGCCTTCGGGATCTTGAGCT 0.667000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 9 5 0 0 0.000673444 0 0 ZNF317 57693 broad.mit.edu 37 19 9269503 9269503 + Splice_Site SNP T T G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:9269503T>G ENST00000247956.6 + 6 692 c.385_splice c.e6-1 p.D129_splice ZNF317_ENST00000360385.3_Splice_Site_p.D97_splice NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 129 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 TTGTTTCAGATTGGGAGACTC 0.413000 16 28 0 0 0.000958276 0 0 ZNF813 126017 broad.mit.edu 37 19 53995275 53995275 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:53995275C>T ENST00000396403.4 + 4 1917 c.1789C>T c.(1789-1791)Cat>Tat p.H597Y ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 597 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) CCTTGCACGTCATCATAGACT 0.378000 11 11 0 0 0.000978159 0 0 USP16 10600 broad.mit.edu 37 21 30419289 30419289 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr21:30419289C>T ENST00000334352.4 + 15 1889 c.1658C>T c.(1657-1659)cCc>cTc p.P553L USP16_ENST00000399976.2_Missense_Mutation_p.P553L|USP16_ENST00000535828.1_Missense_Mutation_p.P182L|USP16_ENST00000399975.3_Missense_Mutation_p.P552L NM_001032410.1 NP_001027582.1 Q9Y5T5 UBP16_HUMAN ubiquitin specific peptidase 16 553 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2) 34 ACATCTTCTCCCACTAGGAAT 0.363000 22 30 0 0 0.000229342 0 0 GLCCI1 113263 broad.mit.edu 37 7 8125850 8125850 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:8125850C>T ENST00000223145.5 + 8 1883 c.1326C>T c.(1324-1326)ctC>ctT p.L442L NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 442 endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) CGGCCCCTCTCTTTTCATGTC 0.393000 64 222 0 0 0.000781405 0 0 MAP3K19 80122 broad.mit.edu 37 2 135744273 135744273 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:135744273C>T ENST00000375845.3 - 7 2199 c.2169G>A c.(2167-2169)atG>atA p.M723I MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.M610I|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.M740I|MAP3K19_ENST00000375844.3_Intron NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 TTGGGCATTTCATATGTGTTT 0.388000 54 79 0 0 0.000781405 0 0 DMRT2 10655 broad.mit.edu 37 9 1051680 1051680 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:1051680G>A ENST00000259622.6 + 1 67 c.67G>A c.(67-69)Gaa>Aaa p.E23K DMRT2_ENST00000382255.3_Missense_Mutation_p.E23K|DMRT2_ENST00000412350.2_Missense_Mutation_p.E23K|DMRT2_ENST00000302441.6_Missense_Mutation_p.E23K|DMRT2_ENST00000358146.2_Missense_Mutation_p.E23K|DMRT2_ENST00000382251.3_Missense_Mutation_p.E23K Q9Y5R5 DMRT2_HUMAN doublesex and mab-3 related transcription factor 2 23 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(1)|prostate(2) 4 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) CCTGGAGCTGGAAGAGGACGT 0.756000 7 0 0 0 8.12818e-05 0 0 RNF145 153830 broad.mit.edu 37 5 158634789 158634789 + Missense_Mutation SNP T T C rs79352335 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:158634789T>C ENST00000274542.2 - 1 45 c.19A>G c.(19-21)Att>Gtt p.I7V RNF145_ENST00000519865.1_Intron|RNF145_ENST00000521606.2_Intron|RNF145_ENST00000424310.2_Intron|RNF145_ENST00000518802.1_Intron NM_144726.2 NP_653327.1 Q96MT1 RN145_HUMAN ring finger protein 145 0 integral to membrane zinc ion binding endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTACTAGCAATTCTGTGGTTT 0.418000 97 178 0 0 0.000781405 0 0 ASTN1 460 broad.mit.edu 37 1 176927571 176927571 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:176927571C>T ENST00000367654.2 - 10 1683 c.1670G>A c.(1669-1671)aGc>aAc p.S557N ASTN1_ENST00000367657.3_Missense_Mutation_p.S549N|ASTN1_ENST00000424564.2_Missense_Mutation_p.S549N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.S549N O14525 ASTN1_HUMAN astrotactin 1 557 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 AATCACAAAGCTCTTGCTGAG 0.562000 6 15 0 0 0.00116845 0 0 BAI1 575 broad.mit.edu 37 8 143570778 143570778 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:143570778C>T ENST00000517894.1 + 16 3504 c.2610C>T c.(2608-2610)atC>atT p.I870I BAI1_ENST00000323289.5_Silent_p.I870I O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 870 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding p.I870I(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CCTTGGAGATCGAGTTTGCCC 0.567000 34 42 0 0 0.00148497 0 0 FAT2 2196 broad.mit.edu 37 5 150885259 150885259 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:150885259C>T ENST00000261800.5 - 23 12929 c.12917G>A c.(12916-12918)gGg>gAg p.G4306E NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 4306 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATAAGAGGGCCCAGCTCGGCT 0.672000 9 23 0 0 0.000442599 0 0 RYR1 6261 broad.mit.edu 37 19 39008218 39008218 + Missense_Mutation SNP C C T rs139289204 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:39008218C>T ENST00000355481.4 + 66 10036 c.9905C>T c.(9904-9906)cCa>cTa p.P3302L RYR1_ENST00000359596.3_Missense_Mutation_p.P3302L|RYR1_ENST00000360985.3_Missense_Mutation_p.P3302L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3302 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.P3302Q(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGCGCCCCCCCACCCTGCACA 0.652000 16 24 0 0 0.000958276 0 0 LILRB1 10859 broad.mit.edu 37 19 55143137 55143137 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:55143137C>T ENST00000396331.1 + 5 614 c.257C>T c.(256-258)cCa>cTa p.P86L LILRB1_ENST00000448689.1_Missense_Mutation_p.P86L|LILRB1_ENST00000396332.4_Missense_Mutation_p.P86L|LILRB1_ENST00000396327.3_Missense_Mutation_p.P86L|LILRB1_ENST00000396315.1_Missense_Mutation_p.P86L|LILRB1_ENST00000418536.2_Missense_Mutation_p.P86L|LILRB1_ENST00000396317.1_Missense_Mutation_p.P86L|LILRB1_ENST00000324602.7_Missense_Mutation_p.P86L|LILRB1_ENST00000427581.2_Missense_Mutation_p.P122L|LILRB1_ENST00000396321.2_Missense_Mutation_p.P86L|LILRB1_ENST00000434867.2_Missense_Mutation_p.P86L NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 86 Ig-like C2-type 1. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) TTCCCCATCCCATCCATCACC 0.552000 HNSCC(37;0.09) 25 40 0 0 0.000720815 0 0 YTHDC2 64848 broad.mit.edu 37 5 112896808 112896808 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:112896808C>T ENST00000161863.4 + 18 2461 c.2248C>T c.(2248-2250)Cgt>Tgt p.R750C NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 750 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) AATTTGTTTTCGTCTGTTCAG 0.353000 9 33 0 0 0.000673444 0 0 GPR153 387509 broad.mit.edu 37 1 6314057 6314057 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:6314057G>A ENST00000377893.2 - 3 766 c.507C>T c.(505-507)ggC>ggT p.G169G NM_207370.2 NP_997253.2 Q6NV75 GP153_HUMAN G protein-coupled receptor 153 169 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1) 14 Ovarian(185;0.0634) all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246) CAAAGCCCAGGCCGATCTCAG 0.662000 5 13 0 0 0.000602214 0 0 RCOR1 23186 broad.mit.edu 37 14 103173840 103173840 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:103173840C>T ENST00000262241.6 + 5 877 c.651C>T c.(649-651)atC>atT p.I217I RCOR1_ENST00000570597.1_Silent_p.I214I NM_015156.3 NP_055971.2 Q9UKL0 RCOR1_HUMAN REST corepressor 1 214 Interaction with HDAC1.|SANT 1. blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 12 TTCATAGAATCCAACAAATGG 0.368000 29 63 0 0 0.001512 0 0 SACS 26278 broad.mit.edu 37 13 23907016 23907016 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr13:23907016G>A ENST00000382298.3 - 10 11587 c.10999C>T c.(10999-11001)Cat>Tat p.H3667Y SACS_ENST00000382292.3_Missense_Mutation_p.H3667Y|SACS_ENST00000402364.1_Missense_Mutation_p.H2917Y NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3667 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TATTGAGGATGAAATCTAATG 0.383000 22 40 0 0 0.000295444 0 0 WDR65 149465 broad.mit.edu 37 1 43663223 43663223 + Splice_Site SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:43663223G>A ENST00000372492.4 + 7 1446 c.e7-1 WDR65_ENST00000528956.1_Splice_Site NM_001195831.2 NP_001182760.2 Q96MR6 WDR65_HUMAN WD repeat domain 65 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GATTTCTCTAGGGGGAGCCTG 0.483000 56 76 0 0 0.000781405 0 0 CXXC11 285093 broad.mit.edu 37 2 242814229 242814229 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:242814229G>A ENST00000343216.3 + 2 550 c.522G>A c.(520-522)acG>acA p.T174T NM_173821.2 NP_776182.2 Q14D33 CB085_HUMAN CXXC finger protein 11 174 integral to membrane TCCCCGCCACGGCCTGGGGTG 0.677000 8 7 0 0 0.000978159 0 0 NFASC 23114 broad.mit.edu 37 1 204945813 204945813 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:204945813A>T ENST00000367172.4 + 16 2049 c.1721A>T c.(1720-1722)gAc>gTc p.D574V NFASC_ENST00000338586.6_Missense_Mutation_p.D574V|NFASC_ENST00000360049.4_Missense_Mutation_p.D585V|NFASC_ENST00000404076.1_Missense_Mutation_p.D568V|NFASC_ENST00000367170.4_Missense_Mutation_p.D574V|NFASC_ENST00000367171.4_Missense_Mutation_p.D574V|NFASC_ENST00000401399.1_Missense_Mutation_p.D574V|NFASC_ENST00000338515.6_Missense_Mutation_p.D574V|NFASC_ENST00000513543.1_Missense_Mutation_p.D585V|NFASC_ENST00000367169.4_Missense_Mutation_p.D574V|NFASC_ENST00000403080.1_Missense_Mutation_p.D574V|NFASC_ENST00000339876.6_Missense_Mutation_p.D574V|NFASC_ENST00000404907.1_Missense_Mutation_p.D585V|NFASC_ENST00000539706.1_Missense_Mutation_p.D585V O94856 NFASC_HUMAN neurofascin 574 Ig-like C2-type 6. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AAGAAGGAAGACGACTCCCTG 0.602000 41 119 0 0 0.00170553 0 0 SHC4 399694 broad.mit.edu 37 15 49176514 49176514 + Silent SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:49176514A>G ENST00000332408.4 - 4 1199 c.771T>C c.(769-771)ttT>ttC p.F257F NM_203349.3 NP_976224.3 Q6S5L8 SHC4_HUMAN SHC (Src homology 2 domain containing) family, member 4 257 PID. intracellular signal transduction cell junction|postsynaptic membrane breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 29 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) TCATTCCTGAAAACTGAAGAT 0.323000 29 52 0 0 0.000339439 0 0 PHACTR2 9749 broad.mit.edu 37 6 144070141 144070141 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:144070141C>T ENST00000427704.2 + 3 331 c.201C>T c.(199-201)tcC>tcT p.S67S PHACTR2_ENST00000305766.6_Silent_p.S67S|PHACTR2_ENST00000440869.2_Silent_p.S78S|PHACTR2_ENST00000397980.3_Silent_p.S78S|PHACTR2_ENST00000367584.4_Silent_p.S135S|PHACTR2_ENST00000367582.3_Silent_p.S78S NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 67 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) GGAAGATATCCACACGACAAA 0.333000 10 20 0 0 0.000673444 0 0 RNF168 165918 broad.mit.edu 37 3 196215511 196215511 + Silent SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:196215511T>C ENST00000318037.3 - 2 939 c.345A>G c.(343-345)gaA>gaG p.E115E NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 115 Glu-rich. double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) CTCTTCTCAGTTCCCCAGGTT 0.318000 22 42 0 0 0.000878237 0 0 TRIM24 8805 broad.mit.edu 37 7 138262304 138262304 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:138262304G>A ENST00000343526.4 + 14 2442 c.2227G>A c.(2227-2229)Gaa>Aaa p.E743K TRIM24_ENST00000415680.2_Missense_Mutation_p.E709K O15164 TIF1A_HUMAN tripartite motif containing 24 743 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 AGTGAAGCAAGAATCAGATGA 0.393000 16 90 0 0 0.000958276 0 0 ERN2 10595 broad.mit.edu 37 16 23718180 23718180 + Missense_Mutation SNP G G A rs148177655 byFrequency TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:23718180G>A ENST00000256797.4 - 6 694 c.526C>T c.(526-528)Cgg>Tgg p.R176W ERN2_ENST00000457008.2_Missense_Mutation_p.R128W NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 128 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) TCCTGCTTCCGGCCTGTGGAG 0.592000 21 21 0 0 0.00121646 0 0 SDC3 9672 broad.mit.edu 37 1 31347418 31347418 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:31347418G>A ENST00000336798.7 - 2 2206 c.714C>T c.(712-714)acC>acT p.T238T SDC3_ENST00000339394.6_Silent_p.T296T O75056 SDC3_HUMAN syndecan 3 296 Ser/Thr-rich (mucin-like). integral to membrane cytoskeletal protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) TGGTCAGGAAGGTCTCTGGAG 0.602000 16 54 0 0 0.000422831 0 0 TAF1L 138474 broad.mit.edu 37 9 32632764 32632764 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:32632764G>A ENST00000242310.4 - 1 2903 c.2814C>T c.(2812-2814)ttC>ttT p.F938F NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 938 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCTTCATCTGGAAATCTTCCT 0.468000 31 15 0 0 0.000409698 0 0 GLP1R 2740 broad.mit.edu 37 6 39040774 39040774 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:39040774G>A ENST00000373256.4 + 6 689 c.646G>A c.(646-648)Ggg>Agg p.G216R NM_002062.3 NP_002053.3 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor 216 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) CCAGTGGGATGGGCTCCTCTC 0.617000 14 35 0 0 0.00074312 0 0 ANKH 56172 broad.mit.edu 37 5 14769104 14769104 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:14769104G>A ENST00000284268.6 - 2 623 c.293C>T c.(292-294)gCc>gTc p.A98V NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 98 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 GTGAAAGACGGCAGCGATGGC 0.483000 29 40 0 0 0.000409698 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140803134 140803134 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:140803134C>T ENST00000398587.2 + 1 2373 c.2340C>T c.(2338-2340)ctC>ctT p.L780L PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGACACGCTCATCAGCCAGG 0.502000 15 31 0 0 0.000308642 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19856931 19856931 + RNA SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:19856931C>T ENST00000548109.1 + 0 72 AACACTTTTTCATAGAATGGC 0.408000 7 38 0 0 0.000157383 0 0 EIF5B 9669 broad.mit.edu 37 2 99977974 99977974 + Nonsense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:99977974C>T ENST00000289371.5 + 4 812 c.610C>T c.(610-612)Cag>Tag p.Q204* NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 204 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GAAAAAAAATCAGAAAAACAA 0.358000 10 26 0 0 0.000978159 0 0 KCNH7 90134 broad.mit.edu 37 2 163393558 163393558 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:163393558G>A ENST00000332142.5 - 3 439 c.340C>T c.(340-342)Cca>Tca p.P114S KCNH7_ENST00000328032.4_Missense_Mutation_p.P114S NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 114 PAC. regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TTTTTCACTGGAATTATGTGA 0.353000 33 55 0 0 0.000814825 0 0 FMN2 56776 broad.mit.edu 37 1 240351539 240351539 + Nonsense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:240351539A>T ENST00000319653.9 + 4 2193 c.1963A>T c.(1963-1965)Aaa>Taa p.K655* NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 655 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AACTCCCCAAAAACGCTCAGA 0.373000 17 71 0 0 0.000958276 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37679361 37679361 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr13:37679361G>A ENST00000379800.3 - 1 442 c.33C>T c.(31-33)ctC>ctT p.L11L NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 11 Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) CTCCCACAACGAGTTCGGCTT 0.592000 38 46 0 0 0.000781405 0 0 COL5A2 1290 broad.mit.edu 37 2 189904289 189904289 + Splice_Site SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:189904289C>T ENST00000374866.3 - 51 3908 c.3633_splice c.e51-1 p.G1212_splice NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 1212 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCAGGAGGGCCCTAATTAAAA 0.483000 13 33 0 0 0.000151284 0 0 ZNF317 57693 broad.mit.edu 37 19 9270855 9270855 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:9270855C>T ENST00000247956.6 + 7 839 c.534C>T c.(532-534)gaC>gaT p.D178D ZNF317_ENST00000360385.3_Silent_p.D146D NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 TTGGCATGGACCCTCATCTCA 0.552000 13 22 0 0 0.000151284 0 0 CPLX4 339302 broad.mit.edu 37 18 56985680 56985680 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr18:56985680C>T ENST00000299721.3 - 1 201 c.15G>A c.(13-15)atG>atA p.M5I CPLX4_ENST00000587244.1_Missense_Mutation_p.M5I NM_181654.3 NP_857637.1 Q7Z7G2 CPLX4_HUMAN complexin 4 5 exocytosis|neurotransmitter transport cell junction|synapse syntaxin binding autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 16 Colorectal(73;0.175) TCATACTTTTCATAAGGAAAG 0.368000 15 28 0 0 0.000219431 0 0 LILRA1 11024 broad.mit.edu 37 19 55107840 55107840 + Missense_Mutation SNP T T G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:55107840T>G ENST00000251372.3 + 7 1327 c.1145T>G c.(1144-1146)tTc>tGc p.F382C LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000396321.2_Intron NM_006863.1 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 382 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CAGGCTGAATTCCCTATGAGT 0.582000 28 79 0 0 0.001512 0 0 PARS2 25973 broad.mit.edu 37 1 55223545 55223545 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:55223545G>A ENST00000371279.3 - 2 1372 c.1290C>T c.(1288-1290)taC>taT p.Y430Y NM_152268.3 NP_689481.2 Q7L3T8 SYPM_HUMAN prolyl-tRNA synthetase 2, mitochondrial (putative) 430 prolyl-tRNA aminoacylation mitochondrial matrix ATP binding|proline-tRNA ligase activity breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1) 15 L-Proline(DB00172) TCACAAAGGGGTAGCCAAACT 0.547000 31 68 0 0 0.00178596 0 0 SLC4A8 9498 broad.mit.edu 37 12 51851149 51851149 + Nonsense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:51851149C>T ENST00000453097.2 + 6 806 c.589C>T c.(589-591)Cag>Tag p.Q197* SLC4A8_ENST00000394856.1_Nonsense_Mutation_p.Q144*|SLC4A8_ENST00000535225.2_Nonsense_Mutation_p.Q144*|SLC4A8_ENST00000358657.3_Nonsense_Mutation_p.Q224*|SLC4A8_ENST00000514353.3_Nonsense_Mutation_p.Q144* NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 197 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) GATCCTGGATCAGCAAGAACT 0.473000 25 30 0 0 0.00106085 0 0 OR2M2 391194 broad.mit.edu 37 1 248343365 248343365 + Silent SNP C C T rs149789397 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:248343365C>T ENST00000359682.2 + 1 78 c.78C>T c.(76-78)ttC>ttT p.F26F NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F26F(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CACACACGTTCCTCTTCTTTC 0.493000 69 181 0 0 0.000781405 0 0 LRFN2 57497 broad.mit.edu 37 6 40400449 40400449 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:40400449T>A ENST00000338305.6 - 2 946 c.404A>T c.(403-405)cAg>cTg p.Q135L NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 135 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GCCGCCCAGCTGGTTGTTGTT 0.597000 16 20 0 0 0.000422831 0 0 MUC16 94025 broad.mit.edu 37 19 9086190 9086190 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:9086190C>T ENST00000397910.4 - 1 5828 c.5625G>A c.(5623-5625)ttG>ttA p.L1875L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1875 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGCCGTTTTCCAATCTGGAGG 0.493000 9 19 0 0 0.000274275 0 0 GJA8 2703 broad.mit.edu 37 1 147380300 147380300 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:147380300C>T ENST00000240986.4 + 2 271 c.218C>T c.(217-219)tCc>tTc p.S73F GJA8_ENST00000369235.1_Missense_Mutation_p.S73F NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 73 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) TTTCCCATCTCCCACATTCGC 0.622000 15 34 0 0 0.000422831 0 0 ARRB2 409 broad.mit.edu 37 17 4621234 4621234 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:4621234C>T ENST00000269260.2 + 8 770 c.537C>T c.(535-537)ccC>ccT p.P179P ARRB2_ENST00000575877.1_Silent_p.P179P|ARRB2_ENST00000381488.6_Silent_p.P164P|ARRB2_ENST00000346341.2_Silent_p.P164P|ARRB2_ENST00000412477.3_Silent_p.P200P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR NM_001257328.1|NM_001257330.1|NM_004313.3 NP_001244257.1|NP_001244259.1|NP_004304.1 P32121 ARRB2_HUMAN arrestin, beta 2 179 cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 CGGAGAAACCCGGCCCCCAGC 0.637000 7 18 0 0 8.12818e-05 0 0 PCDHB7 56129 broad.mit.edu 37 5 140552862 140552862 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:140552862G>A ENST00000231137.3 + 1 620 c.446G>A c.(445-447)gGg>gAg p.G149E NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 149 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCACTCCAGGGGCGGCATTT 0.438000 24 47 0 0 0.000375601 0 0 WSCD1 23302 broad.mit.edu 37 17 5998538 5998538 + Nonsense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:5998538C>T ENST00000574946.1 + 5 1234 c.844C>T c.(844-846)Cag>Tag p.Q282* WSCD1_ENST00000574232.1_Nonsense_Mutation_p.Q282*|WSCD1_ENST00000573634.1_Nonsense_Mutation_p.Q166*|WSCD1_ENST00000317744.5_Nonsense_Mutation_p.Q282*|WSCD1_ENST00000539421.1_Nonsense_Mutation_p.Q282* Q658N2 WSCD1_HUMAN WSC domain containing 1 282 WSC 2. integral to membrane sulfotransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1) 35 CTTTTGTTCCCAGAAAGTAAG 0.562000 9 15 0 0 0.000274275 0 0 HUWE1 10075 broad.mit.edu 37 X 53575230 53575230 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:53575230A>T ENST00000342160.3 - 67 10497 c.10040T>A c.(10039-10041)tTt>tAt p.F3347Y HUWE1_ENST00000262854.6_Missense_Mutation_p.F3347Y Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3347 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GTGGCTGGGAAATACCTGCCG 0.532000 7 13 0 0 8.12818e-05 0 0 EMC1 23065 broad.mit.edu 37 1 19570194 19570194 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:19570194G>A ENST00000477853.1 - 4 336 c.294C>T c.(292-294)atC>atT p.I98I EMC1_ENST00000375208.3_Silent_p.I76I|EMC1_ENST00000375199.3_Silent_p.I98I NM_001271428.1|NM_015047.1 NP_001258357.1|NP_055862.1 ER membrane protein complex subunit 1 TGGACACAGTGATCACATCTG 0.527000 33 45 0 0 0.00058488 0 0 PTGIR 5739 broad.mit.edu 37 19 47124806 47124806 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:47124806C>T ENST00000291294.2 - 3 1025 c.892G>A c.(892-894)Gct>Act p.A298T PTGIR_ENST00000598865.1_Missense_Mutation_p.A86T|PTGIR_ENST00000597185.1_Missense_Mutation_p.A27T|PTGIR_ENST00000594275.1_Missense_Mutation_p.A55T NM_000960.3 NP_000951.1 P43119 PI2R_HUMAN prostaglandin I2 (prostacyclin) receptor (IP) 298 cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 13 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331) Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929) TGGAAGACAGCCTTGCGGAAA 0.637000 30 35 0 0 0.00178596 0 0 MYO7B 4648 broad.mit.edu 37 2 128390866 128390866 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:128390866G>A ENST00000389524.4 + 39 5417 c.5364G>A c.(5362-5364)gtG>gtA p.V1788V MYO7B_ENST00000409816.2_Silent_p.V1787V|MYO7B_ENST00000409090.1_Silent_p.V640V|MYO7B_ENST00000428314.1_Silent_p.V1787V Q6PIF6 MYO7B_HUMAN myosin VIIB 1787 MyTH4 2. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CGCACCAGGTGGAGGTGGAGG 0.672000 7 18 0 0 0.000274275 0 0 KIAA1328 57536 broad.mit.edu 37 18 34647216 34647216 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr18:34647216C>T ENST00000591619.1 + 7 1714 c.928C>T c.(928-930)Cgt>Tgt p.R310C KIAA1328_ENST00000435985.2_Missense_Mutation_p.R30C|KIAA1328_ENST00000586501.1_Missense_Mutation_p.R30C|KIAA1328_ENST00000280020.5_Missense_Mutation_p.R314C|KIAA1328_ENST00000586135.1_Missense_Mutation_p.R30C|KIAA1328_ENST00000543923.1_Missense_Mutation_p.R206C Q86T90 K1328_HUMAN KIAA1328 314 central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 14 COAD - Colon adenocarcinoma(74;0.195) TGCTGCAGATCGTGTTCATGA 0.458000 21 39 0 0 0.000375601 0 0 RBM28 55131 broad.mit.edu 37 7 127958082 127958082 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:127958082G>A ENST00000223073.1 - 15 1755 c.1641C>T c.(1639-1641)ttC>ttT p.F547F RBM28_ENST00000481788.1_Intron|RBM28_ENST00000415472.2_Silent_p.F406F NM_018077.2 NP_060547.2 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 547 RRM 4. mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 CGTGCTCTTGGAACTCCGCAA 0.512000 10 38 0 0 0.000442599 0 0 HECW2 57520 broad.mit.edu 37 2 197208412 197208412 + Nonsense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:197208412C>T ENST00000260983.2 - 3 551 c.369G>A c.(367-369)tgG>tgA p.W123* HECW2_ENST00000409111.1_5'UTR NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 123 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GCTCAATTCTCCATACAATTT 0.373000 89 134 0 0 0.000781405 0 0 ARMC10 83787 broad.mit.edu 37 7 102738832 102738832 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:102738832G>A ENST00000323716.3 + 7 1256 c.864G>A c.(862-864)aaG>aaA p.K288K ARMC10_ENST00000541300.1_Silent_p.K170K|ARMC10_ENST00000454559.1_Silent_p.K194K|ARMC10_ENST00000441711.2_Silent_p.K253K|ARMC10_ENST00000425331.1_Silent_p.K229K|ARMC10_ENST00000428183.2_Silent_p.K229K NM_031905.4 NP_114111.2 Q8N2F6 ARM10_HUMAN armadillo repeat containing 10 288 regulation of growth endoplasmic reticulum membrane|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 11 AGAATATAAAGAACTGCCTCA 0.388000 23 137 0 0 0.000720815 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857332 9857332 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:9857332G>A ENST00000396573.2 - 14 4378 c.4069C>T c.(4069-4071)Ctc>Ttc p.L1357F GRIN2A_ENST00000330684.3_Missense_Mutation_p.L1357F|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L1357F|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000404927.2_Intron NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1357 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) TCTGGCAAGAGAGACTTGCTC 0.532000 18 41 0 0 0.000566183 0 0 MROH2B 133558 broad.mit.edu 37 5 41061770 41061770 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:41061770G>A ENST00000399564.4 - 6 967 c.517C>T c.(517-519)Ccc>Tcc p.P173S NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CTGGGGTAGGGAAAATCTCTC 0.448000 29 64 0 0 0.000692331 0 0 KIAA0430 9665 broad.mit.edu 37 16 15724341 15724341 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:15724341C>T ENST00000396368.3 - 7 1578 c.1372G>A c.(1372-1374)Gaa>Aaa p.E458K KIAA0430_ENST00000344181.3_Missense_Mutation_p.E280K|KIAA0430_ENST00000551742.1_Missense_Mutation_p.E458K|KIAA0430_ENST00000548025.1_Missense_Mutation_p.E455K|KIAA0430_ENST00000602337.1_Missense_Mutation_p.E455K|KIAA0430_ENST00000540441.2_Missense_Mutation_p.E458K NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 457 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TCACTAAGTTCCAATGCAAAA 0.438000 25 23 0 0 0.000878237 0 0 OR4D5 219875 broad.mit.edu 37 11 123810973 123810973 + Missense_Mutation SNP C C T rs138187932 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:123810973C>T ENST00000307033.2 + 1 724 c.650C>T c.(649-651)tCg>tTg p.S217L NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CTTCTGGGATCGTACACAGCA 0.517000 67 45 0 0 0.000781405 0 0 C8B 732 broad.mit.edu 37 1 57399055 57399055 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:57399055G>A ENST00000543257.1 - 11 1915 c.1349C>T c.(1348-1350)tCc>tTc p.S450F C8B_ENST00000371237.4_Missense_Mutation_p.S502F|C8B_ENST00000535057.1_Missense_Mutation_p.S440F NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 502 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex p.S502F(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 ACAGTGGCAGGAACTAACTTC 0.522000 29 39 0 0 0.00106085 0 0 SEC24C 9632 broad.mit.edu 37 10 75527676 75527676 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:75527676C>T ENST00000339365.2 + 16 2254 c.2092C>T c.(2092-2094)Ctc>Ttc p.L698F SEC24C_ENST00000345254.4_Missense_Mutation_p.L698F|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Missense_Mutation_p.L579F|SEC24C_ENST00000540668.1_Intron NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 698 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) AGATCTCTTTCTCTTCCCTAA 0.522000 23 9 0 0 0.000295444 0 0 CDH24 64403 broad.mit.edu 37 14 23518845 23518845 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:23518845C>T ENST00000397359.3 - 11 1961 c.1702G>A c.(1702-1704)Gac>Aac p.D568N CDH24_ENST00000554034.1_Missense_Mutation_p.D530N|CDH24_ENST00000267383.5_Missense_Mutation_p.D568N|CDH24_ENST00000487137.2_Missense_Mutation_p.D530N|CDH24_ENST00000485922.1_5'UTR NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 568 Cadherin 5. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) CCTCGGTTGTCCTGGACAGTA 0.597000 14 19 0 0 0.00121646 0 0 CCDC22 28952 broad.mit.edu 37 X 49099887 49099887 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:49099887G>A ENST00000376227.3 + 6 843 c.673G>A c.(673-675)Gat>Aat p.D225N CCDC22_ENST00000496651.1_3'UTR NM_014008.3 NP_054727.1 O60826 CCD22_HUMAN coiled-coil domain containing 22 225 NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 18 CCGGCCAGGGGATGAGGACTG 0.677000 3 4 0 0 6.4e-05 0 0 TMEM26 219623 broad.mit.edu 37 10 63170154 63170154 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:63170154C>T ENST00000399298.3 - 6 1401 c.1033G>A c.(1033-1035)Gag>Aag p.E345K TMEM26_ENST00000507507.1_5'UTR NM_178505.6 NP_848600.2 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 345 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) TCCTTAGACTCGTTCTGCCAG 0.587000 16 13 0 0 0.000422831 0 0 IGSF9 57549 broad.mit.edu 37 1 159897632 159897632 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:159897632G>A ENST00000368094.1 - 20 3473 c.3276C>T c.(3274-3276)ttC>ttT p.F1092F IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.F1076F NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 1092 cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) TGTCCCCAGGGAATTCTGAGT 0.522000 9 28 0 0 0.000673444 0 0 IFT88 8100 broad.mit.edu 37 13 21217703 21217703 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr13:21217703C>T ENST00000382778.4 + 20 2937 c.1819C>T c.(1819-1821)Cgt>Tgt p.R607C IFT88_ENST00000319980.6_Missense_Mutation_p.R607C|IFT88_ENST00000537103.1_Missense_Mutation_p.R579C|IFT88_ENST00000351808.5_Missense_Mutation_p.R598C Q13099 IFT88_HUMAN intraflagellar transport 88 homolog (Chlamydomonas) 607 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 27 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) ATTATATGATCGTGAAGGAGA 0.338000 23 48 0 0 0.000720815 0 0 MPV17 4358 broad.mit.edu 37 2 27535421 27535421 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:27535421G>A ENST00000402722.1 - 5 314 c.280C>T c.(280-282)Ccc>Tcc p.P94S MPV17_ENST00000380044.1_Silent_p.L105L|MPV17_ENST00000403262.2_Silent_p.L105L|MPV17_ENST00000405983.1_Silent_p.L120L|MPV17_ENST00000405076.1_Intron|MPV17_ENST00000402310.1_Silent_p.L105L|MPV17_ENST00000357186.6_Silent_p.L49L|MPV17_ENST00000233545.2_Silent_p.L105L P39210 MPV17_HUMAN MpV17 mitochondrial inner membrane protein 0 cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process integral to peroxisomal membrane|mitochondrial inner membrane lung(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTACCAGTGGGAGAAAGCAGC 0.567000 25 51 0 0 0.000878237 0 0 FAM3B 54097 broad.mit.edu 37 21 42710382 42710382 + Missense_Mutation SNP G G A rs146229700 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr21:42710382G>A ENST00000398652.3 + 4 424 c.358G>A c.(358-360)Gga>Aga p.G120R FAM3B_ENST00000357985.2_Missense_Mutation_p.G81R|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Missense_Mutation_p.G104R|FAM3B_ENST00000398647.3_Missense_Mutation_p.G33R P58499 FAM3B_HUMAN family with sequence similarity 3, member B 81 apoptosis|insulin secretion extracellular space cytokine activity central_nervous_system(2)|endometrium(1)|lung(2) 5 Prostate(19;1.57e-07)|all_epithelial(19;0.0404) GTTACTCAGCGGAGGTGGCAG 0.458000 19 49 0 0 0.000958276 0 0 VBP1 7411 broad.mit.edu 37 X 154456711 154456711 + Silent SNP C C T rs11501 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:154456711C>T ENST00000286428.5 + 4 448 c.331C>T c.(331-333)Ctg>Ttg p.L111L VBP1_ENST00000535916.1_Silent_p.L106L NM_003372.5 NP_003363.1 P61758 PFD3_HUMAN von Hippel-Lindau binding protein 1 111 'de novo' posttranslational protein folding nucleus|prefoldin complex unfolded protein binding NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GGCAGATAACCTGTATTGCAA 0.398000 56 126 0 0 0.000781405 0 0 PRUNE2 158471 broad.mit.edu 37 9 79323953 79323953 + Nonsense_Mutation SNP G G C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:79323953G>C ENST00000428286.1 - 8 3360 c.2160C>G c.(2158-2160)taC>taG p.Y720* PRUNE2_ENST00000376718.3_Nonsense_Mutation_p.Y1079* Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1079 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TGGGGTCGTCGTAACTGGACT 0.517000 37 29 0 0 0.000509022 0 0 ZNF146 7705 broad.mit.edu 37 19 36728168 36728168 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:36728168G>A ENST00000456324.1 + 3 2275 c.826G>A c.(826-828)Gct>Act p.A276T ZNF146_ENST00000443387.2_Missense_Mutation_p.A276T|ZNF565_ENST00000355114.5_Intron NM_001099638.1|NM_001099639.1 NP_001093108.1|NP_001093109.1 Q15072 OZF_HUMAN zinc finger protein 146 276 Interaction with TERF2IP. regulation of transcription, DNA-dependent cytoplasm|nucleolus DNA binding|heparin binding|zinc ion binding kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Esophageal squamous(110;0.162) ATGTGGGAAAGCTTTCAGCCA 0.403000 15 33 0 0 0.000219431 0 0 SLC9A1 6548 broad.mit.edu 37 1 27434230 27434230 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:27434230G>A ENST00000263980.3 - 4 1766 c.1191C>T c.(1189-1191)ttC>ttT p.F397F SLC9A1_ENST00000374086.3_Silent_p.F397F|SLC9A1_ENST00000545949.1_Silent_p.F58F NM_003047.4 NP_003038.2 P19634 SL9A1_HUMAN solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 397 regulation of pH integral to membrane sodium:hydrogen antiporter activity central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) AGACGCCGAGGAAGATGAAGA 0.607000 6 9 0 0 0.000157383 0 0 PRG4 10216 broad.mit.edu 37 1 186276363 186276363 + Silent SNP G G A rs113621509 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:186276363G>A ENST00000445192.2 + 7 1557 c.1512G>A c.(1510-1512)aaG>aaA p.K504K PRG4_ENST00000367483.4_Silent_p.K463K|PRG4_ENST00000367486.3_Silent_p.K461K|PRG4_ENST00000367485.4_Silent_p.K411K|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 504 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CCACTCCCAAGGAGCCTGCAC 0.647000 13 30 0 0 0.000151284 0 0 PDZD2 23037 broad.mit.edu 37 5 32058184 32058184 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:32058184C>T ENST00000438447.1 + 12 2563 c.2175C>T c.(2173-2175)atC>atT p.I725I PDZD2_ENST00000282493.3_Silent_p.I725I O15018 PDZD2_HUMAN PDZ domain containing 2 725 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AGGACAGGATCGTCATGGAAG 0.483000 16 22 0 0 0.00152264 0 0 ABCA13 154664 broad.mit.edu 37 7 48308582 48308582 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:48308582C>T ENST00000435803.1 + 16 2035 c.2011C>T c.(2011-2013)Cct>Tct p.P671S NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 671 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 TTTAGCTTTTCCTGAGGAATC 0.289000 24 16 0 0 0.00047179 0 0 BEND7 222389 broad.mit.edu 37 10 13522979 13522979 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:13522979G>A ENST00000341083.3 - 6 1123 c.827C>T c.(826-828)tCc>tTc p.S276F BEND7_ENST00000396898.2_Missense_Mutation_p.S341F|BEND7_ENST00000396900.2_Missense_Mutation_p.S328F|BEND7_ENST00000378605.3_Missense_Mutation_p.S289F NM_152751.2 NP_689964.2 Q8N7W2 BEND7_HUMAN BEN domain containing 7 328 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 ATTGGGTAAGGAGTTAGCCAA 0.423000 44 20 0 0 0.000680045 0 0 INHBC 3626 broad.mit.edu 37 12 57843541 57843541 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:57843541C>T ENST00000309668.2 + 2 922 c.795C>T c.(793-795)atC>atT p.I265I INHBC_ENST00000550133.1_Intron NM_005538.2 NP_005529.1 P55103 INHBC_HUMAN inhibin, beta C 265 growth extracellular region growth factor activity|hormone activity|transforming growth factor beta receptor binding breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1) 16 ACGACTGGATCATCCAGCCTG 0.552000 8 36 0 0 0.000442599 0 0 TPTE 7179 broad.mit.edu 37 21 10973727 10973727 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr21:10973727C>T ENST00000298232.7 - 4 374 c.7G>A c.(7-9)Gaa>Aaa p.E3K TPTE_ENST00000342420.5_Missense_Mutation_p.E3K|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.E3K NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 3 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACTCACCTTTCATTCATACGT 0.373000 20 77 0 0 0.00152264 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42298225 42298225 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:42298225C>T ENST00000399518.3 - 4 974 c.488G>A c.(487-489)cGa>cAa p.R163Q PLA2G4E_ENST00000413860.2_Missense_Mutation_p.R134Q NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 145 phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) GGTTTTCTTTCGGAAACAGAG 0.507000 14 39 0 0 0.000151284 0 0 ZNF749 388567 broad.mit.edu 37 19 57955450 57955450 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:57955450C>T ENST00000334181.4 + 3 1184 c.934C>T c.(934-936)Cat>Tat p.H312Y AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 312 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) TACACAGGCTCATCTGGTTGG 0.438000 20 36 0 0 0.000229342 0 0 SHD 56961 broad.mit.edu 37 19 4288268 4288268 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:4288268G>A ENST00000543264.2 + 5 2208 c.745G>A c.(745-747)Gat>Aat p.D249N SHD_ENST00000600475.1_3'UTR|SHD_ENST00000599689.1_Intron NM_020209.3 NP_064594.3 Q96IW2 SHD_HUMAN Src homology 2 domain containing transforming protein D 249 SH2. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1) 14 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18) GAACAGGGCGGATGCAGAGAG 0.572000 12 23 0 0 0.000219431 0 0 GPR42 2866 broad.mit.edu 37 19 35862804 35862804 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:35862804C>T ENST00000454971.1 + 2 744 c.543C>T c.(541-543)ctC>ctT p.L181L GPR42_ENST00000597214.1_Silent_p.L181L G protein-coupled receptor 42 (gene/pseudogene) endometrium(1)|kidney(1)|skin(2) 4 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) TAGCCATCCTCCTGCCCGTGC 0.607000 9 7 0 0 0.000978159 0 0 CORO2A 7464 broad.mit.edu 37 9 100897142 100897142 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:100897142C>T ENST00000343933.5 - 4 671 c.414G>A c.(412-414)gtG>gtA p.V138V CORO2A_ENST00000375077.4_Silent_p.V138V NM_003389.3 NP_003380.3 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 138 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) GGTGCCACTCCACCAGGCCTA 0.592000 14 12 0 0 0.000422831 0 0 DUSP3 1845 broad.mit.edu 37 17 41847063 41847063 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:41847063G>A ENST00000226004.3 - 3 535 c.472C>T c.(472-474)Cgt>Tgt p.R158C DUSP3_ENST00000397937.2_Missense_Mutation_p.R117C NM_004090.3 NP_004081.1 P51452 DUS3_HUMAN dual specificity phosphatase 3 158 Tyrosine-protein phosphatase. inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|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 cytosol|immunological synapse|nucleoplasm MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 7 Breast(137;0.00725) BRCA - Breast invasive adenocarcinoma(366;0.116) CCGATCTCACGGTTCTGCCTC 0.592000 11 33 0 0 0.00136819 0 0 TDP1 55775 broad.mit.edu 37 14 90509426 90509426 + Missense_Mutation SNP T T G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:90509426T>G ENST00000335725.4 + 17 2016 c.1766T>G c.(1765-1767)aTa>aGa p.I589R TDP1_ENST00000555880.1_Missense_Mutation_p.Y553D|TDP1_ENST00000357382.3_Missense_Mutation_p.I350R|TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000393454.2_Missense_Mutation_p.I589R NM_018319.3 NP_060789.2 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 589 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) CGGCCATGGATATGGAACATT 0.413000 Repair of DNA-protein crosslinks 36 54 0 0 0.00111076 0 0 NAV2 89797 broad.mit.edu 37 11 19955420 19955420 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:19955420C>T ENST00000396085.1 + 7 1991 c.1630C>T c.(1630-1632)Ccc>Tcc p.P544S NAV2_ENST00000396087.3_Missense_Mutation_p.P567S|NAV2_ENST00000349880.4_Missense_Mutation_p.P544S|NAV2_ENST00000360655.4_Missense_Mutation_p.P480S|NAV2_ENST00000540292.1_Missense_Mutation_p.P498S|NAV2_ENST00000527559.2_Missense_Mutation_p.P496S NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 567 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CAGCTTCATCCCCAAAGGGGG 0.562000 25 8 0 0 0.00127121 0 0 RBM42 79171 broad.mit.edu 37 19 36123881 36123881 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:36123881C>T ENST00000262633.4 + 5 591 c.486C>T c.(484-486)gtC>gtT p.V162V RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589871.1_Intron|RBM42_ENST00000589559.1_Intron|RBM42_ENST00000588161.1_Intron|RBM42_ENST00000360475.4_Intron|RBM42_ENST00000592202.1_Intron NM_024321.3 NP_077297.2 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 162 cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CAGCCTTCGTCCCCCACGTGC 0.632000 22 30 0 0 0.000586117 0 0 SEMA3F 6405 broad.mit.edu 37 3 50223737 50223737 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:50223737G>A ENST00000002829.3 + 17 2253 c.1769G>A c.(1768-1770)cGg>cAg p.R590Q SEMA3F_ENST00000413852.1_Missense_Mutation_p.R491Q|SEMA3F_ENST00000434342.1_Missense_Mutation_p.R559Q NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 590 axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) CAGGACGTCCGGCACGGAAAC 0.637000 15 17 0 0 0.00121646 0 0 AP5Z1 9907 broad.mit.edu 37 7 4830963 4830963 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:4830963C>T ENST00000348624.4 + 17 2465 c.2371C>T c.(2371-2373)Ctg>Ttg p.L791L AP5Z1_ENST00000490487.1_3'UTR NM_014855.2 NP_055670.1 O43299 K0415_HUMAN adaptor-related protein complex 5, zeta 1 subunit 791 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding GCCCCTGGCCCTGCGCACGGT 0.672000 5 7 0 0 0.00116845 0 0 SEC23A 10484 broad.mit.edu 37 14 39536465 39536465 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:39536465G>A ENST00000537403.1 - 6 1735 c.533C>T c.(532-534)tCc>tTc p.S178F SEC23A_ENST00000545328.2_Missense_Mutation_p.S351F|SEC23A_ENST00000307712.6_Missense_Mutation_p.S380F|SEC23A_ENST00000536508.1_Missense_Mutation_p.S254F Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 380 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) TTTGAATAAGGAAGTATTGAA 0.358000 22 60 0 0 0.000295444 0 0 KCNU1 157855 broad.mit.edu 37 8 36793288 36793288 + Silent SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:36793288T>A ENST00000399881.3 + 27 3337 c.3300T>A c.(3298-3300)tcT>tcA p.S1100S NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 1100 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ACTCCCTCTCTTTTCCTAAGC 0.373000 58 119 0 0 0.000781405 0 0 OR7D4 125958 broad.mit.edu 37 19 9325046 9325046 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:9325046G>A ENST00000308682.2 - 1 496 c.468C>T c.(466-468)tcC>tcT p.S156S NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 TATGAACCAGGGAGAACCAGA 0.527000 14 45 0 0 0.000219431 0 0 SRCAP 10847 broad.mit.edu 37 16 30750282 30750282 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:30750282C>T ENST00000262518.4 + 34 9306 c.8921C>T c.(8920-8922)cCc>cTc p.P2974L SRCAP_ENST00000395059.2_Missense_Mutation_p.P2912L|SRCAP_ENST00000344771.4_Missense_Mutation_p.P2816L NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2974 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CACCCATCACCCCTAACCCCA 0.577000 15 11 0 0 0.000566183 0 0 C6 729 broad.mit.edu 37 5 41150037 41150037 + Splice_Site SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:41150037C>T ENST00000263413.3 - 16 2645 c.2381_splice c.e16+1 p.S794_splice C6_ENST00000337836.5_Splice_Site_p.S794_splice NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 794 C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TATCTCTTACCTACAGTCTTC 0.393000 17 30 0 0 0.000958276 0 0 C1orf168 199920 broad.mit.edu 37 1 57258437 57258437 + Nonsense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:57258437G>A ENST00000343433.6 - 2 129 c.49C>T c.(49-51)Caa>Taa p.Q17* C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 17 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TCAAGATTTTGAAATTTGGCT 0.388000 84 174 0 0 0.000781405 0 0 BRAP 8315 broad.mit.edu 37 12 112121037 112121037 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:112121037G>A ENST00000419234.4 - 2 350 c.157C>T c.(157-159)Cca>Tca p.P53S BRAP_ENST00000327551.6_Missense_Mutation_p.P23S NM_006768.3 NP_006759.3 Q7Z569 BRAP_HUMAN BRCA1 associated protein 53 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 20 TTCTCTCCTGGTGACTTGCCT 0.443000 56 95 0 0 0.000781405 0 0 MCL1 4170 broad.mit.edu 37 1 150551360 150551360 + Missense_Mutation SNP A A C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:150551360A>C ENST00000369026.2 - 1 706 c.647T>G c.(646-648)gTt>gGt p.V216G MCL1_ENST00000307940.3_Missense_Mutation_p.V216G NM_001197320.1|NM_021960.4 NP_001184249.1|NP_068779.1 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 (BCL2-related) 216 anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity endometrium(2)|large_intestine(1)|lung(4)|prostate(1) 8 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCCATCCCCAACCCGTCGTAA 0.617000 11 34 0 0 0.000978159 0 0 KLRC3 3823 broad.mit.edu 37 12 10569321 10569321 + Missense_Mutation SNP G G A rs138941727 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:10569321G>A ENST00000396439.2 - 5 576 c.532C>T c.(532-534)Cgt>Tgt p.R178C KLRC3_ENST00000381904.2_Missense_Mutation_p.R178C|KLRC3_ENST00000381903.2_Missense_Mutation_p.R178C|NKG2-E_ENST00000539033.1_Missense_Mutation_p.R178C NM_002261.2 NP_002252.2 killer cell lectin-like receptor subfamily C, member 3 p.R178C(1) large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 CTGCTGTTACGAAACACACCA 0.294000 19 30 0 0 0.000339439 0 0 ZNF17 7565 broad.mit.edu 37 19 57931998 57931998 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:57931998C>T ENST00000307658.7 + 4 1407 c.1144C>T c.(1144-1146)Cat>Tat p.H382Y ZNF17_ENST00000601808.1_Missense_Mutation_p.H380Y|AC004076.7_ENST00000597410.1_Intron P17021 ZNF17_HUMAN zinc finger protein 17 380 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) CCAGAGAGTTCATACTGGAGA 0.398000 39 56 0 0 0.000374591 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135862953 135862953 + Missense_Mutation SNP A A C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:135862953A>C ENST00000250617.6 - 1 1294 c.89T>G c.(88-90)tTt>tGt p.F30C NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 30 CH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) GGACTTTAAAAACTCCTCCGG 0.433000 56 104 0 0 0.000781405 0 0 CEACAM16 388551 broad.mit.edu 37 19 45211244 45211244 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:45211244A>T ENST00000587331.1 + 6 1267 c.1052A>T c.(1051-1053)tAc>tTc p.Y351F CEACAM16_ENST00000405314.2_Missense_Mutation_p.Y351F|CTB-171A8.1_ENST00000590796.1_RNA NM_001039213.2 NP_001034302.2 A7LI12 A7LI12_HUMAN carcinoembryonic antigen-related cell adhesion molecule 16 351 endometrium(3)|large_intestine(2)|lung(3)|ovary(1) 9 Lung NSC(12;0.000698)|all_lung(12;0.002) Prostate(69;0.0376)|Ovarian(192;0.231) TACGCCTGGTACCGCGGGCCT 0.692000 16 63 0 0 0.000958276 0 0 MCF2 4168 broad.mit.edu 37 X 138669893 138669893 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:138669893G>A ENST00000520602.1 - 25 2969 c.2684C>T c.(2683-2685)tCt>tTt p.S895F MCF2_ENST00000370573.4_Missense_Mutation_p.S835F|MCF2_ENST00000370578.4_Missense_Mutation_p.S980F|MCF2_ENST00000536274.1_Missense_Mutation_p.S796F|MCF2_ENST00000338585.6_Missense_Mutation_p.S851F|MCF2_ENST00000519895.1_Missense_Mutation_p.S911F|MCF2_ENST00000370576.4_Missense_Mutation_p.S835F|MCF2_ENST00000414978.1_Missense_Mutation_p.S895F P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 835 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) CTGCTGAAGAGAAATCTGAAA 0.303000 48 80 0 0 0.000781405 0 0 IGKV1-16 28938 broad.mit.edu 37 2 89399622 89399622 + RNA SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:89399622G>A ENST00000479981.1 - 0 107 ATGGAGACTGGGTCATCTGGA 0.438000 43 69 0 0 0.000781405 0 0 CDH17 1015 broad.mit.edu 37 8 95186178 95186178 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:95186178C>T ENST00000027335.3 - 7 754 c.630G>A c.(628-630)gtG>gtA p.V210V CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.V210V NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 210 Cadherin 2. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TCACTGAGATCACCAGATTAT 0.443000 20 27 0 0 0.00152264 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54676196 54676196 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:54676196C>T ENST00000474759.1 + 11 1143 c.1095C>T c.(1093-1095)atC>atT p.I365I CACNA2D3_ENST00000490478.1_Silent_p.I271I|CACNA2D3_ENST00000415676.2_Silent_p.I365I|CACNA2D3_ENST00000288197.5_Silent_p.I365I NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 365 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) GTCAGGCCATCATGCTCATAA 0.428000 16 8 0 0 0.00121646 0 0 A2ML1 144568 broad.mit.edu 37 12 8982357 8982357 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:8982357C>T ENST00000299698.7 + 4 624 c.444C>T c.(442-444)ttC>ttT p.F148F A2ML1-AS1_ENST00000537288.1_RNA NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 0 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 ATAGCAACTTCGTTCCAGTGA 0.458000 43 71 0 0 0.000680045 0 0 PIGO 84720 broad.mit.edu 37 9 35091524 35091524 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:35091524G>A ENST00000378617.3 - 7 2754 c.2360C>T c.(2359-2361)cCc>cTc p.P787L PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.P787L NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 787 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TTGAGAAGTGGGGGGGCCTGA 0.607000 22 13 0 0 0.00047179 0 0 BDP1 55814 broad.mit.edu 37 5 70855835 70855835 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:70855835T>A ENST00000358731.4 + 37 7530 c.7267T>A c.(7267-7269)Ttt>Att p.F2423I BDP1_ENST00000380675.2_3'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 2423 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) ACAAGATATTTTTCTTACCTC 0.408000 23 35 0 0 0.000720815 0 0 PCLO 27445 broad.mit.edu 37 7 82544905 82544905 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:82544905G>A ENST00000423517.2 - 7 12734 c.12397C>T c.(12397-12399)Cgt>Tgt p.R4133C PCLO_ENST00000333891.8_Missense_Mutation_p.R4133C|PCLO_ENST00000437081.1_Missense_Mutation_p.R853C NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4064 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTCCCTCTACGAAATTCCTGT 0.408000 60 47 0 0 0.000781405 0 0 ARAP1 116985 broad.mit.edu 37 11 72422129 72422129 + Missense_Mutation SNP C C A rs140120181 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:72422129C>A ENST00000359373.5 - 9 2001 c.1150G>T c.(1150-1152)Ggg>Tgg p.G384W ARAP1_ENST00000393609.3_Missense_Mutation_p.G384W|ARAP1_ENST00000393605.3_Missense_Mutation_p.G144W|ARAP1_ENST00000334211.8_Missense_Mutation_p.G139W|ARAP1_ENST00000429686.1_Missense_Mutation_p.G139W|ARAP1_ENST00000455638.2_Missense_Mutation_p.G384W|ARAP1_ENST00000426523.1_Missense_Mutation_p.G139W Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 384 PH 1. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 TTCTGGTCCCCGATGGCAGCC 0.542000 7 233 0.000673444 0.00376357 0.000673444 1 0 HIST2H2BF 440689 broad.mit.edu 37 1 149783859 149783859 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:149783859G>A ENST00000427880.2 - 1 66 c.20C>T c.(19-21)tCc>tTc p.S7F HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.S7F|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.S7F Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf 7 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) AGCAGGAGCGGATTTCGCTGG 0.502000 37 72 0 0 0.000781405 0 0 ELK1 2002 broad.mit.edu 37 X 47500833 47500833 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:47500833G>A ENST00000247161.3 - 2 107 c.8C>T c.(7-9)cCa>cTa p.P3L ELK1_ENST00000343894.4_Missense_Mutation_p.P3L|ELK1_ENST00000592066.1_5'UTR|ELK1_ENST00000376983.3_Missense_Mutation_p.P3L NM_005229.4 NP_005220.2 P19419 ELK1_HUMAN ELK1, member of ETS oncogene family 3 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|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 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2) 10 CGTCACAGATGGGTCCATCGC 0.587000 3 8 0 0 6.4e-05 0 0 HEATR5B 54497 broad.mit.edu 37 2 37234374 37234374 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:37234374G>A ENST00000233099.5 - 29 4691 c.4596C>T c.(4594-4596)ctC>ctT p.L1532L HEATR5B_ENST00000354531.2_Silent_p.L1532L NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1532 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) CCACCGCATGGAGAATTGGGG 0.408000 31 63 0 0 0.000692331 0 0 KLRC1 3821 broad.mit.edu 37 12 10599208 10599208 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:10599208C>T ENST00000544822.1 - 8 1031 c.644G>A c.(643-645)cGa>cAa p.R215Q KLRC1_ENST00000359151.3_Missense_Mutation_p.R215Q|KLRC1_ENST00000347831.5_Missense_Mutation_p.R197Q|KLRC1_ENST00000536188.1_Missense_Mutation_p.R215Q|KLRC1_ENST00000408006.3_Missense_Mutation_p.R197Q NM_213658.2 NP_998823.1 P26715 NKG2A_HUMAN killer cell lectin-like receptor subfamily C, member 1 215 C-type lectin. cell surface receptor linked signaling pathway|regulation of immune response integral to plasma membrane sugar binding|transmembrane receptor activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 TGATTTAAGTCGATTTACTTG 0.333000 31 83 0 0 0.00128727 0 0 KIAA0355 9710 broad.mit.edu 37 19 34843722 34843722 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:34843722C>T ENST00000299505.6 + 14 3948 c.3075C>T c.(3073-3075)gaC>gaT p.D1025D AC010504.2_ENST00000591311.1_RNA NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 1025 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) CAACCAACGACTGCAGTGCCG 0.652000 4 5 0 0 0.00024832 0 0 COL11A2 1302 broad.mit.edu 37 6 33135229 33135229 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:33135229C>T ENST00000341947.2 - 56 4323 c.4096G>A c.(4096-4098)Ggt>Agt p.G1366S COL11A2_ENST00000374714.1_Missense_Mutation_p.G1340S|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1306S|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1285S|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1345S|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1319S|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1259S|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1280S|COL11A2_ENST00000477772.1_Intron NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1366 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCCCTCAGACCATCAGGGCCA 0.657000 10 13 0 0 0.000978159 0 0 PAN2 9924 broad.mit.edu 37 12 56715907 56715907 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:56715907G>A ENST00000425394.2 - 20 3131 c.2755C>T c.(2755-2757)Ctt>Ttt p.L919F PAN2_ENST00000440411.3_Missense_Mutation_p.L915F|PAN2_ENST00000257931.5_Missense_Mutation_p.L918F|PAN2_ENST00000548043.1_Missense_Mutation_p.L919F NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 919 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 ACATAATAAAGGATTGCAGGT 0.403000 48 77 0 0 0.000781405 0 0 AKAP9 10142 broad.mit.edu 37 7 91641942 91641942 + Missense_Mutation SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:91641942A>G ENST00000359028.2 + 10 3779 c.3554A>G c.(3553-3555)aAa>aGa p.K1185R AKAP9_ENST00000358100.2_Missense_Mutation_p.K1185R|AKAP9_ENST00000356239.3_Missense_Mutation_p.K1173R Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1185 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CAGACTATGAAAACACAAGAA 0.338000 T BRAF papillary thyroid 48 35 0 0 0.000781405 0 0 MROH2B 133558 broad.mit.edu 37 5 41061769 41061769 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:41061769G>A ENST00000399564.4 - 6 968 c.518C>T c.(517-519)cCc>cTc p.P173L NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TCTGGGGTAGGGAAAATCTCT 0.453000 30 66 0 0 0.000814825 0 0 PRDM16 63976 broad.mit.edu 37 1 3334427 3334427 + Missense_Mutation SNP G G C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:3334427G>C ENST00000378398.3 + 12 2809 c.2727G>C c.(2725-2727)gaG>gaC p.E909D PRDM16_ENST00000378391.2_Missense_Mutation_p.E909D|PRDM16_ENST00000442529.2_Missense_Mutation_p.E908D|PRDM16_ENST00000441472.2_Missense_Mutation_p.E908D|PRDM16_ENST00000514189.1_Missense_Mutation_p.E909D|PRDM16_ENST00000511072.1_Missense_Mutation_p.E910D|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Missense_Mutation_p.E909D Q9HAZ2 PRD16_HUMAN PR domain containing 16 909 Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) AGAAGCTGGAGAGCTTTGCAG 0.607000 T EVI1 """MDS, AML""" 51 78 0 0 0.000781405 0 0 PLCH1 23007 broad.mit.edu 37 3 155215185 155215185 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:155215185G>A ENST00000460012.1 - 15 2085 c.1728C>T c.(1726-1728)acC>acT p.T576T PLCH1_ENST00000340059.7_Silent_p.T594T|PLCH1_ENST00000447496.2_Silent_p.T594T|PLCH1_ENST00000414191.1_Silent_p.T576T|PLCH1_ENST00000334686.6_Silent_p.T576T|PLCH1_ENST00000494598.1_Silent_p.T594T Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 594 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGAGCTTCATGGTTTTCCTTC 0.468000 28 59 0 0 0.00178596 0 0 ZNF664 144348 broad.mit.edu 37 12 124497283 124497283 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:124497283C>T ENST00000539644.1 + 6 2422 c.592C>T c.(592-594)Ccc>Tcc p.P198S ZNF664_ENST00000337815.4_Missense_Mutation_p.P198S|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000392404.3_Missense_Mutation_p.P198S|ZNF664_ENST00000538932.2_Missense_Mutation_p.P198S Q8N3J9 ZN664_HUMAN zinc finger protein 664 198 P -> H (in Ref. 4; AAH51696). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(5)|lung(6)|skin(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249) TGGAGAGAAACCCTATAGATG 0.498000 24 35 0 0 0.00047179 0 0 KIAA1024 23251 broad.mit.edu 37 15 79755596 79755596 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:79755596C>T ENST00000305428.3 + 3 2561 c.2486C>T c.(2485-2487)tCt>tTt p.S829F NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 829 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 GGCCAACCTTCTTGGACCATT 0.627000 38 43 0 0 0.00148497 0 0 LRRC4B 94030 broad.mit.edu 37 19 51022446 51022446 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:51022446G>A ENST00000599957.1 - 3 721 c.524C>T c.(523-525)tCc>tTc p.S175F LRRC4B_ENST00000389201.3_Missense_Mutation_p.S175F Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 175 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GAAGGCGTAGGAGGGGATGCT 0.657000 14 22 0 0 0.000308642 0 0 MXRA5 25878 broad.mit.edu 37 X 3248289 3248289 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:3248289C>T ENST00000217939.6 - 4 633 c.479G>A c.(478-480)gGa>gAa p.G160E NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 160 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GAGGAGATTTCCTTCCAAATG 0.468000 13 24 0 0 0.000308642 0 0 TPR 7175 broad.mit.edu 37 1 186313130 186313130 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:186313130G>A ENST00000367478.3 - 26 3806 c.3510C>T c.(3508-3510)gtC>gtT p.V1170V NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1170 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CAGAGGCAACGACCTTGTCAC 0.388000 T NTRK1 papillary thyroid 19 40 0 0 0.00074312 0 0 APMAP 57136 broad.mit.edu 37 20 24959506 24959506 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:24959506G>A ENST00000217456.2 - 3 515 c.225C>T c.(223-225)ccC>ccT p.P75P APMAP_ENST00000447138.1_Silent_p.P75P NM_020531.2 NP_065392.1 adipocyte plasma membrane associated protein GCAAGAGCGGGGGTTCTTTGA 0.433000 26 33 0 0 0.000720815 0 0 FAM135B 51059 broad.mit.edu 37 8 139263157 139263157 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:139263157C>T ENST00000395297.1 - 6 639 c.469G>A c.(469-471)Gac>Aac p.D157N NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 157 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGGAAATAGTCGAACATGACC 0.592000 HNSCC(54;0.14) 53 58 0 0 0.000781405 0 0 WAS 7454 broad.mit.edu 37 X 48542280 48542280 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:48542280G>A ENST00000376701.4 + 1 113 c.38G>A c.(37-39)cGa>cAa p.R13Q WAS_ENST00000483750.1_3'UTR NM_000377.2 NP_000368.1 P42768 WASP_HUMAN Wiskott-Aldrich syndrome 13 blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(315;1.27e-10) CCCGGGGGCCGAGGAGCACCA 0.597000 """Mis, N, F, S""" lymphoma 14 30 0 0 0.000308642 0 0 ART3 419 broad.mit.edu 37 4 77003118 77003118 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:77003118G>A ENST00000355810.4 + 3 330 c.211G>A c.(211-213)Gaa>Aaa p.E71K ART3_ENST00000513494.1_3'UTR|ART3_ENST00000341029.5_Missense_Mutation_p.E71K|ART3_ENST00000349321.3_Missense_Mutation_p.E71K NM_001130016.2 NP_001123488.1 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 71 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1) 16 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TACTGTGTGGGAAAATGCAAA 0.413000 26 8 0 0 0.000586117 0 0 IPO5 3843 broad.mit.edu 37 13 98664589 98664589 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr13:98664589C>T ENST00000261574.5 + 21 2379 c.2199C>T c.(2197-2199)ttC>ttT p.F733F IPO5_ENST00000490680.1_Silent_p.F715F|IPO5_ENST00000539640.1_Silent_p.F590F NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 715 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 AATTTTATTTCCACGATGATA 0.368000 21 51 0 0 0.00121646 0 0 TSPYL4 23270 broad.mit.edu 37 6 116574216 116574216 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:116574216G>A ENST00000420283.1 - 1 1045 c.956C>T c.(955-957)tCc>tTc p.S319F NM_021648.4 NP_067680.3 Q9UJ04 TSYL4_HUMAN TSPY-like 4 319 nucleosome assembly nucleus endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2) 11 all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234) all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125) CCGGCCAGAGGATCTGCGTTC 0.542000 14 32 0 0 0.000958276 0 0 DDR1 780 broad.mit.edu 37 6 30860301 30860301 + Missense_Mutation SNP G G A rs147485952 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:30860301G>A ENST00000324771.8 + 10 1629 c.1081G>A c.(1081-1083)Gaa>Aaa p.E361K DDR1_ENST00000376568.3_Missense_Mutation_p.E361K|DDR1_ENST00000508312.1_Missense_Mutation_p.E379K|DDR1_ENST00000361741.4_Missense_Mutation_p.E92K|DDR1_ENST00000376570.4_Missense_Mutation_p.E361K|DDR1_ENST00000376575.3_Missense_Mutation_p.E361K|DDR1_ENST00000513240.1_Missense_Mutation_p.E361K|DDR1_ENST00000376567.2_Missense_Mutation_p.E361K|DDR1_ENST00000376569.3_Missense_Mutation_p.E361K|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000454612.2_Missense_Mutation_p.E361K|DDR1_ENST00000452441.1_Missense_Mutation_p.E361K|DDR1_ENST00000418800.2_Missense_Mutation_p.E361K Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 361 cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.E361K(2) central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) ACTCTTCAGCGAAATCTCCTT 0.567000 20 50 0 0 0.000295444 0 0 MRPS9 64965 broad.mit.edu 37 2 105713766 105713766 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:105713766C>T ENST00000258455.3 + 10 1193 c.1083C>T c.(1081-1083)gtC>gtT p.V361V AC104655.2_ENST00000432211.1_RNA|AC104655.2_ENST00000449177.1_RNA NM_182640.2 NP_872578.1 P82933 RT09_HUMAN mitochondrial ribosomal protein S9 361 DNA damage response, detection of DNA damage|translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 AGGACGAGGTCGAGTGGATGA 0.557000 7 26 0 0 8.12818e-05 0 0 ABCB1 5243 broad.mit.edu 37 7 87175237 87175237 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:87175237C>T ENST00000265724.3 - 16 2246 c.1829G>A c.(1828-1830)gGa>gAa p.G610E ABCB1_ENST00000543898.1_Missense_Mutation_p.G546E NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 610 ABC transporter 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) ATCATGATTTCCTTTCTCCAC 0.398000 23 73 0 0 0.000375601 0 0 KCTD7 154881 broad.mit.edu 37 7 66273942 66273942 + Missense_Mutation SNP C C A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:66273942C>A ENST00000380828.2 + 11 1421 c.1267C>A c.(1267-1269)Cgc>Agc p.R423S RABGEF1_ENST00000437078.2_Missense_Mutation_p.R397S|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000450873.2_Missense_Mutation_p.R383S|KCTD7_ENST00000510829.2_Missense_Mutation_p.R383S|RABGEF1_ENST00000439720.2_Missense_Mutation_p.R396S|KCTD7_ENST00000451741.2_Missense_Mutation_p.R383S|RABGEF1_ENST00000284957.5_Missense_Mutation_p.R383S Q96MP8 KCTD7_HUMAN potassium channel tetramerization domain containing 7 0 voltage-gated potassium channel complex voltage-gated potassium channel activity p.R383C(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 GGATTTTGATCGCTACATGTC 0.458000 28 52 1.75199e-13 9.93327e-13 0.00127121 1 0 CCDC102A 92922 broad.mit.edu 37 16 57562890 57562890 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:57562890C>T ENST00000258214.2 - 2 446 c.200G>A c.(199-201)gGc>gAc p.G67D NM_033212.3 NP_149989.2 Q96A19 C102A_HUMAN coiled-coil domain containing 102A 67 endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 CTCCCAGTCGCCGTCGGCCAG 0.801000 6 4 0 0 8.12818e-05 0 0 KDM2B 84678 broad.mit.edu 37 12 121986882 121986882 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:121986882G>A ENST00000377069.4 - 6 896 c.490C>T c.(490-492)Ctg>Ttg p.L164L KDM2B_ENST00000536437.1_Silent_p.L78L|KDM2B_ENST00000377071.4_Silent_p.L195L|KDM2B_ENST00000538046.2_Silent_p.L195L NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 195 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CAGTCCACCAGGTCTACCTGA 0.562000 17 24 0 0 0.000958276 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68251080 68251080 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:68251080G>A ENST00000347230.4 - 20 3735 c.3597C>T c.(3595-3597)ctC>ctT p.L1199L ZFYVE26_ENST00000555452.1_Silent_p.L1199L NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1199 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TCTCAAACAGGAGATGTGACA 0.488000 71 133 0 0 0.000781405 0 0 PTCH1 5727 broad.mit.edu 37 9 98231211 98231211 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:98231211G>A ENST00000430669.2 - 14 2459 c.1874C>T c.(1873-1875)aCc>aTc p.T625I PTCH1_ENST00000437951.1_Missense_Mutation_p.T625I|PTCH1_ENST00000375274.2_Missense_Mutation_p.T690I|PTCH1_ENST00000429896.2_Missense_Mutation_p.T540I|PTCH1_ENST00000421141.1_Missense_Mutation_p.T540I|PTCH1_ENST00000418258.1_Missense_Mutation_p.T540I|PTCH1_ENST00000331920.6_Missense_Mutation_p.T691I Q13635 PTC1_HUMAN patched 1 691 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.T691I(1) NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CTGTGTCACGGTGACGGGCTG 0.642000 17 11 0 0 0.000566183 0 0 CDK5R2 8941 broad.mit.edu 37 2 219825368 219825368 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:219825368G>A ENST00000302625.4 + 1 992 c.826G>A c.(826-828)Gag>Aag p.E276K AC097468.7_ENST00000429343.1_RNA NM_003936.4 NP_003927.1 Q13319 CD5R2_HUMAN cyclin-dependent kinase 5, regulatory subunit 2 (p39) 276 regulation of cyclin-dependent protein kinase activity cyclin-dependent protein kinase 5 holoenzyme complex cyclin-dependent protein kinase 5 activator activity central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 8 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CATGGGCAACGAGATCTCCTA 0.677000 41 68 0 0 0.00148497 0 0 HOXB8 3218 broad.mit.edu 37 17 46691682 46691682 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:46691682G>A ENST00000239144.4 - 1 619 c.385C>T c.(385-387)Ccg>Tcg p.P129S HOXB7_ENST00000567101.1_Intron|HOXB8_ENST00000576562.1_Missense_Mutation_p.P129S NM_024016.3 NP_076921.1 P17481 HXB8_HUMAN homeobox B8 129 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(8)|urinary_tract(2) 11 GTGGGCGACGGGCTCTGCTCG 0.711000 4 10 0 0 0.00024832 0 0 FSIP2 401024 broad.mit.edu 37 2 186673690 186673690 + Missense_Mutation SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:186673690A>G ENST00000343098.5 + 17 19924 c.19924A>G c.(19924-19926)Aaa>Gaa p.K6642E FSIP2_ENST00000424728.1_Missense_Mutation_p.K6553E NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 ACCTCTTGAGAAACTTAAGCA 0.338000 22 15 0 0 0.000229342 0 0 PDIA3 2923 broad.mit.edu 37 15 44062493 44062493 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:44062493G>A ENST00000300289.5 + 11 1460 c.1312G>A c.(1312-1314)Gcc>Acc p.A438T PDIA3_ENST00000538521.1_Missense_Mutation_p.A418T NM_005313.4 NP_005304.3 P30101 PDIA3_HUMAN protein disulfide isomerase family A, member 3 438 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction endoplasmic reticulum lumen|melanosome cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1) 17 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) GGATGCCACAGCCAATGATGT 0.398000 14 33 0 0 0.000566183 0 0 FBXL19 54620 broad.mit.edu 37 16 30939897 30939897 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:30939897C>T ENST00000338343.4 + 6 1124 c.737C>T c.(736-738)cCg>cTg p.P246L FBXL19_ENST00000380310.2_Missense_Mutation_p.P266L|FBXL19_ENST00000565690.1_Intron|FBXL19_ENST00000562319.1_Missense_Mutation_p.P246L|FBXL19_ENST00000471231.2_5'UTR Q6PCT2 FXL19_HUMAN F-box and leucine-rich repeat protein 19 266 Pro-rich. DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 GTTCTGAATCCGAGCCAGGCT 0.692000 4 7 0 0 0.00116845 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156638326 156638326 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:156638326G>A ENST00000296518.7 + 8 1797 c.1588G>A c.(1588-1590)Gat>Aat p.D530N GUCY1A3_ENST00000393832.3_Missense_Mutation_p.D272N|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.D530N|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.D530N|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.D530N|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.D530N|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.D530N Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 530 Guanylate cyclase. GDAYCVA -> AMPIVWL (in Ref. 1; CAA47145). blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GACCATTGGCGATGCCTATTG 0.408000 23 14 0 0 0.00127121 0 0 POLE 5426 broad.mit.edu 37 12 133249242 133249242 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:133249242G>A ENST00000320574.5 - 15 1700 c.1657C>T c.(1657-1659)Cgc>Tgc p.R553C POLE_ENST00000535270.1_Missense_Mutation_p.R526C NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 553 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) ATATCGCTGCGGAAAACCCCA 0.587000 DNA polymerases (catalytic subunits) 27 40 0 0 0.00178596 0 0 ARHGDIA 396 broad.mit.edu 37 17 79827439 79827439 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:79827439G>A ENST00000269321.7 - 3 388 c.253C>T c.(253-255)Ccc>Tcc p.P85S ARHGDIA_ENST00000580685.1_Missense_Mutation_p.P85S|ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000584461.1_Missense_Mutation_p.P85S|ARHGDIA_ENST00000541078.2_Missense_Mutation_p.P85S|ARHGDIA_ENST00000400721.4_Missense_Mutation_p.P85S NM_001185078.1|NM_004309.4 NP_001172007.1|NP_004300.1 P52565 GDIR1_HUMAN Rho GDP dissociation inhibitor (GDI) alpha 85 anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytoskeleton|cytosol GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity endometrium(1)|lung(1)|prostate(1) 3 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) AGCTCCAGGGGGCCCGGGGCC 0.746000 4 7 0 0 0.00024832 0 0 MUC16 94025 broad.mit.edu 37 19 9056878 9056878 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:9056878G>A ENST00000397910.4 - 3 30771 c.30568C>T c.(30568-30570)Cct>Tct p.P10190S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10192 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGGACCCAGGAGAAGAAGGT 0.453000 32 36 0 0 0.000491102 0 0 TTN 7273 broad.mit.edu 37 2 179580319 179580319 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:179580319C>T ENST00000589042.1 - 89 26046 c.25822G>A c.(25822-25824)Gaa>Aaa p.E8608K TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E7364K|TTN_ENST00000591111.1_Missense_Mutation_p.E8291K|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8291 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) TTGTGCATTTCCAGCACAGCC 0.458000 15 35 0 0 0.000308642 0 0 TRPM6 140803 broad.mit.edu 37 9 77343228 77343228 + Missense_Mutation SNP C C A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:77343228C>A ENST00000451710.3 - 37 6111 c.5874G>T c.(5872-5874)ttG>ttT p.L1958F TRPM6_ENST00000449912.2_Missense_Mutation_p.L1949F|TRPM6_ENST00000376871.3_Missense_Mutation_p.L791F|TRPM6_ENST00000361255.3_Missense_Mutation_p.L1949F|TRPM6_ENST00000376872.3_Missense_Mutation_p.L909F|TRPM6_ENST00000360774.1_Missense_Mutation_p.L1954F Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1954 Alpha-type protein kinase. response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CATCTTCCCCCAAATTGGCCG 0.423000 12 13 0.000978159 0.00545416 0.000978159 1 0 PCDHA10 56139 broad.mit.edu 37 5 140236204 140236204 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:140236204C>T ENST00000307360.5 + 1 571 c.571C>T c.(571-573)Cca>Tca p.P191S PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.P191S|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_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) AGACAAATTCCCAGTGCTTGT 0.403000 37 45 0 0 0.000814825 0 0 ATN1 1822 broad.mit.edu 37 12 7043347 7043347 + Missense_Mutation SNP G G T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:7043347G>T ENST00000356654.4 + 3 273 c.36G>T c.(34-36)atG>atT p.M12I ATN1_ENST00000396684.2_Missense_Mutation_p.M12I NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 12 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 AGATGTCAATGAGGAGTGGAC 0.537000 11 28 4.68919e-08 2.65256e-07 0.000673444 1 0 TRAF2 7186 broad.mit.edu 37 9 139815663 139815663 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:139815663C>T ENST00000359662.3 + 9 1335 c.1290C>T c.(1288-1290)tcC>tcT p.S430S TRAF2_ENST00000247668.2_Silent_p.S378S|TRAF2_ENST00000536468.1_Silent_p.S378S Q12933 TRAF2_HUMAN TNF receptor-associated factor 2 378 MATH. activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.229) OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06) CCATCTTCTCCCCAGGTGTGG 0.602000 12 6 0 0 0.000219431 0 0 ZNFX1 57169 broad.mit.edu 37 20 47887289 47887289 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:47887289G>A ENST00000396105.1 - 3 1306 c.1060C>T c.(1060-1062)Cgc>Tgc p.R354C ZNFX1_ENST00000371754.4_Missense_Mutation_p.R354C|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R354C NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 354 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) ATATTGGGGCGAAGGAAGGGC 0.502000 46 97 0 0 0.000781405 0 0 NPY1R 4886 broad.mit.edu 37 4 164247362 164247362 + Missense_Mutation SNP C C A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:164247362C>A ENST00000296533.2 - 2 876 c.345G>T c.(343-345)ttG>ttT p.L115F NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 115 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CAAAAGGATTCAACTTACACA 0.443000 10 9 1.58986e-06 8.97293e-06 0.000673444 1 0 SIDT1 54847 broad.mit.edu 37 3 113342554 113342554 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:113342554T>A ENST00000264852.4 + 23 3007 c.2281T>A c.(2281-2283)Ttc>Atc p.F761I SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.F766I NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 761 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 CCTATATTTTTTCTTCCAGAA 0.532000 38 51 0 0 0.000374591 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913641 77913641 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:77913641C>T ENST00000321110.1 - 2 572 c.277G>A c.(277-279)Gat>Aat p.D93N NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 93 Pro-rich. nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 GGTAGAAGATCCTGTGGCTCT 0.647000 7 15 0 0 0.000157383 0 0 SALL3 27164 broad.mit.edu 37 18 76754644 76754644 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr18:76754644G>A ENST00000536229.3 + 1 2963 c.2254G>A c.(2254-2256)Gac>Aac p.D752N SALL3_ENST00000537592.2_Missense_Mutation_p.D885N|SALL3_ENST00000575389.2_Missense_Mutation_p.D885N Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 885 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GGCCGTGGGCGACCTGGAGAG 0.701000 16 21 0 0 0.00074312 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20484026 20484026 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:20484026G>A ENST00000202677.6 - 35 5319 c.5177C>T c.(5176-5178)cCg>cTg p.P1726L NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1726 Rap-GAP. activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 TGAGTCTGACGGCATTCGAGT 0.537000 20 45 0 0 0.000295444 0 0 DNM3 26052 broad.mit.edu 37 1 172007556 172007556 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:172007556A>T ENST00000358155.4 + 7 1123 c.947A>T c.(946-948)aAt>aTt p.N316I DNM3_ENST00000520906.1_Missense_Mutation_p.N316I|DNM3_ENST00000367733.2_Missense_Mutation_p.N316I|DNM3_ENST00000367731.1_Missense_Mutation_p.N316I|DNM3_ENST00000355305.5_Missense_Mutation_p.N316I NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 316 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GCCTACAAAAATTTCAAACCA 0.413000 44 70 0 0 0.000781405 0 0 FAM194A 131831 broad.mit.edu 37 3 150404140 150404140 + Splice_Site SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:150404140C>T ENST00000295910.6 - 4 607 c.553_splice c.e4-1 p.R185_splice FAM194A_ENST00000491361.1_Splice_Site_p.R39_splice NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 185 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 AGGCTTTCTTCCCTGTGAAAA 0.363000 27 39 0 0 0.001512 0 0 SPTB 6710 broad.mit.edu 37 14 65259726 65259726 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:65259726G>A ENST00000389722.3 - 13 2708 c.2655C>T c.(2653-2655)gtC>gtT p.V885V SPTB_ENST00000542895.1_Silent_p.V885V|SPTB_ENST00000389721.5_Silent_p.V885V|SPTB_ENST00000389720.3_Silent_p.V885V|SPTB_ENST00000556626.1_Silent_p.V885V NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 885 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TGTGCTGCACGACCTCCAGGT 0.572000 11 27 0 0 0.000151284 0 0 GRSF1 2926 broad.mit.edu 37 4 71691860 71691860 + Missense_Mutation SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:71691860T>C ENST00000254799.6 - 7 1355 c.1238A>G c.(1237-1239)aAt>aGt p.N413S GRSF1_ENST00000545193.1_Missense_Mutation_p.N295S|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.N251S|GRSF1_ENST00000439371.1_Missense_Mutation_p.N251S NM_002092.3 NP_002083.3 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 413 RRM 3. mRNA polyadenylation mRNA binding|nucleotide binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2) 17 all_hematologic(202;0.21) Lung(101;0.235) GTCTTGGGCATTGGCTTGGAA 0.398000 19 10 0 0 0.000375601 0 0 UTP14C 9724 broad.mit.edu 37 13 52604978 52604978 + Nonsense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr13:52604978C>T ENST00000521776.2 + 2 2771 c.2038C>T c.(2038-2040)Cag>Tag p.Q680* NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 680 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) AGCAGCTCATCAGGTACAAGT 0.473000 68 103 0 0 0.000781405 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48141519 48141519 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:48141519G>A ENST00000405493.2 - 14 1532 c.1323C>T c.(1321-1323)gaC>gaT p.D441D RAPGEF3_ENST00000389212.3_Silent_p.D483D|RAPGEF3_ENST00000395358.3_Silent_p.D483D|RAPGEF3_ENST00000549151.1_Silent_p.D441D|RAPGEF3_ENST00000548919.1_Silent_p.D441D|RAPGEF3_ENST00000171000.4_Silent_p.D441D|RAPGEF3_ENST00000449771.2_Silent_p.D483D NM_001098532.2|NM_006105.5 NP_001092002.1|NP_006096.2 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 441 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) TGGCCACAGGGTCAGTGTGGA 0.637000 12 27 0 0 0.000219431 0 0 CLGN 1047 broad.mit.edu 37 4 141320054 141320054 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:141320054C>T ENST00000325617.5 - 8 1275 c.835G>A c.(835-837)Gat>Aat p.D279N CLGN_ENST00000414773.1_Missense_Mutation_p.D279N|CLGN_ENST00000537281.1_Missense_Mutation_p.D279N NM_004362.2 NP_004353.1 O14967 CLGN_HUMAN calmegin 279 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) GCTCTTTCATCCCATTCCTCA 0.403000 47 43 0 0 0.000781405 0 0 DNAH8 1769 broad.mit.edu 37 6 38885135 38885135 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:38885135G>A ENST00000359357.3 + 67 9864 c.9610G>A c.(9610-9612)Gat>Aat p.D3204N DNAH8_ENST00000449981.2_Missense_Mutation_p.D3421N|DNAH8_ENST00000441566.1_Missense_Mutation_p.D3168N dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGTTACTATGGATCCAGAAAA 0.398000 27 44 0 0 0.000878237 0 0 SOX6 55553 broad.mit.edu 37 11 16340070 16340070 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:16340070G>A ENST00000352083.6 - 3 444 c.367C>T c.(367-369)Cgc>Tgc p.R123C SOX6_ENST00000528429.1_Missense_Mutation_p.R123C|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000527619.1_Missense_Mutation_p.R126C|SOX6_ENST00000316399.6_Missense_Mutation_p.R123C|SOX6_ENST00000396356.3_Missense_Mutation_p.R123C|SOX6_ENST00000528252.1_Missense_Mutation_p.R123C P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 123 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 CTCCCTTTGCGGCGCTCTGGG 0.498000 67 35 0 0 0.000781405 0 0 APOB 338 broad.mit.edu 37 2 21231795 21231795 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:21231795C>T ENST00000233242.1 - 26 8072 c.7945G>A c.(7945-7947)Gaa>Aaa p.E2649K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2649 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATGGTAAATTCTGGTGTGGAA 0.353000 188 313 0 0 0.000781405 0 0 SLC24A3 57419 broad.mit.edu 37 20 19664827 19664827 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:19664827C>T ENST00000328041.6 + 11 1106 c.909C>T c.(907-909)ttC>ttT p.F303F NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 303 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TAGCAAATTTCCACCGCAAAG 0.468000 27 57 0 0 0.00178596 0 0 FIG4 9896 broad.mit.edu 37 6 110110840 110110840 + Missense_Mutation SNP A A C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:110110840A>C ENST00000230124.3 + 19 2264 c.2140A>C c.(2140-2142)Act>Cct p.T714P FIG4_ENST00000441478.2_Missense_Mutation_p.T437P NM_014845.5 NP_055660.1 Q92562 FIG4_HUMAN FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) 714 cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) AAGTCCATTTACTGTGCGTAA 0.338000 24 54 0 0 0.00178596 0 0 EPPK1 83481 broad.mit.edu 37 8 144941698 144941698 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:144941698C>T ENST00000525985.1 - 2 5795 c.5724G>A c.(5722-5724)agG>agA p.R1908R P58107 EPIPL_HUMAN epiplakin 1 1908 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCATGACCTCCCTGGTGGAGG 0.657000 10 10 0 0 0.000673444 0 0 SPTA1 6708 broad.mit.edu 37 1 158622276 158622276 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:158622276T>A ENST00000368148.3 - 23 3536 c.3356A>T c.(3355-3357)aAg>aTg p.K1119M SPTA1_ENST00000368147.3_Missense_Mutation_p.K1119M NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1119 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTCATCAAACTTTTTCTGCAG 0.398000 32 56 0 0 0.00111076 0 0 COL11A1 1301 broad.mit.edu 37 1 103449719 103449719 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:103449719C>T ENST00000358392.2 - 31 2884 c.2567G>A c.(2566-2568)gGa>gAa p.G856E COL11A1_ENST00000353414.4_Missense_Mutation_p.G805E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G728E|COL11A1_ENST00000370096.3_Missense_Mutation_p.G844E NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 844 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCCTGGATATCCTGGTAATCC 0.264000 15 25 0 0 0.000958276 0 0 MAP7D1 55700 broad.mit.edu 37 1 36644057 36644057 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:36644057C>T ENST00000316156.4 + 9 2088 c.1635C>T c.(1633-1635)ccC>ccT p.P545P MAP7D1_ENST00000373151.2_Silent_p.P582P|MAP7D1_ENST00000373148.4_Silent_p.P119P|MAP7D1_ENST00000373150.4_Silent_p.P550P Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 582 Pro-rich. cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) CCCCTGCTCCCCCGGTGACCC 0.682000 5 6 0 0 0.000157383 0 0 HECA 51696 broad.mit.edu 37 6 139498230 139498230 + Silent SNP C C A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:139498230C>A ENST00000367658.2 + 4 1905 c.1620C>A c.(1618-1620)ctC>ctA p.L540L RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA NM_016217.2 NP_057301.1 Q9UBI9 HDC_HUMAN headcase homolog (Drosophila) 540 respiratory tube development endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1) 15 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) TCAAAGTTCTCGAAGCTTATT 0.368000 6 15 3.59834e-05 0.000202314 0.00116845 1 0 ZNF429 353088 broad.mit.edu 37 19 21720483 21720483 + Missense_Mutation SNP G G C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:21720483G>C ENST00000358491.4 + 4 1836 c.1628G>C c.(1627-1629)gGc>gCc p.G543A ZNF429_ENST00000597078.1_Intron NM_001001415.2 NP_001001415.2 Q86V71 ZN429_HUMAN zinc finger protein 429 543 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 GAAGAATGTGGCAAAGCTTTT 0.363000 3 25 0 0 6.4e-05 0 0 A4GALT 53947 broad.mit.edu 37 22 43089095 43089095 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr22:43089095G>A ENST00000401850.1 - 2 1352 c.863C>T c.(862-864)cCc>cTc p.P288L A4GALT_ENST00000249005.2_Missense_Mutation_p.P288L|A4GALT_ENST00000381278.3_Missense_Mutation_p.P288L Q9NPC4 A4GAT_HUMAN alpha 1,4-galactosyltransferase 288 glycosphingolipid biosynthetic process|plasma membrane organization Golgi stack|integral to Golgi membrane|membrane fraction lactosylceramide 4-alpha-galactosyltransferase activity NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1) 11 GTCCTGCCAGGGGATGGGGTA 0.637000 8 5 0 0 0.000673444 0 0 ATP8B2 57198 broad.mit.edu 37 1 154317908 154317908 + Missense_Mutation SNP G G T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:154317908G>T ENST00000368489.3 + 23 2680 c.2680G>T c.(2680-2682)Ggg>Tgg p.G894W NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 880 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.G894R(1) IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GCTGGTGCATGGGCGCTGGTC 0.527000 OREG0013835 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 304 3.86212e-05 0.000216817 0.000673444 1 0 CLDN3 1365 broad.mit.edu 37 7 73184200 73184200 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:73184200C>T ENST00000395145.2 - 1 400 c.180G>A c.(178-180)caG>caA p.Q60Q NM_001306.3 NP_001297.1 O15551 CLD3_HUMAN claudin 3 60 response to hypoxia integral to plasma membrane|tight junction structural molecule activity|transmembrane receptor activity kidney(1)|lung(1) 2 Lung NSC(55;0.159) TGCACTGCATCTGGCCGGTGC 0.652000 13 31 0 0 0.000151284 0 0 NHS 4810 broad.mit.edu 37 X 17743841 17743841 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:17743841G>A ENST00000380060.3 + 6 1890 c.1552G>A c.(1552-1554)Gaa>Aaa p.E518K NHS_ENST00000398097.3_Missense_Mutation_p.E362K NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 518 nucleus p.E518K(1) breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) GGGTGACCATGAAAGAACCCC 0.557000 22 43 0 0 0.000720815 0 0 SGSM3 27352 broad.mit.edu 37 22 40803434 40803434 + Nonsense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr22:40803434T>A ENST00000248929.9 + 13 1575 c.1386T>A c.(1384-1386)taT>taA p.Y462* SGSM3_ENST00000454798.2_Nonsense_Mutation_p.Y395* NM_015705.4 NP_056520.2 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 462 cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6) 19 CTCCAGACTATAGCATGGAGA 0.642000 15 11 0 0 0.000308642 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762228 130762228 + Nonsense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:130762228C>T ENST00000392429.1 + 2 3039 c.661C>T c.(661-663)Cga>Tga p.R221* TMEM200A_ENST00000545622.1_Nonsense_Mutation_p.R221*|TMEM200A_ENST00000296978.3_Nonsense_Mutation_p.R221* NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 221 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) GAGCAGTTTTCGAATGGACAG 0.478000 16 33 0 0 0.000422831 0 0 OR9I1 219954 broad.mit.edu 37 11 57886273 57886273 + Missense_Mutation SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:57886273A>G ENST00000302610.1 - 1 643 c.644T>C c.(643-645)cTg>cCg p.L215P OR9Q1_ENST00000335397.3_Intron NM_001005211.1 NP_001005211.1 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, member 1 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) ATAGGAAATCAGGATGACGGA 0.478000 8 9 0 0 0.000157383 0 0 SCN9A 6335 broad.mit.edu 37 2 167162390 167162390 + Nonsense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:167162390T>A ENST00000303354.6 - 5 851 c.511A>T c.(511-513)Aaa>Taa p.K171* SCN9A_ENST00000375387.4_Nonsense_Mutation_p.K171*|SCN9A_ENST00000409435.1_Nonsense_Mutation_p.K170*|SCN9A_ENST00000409672.1_Nonsense_Mutation_p.K170* Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 170 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) GCAAGGATTTTTACAAGTGAT 0.373000 28 35 0 0 0.000720815 0 0 BRF1 2972 broad.mit.edu 37 14 105718853 105718853 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:105718853G>A ENST00000546474.1 - 5 15494 c.535C>T c.(535-537)Ccg>Tcg p.P179S BRF1_ENST00000379937.2_Missense_Mutation_p.P152S|BRF1_ENST00000327359.3_Missense_Mutation_p.P64S|BRF1_ENST00000440513.3_Missense_Mutation_p.P64S NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 179 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) CCTATGGCCGGCGCATTGATG 0.532000 13 18 0 0 0.000219431 0 0 DLGAP2 9228 broad.mit.edu 37 8 1624744 1624744 + Nonsense_Mutation SNP G G T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:1624744G>T ENST00000421627.2 + 8 2142 c.2008G>T c.(2008-2010)Gaa>Taa p.E670* NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 749 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CGGTCTGCGGGAATACCACTC 0.562000 6 3 5.18039e-06 2.91928e-05 0.000157383 1 0 HFM1 164045 broad.mit.edu 37 1 91859874 91859874 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:91859874G>A ENST00000370425.3 - 4 368 c.270C>T c.(268-270)ttC>ttT p.F90F HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 90 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) AGGCAAACTGGAATTTTTGTG 0.308000 21 19 0 0 0.00121646 0 0 MTUS2 23281 broad.mit.edu 37 13 30066811 30066811 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr13:30066811G>A ENST00000431530.3 + 10 3622 c.3564G>A c.(3562-3564)aaG>aaA p.K1188K MTUS2_ENST00000542829.1_Silent_p.K67K|MTUS2_ENST00000380808.2_Silent_p.K157K NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 1178 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 AGCTTGAAAAGAAAGAATTGG 0.343000 23 36 0 0 0.000720815 0 0 SYT2 127833 broad.mit.edu 37 1 202566040 202566040 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:202566040C>T ENST00000367267.1 - 9 1297 c.1105G>A c.(1105-1107)Gaa>Aaa p.E369K SYT2_ENST00000367268.4_Missense_Mutation_p.E369K NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 369 C2 2.|Phospholipid binding (By similarity). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) CCTATGGCTTCGTTCTTGCCC 0.607000 19 47 0 0 0.00152264 0 0 ANAPC4 29945 broad.mit.edu 37 4 25379079 25379079 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:25379079C>T ENST00000315368.3 + 2 172 c.30C>T c.(28-30)tcC>tcT p.S10S ANAPC4_ENST00000510092.1_Silent_p.S10S NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 10 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|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|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) GTTTCCCATCCTTCCGGGTGG 0.632000 11 36 0 0 0.00136819 0 0 MRPL30 51263 broad.mit.edu 37 2 99812098 99812098 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:99812098T>A ENST00000338148.3 + 6 614 c.416T>A c.(415-417)cTc>cAc p.L139H C2orf15_ENST00000512183.2_Missense_Mutation_p.L139H|MRPL30_ENST00000465432.1_3'UTR NM_145212.3 NP_660213.1 Q8TCC3 RM30_HUMAN mitochondrial ribosomal protein L30 139 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 AACACGTGCCTCAAAAGCACT 0.478000 40 76 0 0 0.00170553 0 0 DDI1 414301 broad.mit.edu 37 11 103908174 103908174 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:103908174G>A ENST00000302259.3 + 1 867 c.624G>A c.(622-624)cgG>cgA p.R208R PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 208 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) CACTGGATCGGGAAGCTCAGG 0.498000 42 24 0 0 0.00148497 0 0 XIRP2 129446 broad.mit.edu 37 2 167760381 167760381 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:167760381C>T ENST00000409195.1 + 2 478 c.389C>T c.(388-390)cCa>cTa p.P130L XIRP2_ENST00000409728.1_Missense_Mutation_p.P130L|XIRP2_ENST00000409043.1_Missense_Mutation_p.P130L|XIRP2_ENST00000295237.9_Missense_Mutation_p.P130L|XIRP2_ENST00000409756.2_Missense_Mutation_p.P130L|XIRP2_ENST00000420519.1_Missense_Mutation_p.P130L NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 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 GGAAACAAACCAGCTGAGTAC 0.458000 22 58 0 0 0.00047179 0 0 DNAH5 1767 broad.mit.edu 37 5 13780988 13780988 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:13780988C>T ENST00000265104.4 - 53 9005 c.8901G>A c.(8899-8901)agG>agA p.R2967R NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2967 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ATGAAGCCAACCTCGTCAGGC 0.468000 Kartagener syndrome 18 21 0 0 0.000958276 0 0 OR6T1 219874 broad.mit.edu 37 11 123814360 123814360 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:123814360G>A ENST00000321252.2 - 1 220 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) AATTCCGCAGGAAGAAGTACA 0.488000 42 21 0 0 0.000509022 0 0 MUC16 94025 broad.mit.edu 37 19 9027568 9027568 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:9027568G>A ENST00000397910.4 - 12 36779 c.36576C>T c.(36574-36576)acC>acT p.T12192T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12194 cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGCTTCGATGGGTGAAACCTG 0.537000 25 25 0 0 0.000878237 0 0 NEK7 140609 broad.mit.edu 37 1 198247118 198247118 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:198247118C>T ENST00000367385.4 + 6 742 c.400C>T c.(400-402)Cct>Tct p.P134S NEK7_ENST00000538004.1_Missense_Mutation_p.P134S NM_133494.2 NP_598001.1 Q8TDX7 NEK7_HUMAN NIMA-related kinase 7 134 Protein kinase. cytoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.P134S(1) endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 GAGGCTAATTCCTGAAAGAAC 0.318000 37 94 0 0 0.000953801 0 0 DNER 92737 broad.mit.edu 37 2 230411738 230411738 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:230411738G>A ENST00000341772.4 - 5 1052 c.918C>T c.(916-918)acC>acT p.T306T NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 306 central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) CCGGCACACAGGTGCTGACCT 0.468000 33 55 0 0 0.000339439 0 0 DNAH11 8701 broad.mit.edu 37 7 21630843 21630843 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:21630843A>T ENST00000328843.6 + 14 2346 c.2315A>T c.(2314-2316)aAa>aTa p.K772I DNAH11_ENST00000409508.3_Missense_Mutation_p.K772I Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 772 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GGGTATAATAAACTCAAACAG 0.433000 Kartagener syndrome 44 28 0 0 0.000437636 0 0 MYLK 4638 broad.mit.edu 37 3 123401111 123401111 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:123401111C>T ENST00000360772.3 - 21 3990 c.3612G>A c.(3610-3612)cgG>cgA p.R1204R MYLK_ENST00000346322.5_Silent_p.R1135R|MYLK_ENST00000475616.1_Silent_p.R1204R|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000360304.3_Silent_p.R1204R|MYLK_ENST00000359169.1_Silent_p.R1204R|MYLK_ENST00000354792.5_Silent_p.R4R Q15746 MYLK_HUMAN myosin light chain kinase 1204 Actin-binding (calcium/calmodulin- insensitive) (By similarity). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TCTTGGGCCTCCGGGATTTCA 0.562000 7 8 0 0 0.000442599 0 0 ABCA3 21 broad.mit.edu 37 16 2345602 2345602 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:2345602C>T ENST00000301732.5 - 18 3103 c.2403G>A c.(2401-2403)gaG>gaA p.E801E ABCA3_ENST00000382381.3_Silent_p.E743E NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 801 E -> D (in a breast cancer sample; somatic mutation). response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.E801D(1) breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) TGTGCGTGCTCTCTCTGGGAA 0.627000 50 84 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179613668 179613668 + Nonsense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:179613668G>A ENST00000360870.5 - 46 13681 c.13459C>T c.(13459-13461)Caa>Taa p.Q4487* TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 617 Ig-like 25. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCTTCTTTTGAGGAGGATTA 0.318000 32 44 0 0 0.00178596 0 0 C12orf42 374470 broad.mit.edu 37 12 103700002 103700002 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:103700002G>A ENST00000548048.1 - 8 676 c.180C>T c.(178-180)ttC>ttT p.F60F C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Silent_p.F127F|C12orf42_ENST00000378113.2_Silent_p.F127F|C12orf42_ENST00000315192.8_Intron Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 127 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 GAGAGGAACGGAATTCTTCAT 0.463000 15 25 0 0 0.00074312 0 0 MRPL4 51073 broad.mit.edu 37 19 10363306 10363306 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:10363306C>T ENST00000393733.2 + 3 231 c.204C>T c.(202-204)tcC>tcT p.S68S MRPL4_ENST00000253099.6_Silent_p.S68S|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000307422.5_Silent_p.S68S|MRPL4_ENST00000590669.1_Silent_p.S68S|MRPL4_ENST00000588502.1_Silent_p.S67S Q9BYD3 RM04_HUMAN mitochondrial ribosomal protein L4 68 translation mitochondrion|ribosome structural constituent of ribosome breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 Renal(1328;0.0112) OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06) Lung(535;0.00705) GGGTCGAGTCCTTGCGGGGCT 0.677000 24 31 0 0 0.000586117 0 0 TPTE 7179 broad.mit.edu 37 21 10914373 10914373 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr21:10914373C>T ENST00000298232.7 - 20 1659 c.1292G>A c.(1291-1293)gGa>gAa p.G431E TPTE_ENST00000342420.5_Missense_Mutation_p.G411E|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.G449E NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 449 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CGAACATTTTCCTAATGAAAT 0.318000 8 68 0 0 0.000673444 0 0 LMX1A 4009 broad.mit.edu 37 1 165175136 165175136 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:165175136G>A ENST00000342310.3 - 8 1335 c.953C>T c.(952-954)cCa>cTa p.P318L LMX1A_ENST00000294816.2_Missense_Mutation_p.P318L|LMX1A_ENST00000367893.4_Missense_Mutation_p.P318L|LMX1A_ENST00000489443.2_5'UTR NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 318 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CATCTGGGGTGGGGTGAGACC 0.572000 28 34 0 0 0.000339439 0 0 SHROOM2 357 broad.mit.edu 37 X 9900726 9900726 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:9900726G>A ENST00000380913.3 + 6 3493 c.3403G>A c.(3403-3405)Gga>Aga p.G1135R SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_5'UTR NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 1135 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) CTGTGAGCGTGGAAGCCAGCA 0.652000 10 22 0 0 0.000442599 0 0 CLCNKA 1187 broad.mit.edu 37 1 16350333 16350333 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:16350333G>A ENST00000375692.1 + 4 267 c.139G>A c.(139-141)Gga>Aga p.G47R CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.G47R|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G47R|CLCNKA_ENST00000331433.4_Missense_Mutation_p.G47R P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 47 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) GTTCCGCCTGGGAGAAGACTG 0.597000 21 30 0 0 0.000375601 0 0 SYCP2 10388 broad.mit.edu 37 20 58475306 58475306 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:58475306C>T ENST00000357552.3 - 18 1516 c.1291G>A c.(1291-1293)Gga>Aga p.G431R SYCP2_ENST00000371001.2_Missense_Mutation_p.G431R Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 431 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) AGCTCTTCTCCGACTGGTGAG 0.333000 13 22 0 0 0.000219431 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64607732 64607732 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:64607732C>T ENST00000342711.5 - 5 440 c.441G>A c.(439-441)gtG>gtA p.V147V NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 147 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 AGTAGTCCATCACAAGGTACT 0.652000 8 7 0 0 0.000157383 0 0 SHROOM2 357 broad.mit.edu 37 X 9900704 9900704 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:9900704G>A ENST00000380913.3 + 6 3471 c.3381G>A c.(3379-3381)ccG>ccA p.P1127P SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_5'UTR NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 1127 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) AGGACACCCCGAAGGCCACTG 0.657000 10 19 0 0 0.000442599 0 0 ACACB 32 broad.mit.edu 37 12 109698356 109698356 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:109698356C>T ENST00000338432.7 + 48 6687 c.6568C>T c.(6568-6570)Ctg>Ttg p.L2190L ACACB_ENST00000377848.3_Silent_p.L2190L|ACACB_ENST00000377854.5_Silent_p.L2120L|ACACB_ENST00000543201.1_3'UTR O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 2190 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) ACAGCCCATCCTGATCTATAT 0.522000 53 101 0 0 0.000781405 0 0 CACNA1G 8913 broad.mit.edu 37 17 48701370 48701370 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:48701370C>T ENST00000352832.5 + 32 6154 c.5782C>T c.(5782-5784)Cgg>Tgg p.R1928W CACNA1G_ENST00000359106.5_Missense_Mutation_p.R2055W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1910W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1951W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1939W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1944W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1962W|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1928W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1928W|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1937W|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1992W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1984W|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1921W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1951W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1917W|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1976W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1965W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1905W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1999W|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R2021W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1962W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R2044W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R2010W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1955W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1969W NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 2055 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CTACATGTGTCGGCATGGGAG 0.637000 20 30 0 0 0.00121646 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212306 26212306 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:26212306C>T ENST00000379034.1 + 2 492 c.343C>T c.(343-345)Cct>Tct p.P115S NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 115 Ser-rich. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CACTGGCTCTCCTGATGCAGG 0.542000 30 58 0 0 0.000491102 0 0 TAF9B 51616 broad.mit.edu 37 X 77393565 77393565 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:77393565T>A ENST00000341864.5 - 3 258 c.164A>T c.(163-165)aAa>aTa p.K55I NM_015975.4 NP_057059.2 Q9HBM6 TAF9B_HUMAN TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa 55 negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 14 CGAATAAATTTTTGCATCATC 0.368000 63 101 0 0 0.000781405 0 0 PRKCB 5579 broad.mit.edu 37 16 24185843 24185843 + Missense_Mutation SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:24185843T>C ENST00000303531.7 + 12 1488 c.1336T>C c.(1336-1338)Tac>Cac p.Y446H PRKCB_ENST00000321728.7_Missense_Mutation_p.Y446H NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 446 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) TTTCAGATTTTACGCTGCAGA 0.388000 13 25 0 0 0.000219431 0 0 TEX14 56155 broad.mit.edu 37 17 56692624 56692624 + Missense_Mutation SNP C C T rs140185813 by1000genomes TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:56692624C>T ENST00000389934.3 - 8 967 c.850G>A c.(850-852)Gac>Aac p.D284N TEX14_ENST00000349033.5_Missense_Mutation_p.D284N|TEX14_ENST00000240361.8_Missense_Mutation_p.D290N NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 290 Protein kinase. cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) ATTAACAAGTCGGCCAGCCGC 0.557000 40 54 0 0 0.000781405 0 0 TRAV12-2 28673 broad.mit.edu 37 14 22356464 22356464 + RNA SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:22356464C>T ENST00000390437.2 + 0 227 GCCATTGCCTCTCTCAACTGC 0.488000 19 37 0 0 0.000958276 0 0 PLXNA3 55558 broad.mit.edu 37 X 153694496 153694496 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:153694496C>T ENST00000369682.3 + 15 2857 c.2682C>T c.(2680-2682)atC>atT p.I894I NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 894 IPT/TIG 1. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCCCTAGGATCGTGTGTGAGA 0.677000 22 26 0 0 0.000295444 0 0 IPO11 51194 broad.mit.edu 37 5 61832575 61832575 + Silent SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:61832575T>C ENST00000325324.6 + 23 2305 c.2136T>C c.(2134-2136)ggT>ggC p.G712G KIF2A_ENST00000509663.2_3'UTR|IPO11_ENST00000409296.3_Silent_p.G752G NM_016338.4 NP_057422.3 Q9UI26 IPO11_HUMAN importin 11 712 cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) TCATCAATGGTTATATCTTTT 0.239000 19 24 0 0 0.00121646 0 0 MEGF6 1953 broad.mit.edu 37 1 3412483 3412483 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:3412483G>A ENST00000356575.4 - 30 4068 c.3842C>T c.(3841-3843)cCg>cTg p.P1281L MEGF6_ENST00000294599.4_Missense_Mutation_p.P1046L NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 1281 EGF-like 23. extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GGCTCTCCCCGGGGGGCAGAG 0.687000 4 12 0 0 0.00024832 0 0 C19orf57 79173 broad.mit.edu 37 19 14006280 14006280 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:14006280C>T ENST00000454313.1 - 3 169 c.111G>A c.(109-111)ttG>ttA p.L37L C19orf57_ENST00000591586.1_Silent_p.L37L|C19orf57_ENST00000346736.2_Silent_p.L37L|C19orf57_ENST00000586783.1_Silent_p.L37L Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 37 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GTAAACAGCCCAACATGGAAC 0.552000 53 93 0 0 0.000781405 0 0 BTBD11 121551 broad.mit.edu 37 12 108029125 108029125 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:108029125C>T ENST00000280758.5 + 12 3223 c.2695C>T c.(2695-2697)Ccc>Tcc p.P899S BTBD11_ENST00000357167.4_Missense_Mutation_p.P436S|BTBD11_ENST00000494235.2_5'UTR|BTBD11_ENST00000490090.2_Missense_Mutation_p.P899S|BTBD11_ENST00000420571.2_Missense_Mutation_p.P780S NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 899 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 CTACCCCATCCCCAAGCTCAC 0.547000 30 44 0 0 0.000339439 0 0 NOS3 4846 broad.mit.edu 37 7 150696062 150696062 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:150696062G>A ENST00000297494.3 + 8 1202 c.845G>A c.(844-846)gGa>gAa p.G282E NOS3_ENST00000467517.1_Missense_Mutation_p.G282E|NOS3_ENST00000484524.1_Missense_Mutation_p.G282E|NOS3_ENST00000461406.1_Missense_Mutation_p.G76E NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 282 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.G282E(1) NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) TGGACCCCAGGAAACGGTCGC 0.662000 22 44 0 0 0.000229342 0 0 ABR 29 broad.mit.edu 37 17 914039 914039 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:914039C>T ENST00000544583.2 - 20 2627 c.2028G>A c.(2026-2028)aaG>aaA p.K676K ABR_ENST00000302538.5_Silent_p.K722K|ABR_ENST00000574437.1_Silent_p.K676K|ABR_ENST00000572441.1_Intron|ABR_ENST00000536794.2_Silent_p.K504K|ABR_ENST00000291107.2_Silent_p.K685K|ABR_ENST00000543210.2_Silent_p.K173K NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related 722 Rho-GAP. 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 GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) GGAAGTACAGCTTGAGCGTCC 0.627000 25 45 0 0 0.000375601 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55024677 55024677 + Missense_Mutation SNP G G A rs145545626 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr18:55024677G>A ENST00000324000.3 + 3 2870 c.836G>A c.(835-837)gGa>gAa p.G279E NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 279 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity p.G279E(1) breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) GCTTGGCCGGGAAATATAATG 0.408000 44 59 0 0 0.000781405 0 0 KIF2B 84643 broad.mit.edu 37 17 51900733 51900733 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:51900733G>A ENST00000268919.4 + 1 495 c.339G>A c.(337-339)acG>acA p.T113T NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 113 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GTACCGCCACGAAATGGGTTG 0.592000 30 54 0 0 0.00106085 0 0 ZNF662 389114 broad.mit.edu 37 3 42956297 42956297 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:42956297G>A ENST00000541208.1 + 5 1101 c.732G>A c.(730-732)ggG>ggA p.G244G ZNF662_ENST00000440367.2_Silent_p.G244G|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Silent_p.G270G Q6ZS27 ZN662_HUMAN zinc finger protein 662 244 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) TTCACAGTGGGGTGAAACCCT 0.413000 28 31 0 0 0.00106085 0 0 MTR 4548 broad.mit.edu 37 1 236979789 236979789 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:236979789C>T ENST00000366577.5 + 8 1104 c.710C>T c.(709-711)tCc>tTc p.S237F MTR_ENST00000418145.2_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.S237F NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 237 Hcy-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) CGGACTCTTTCCGGACAGACA 0.408000 127 115 0 0 0.000781405 0 0 WDR6 11180 broad.mit.edu 37 3 49051357 49051357 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:49051357G>A ENST00000395474.3 + 2 2760 c.2480G>A c.(2479-2481)gGc>gAc p.G827D WDR6_ENST00000448293.1_Missense_Mutation_p.G746D|WDR6_ENST00000415265.2_Missense_Mutation_p.G245D NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 797 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) CCTCAGCCAGGCCTGACTGCC 0.642000 OREG0015565 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 25 0 0 0.000219431 0 0 TPK1 27010 broad.mit.edu 37 7 144150682 144150682 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:144150682C>T ENST00000360057.3 - 9 790 c.688G>A c.(688-690)Gaa>Aaa p.E230K TPK1_ENST00000378099.3_Missense_Mutation_p.E181K|TPK1_ENST00000549981.1_3'UTR|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Missense_Mutation_p.E176K NM_022445.3 NP_071890.2 Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 230 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) TGGTCAGTTTCCACAGTCACA 0.443000 105 62 0 0 0.000781405 0 0 OR52B2 255725 broad.mit.edu 37 11 6191292 6191292 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:6191292G>A ENST00000530810.1 - 1 346 c.265C>T c.(265-267)Ctt>Ttt p.L89F RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTGCTTGAAGCCAAAAGATG 0.493000 49 41 0 0 0.000781405 0 0 LIPF 8513 broad.mit.edu 37 10 90438385 90438385 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:90438385C>T ENST00000394375.3 + 11 1287 c.1174C>T c.(1174-1176)Cct>Tct p.P392S LIPF_ENST00000238983.4_Missense_Mutation_p.P382S|LIPF_ENST00000355843.2_Missense_Mutation_p.P349S NM_001198829.1 NP_001185758.1 P07098 LIPG_HUMAN lipase, gastric 382 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) AATGGATGCCCCTCAAGAAGT 0.343000 32 19 0 0 0.000339439 0 0 HR 55806 broad.mit.edu 37 8 21986541 21986541 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:21986541G>A ENST00000381418.4 - 2 1623 c.143C>T c.(142-144)cCc>cTc p.P48L HR_ENST00000312841.8_Missense_Mutation_p.P48L NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 48 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CCTCCAAAAGGGAGCAGGCTC 0.687000 12 25 0 0 0.00136819 0 0 TUBB1 81027 broad.mit.edu 37 20 57599799 57599799 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:57599799G>A ENST00000217133.1 + 4 1586 c.1317G>A c.(1315-1317)acG>acA p.T439T NM_030773.3 NP_110400.1 Q9H4B7 TBB1_HUMAN tubulin, beta 1 class VI 439 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2) 16 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) AAGAGGTCACGGAGGAGGCAG 0.443000 6 31 0 0 8.12818e-05 0 0 POTEF 728378 broad.mit.edu 37 2 130878044 130878044 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:130878044C>T ENST00000357462.5 - 1 138 c.45G>A c.(43-45)aaG>aaA p.K15K POTEF_ENST00000361163.4_Silent_p.K15K|POTEF_ENST00000409914.2_Silent_p.K15K|POTEF_ENST00000360967.5_Silent_p.K15K A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 15 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 CAAATGGCTTCTTCACAGAAG 0.562000 32 50 0 0 0.000781405 0 0 GCH1 2643 broad.mit.edu 37 14 55310756 55310756 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:55310756G>A ENST00000491895.2 - 6 920 c.732C>T c.(730-732)ttC>ttT p.F244F GCH1_ENST00000395514.1_Silent_p.F244F|GCH1_ENST00000536224.2_Intron|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000543643.2_Intron NM_000161.2 NP_000152.1 P30793 GCH1_HUMAN GTP cyclohydrolase 1 244 dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process cytoplasmic vesicle|cytosol|nuclear membrane|protein complex GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding endometrium(2)|lung(7)|skin(2) 11 TGAGAGTCAGGAACTCTTCCC 0.483000 20 48 0 0 0.000229342 0 0 SPEN 23013 broad.mit.edu 37 1 16256478 16256478 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:16256478C>T ENST00000375759.3 + 11 3947 c.3743C>T c.(3742-3744)tCa>tTa p.S1248L NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1248 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TACAGAAGTTCACGCCAAATC 0.473000 35 42 0 0 0.000692331 0 0 PKN1 5585 broad.mit.edu 37 19 14578389 14578389 + Nonsense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:14578389C>T ENST00000242783.6 + 13 1909 c.1744C>T c.(1744-1746)Cag>Tag p.Q582* PKN1_ENST00000342216.4_Nonsense_Mutation_p.Q588* NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 582 activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 CTCCCCCATCCAGGAATCCAC 0.662000 9 24 0 0 0.000978159 0 0 PHKA1 5255 broad.mit.edu 37 X 71840728 71840728 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:71840728G>A ENST00000339490.3 - 19 2284 c.1984C>T c.(1984-1986)Cgt>Tgt p.R662C PHKA1_ENST00000373539.3_Missense_Mutation_p.R662C|PHKA1_ENST00000373545.3_Intron|PHKA1_ENST00000373542.4_Missense_Mutation_p.R662C|PHKA1_ENST00000541944.1_Intron NM_001122670.1 NP_001116142.1 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 662 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) TCTAAATAACGAGCAACTTCA 0.483000 11 38 0 0 0.000151284 0 0 TTN 7273 broad.mit.edu 37 2 179634502 179634502 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:179634502G>A ENST00000589042.1 - 37 9030 c.8806C>T c.(8806-8808)Cat>Tat p.H2936Y TTN_ENST00000460472.2_Missense_Mutation_p.H2890Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H2936Y|TTN_ENST00000591111.1_Missense_Mutation_p.H2936Y|TTN_ENST00000342175.6_Missense_Mutation_p.H2890Y|TTN_ENST00000360870.5_Missense_Mutation_p.H2936Y|TTN_ENST00000359218.5_Missense_Mutation_p.H2890Y NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2674 Ig-like 16. 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) ATCAGCTGATGGAGTTTTCCC 0.478000 70 141 0 0 0.000781405 0 0 GABRB2 2561 broad.mit.edu 37 5 160721128 160721128 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:160721128G>A ENST00000274547.2 - 11 1716 c.1499C>T c.(1498-1500)tCc>tTc p.S500F GABRB2_ENST00000353437.6_Missense_Mutation_p.S462F|GABRB2_ENST00000517547.1_Missense_Mutation_p.S302F|GABRB2_ENST00000393959.1_Missense_Mutation_p.S500F|GABRB2_ENST00000520240.1_Missense_Mutation_p.S462F|GABRB2_ENST00000517901.1_Missense_Mutation_p.S399F NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 500 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GTTGAAGAAGGAAAAAACCAC 0.473000 20 22 0 0 0.000229342 0 0 ZNF565 147929 broad.mit.edu 37 19 36673547 36673547 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:36673547G>A ENST00000355114.5 - 5 2167 c.1441C>T c.(1441-1443)Cac>Tac p.H481Y ZNF565_ENST00000392173.2_Missense_Mutation_p.H441Y|ZNF565_ENST00000304116.5_Missense_Mutation_p.H441Y Q8N9K5 ZN565_HUMAN zinc finger protein 565 441 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(4)|ovary(1)|skin(2) 11 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.206) TCACAAGTGTGAATTCGCTGA 0.418000 15 20 0 0 0.000566183 0 0 KAT6A 7994 broad.mit.edu 37 8 41791374 41791374 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:41791374G>A ENST00000396930.3 - 18 4907 c.4364C>T c.(4363-4365)aCc>aTc p.T1455I KAT6A_ENST00000265713.2_Missense_Mutation_p.T1455I|KAT6A_ENST00000406337.1_Missense_Mutation_p.T1455I NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1455 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ACTCTGCAGGGTCTGACACGC 0.527000 29 64 0 0 0.000409698 0 0 DEC1 50514 broad.mit.edu 37 9 118163567 118163567 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:118163567G>A ENST00000374016.1 + 7 702 c.183G>A c.(181-183)agG>agA p.R61R NM_017418.2 NP_059114.1 Q9P2X7 DEC1_HUMAN deleted in esophageal cancer 1 61 negative regulation of cell proliferation kidney(1)|large_intestine(1)|ovary(1) 3 CTCTTGCCAGGCCCAAGGCTG 0.408000 27 11 0 0 0.000339439 0 0 CHRNB4 1143 broad.mit.edu 37 15 78921508 78921508 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:78921508G>A ENST00000261751.3 - 5 1250 c.1139C>T c.(1138-1140)tCc>tTc p.S380F CHRNB4_ENST00000412074.2_Intron NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 380 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 ATAGAAGTTGGAGGGGCTGGT 0.642000 21 23 0 0 0.000229342 0 0 XIRP2 129446 broad.mit.edu 37 2 168099978 168099978 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:168099978G>A ENST00000409195.1 + 9 2165 c.2076G>A c.(2074-2076)gtG>gtA p.V692V XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V692V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.V470V NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 517 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 TCAAGACTGTGAGATACATGT 0.398000 22 35 0 0 0.000229342 0 0 SLC15A2 6565 broad.mit.edu 37 3 121647371 121647371 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:121647371C>T ENST00000489711.1 + 15 1698 c.1310C>T c.(1309-1311)tCt>tTt p.S437F SLC15A2_ENST00000295605.2_Missense_Mutation_p.S406F|SLC15A2_ENST00000465060.1_3'UTR NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 437 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) GAAAACAATTCTCTGTTGATA 0.428000 44 77 0 0 0.000680045 0 0 SLC12A8 84561 broad.mit.edu 37 3 124810994 124810994 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:124810994G>A ENST00000423114.2 - 11 1840 c.1841C>T c.(1840-1842)tCc>tTc p.S614F SLC12A8_ENST00000469902.1_Missense_Mutation_p.S585F|SLC12A8_ENST00000430155.2_Missense_Mutation_p.S386F|SLC12A8_ENST00000393469.4_Missense_Mutation_p.S585F|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000314584.7_Intron A0AV02 S12A8_HUMAN solute carrier family 12, member 8 585 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 GAAAGAAGTGGATCTTCTCCA 0.453000 31 55 0 0 0.00058488 0 0 RPS16 6217 broad.mit.edu 37 19 39924197 39924197 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:39924197G>A ENST00000339471.4 - 3 395 c.355C>T c.(355-357)Cca>Tca p.P119S RPS16_ENST00000599539.1_Missense_Mutation_p.S87F|RPS16_ENST00000251453.3_Missense_Mutation_p.S87F|RPS16_ENST00000601655.1_Missense_Mutation_p.S70F P62249 RS16_HUMAN ribosomal protein S16 0 endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|RNA binding|structural constituent of ribosome central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2) 7 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TTTGGAGATGGACTGACGGAT 0.547000 47 63 0 0 0.000781405 0 0 OR2T4 127074 broad.mit.edu 37 1 248525185 248525185 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:248525185G>A ENST00000366475.1 + 1 303 c.303G>A c.(301-303)atG>atA p.M101I NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGTCTCTCATGGACATGGCGT 0.502000 63 216 0 0 0.000781405 0 0 ZNF610 162963 broad.mit.edu 37 19 52869803 52869803 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:52869803T>A ENST00000601151.1 + 5 1495 c.1043T>A c.(1042-1044)cTt>cAt p.L348H ZNF610_ENST00000327920.8_Missense_Mutation_p.L391H|ZNF610_ENST00000321287.8_Missense_Mutation_p.L391H|ZNF610_ENST00000403906.3_Missense_Mutation_p.L391H NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 391 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) ATGGCCCATCTTCTAATCCAT 0.413000 17 35 0 0 0.00074312 0 0 GAR1 54433 broad.mit.edu 37 4 110745127 110745127 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:110745127T>A ENST00000226796.6 + 6 842 c.578T>A c.(577-579)tTt>tAt p.F193Y GAR1_ENST00000394631.3_Missense_Mutation_p.F193Y NM_018983.3 NP_061856.1 Q9NY12 GAR1_HUMAN GAR1 ribonucleoprotein 193 RGG-box 2. rRNA processing|snRNA pseudouridine synthesis box H/ACA snoRNP complex|Cajal body cation channel activity|pseudouridine synthase activity|snoRNA binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 9 TTAGGTGGTTTTAGAGGTGGA 0.313000 71 31 0 0 0.000781405 0 0 ZNF99 7652 broad.mit.edu 37 19 22940851 22940851 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:22940851G>A ENST00000397104.3 - 5 1586 c.1587C>T c.(1585-1587)ccC>ccT p.P529P ZNF99_ENST00000596209.1_Silent_p.P620P zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CACATTTGTAGGGTTTCTTTC 0.383000 8 17 0 0 0.000673444 0 0 LRTM2 654429 broad.mit.edu 37 12 1940342 1940342 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:1940342C>T ENST00000543818.1 + 4 1151 c.309C>T c.(307-309)ttC>ttT p.F103F CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000299194.1_Silent_p.F103F|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000535041.1_Silent_p.F103F|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000587995.1_Intron NM_001039029.2|NM_001163925.1|NM_001163926.1 NP_001034118.1|NP_001157397.1|NP_001157398.1 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 103 integral to membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) CCAACAACTTCCTGGACCGGC 0.592000 18 40 0 0 0.00074312 0 0 NUP93 9688 broad.mit.edu 37 16 56866247 56866247 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:56866247C>T ENST00000564887.1 + 10 1552 c.923C>T c.(922-924)cCa>cTa p.P308L NUP93_ENST00000308159.5_Missense_Mutation_p.P431L|NUP93_ENST00000569842.1_Missense_Mutation_p.P431L|NUP93_ENST00000542526.1_Missense_Mutation_p.P308L NM_001242795.1 NP_001229724.1 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 431 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 ACCAGCTCCCCACAAGACAGG 0.473000 21 51 0 0 0.000720815 0 0 GTF3C5 9328 broad.mit.edu 37 9 135919250 135919250 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:135919250C>T ENST00000372097.5 + 3 832 c.509C>T c.(508-510)cCa>cTa p.P170L GTF3C5_ENST00000342018.8_Missense_Mutation_p.P170L|GTF3C5_ENST00000372108.5_Missense_Mutation_p.P170L|GTF3C5_ENST00000372099.6_Missense_Mutation_p.P161L|GTF3C5_ENST00000485692.1_3'UTR|GTF3C5_ENST00000372095.5_Missense_Mutation_p.P45L NM_012087.3 NP_036219.2 Q9Y5Q8 TF3C5_HUMAN general transcription factor IIIC, polypeptide 5, 63kDa 170 transcription factor TFIIIC complex DNA binding|protein binding endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05) TACATCCCCCCACCCATCTTC 0.617000 11 15 0 0 0.000978159 0 0 GTF2E2 2961 broad.mit.edu 37 8 30511065 30511065 + Silent SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:30511065A>T ENST00000355904.4 - 2 333 c.51T>A c.(49-51)ctT>ctA p.L17L NM_002095.4 NP_002086.1 P29084 T2EB_HUMAN general transcription factor IIE, polypeptide 2, beta 34kDa 17 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription factor TFIIE complex DNA binding|protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135) CAGGAGTAGAAAGAGCTCGTT 0.383000 25 39 0 0 0.000375601 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140774627 140774627 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:140774627C>T ENST00000398604.2 + 1 2247 c.2247C>T c.(2245-2247)ttC>ttT p.F749F PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACAGGCTTTCCTGCAGACCT 0.582000 34 23 0 0 0.000339439 0 0 CCIN 881 broad.mit.edu 37 9 36170052 36170052 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:36170052C>T ENST00000335119.2 + 1 664 c.553C>T c.(553-555)Cgt>Tgt p.R185C NM_005893.2 NP_005884.2 Q13939 CALI_HUMAN calicin 185 BACK. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) CCGCCTGCTCCGTGATGAAAA 0.532000 24 12 0 0 0.00047179 0 0 AKR1C2 1646 broad.mit.edu 37 10 5042641 5042641 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:5042641C>T ENST00000455190.1 - 4 406 c.381G>A c.(379-381)ggG>ggA p.G127G AKR1C2_ENST00000380753.4_Intron|AKR1C2_ENST00000421196.3_Intron|AKR1C2_ENST00000407674.1_Intron NM_001135241.2 NP_001128713.1 P52895 AK1C2_HUMAN aldo-keto reductase family 1, member C2 0 digestion|prostaglandin metabolic process|steroid metabolic process cytoplasm androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(1)|large_intestine(5)|lung(3)|skin(1) 10 NADH(DB00157)|Ursodeoxycholic acid(DB01586) ATGTTAAAATCCCTATGTCCT 0.348000 7 5 0 0 8.12818e-05 0 0 ZNF610 162963 broad.mit.edu 37 19 52869701 52869701 + Missense_Mutation SNP C C T rs148016576 byFrequency TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:52869701C>T ENST00000601151.1 + 5 1393 c.941C>T c.(940-942)tCa>tTa p.S314L ZNF610_ENST00000327920.8_Missense_Mutation_p.S357L|ZNF610_ENST00000321287.8_Missense_Mutation_p.S357L|ZNF610_ENST00000403906.3_Missense_Mutation_p.S357L NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) AGTCTGCTTTCATACCTTGCA 0.423000 21 49 0 0 0.00047179 0 0 NT5C1B 93034 broad.mit.edu 37 2 18757621 18757621 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:18757621C>T ENST00000304081.4 - 8 1258 c.1158G>A c.(1156-1158)gcG>gcA p.A386A NT5C1B-RDH14_ENST00000532967.1_Silent_p.A446A|NT5C1B_ENST00000359846.2_Silent_p.A446A|NT5C1B_ENST00000600945.1_Silent_p.A446A NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) CAAACATTGTCGCAGAGGCAA 0.428000 9 35 0 0 0.000274275 0 0 KRT85 3891 broad.mit.edu 37 12 52760976 52760976 + Nonsense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:52760976G>A ENST00000257901.3 - 1 289 c.214C>T c.(214-216)Cga>Tga p.R72* NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 72 Head. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) GAGCCGGCTCGGAAGCCACCT 0.697000 12 21 0 0 0.00136819 0 0 SCN9A 6335 broad.mit.edu 37 2 167129157 167129157 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:167129157C>T ENST00000303354.6 - 17 3446 c.3106G>A c.(3106-3108)Gaa>Aaa p.E1036K AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.E1036K|SCN9A_ENST00000409435.1_Missense_Mutation_p.E1035K|SCN9A_ENST00000409672.1_Missense_Mutation_p.E1024K Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1035 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) ATATAGTTTTCCTTCTTAGTA 0.353000 18 34 0 0 0.00074312 0 0 DRP2 1821 broad.mit.edu 37 X 100490968 100490968 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:100490968G>A ENST00000395209.3 + 4 764 c.237G>A c.(235-237)atG>atA p.M79I DRP2_ENST00000541709.1_Start_Codon_SNP_p.M1I|DRP2_ENST00000402866.1_Missense_Mutation_p.M79I|DRP2_ENST00000538510.1_Missense_Mutation_p.M79I NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 79 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 CACCAGCCATGAATCTGTGTT 0.517000 47 117 0 0 0.000781405 0 0 SDR42E1 93517 broad.mit.edu 37 16 82033683 82033683 + Missense_Mutation SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:82033683T>C ENST00000328945.5 - 3 342 c.215A>G c.(214-216)gAc>gGc p.D72G SDR42E1_ENST00000534209.1_5'UTR NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 72 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 ACAAGTGACGTCTGCATCCTG 0.493000 52 57 0 0 0.000781405 0 0 BLK 640 broad.mit.edu 37 8 11415549 11415549 + Splice_Site SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:11415549T>C ENST00000259089.4 + 10 1621 c.e10+2 BLK_ENST00000529894.1_Splice_Site NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) TCGGCGCAGGTTGGTGAAGTA 0.547000 19 11 0 0 0.00121646 0 0 GPR112 139378 broad.mit.edu 37 X 135430106 135430106 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:135430106C>T ENST00000394143.1 + 6 4532 c.4241C>T c.(4240-4242)tCa>tTa p.S1414L GPR112_ENST00000412101.1_Missense_Mutation_p.S1209L|GPR112_ENST00000394141.1_Missense_Mutation_p.S1209L|GPR112_ENST00000370652.1_Missense_Mutation_p.S1414L|GPR112_ENST00000287534.4_Missense_Mutation_p.S1351L NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1414 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CAGGATACTTCATTTGTAGAT 0.428000 38 81 0 0 0.000814825 0 0 OBSL1 23363 broad.mit.edu 37 2 220431639 220431639 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:220431639G>A ENST00000404537.1 - 5 2103 c.2047C>T c.(2047-2049)Ctg>Ttg p.L683L OBSL1_ENST00000265318.4_Silent_p.L683L|OBSL1_ENST00000603926.1_Silent_p.L683L|OBSL1_ENST00000373873.4_Silent_p.L683L|OBSL1_ENST00000373876.1_Silent_p.L683L|OBSL1_ENST00000289656.3_Silent_p.L270L NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 683 cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) ACGGCATGCAGGATGAGTCTG 0.622000 20 26 0 0 0.000229342 0 0 SLC26A3 1811 broad.mit.edu 37 7 107434305 107434305 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:107434305C>T ENST00000340010.5 - 3 337 c.153G>A c.(151-153)aaG>aaA p.K51K SLC26A3_ENST00000422236.2_Intron NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 51 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity p.K51K(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 GGACAATTCTCTTGGCCTTTT 0.423000 37 33 0 0 0.00111076 0 0 PPP3CA 5530 broad.mit.edu 37 4 102117259 102117259 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:102117259G>A ENST00000394854.3 - 2 756 c.73C>T c.(73-75)Cca>Tca p.P25S PPP3CA_ENST00000323055.6_Missense_Mutation_p.P25S|PPP3CA_ENST00000512215.1_Missense_Mutation_p.P25S|PPP3CA_ENST00000507176.1_Intron|PPP3CA_ENST00000394853.4_Missense_Mutation_p.P25S|PPP3CA_ENST00000523694.2_Intron NM_000944.4 NP_000935.1 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha isozyme 25 Catalytic. protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) CGGTGACTTGGAGGAAATGGA 0.393000 12 11 0 0 0.00136819 0 0 NDRG4 65009 broad.mit.edu 37 16 58538325 58538325 + Splice_Site SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:58538325G>A ENST00000394282.4 + 6 874 c.467_splice c.e6+1 p.G156_splice NDRG4_ENST00000394279.2_Splice_Site_p.G136_splice|NDRG4_ENST00000356752.4_Splice_Site_p.G134_splice|NDRG4_ENST00000569923.1_Splice_Site_p.G49_splice|NDRG4_ENST00000563799.1_Splice_Site_p.G122_splice|NDRG4_ENST00000568640.1_Splice_Site_p.G122_splice|NDRG4_ENST00000566192.1_Splice_Site_p.G104_splice|NDRG4_ENST00000562999.1_Splice_Site_p.G104_splice|NDRG4_ENST00000258187.5_Splice_Site_p.G136_splice|NDRG4_ENST00000570248.1_Splice_Site_p.G104_splice NM_001130487.1 NP_001123959.1 Q9ULP0 NDRG4_HUMAN NDRG family member 4 104 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 CAGCATTTCGGGTGAGTCCCC 0.682000 24 33 0 0 0.001512 0 0 EML5 161436 broad.mit.edu 37 14 89206850 89206850 + Nonsense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:89206850G>A ENST00000554922.1 - 5 840 c.592C>T c.(592-594)Cag>Tag p.Q198* EML5_ENST00000380664.5_Nonsense_Mutation_p.Q198*|EML5_ENST00000352093.5_Nonsense_Mutation_p.Q198* NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 198 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 AGTATTGTCTGAAGGTCACCC 0.393000 52 94 0 0 0.000781405 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502954 140502954 + Silent SNP C C T rs148427211 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:140502954C>T ENST00000194152.1 + 1 1374 c.1374C>T c.(1372-1374)ttC>ttT p.F458F NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 458 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.F458F(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACACCCTGTTCGTCCGCGAGA 0.627000 22 53 0 0 0.000409698 0 0 ZNF721 170960 broad.mit.edu 37 4 438156 438156 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:438156G>A ENST00000338977.5 - 2 112 c.64C>T c.(64-66)Ctt>Ttt p.L22F ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.L34F|ZNF721_ENST00000506646.1_Missense_Mutation_p.L66F|ABCA11P_ENST00000451020.2_RNA zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 CTCAGTATAAGTTTGTGGAAT 0.348000 43 33 0 0 0.00170553 0 0 PCLO 27445 broad.mit.edu 37 7 82584970 82584970 + Missense_Mutation SNP A A C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:82584970A>C ENST00000423517.2 - 5 5636 c.5299T>G c.(5299-5301)Ttg>Gtg p.L1767V PCLO_ENST00000333891.8_Missense_Mutation_p.L1767V NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1698 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATAGTAGGCAAAAGAGGGCCA 0.433000 48 167 0 0 0.000781405 0 0 MLXIPL 51085 broad.mit.edu 37 7 73012022 73012022 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:73012022G>A ENST00000313375.3 - 9 1140 c.1093C>T c.(1093-1095)Ccc>Tcc p.P365S MLXIPL_ENST00000354613.1_Missense_Mutation_p.P365S|MLXIPL_ENST00000395189.1_Missense_Mutation_p.P272S|MLXIPL_ENST00000414749.2_Missense_Mutation_p.P365S|MLXIPL_ENST00000429400.2_Missense_Mutation_p.P365S|MLXIPL_ENST00000434326.1_Missense_Mutation_p.P272S NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 365 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) GAGTCCAAGGGGCCAGGGCAG 0.647000 21 23 0 0 0.000586117 0 0 SVEP1 79987 broad.mit.edu 37 9 113192603 113192603 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:113192603G>A ENST00000401783.2 - 33 5817 c.5481C>T c.(5479-5481)atC>atT p.I1827I SVEP1_ENST00000374469.1_Silent_p.I1804I NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1827 Sushi 7. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CCAAACATGTGATTTTGGTTA 0.398000 10 6 0 0 0.000978159 0 0 ZSCAN25 221785 broad.mit.edu 37 7 99221679 99221679 + Splice_Site SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:99221679G>A ENST00000394152.2 + 7 1008 c.e7-1 ZSCAN25_ENST00000262941.6_Intron|ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000334715.3_Splice_Site NM_145115.2 NP_660090.2 zinc finger and SCAN domain containing 25 TATTGTTGCAGGGGTTGGGGC 0.512000 44 96 0 0 0.000781405 0 0 ZNF470 388566 broad.mit.edu 37 19 57085765 57085765 + Silent SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:57085765T>C ENST00000330619.8 + 4 749 c.63T>C c.(61-63)ggT>ggC p.G21G ZNF470_ENST00000601902.1_Silent_p.G21G|ZNF470_ENST00000391709.3_Silent_p.G21G NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 21 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) CATTTTAGGGTTCAGTGACTT 0.403000 15 42 0 0 0.00074312 0 0 GPR98 84059 broad.mit.edu 37 5 89949088 89949088 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:89949088C>T ENST00000405460.2 + 20 3793 c.3697C>T c.(3697-3699)Cca>Tca p.P1233S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1233 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGTAATGGTTCCATTCAATGA 0.423000 12 28 0 0 0.000978159 0 0 PCLO 27445 broad.mit.edu 37 7 82785303 82785303 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:82785303C>T ENST00000423517.2 - 2 991 c.654G>A c.(652-654)ccG>ccA p.P218P PCLO_ENST00000333891.8_Silent_p.P218P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 218 Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.P218P(2) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GCTTAGGAATCGGCTTGGGTG 0.448000 26 15 0 0 0.00106085 0 0 DEC1 50514 broad.mit.edu 37 9 118162656 118162656 + Nonsense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:118162656G>A ENST00000374016.1 + 6 551 c.32G>A c.(31-33)tGg>tAg p.W11* NM_017418.2 NP_059114.1 Q9P2X7 DEC1_HUMAN deleted in esophageal cancer 1 11 negative regulation of cell proliferation kidney(1)|large_intestine(1)|ovary(1) 3 gctgggaagtggaagagcatt 0.438000 20 16 0 0 0.00152264 0 0 C9orf135 138255 broad.mit.edu 37 9 72471531 72471531 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:72471531G>A ENST00000377197.3 + 3 409 c.322G>A c.(322-324)Gaa>Aaa p.E108K C9orf135_ENST00000527647.1_Missense_Mutation_p.E108K|C9orf135_ENST00000466872.2_3'UTR NM_001010940.1 NP_001010940.1 Q5VTT2 CI135_HUMAN chromosome 9 open reading frame 135 108 integral to membrane endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 AGAATGGGTTGAAATGAAGAG 0.338000 19 13 0 0 0.00152264 0 0 ERN1 2081 broad.mit.edu 37 17 62137861 62137861 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:62137861G>A ENST00000433197.2 - 11 1269 c.1174C>T c.(1174-1176)Cct>Tct p.P392S NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 392 activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 GAATCAGCAGGAATCACATTT 0.483000 31 59 0 0 0.000814825 0 0 ZNF519 162655 broad.mit.edu 37 18 14124377 14124377 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr18:14124377C>T ENST00000589498.1 - 2 252 c.102G>A c.(100-102)ttG>ttA p.L34L ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000590202.1_Silent_p.L34L Q8TB69 ZN519_HUMAN zinc finger protein 519 34 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 18 TGTAGTTCTCCAACATCACAT 0.403000 5 42 0 0 0.000602214 0 0 PASK 23178 broad.mit.edu 37 2 242075323 242075323 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:242075323G>A ENST00000403638.3 - 8 1360 c.1269C>T c.(1267-1269)gaC>gaT p.D423D PASK_ENST00000544142.1_Silent_p.D237D|PASK_ENST00000539818.1_Silent_p.D207D|PASK_ENST00000234040.4_Silent_p.D423D|PASK_ENST00000358649.4_Silent_p.D423D|PASK_ENST00000405260.1_Silent_p.D423D NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 423 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) CCTGCCACGGGTCCAAGGTTC 0.627000 38 52 0 0 0.00111076 0 0 FAM47A 158724 broad.mit.edu 37 X 34148503 34148503 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:34148503A>T ENST00000346193.3 - 1 1944 c.1893T>A c.(1891-1893)ttT>ttA p.F631L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 631 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 ACTTGGGGGTAAAGTCAAACA 0.438000 30 43 0 0 0.001512 0 0 TRPM4 54795 broad.mit.edu 37 19 49671865 49671865 + Missense_Mutation SNP T T G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:49671865T>G ENST00000252826.5 + 6 794 c.668T>G c.(667-669)tTt>tGt p.F223C TRPM4_ENST00000355712.5_5'UTR|TRPM4_ENST00000427978.2_Missense_Mutation_p.F223C NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 223 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GGGGTCCAGTTTCCCCTGGAC 0.662000 9 23 0 0 0.000673444 0 0 PCNP 57092 broad.mit.edu 37 3 101311501 101311501 + Missense_Mutation SNP C C T rs17851951 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:101311501C>T ENST00000296024.5 + 4 405 c.385C>T c.(385-387)Ctt>Ttt p.L129F PCNP_ENST00000469941.1_Silent_p.S24S|PCNP_ENST00000265260.3_Silent_p.S147S|PCNP_ENST00000486406.1_3'UTR Q8WW12 PCNP_HUMAN PEST proteolytic signal containing nuclear protein 0 cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination nucleus protein binding large_intestine(1)|lung(1) 2 GACCAAACTCCTTCAATAAAG 0.333000 28 51 0 0 0.00058488 0 0 SPTBN5 51332 broad.mit.edu 37 15 42171653 42171653 + Missense_Mutation SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:42171653A>G ENST00000320955.6 - 16 3214 c.2987T>C c.(2986-2988)cTg>cCg p.L996P NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 996 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) ACTGTGTGCCAGCTGCACGGC 0.637000 4 1 0 0 0.00024832 0 0 FAM135B 51059 broad.mit.edu 37 8 139165229 139165229 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:139165229C>T ENST00000395297.1 - 13 1659 c.1489G>A c.(1489-1491)Gaa>Aaa p.E497K NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 497 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACCTGAGATTCAGAGCACATG 0.418000 HNSCC(54;0.14) 42 58 0 0 0.00128727 0 0 RINL 126432 broad.mit.edu 37 19 39362287 39362287 + Splice_Site SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:39362287C>T ENST00000340740.3 - 6 496 c.109_splice c.e6+1 p.D37_splice RINL_ENST00000598904.1_Splice_Site_p.D37_splice|RINL_ENST00000591812.1_Splice_Site_p.D151_splice|CTC-360G5.6_ENST00000593830.1_RNA NM_001195833.1|NM_198445.3 NP_001182762.1|NP_940847.1 Q6ZS11 RINL_HUMAN Ras and Rab interactor-like 37 GTPase activator activity endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2) 17 CGTGCCTCACCTGTGTGTTCA 0.562000 15 57 0 0 0.000422831 0 0 DSCAM 1826 broad.mit.edu 37 21 42080671 42080671 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr21:42080671G>A ENST00000400454.1 - 2 547 c.70C>T c.(70-72)Ctc>Ttc p.L24F NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 24 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ACAAAGTAGAGGCTGGAGTGT 0.517000 33 65 0 0 0.000692331 0 0 MAP3K3 4215 broad.mit.edu 37 17 61768530 61768530 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:61768530C>T ENST00000361357.3 + 14 1692 c.1374C>T c.(1372-1374)taC>taT p.Y458Y MAP3K3_ENST00000579585.1_Silent_p.Y458Y|MAP3K3_ENST00000577395.1_Silent_p.Y423Y|MAP3K3_ENST00000361733.3_Silent_p.Y427Y|MAP3K3_ENST00000584573.1_Silent_p.Y454Y NM_203351.1 NP_976226.1 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 427 Protein kinase. MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 TCGTGCAGTACTATGGCTGTC 0.562000 17 31 0 0 0.000958276 0 0 CD53 963 broad.mit.edu 37 1 111437015 111437015 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:111437015G>A ENST00000271324.5 + 4 431 c.319G>A c.(319-321)Gaa>Aaa p.E107K CD53_ENST00000429072.2_Missense_Mutation_p.E107K|CD53_ENST00000497404.1_3'UTR NM_000560.3|NM_001040033.1 NP_000551.1|NP_001035122.1 P19397 CD53_HUMAN CD53 molecule 107 signal transduction integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 17 all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144) CTTTGTATATGAACAGAAGGT 0.408000 22 59 0 0 0.00047179 0 0 MYO15A 51168 broad.mit.edu 37 17 18022911 18022911 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:18022911C>T ENST00000205890.5 + 2 1135 c.797C>T c.(796-798)cCc>cTc p.P266L NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 266 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GGCCTCGGCCCCTACAGCCCG 0.642000 11 23 0 0 0.00136819 0 0 KIF17 57576 broad.mit.edu 37 1 20996944 20996944 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:20996944G>A ENST00000247986.2 - 13 3073 c.2763C>T c.(2761-2763)acC>acT p.T921T KIF17_ENST00000400463.3_Silent_p.T920T|KIF17_ENST00000375044.1_Silent_p.T821T|KIF17_ENST00000490034.1_5'UTR Q9P2E2 KIF17_HUMAN kinesin family member 17 921 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CTGCTGCAGAGGTTTTGCGGG 0.597000 23 55 0 0 0.00106085 0 0 PHYH 5264 broad.mit.edu 37 10 13323103 13323103 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:13323103G>A ENST00000396920.3 - 8 1189 c.785C>T c.(784-786)tCc>tTc p.S262F PHYH_ENST00000396913.2_Missense_Mutation_p.S179F|PHYH_ENST00000263038.4_Missense_Mutation_p.S279F O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase 279 fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 25 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) GAAATGGCAGGAAATTGCCTG 0.403000 21 11 0 0 0.00121646 0 0 CAPN12 147968 broad.mit.edu 37 19 39232476 39232476 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:39232476G>A ENST00000328867.4 - 4 809 c.501C>T c.(499-501)ttC>ttT p.F167F CAPN12_ENST00000601953.1_Silent_p.F18F NM_144691.3 NP_653292.2 Q6ZSI9 CAN12_HUMAN calpain 12 167 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(60;2.87e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) CCGAGCGCACGAACATCAGCT 0.632000 10 19 0 0 0.000673444 0 0 TCTE1 202500 broad.mit.edu 37 6 44253959 44253959 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:44253959G>A ENST00000371505.4 - 3 710 c.588C>T c.(586-588)ttC>ttT p.F196F TCTE1_ENST00000371503.3_Silent_p.F43F|TCTE1_ENST00000371504.1_Silent_p.F43F|TMEM151B_ENST00000438774.2_Intron NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 196 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CCGGCGGAAGGAACTGATCGA 0.647000 18 30 0 0 0.00121646 0 0 MIR1283-1 100302265 broad.mit.edu 37 19 54191781 54191781 + RNA SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:54191781G>A ENST00000408494.1 + 0 47 NR_031573.1 TTGTCAGAAAGAAGAGAAAGC 0.423000 20 40 0 0 0.000295444 0 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047570 46047570 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr21:46047570C>T ENST00000397911.3 + 1 531 c.482C>T c.(481-483)tCa>tTa p.S161L TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron NM_198690.2 NP_941963.2 P60411 KR109_HUMAN keratin associated protein 10-9 161 25 X 5 AA repeats of C-C-X(3). keratin filament endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 GATTCCTATTCATGCTGCCAA 0.602000 46 112 0 0 0.000781405 0 0 ZNF573 126231 broad.mit.edu 37 19 38229711 38229711 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:38229711C>T ENST00000339503.4 - 8 2007 c.1506G>A c.(1504-1506)ggG>ggA p.G502G ZNF573_ENST00000536220.1_Silent_p.G472G|ZNF573_ENST00000357309.3_Silent_p.G472G|ZNF573_ENST00000392138.1_Silent_p.G473G|ZNF573_ENST00000590414.2_Silent_p.G560G NM_152360.3 NP_689573.3 Q86YE8 ZN573_HUMAN zinc finger protein 573 540 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) TAAAGGTCTTCCCACATTCCT 0.338000 30 32 0 0 0.000409698 0 0 GPRC6A 222545 broad.mit.edu 37 6 117116901 117116901 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:117116901G>A ENST00000310357.3 - 5 1667 c.1646C>T c.(1645-1647)cCt>cTt p.P549L GPRC6A_ENST00000368549.3_Missense_Mutation_p.P478L|GPRC6A_ENST00000530250.1_Missense_Mutation_p.P374L NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 549 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) ATGATTTTCAGGACAGTTCTG 0.358000 24 47 0 0 0.000720815 0 0 TRANK1 9881 broad.mit.edu 37 3 36899226 36899226 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:36899226G>A ENST00000301807.6 - 12 2102 c.205C>T c.(205-207)Cac>Tac p.H69Y TRANK1_ENST00000428977.2_Missense_Mutation_p.H69Y|TRANK1_ENST00000429976.2_Missense_Mutation_p.H619Y NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 619 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TTCCCCAGGTGGGCAGCAGAG 0.567000 39 75 0 0 0.00128727 0 0 THSD7B 80731 broad.mit.edu 37 2 138400065 138400065 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:138400065G>A ENST00000409968.1 + 21 3985 c.3807G>A c.(3805-3807)atG>atA p.M1269I THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.M1272I|THSD7B_ENST00000413152.2_Missense_Mutation_p.M1241I thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TAGGTCGAATGAGCCGGACTC 0.483000 36 83 0 0 0.00111076 0 0 KIF26B 55083 broad.mit.edu 37 1 245775268 245775268 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:245775268G>A ENST00000366518.4 + 6 1049 c.945G>A c.(943-945)ggG>ggA p.G315G KIF26B_ENST00000407071.2_Silent_p.G696G Q2KJY2 KI26B_HUMAN kinesin family member 26B 696 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) AGAAGAGCGGGAAAGGGGGAA 0.587000 11 39 0 0 0.000151284 0 0 MIB2 142678 broad.mit.edu 37 1 1565078 1565078 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:1565078C>T ENST00000357210.4 + 19 3013 c.2797C>T c.(2797-2799)Cgc>Tgc p.R933C MIB2_ENST00000378710.3_Missense_Mutation_p.R897C|MIB2_ENST00000518681.1_Missense_Mutation_p.R925C|MIB2_ENST00000355826.5_Missense_Mutation_p.R976C|MIB2_ENST00000505820.2_Missense_Mutation_p.R990C|MIB2_ENST00000504599.1_Missense_Mutation_p.R889C|MIB2_ENST00000378712.1_Missense_Mutation_p.A749V|MIB2_ENST00000378708.1_Missense_Mutation_p.R839C|MIB2_ENST00000360522.4_Missense_Mutation_p.R898C|MIB2_ENST00000520777.1_Missense_Mutation_p.R986C NM_080875.2 NP_543151.2 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 933 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CAAGAAACTGCGCCCAGGTGG 0.682000 6 8 0 0 0.000157383 0 0 NF1 4763 broad.mit.edu 37 17 29665142 29665142 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:29665142C>T ENST00000358273.4 + 45 7187 c.6804C>T c.(6802-6804)atC>atT p.I2268I NF1_ENST00000356175.3_Silent_p.I2247I|NF1_ENST00000444181.2_Silent_p.I61I|NF1_ENST00000417592.2_Intron NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2268 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AGCAGATAATCCGTATTCTTA 0.388000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 47 79 0 0 0.000781405 0 0 MYO1D 4642 broad.mit.edu 37 17 31039087 31039087 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:31039087G>A ENST00000318217.5 - 16 2344 c.2040C>T c.(2038-2040)ttC>ttT p.F680F MYO1D_ENST00000394649.4_Silent_p.F592F|MYO1D_ENST00000579584.1_Silent_p.F680F NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 680 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) GTGTTCGAATGAAAATTTTGG 0.403000 78 85 0 0 0.000781405 0 0 CASR 846 broad.mit.edu 37 3 121976192 121976192 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:121976192C>T ENST00000498619.1 + 3 888 c.450C>T c.(448-450)tcC>tcT p.S150S CASR_ENST00000490131.1_Silent_p.S150S|CASR_ENST00000296154.5_Silent_p.S150S NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 150 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CAGGCGTCTCCACGGCAGTGG 0.532000 25 36 0 0 0.00106085 0 0 OR5AU1 390445 broad.mit.edu 37 14 21623432 21623432 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:21623432G>A ENST00000304418.3 - 1 790 c.753C>T c.(751-753)ttC>ttT p.F251F NM_001004731.1 NP_001004731.1 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, member 1 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) CAGCAAAAATGAAGAGCAGGA 0.488000 21 28 0 0 0.000295444 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140718655 140718655 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:140718655C>T ENST00000394576.2 + 1 117 c.117C>T c.(115-117)atC>atT p.I39I PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGAAGAGATCGACAGAGGCT 0.607000 OREG0016854 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 36 0 0 0.000566183 0 0 ARHGEF16 27237 broad.mit.edu 37 1 3397060 3397060 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:3397060C>T ENST00000378378.4 + 15 2444 c.2039C>T c.(2038-2040)cCc>cTc p.P680L ARHGEF16_ENST00000413250.2_Missense_Mutation_p.P384L|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.P392L|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.P392L NM_014448.3 NP_055263.2 Q5VV41 ARHGG_HUMAN Rho guanine nucleotide exchange factor (GEF) 16 680 SH3. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GGATGGTTCCCCGAGGACTTT 0.677000 11 27 0 0 0.000151284 0 0 CD1E 913 broad.mit.edu 37 1 158325209 158325209 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:158325209C>T ENST00000444681.2 + 2 471 c.178C>T c.(178-180)Cca>Tca p.P60S CD1E_ENST00000452291.2_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.P157S|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.P159S|CD1E_ENST00000368161.3_Missense_Mutation_p.P159S|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.P159S|CD1E_ENST00000368167.3_Missense_Mutation_p.P159S|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368164.3_Intron NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 159 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) GGAGCCATCTCCAGGAGCAGG 0.468000 27 55 0 0 0.00127121 0 0 EFTUD1 79631 broad.mit.edu 37 15 82456243 82456243 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:82456243G>A ENST00000268206.7 - 16 2001 c.1833C>T c.(1831-1833)aaC>aaT p.N611N EFTUD1_ENST00000359445.3_Silent_p.N560N NM_024580.5 NP_078856.4 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain containing 1 611 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 TGGCTTCGAAGTTGAGTGGTA 0.388000 12 32 0 0 0.000219431 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155920998 155920998 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:155920998C>T ENST00000368316.1 - 24 2711 c.2241G>A c.(2239-2241)gaG>gaA p.E747E ARHGEF2_ENST00000368315.3_Silent_p.E776E|ARHGEF2_ENST00000361247.4_Silent_p.E775E|ARHGEF2_ENST00000313667.4_Silent_p.E774E|ARHGEF2_ENST00000313695.7_Silent_p.E747E Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 775 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) GGCACAGCTTCTCCCGCCGCT 0.642000 7 17 0 0 8.12818e-05 0 0 HMCN1 83872 broad.mit.edu 37 1 186043883 186043883 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:186043883C>T ENST00000271588.4 + 53 8379 c.8150C>T c.(8149-8151)tCc>tTc p.S2717F HMCN1_ENST00000367492.2_Missense_Mutation_p.S2717F NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2717 Ig-like C2-type 25. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CCCCTTAAATCCGATGATCAT 0.353000 15 29 0 0 0.00074312 0 0 GNAS 2778 broad.mit.edu 37 20 57428697 57428697 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:57428697G>A ENST00000371100.4 + 1 929 c.377G>A c.(376-378)gGg>gAg p.G126E GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Missense_Mutation_p.G126E|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.G63R|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.G126E|GNAS_ENST00000371098.2_Intron NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) TTCCCCAGTGGGGTCCATGCA 0.632000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 9 28 0 0 0.000673444 0 0 MAGI2 9863 broad.mit.edu 37 7 77708295 77708295 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:77708295G>A ENST00000354212.4 - 21 3928 c.3675C>T c.(3673-3675)ctC>ctT p.L1225L MAGI2_ENST00000419488.1_Silent_p.L1211L|MAGI2_ENST00000522391.1_Silent_p.L1225L NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 1225 PDZ 6. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGCCTCTCTTGAGCAGCAGCC 0.433000 66 117 0 0 0.000781405 0 0 FAM53A 152877 broad.mit.edu 37 4 1656818 1656818 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:1656818G>A ENST00000308132.6 - 4 961 c.769C>T c.(769-771)Cgg>Tgg p.R257W FAM53A_ENST00000461064.1_Missense_Mutation_p.R257W|FAM53A_ENST00000472884.2_Missense_Mutation_p.R257W|FAM53A_ENST00000489363.1_Missense_Mutation_p.R257W NM_001174070.1 NP_001167541.1 Q6NSI3 FA53A_HUMAN family with sequence similarity 53, member A 257 nucleus breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) GAGCGGCACCGGAGCAGCCCA 0.716000 13 10 0 0 0.00136819 0 0 NPY1R 4886 broad.mit.edu 37 4 164247360 164247360 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:164247360T>A ENST00000296533.2 - 2 878 c.347A>T c.(346-348)aAt>aTt p.N116I NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 116 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CACAAAAGGATTCAACTTACA 0.448000 10 7 0 0 0.000673444 0 0 USP29 57663 broad.mit.edu 37 19 57640096 57640096 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:57640096G>A ENST00000254181.4 + 4 507 c.53G>A c.(52-54)gGg>gAg p.G18E USP29_ENST00000598197.1_Missense_Mutation_p.G18E NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 18 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) CAGAAGACTGGGATGACTAAG 0.343000 22 31 0 0 0.000375601 0 0 IL13RA2 3598 broad.mit.edu 37 X 114242621 114242621 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:114242621C>T ENST00000371936.1 - 9 1120 c.871G>A c.(871-873)Gaa>Aaa p.E291K IL13RA2_ENST00000243213.1_Missense_Mutation_p.E291K Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 291 Fibronectin type-III 3. extracellular space|integral to membrane|soluble fraction cytokine receptor activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 23 GTGTATGTTTCATTTTCAACT 0.363000 32 55 0 0 0.000409698 0 0 FGFR3 2261 broad.mit.edu 37 4 1801058 1801058 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:1801058C>T ENST00000340107.4 + 3 443 c.187C>T c.(187-189)Ccg>Tcg p.P63S FGFR3_ENST00000352904.1_Missense_Mutation_p.P63S|FGFR3_ENST00000412135.2_Missense_Mutation_p.P63S|FGFR3_ENST00000260795.2_Missense_Mutation_p.P63S|FGFR3_ENST00000481110.2_Missense_Mutation_p.P63S|FGFR3_ENST00000440486.2_Missense_Mutation_p.P63S NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 63 Ig-like C2-type 1. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) GAGCTGTCCCCCGCCCGGGGG 0.697000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 56 34 0 0 0.000781405 0 0 LRRC43 254050 broad.mit.edu 37 12 122669150 122669150 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:122669150G>A ENST00000339777.4 + 2 263 c.235G>A c.(235-237)Gag>Aag p.E79K LRRC43_ENST00000425921.1_5'UTR NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 79 NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) CCCCGGAGAGGAGACGGTGGA 0.597000 9 16 0 0 0.000274275 0 0 SDK1 221935 broad.mit.edu 37 7 4050701 4050701 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:4050701G>A ENST00000404826.2 + 15 2374 c.2235G>A c.(2233-2235)gcG>gcA p.A745A SDK1_ENST00000389531.3_Silent_p.A745A NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 745 Fibronectin type-III 1. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GGGTGTGCGCGGTGAATGAAG 0.622000 9 24 0 0 0.000274275 0 0 ACSS1 84532 broad.mit.edu 37 20 25000673 25000673 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:25000673G>A ENST00000537502.1 - 5 2501 c.970C>T c.(970-972)Cgc>Tgc p.R324C ACSS1_ENST00000542618.1_Missense_Mutation_p.R286C|ACSS1_ENST00000323482.4_Missense_Mutation_p.R407C|ACSS1_ENST00000432802.2_Missense_Mutation_p.R407C Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 407 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) AGGGAGGAGCGATCATACTTC 0.587000 29 52 0 0 0.001512 0 0 HR 55806 broad.mit.edu 37 8 21986542 21986542 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:21986542G>A ENST00000381418.4 - 2 1622 c.142C>T c.(142-144)Ccc>Tcc p.P48S HR_ENST00000312841.8_Missense_Mutation_p.P48S NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 48 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CTCCAAAAGGGAGCAGGCTCT 0.687000 12 24 0 0 0.00136819 0 0 IFNA8 3445 broad.mit.edu 37 9 21409388 21409388 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:21409388C>T ENST00000380205.1 + 1 243 c.213C>T c.(211-213)ttC>ttT p.F71F NM_002170.3 NP_002161.2 P32881 IFNA8_HUMAN interferon, alpha 8 71 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 9 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174) ATAAACAGTTCCAGAAGGCTC 0.483000 35 22 0 0 0.000491102 0 0 DDO 8528 broad.mit.edu 37 6 110734509 110734509 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:110734509G>A ENST00000368924.3 - 2 256 c.241C>T c.(241-243)Cct>Tct p.P81S DDO_ENST00000368923.3_Missense_Mutation_p.P81S|DDO_ENST00000368925.1_Missense_Mutation_p.P53S NM_003649.2 NP_003640.2 Q99489 OXDD_HUMAN D-aspartate oxidase 53 aspartate catabolic process peroxisome binding|D-amino-acid oxidase activity|D-aspartate oxidase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3) 24 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) TAAGTGTGAGGAATAAGCATT 0.443000 32 40 0 0 0.00058488 0 0 STON2 85439 broad.mit.edu 37 14 81837403 81837403 + Missense_Mutation SNP G G A rs146988761 byFrequency TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:81837403G>A ENST00000555447.1 - 5 912 c.500C>T c.(499-501)tCg>tTg p.S167L STON2_ENST00000267540.2_Missense_Mutation_p.S167L NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 167 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) ATCTGTATACGAACATCCAAA 0.542000 46 64 0 0 0.000781405 0 0 ZNF827 152485 broad.mit.edu 37 4 146823846 146823846 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:146823846A>T ENST00000508784.1 - 2 792 c.565T>A c.(565-567)Ttt>Att p.F189I ZNF827_ENST00000379448.4_Missense_Mutation_p.F189I|ZNF827_ENST00000513320.1_Intron Q17R98 ZN827_HUMAN zinc finger protein 827 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) TTCCATATAAAACGGTTACTT 0.517000 26 16 0 0 0.000586117 0 0 RBM22 55696 broad.mit.edu 37 5 150071404 150071404 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:150071404G>A ENST00000199814.4 - 11 1293 c.1172C>T c.(1171-1173)cCt>cTt p.P391L RBM22_ENST00000447771.2_Missense_Mutation_p.P342L|RBM22_ENST00000540000.1_Missense_Mutation_p.P342L NM_018047.2 NP_060517.1 Q9NW64 RBM22_HUMAN RNA binding motif protein 22 391 Pro-rich. protein import into nucleus, translocation catalytic step 2 spliceosome|cytoplasm calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1) 17 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CATGAAAGGAGGGGGTGGTCC 0.522000 22 43 0 0 0.000586117 0 0 C19orf33 64073 broad.mit.edu 37 19 38795267 38795267 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:38795267G>A ENST00000591889.1 + 5 404 c.404G>A c.(403-405)aGg>aAg p.R135K C19orf33_ENST00000301246.5_Missense_Mutation_p.G48R|C19orf33_ENST00000588605.1_Silent_p.K67K CATCCAGCAAGGACACCACAG 0.657000 16 19 0 0 0.00074312 0 0 ZNF813 126017 broad.mit.edu 37 19 53994690 53994690 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:53994690C>T ENST00000396403.4 + 4 1332 c.1204C>T c.(1204-1206)Cgt>Tgt p.R402C ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 402 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) TAAATGCCATCGTAGACTTCA 0.408000 24 27 0 0 0.00047179 0 0 RHOB 388 broad.mit.edu 37 2 20647414 20647414 + Missense_Mutation SNP A A C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:20647414A>C ENST00000272233.4 + 1 580 c.188A>C c.(187-189)cAg>cCg p.Q63P NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 63 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) ACGGCGGGCCAGGAGGACTAC 0.647000 17 37 0 0 0.000566183 0 0 OR5H14 403273 broad.mit.edu 37 3 97868711 97868711 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:97868711G>A ENST00000437310.1 + 1 542 c.482G>A c.(481-483)gGa>gAa p.G161E NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 ATCCATGAAGGATTTTTATTC 0.348000 39 79 0 0 0.000953801 0 0 PAAF1 80227 broad.mit.edu 37 11 73602227 73602227 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:73602227C>T ENST00000544909.1 + 2 523 c.266C>T c.(265-267)tCc>tTc p.S89F PAAF1_ENST00000535604.1_5'UTR|PAAF1_ENST00000310571.3_Missense_Mutation_p.S88F|PAAF1_ENST00000543079.1_3'UTR|PAAF1_ENST00000541951.1_5'UTR|PAAF1_ENST00000544552.1_Missense_Mutation_p.S71F|PAAF1_ENST00000536003.1_Missense_Mutation_p.S71F|PAAF1_ENST00000376384.5_Missense_Mutation_p.S71F Q9BRP4 PAAF1_HUMAN proteasomal ATPase-associated factor 1 88 interspecies interaction between organisms proteasome complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(11;7.42e-05) ACTACTTTTTCCAGAATTCAT 0.284000 21 14 0 0 0.000229342 0 0 TAOK3 51347 broad.mit.edu 37 12 118693341 118693341 + Missense_Mutation SNP A A G rs61945215 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:118693341A>G ENST00000392533.3 - 3 522 c.32T>C c.(31-33)aTt>aCt p.I11T TAOK3_ENST00000419821.2_Missense_Mutation_p.I11T NM_016281.3 NP_057365.3 Q9H2K8 TAOK3_HUMAN TAO kinase 3 11 MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity central_nervous_system(1)|lung(5)|skin(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TAGATCGGCAATCTCTGGGTC 0.378000 51 103 0 0 0.000781405 0 0 MGAT5B 146664 broad.mit.edu 37 17 74942495 74942495 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:74942495G>A ENST00000569840.2 + 16 2460 c.1886G>A c.(1885-1887)gGg>gAg p.G629E MGAT5B_ENST00000301618.4_Missense_Mutation_p.G627E|MGAT5B_ENST00000428789.2_Missense_Mutation_p.G638E NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 629 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACCTGCGAGGGGATGCTGGAG 0.662000 7 21 0 0 0.000442599 0 0 UMODL1 89766 broad.mit.edu 37 21 43531574 43531574 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr21:43531574C>T ENST00000400427.1 + 11 2422 c.2026C>T c.(2026-2028)Cct>Tct p.P676S UMODL1_ENST00000400424.1_Intron|UMODL1_ENST00000408989.2_Missense_Mutation_p.P748S|UMODL1_ENST00000408910.2_Intron NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 681 cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 CCACAGCTTCCCTCCTGGGGC 0.647000 8 27 0 0 0.000274275 0 0 CDH17 1015 broad.mit.edu 37 8 95183151 95183151 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:95183151G>A ENST00000027335.3 - 8 970 c.846C>T c.(844-846)ttC>ttT p.F282F CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.F282F NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 282 Cadherin 3. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TTGAAAATGGGAATCTTGGCA 0.463000 48 82 0 0 0.000781405 0 0 ZNF99 7652 broad.mit.edu 37 19 22941413 22941413 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:22941413G>A ENST00000397104.3 - 5 1024 c.1025C>T c.(1024-1026)gCt>gTt p.A342V ZNF99_ENST00000596209.1_Missense_Mutation_p.A433V zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) ACGCTTAAAAGCTTTGCCACA 0.363000 18 32 0 0 0.000229342 0 0 KSR2 283455 broad.mit.edu 37 12 117968819 117968819 + Splice_Site SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:117968819C>T ENST00000425217.1 - 12 1697 c.e12-1 KSR2_ENST00000545002.1_Splice_Site|KSR2_ENST00000302438.5_Splice_Site|KSR2_ENST00000339824.5_Splice_Site NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGCACCACATCTGAAAACCAG 0.547000 45 91 0 0 0.000781405 0 0 HAND1 9421 broad.mit.edu 37 5 153855395 153855395 + Nonsense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:153855395G>A ENST00000231121.2 - 2 874 c.619C>T c.(619-621)Caa>Taa p.Q207* NM_004821.2 NP_004812.1 O96004 HAND1_HUMAN heart and neural crest derivatives expressed 1 207 angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis cytoplasm|nucleolus|nucleoplasm bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 6 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GCCCAGACTTGCTGCGGCCAG 0.637000 14 26 0 0 0.000566183 0 0 CYP1A2 1544 broad.mit.edu 37 15 75047291 75047291 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:75047291C>T ENST00000343932.4 + 7 1476 c.1413C>T c.(1411-1413)ttC>ttT p.F471F NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 471 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) TCTTCCTCTTCCTGGCCATCC 0.592000 23 37 0 0 0.000586117 0 0 MDN1 23195 broad.mit.edu 37 6 90380733 90380733 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:90380733C>T ENST00000369393.3 - 83 13976 c.13861G>A c.(13861-13863)Gtc>Atc p.V4621I MDN1_ENST00000428876.1_Missense_Mutation_p.V4621I|MDN1_ENST00000468568.1_5'UTR Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4621 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AAGAAGAGGACGAGGTCTGAG 0.522000 21 52 0 0 0.00121646 0 0 TYRO3 7301 broad.mit.edu 37 15 41854889 41854889 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:41854889C>T ENST00000263798.3 + 4 777 c.553C>T c.(553-555)Ccc>Tcc p.P185S TYRO3_ENST00000559066.1_Missense_Mutation_p.P140S NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 185 Ig-like C2-type 2. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GGGACCCGCTCCCTCTCCATC 0.567000 5 10 0 0 0.000602214 0 0 PLCL1 5334 broad.mit.edu 37 2 198949555 198949555 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:198949555C>T ENST00000428675.1 + 2 1712 c.1314C>T c.(1312-1314)ggC>ggT p.G438G PLCL1_ENST00000437704.2_Silent_p.G340G NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 438 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) TGAAAATGGGCTGTCGAAGCG 0.413000 28 47 0 0 0.00106085 0 0 ZNF750 79755 broad.mit.edu 37 17 80790255 80790255 + Missense_Mutation SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:80790255T>C ENST00000269394.3 - 2 909 c.76A>G c.(76-78)Aaa>Gaa p.K26E TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 26 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TGGAAACATTTATACTTGAAG 0.408000 31 65 0 0 0.00058488 0 0 SNAP25 6616 broad.mit.edu 37 20 10273890 10273890 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:10273890G>A ENST00000254976.2 + 5 456 c.245G>A c.(244-246)gGa>gAa p.G82E SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000304886.2_Intron|SNAP25-AS1_ENST00000453544.1_RNA NM_130811.2 NP_570824.1 P60880 SNP25_HUMAN synaptosomal-associated protein, 25kDa 82 energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 18 Botulinum Toxin Type A(DB00083) ACGGACCTAGGAAAATTCTGC 0.458000 31 51 0 0 0.001512 0 0 RPTN 126638 broad.mit.edu 37 1 152129438 152129438 + Splice_Site SNP T T G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:152129438T>G ENST00000316073.3 - 3 203 c.e3-2 NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ATTTGGTCTCTGTTAGGAGAT 0.433000 33 30 0 0 0.000814825 0 0 SLC34A3 142680 broad.mit.edu 37 9 140126206 140126206 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:140126206G>A ENST00000538474.1 + 2 276 c.52G>A c.(52-54)Gtt>Att p.V18I SLC34A3_ENST00000361134.2_Missense_Mutation_p.V18I NM_001177316.1|NM_001177317.1 NP_001170787.1|NP_001170788.1 Q8N130 NPT2C_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 3 18 cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) TCTGGACGCGGTTGACCTAGT 0.642000 31 20 0 0 0.00128727 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820931 35820931 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:35820931G>A ENST00000399989.1 + 2 897 c.618G>A c.(616-618)ctG>ctA p.L206L MAGEB16_ENST00000399985.1_Silent_p.L206L|MAGEB16_ENST00000399992.1_Silent_p.L238L|MAGEB16_ENST00000399988.1_Silent_p.L206L|MAGEB16_ENST00000399987.1_Silent_p.L206L NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 206 MAGE. breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 CTGGCCTCCTGATAATTGTCC 0.522000 18 35 0 0 0.000375601 0 0 ABCC6 368 broad.mit.edu 37 16 16284138 16284138 + Nonsense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:16284138C>T ENST00000205557.7 - 12 1547 c.1518G>A c.(1516-1518)tgG>tgA p.W506* ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 506 ABC transmembrane type-1 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) AGGCTCCCTCCCAGCCATGGA 0.622000 23 32 0 0 0.00047179 0 0 CIR1 9541 broad.mit.edu 37 2 175243705 175243705 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:175243705G>A ENST00000342016.3 - 7 522 c.430C>T c.(430-432)Cct>Tct p.P144S CIR1_ENST00000362053.5_Missense_Mutation_p.P144S NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 144 mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 CCAAACAAAGGACATTCTCGA 0.403000 27 53 0 0 0.000720815 0 0 PUM2 23369 broad.mit.edu 37 2 20455081 20455081 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:20455081G>A ENST00000361078.2 - 17 2672 c.2650C>T c.(2650-2652)Cct>Tct p.P884S PUM2_ENST00000536417.1_Missense_Mutation_p.P826S|PUM2_ENST00000338086.5_Missense_Mutation_p.P882S|PUM2_ENST00000319801.5_Missense_Mutation_p.P805S|PUM2_ENST00000403432.1_Missense_Mutation_p.P882S Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 884 PUM-HD. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGCCATAAGGATGAGTTGAA 0.388000 23 28 0 0 0.000586117 0 0 ENTPD1 953 broad.mit.edu 37 10 97607239 97607239 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:97607239C>T ENST00000371203.5 + 6 1023 c.436C>T c.(436-438)Cat>Tat p.H146Y ENTPD1_ENST00000453258.2_Missense_Mutation_p.H291Y|ENTPD1_ENST00000371205.4_Missense_Mutation_p.H284Y|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371207.3_Missense_Mutation_p.H296Y|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000543964.1_Missense_Mutation_p.H176Y|ENTPD1_ENST00000539125.1_Missense_Mutation_p.H146Y NM_001164179.1|NM_001164182.1|NM_001776.5 NP_001157651.1|NP_001157654.1|NP_001767.3 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 284 cell adhesion integral to plasma membrane ATP binding cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1) 16 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) CCCATGCTTTCATCCTGGATA 0.418000 37 20 0 0 0.000509022 0 0 EMR3 84658 broad.mit.edu 37 19 14752279 14752279 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:14752279G>A ENST00000253673.5 - 10 1300 c.1200C>T c.(1198-1200)ttC>ttT p.F400F EMR3_ENST00000344373.4_Silent_p.F348F|EMR3_ENST00000599900.1_Silent_p.F185F|EMR3_ENST00000443157.2_Silent_p.F274F NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 400 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 GGTGGGCCAGGAAGAGGCAGA 0.577000 18 43 0 0 0.00121646 0 0 MB21D1 115004 broad.mit.edu 37 6 74155359 74155359 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:74155359G>A ENST00000370315.3 - 2 863 c.769C>T c.(769-771)Ccg>Tcg p.P257S MB21D1_ENST00000370318.1_Missense_Mutation_p.P257S NM_138441.2 NP_612450.2 Q8N884 M21D1_HUMAN Mab-21 domain containing 1 257 central_nervous_system(1)|large_intestine(4)|lung(1) 6 TTTTCTTTCGGATTTCTTTTA 0.313000 32 39 0 0 0.000339439 0 0 COL11A1 1301 broad.mit.edu 37 1 103343611 103343611 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:103343611G>A ENST00000358392.2 - 67 5738 c.5421C>T c.(5419-5421)ttC>ttT p.F1807F COL11A1_ENST00000353414.4_Silent_p.F1756F|COL11A1_ENST00000512756.1_Silent_p.F1679F|COL11A1_ENST00000370096.3_Silent_p.F1795F NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1795 collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.F1807F(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTTCAAATCCGAACTTCTGAT 0.348000 23 44 0 0 0.00106085 0 0 RLIM 51132 broad.mit.edu 37 X 73812727 73812727 + Silent SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:73812727T>A ENST00000332687.6 - 4 641 c.423A>T c.(421-423)atA>atT p.I141I RLIM_ENST00000349225.2_Silent_p.I141I NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 141 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GGTTAACATTTATCTCTAAAC 0.408000 67 112 0 0 0.000781405 0 0 UPF3B 65109 broad.mit.edu 37 X 118977163 118977163 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:118977163C>T ENST00000276201.2 - 5 640 c.571G>A c.(571-573)Gaa>Aaa p.E191K UPF3B_ENST00000345865.2_Missense_Mutation_p.E191K|UPF3B_ENST00000478840.1_5'UTR NM_080632.2 NP_542199.1 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B (yeast) 191 Necessary for interaction with UPF2.|Sufficient for association with EJC core. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1) 30 CCTATTAATTCTCTATTTTTT 0.388000 43 85 0 0 0.000437636 0 0 WWP2 11060 broad.mit.edu 37 16 69951744 69951744 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:69951744C>T ENST00000359154.2 + 10 1238 c.1137C>T c.(1135-1137)ctC>ctT p.L379L WWP2_ENST00000356003.2_Silent_p.L379L|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.L379L|WWP2_ENST00000542271.1_Silent_p.L263L NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 379 entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GGAATCAGCTCCAGGGGGCCA 0.617000 6 20 0 0 0.000157383 0 0 MDN1 23195 broad.mit.edu 37 6 90385895 90385895 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:90385895C>T ENST00000369393.3 - 77 12686 c.12571G>A c.(12571-12573)Gga>Aga p.G4191R MDN1_ENST00000428876.1_Missense_Mutation_p.G4191R Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4191 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTCTGGCATCCATCCCATGAA 0.448000 27 51 0 0 0.001512 0 0 CHST9 83539 broad.mit.edu 37 18 24496402 24496402 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr18:24496402C>T ENST00000284224.8 - 6 1430 c.1153G>A c.(1153-1155)Ggt>Agt p.G385S AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.G385S|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA NM_031422.5 NP_113610.2 Q7L1S5 CHST9_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 385 carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process extracellular region|Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity p.G300C(1)|p.G385C(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3) 28 all_lung(6;0.0145)|Ovarian(20;0.124) TTTGGAGCACCGATCATCTGT 0.398000 43 68 0 0 0.00170553 0 0 SELP 6403 broad.mit.edu 37 1 169580879 169580879 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:169580879C>T ENST00000263686.6 - 7 1035 c.998G>A c.(997-999)gGa>gAa p.G333E SELP_ENST00000367793.2_Missense_Mutation_p.G271E|SELP_ENST00000367788.2_Missense_Mutation_p.G271E|SELP_ENST00000367794.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367786.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367792.2_Intron NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 333 Sushi 3. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GTCCATGGTTCCTTCACTGGG 0.517000 25 64 0 0 0.00127121 0 0 LONRF1 91694 broad.mit.edu 37 8 12594427 12594427 + Nonsense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:12594427T>A ENST00000398246.3 - 5 1405 c.1336A>T c.(1336-1338)Aag>Tag p.K446* LONRF1_ENST00000533751.1_Nonsense_Mutation_p.K89* NM_152271.3 NP_689484.3 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 1 446 proteolysis ATP-dependent peptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 READ - Rectum adenocarcinoma(644;0.236) TTTTTCAGCTTATTTCTTCCA 0.308000 8 7 0 0 0.000157383 0 0 PID1 55022 broad.mit.edu 37 2 229890376 229890376 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:229890376G>A ENST00000392054.3 - 4 1058 c.719C>T c.(718-720)tCc>tTc p.S240F PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Missense_Mutation_p.S242F|PID1_ENST00000392055.3_Missense_Mutation_p.S209F|PID1_ENST00000409462.1_Missense_Mutation_p.S160F NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 242 PID. cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) CAATTCCTGGGAAACCTCTTC 0.512000 22 57 0 0 0.000375601 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113517931 113517931 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:113517931G>A ENST00000284601.3 - 4 3284 c.3216C>T c.(3214-3216)acC>acT p.T1072T NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 1072 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TTTTAGAGTTGGTATATTTTG 0.348000 78 64 0 0 0.000781405 0 0 SEMA4F 10505 broad.mit.edu 37 2 74902382 74902382 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:74902382G>A ENST00000357877.2 + 10 1392 c.1243G>A c.(1243-1245)Gac>Aac p.D415N SEMA4F_ENST00000473350.1_Intron|SEMA4F_ENST00000339773.5_Missense_Mutation_p.D260N NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 415 Sema. cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 CCCACTCATGGACAGGCCAGT 0.582000 OREG0014721 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 25 0 0 0.000958276 0 0 HIVEP3 59269 broad.mit.edu 37 1 42045916 42045916 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:42045916G>A ENST00000372584.1 - 3 5567 c.4553C>T c.(4552-4554)cCt>cTt p.P1518L HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1518L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1518L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1518L NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1518 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGACAATGCAGGGTGAGGGAG 0.567000 24 37 0 0 0.000375601 0 0 CACNA1G 8913 broad.mit.edu 37 17 48696108 48696108 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:48696108C>T ENST00000352832.5 + 31 5790 c.5418C>T c.(5416-5418)ttC>ttT p.F1806F CACNA1G_ENST00000359106.5_Silent_p.F1840F|CACNA1G_ENST00000510366.1_Silent_p.F1788F|CACNA1G_ENST00000512389.1_Silent_p.F1829F|CACNA1G_ENST00000360761.4_Silent_p.F1817F|CACNA1G_ENST00000429973.2_Silent_p.F1822F|CACNA1G_ENST00000505165.1_Silent_p.F1840F|CACNA1G_ENST00000503485.1_Silent_p.F1806F|CACNA1G_ENST00000358244.5_Silent_p.F1806F|CACNA1G_ENST00000514181.1_Silent_p.F1815F|CACNA1G_ENST00000515411.1_Silent_p.F1822F|CACNA1G_ENST00000502264.1_Silent_p.F1817F|CACNA1G_ENST00000442258.2_Silent_p.F1799F|CACNA1G_ENST00000507896.1_Silent_p.F1829F|CACNA1G_ENST00000513964.1_Silent_p.F1795F|CACNA1G_ENST00000510115.1_Silent_p.F1806F|CACNA1G_ENST00000513689.2_Silent_p.F1795F|CACNA1G_ENST00000514717.1_Silent_p.F1783F|CACNA1G_ENST00000515765.1_Silent_p.F1829F|CACNA1G_ENST00000354983.4_Silent_p.F1806F|CACNA1G_ENST00000515165.1_Silent_p.F1840F|CACNA1G_ENST00000507336.1_Silent_p.F1829F|CACNA1G_ENST00000507510.2_Silent_p.F1840F|CACNA1G_ENST00000507609.1_Silent_p.F1833F|CACNA1G_ENST00000514079.1_Silent_p.F1847F NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1840 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CGGCCCAGTTCGTGCTAGTCA 0.602000 16 30 0 0 0.000566183 0 0 OR1I1 126370 broad.mit.edu 37 19 15198637 15198637 + Missense_Mutation SNP C C G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:15198637C>G ENST00000209540.2 + 1 847 c.761C>G c.(760-762)aCc>aGc p.T254S NM_001004713.1 NP_001004713.1 O60431 OR1I1_HUMAN olfactory receptor, family 1, subfamily I, member 1 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2) 20 TCCTATGGGACCATCTTTGCT 0.542000 3 15 0 0 6.4e-05 0 0 RNF180 285671 broad.mit.edu 37 5 63496695 63496695 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:63496695C>T ENST00000389100.4 + 2 133 c.61C>T c.(61-63)Cgt>Tgt p.R21C RNF180_ENST00000296615.6_Missense_Mutation_p.R21C|RNF180_ENST00000381081.2_Missense_Mutation_p.R21C NM_001113561.1 NP_001107033.1 Q86T96 RN180_HUMAN ring finger protein 180 21 SILRC -> GETVFSL (in Ref. 2; CAD89939). integral to membrane|nuclear envelope zinc ion binding breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) AAGTATTCTTCGTTGTTGGAA 0.333000 20 43 0 0 0.00121646 0 0 HOXB1 3211 broad.mit.edu 37 17 46607022 46607022 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:46607022C>T ENST00000239174.6 - 2 885 c.793G>A c.(793-795)Gaa>Aaa p.E265K HOXB1_ENST00000577092.1_3'UTR NM_002144.3 NP_002135.2 P14653 HXB1_HUMAN homeobox B1 265 E -> G (in dbSNP:rs7226137). nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 ACCCGACCTTCCTCTCGCTCG 0.622000 36 62 0 0 0.00128727 0 0 SEMA4F 10505 broad.mit.edu 37 2 74902381 74902381 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:74902381G>A ENST00000357877.2 + 10 1391 c.1242G>A c.(1240-1242)atG>atA p.M414I SEMA4F_ENST00000473350.1_Intron|SEMA4F_ENST00000339773.5_Missense_Mutation_p.M259I NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 414 Sema. cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 ACCCACTCATGGACAGGCCAG 0.582000 OREG0014721 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 26 0 0 0.000958276 0 0 OR10P1 121130 broad.mit.edu 37 12 56031458 56031458 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:56031458C>T ENST00000309675.2 + 1 815 c.783C>T c.(781-783)atC>atT p.I261I NM_206899.1 NP_996782.1 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, member 1 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I261I(1) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 TCACCTACATCCGGCCGCAGG 0.582000 27 55 0 0 0.00178596 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303812 151303812 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:151303812G>A ENST00000370323.4 - 4 597 c.281C>T c.(280-282)cCc>cTc p.P94L RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.P94L NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 94 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) AACGACCGAGGGGGAGGAGCA 0.547000 70 177 0 0 0.000781405 0 0 ZNF292 23036 broad.mit.edu 37 6 87964629 87964629 + Silent SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:87964629T>C ENST00000369577.3 + 8 1325 c.1282T>C c.(1282-1284)Tta>Cta p.L428L ZNF292_ENST00000339907.4_Silent_p.L423L NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 428 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) ACCAAATTCTTTACGCTGTGA 0.383000 20 30 0 0 0.00152264 0 0 C17orf74 201243 broad.mit.edu 37 17 7330098 7330098 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:7330098C>T ENST00000333870.3 + 3 862 c.788C>T c.(787-789)tCc>tTc p.S263F C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA NM_175734.4 NP_783861.3 Q0P670 CQ074_HUMAN chromosome 17 open reading frame 74 263 integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) CGCCACGGTTCCCAATCCCGA 0.662000 15 16 0 0 0.000422831 0 0 MAP10 54627 broad.mit.edu 37 1 232942697 232942697 + Missense_Mutation SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:232942697A>G ENST00000418460.1 + 1 2055 c.1928A>G c.(1927-1929)aAt>aGt p.N643S NM_019090.2 NP_061963.2 microtubule-associated protein 10 GGCTTAACAAATACACTAAGA 0.343000 16 32 0 0 0.000566183 0 0 JADE3 9767 broad.mit.edu 37 X 46913781 46913781 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:46913781G>A ENST00000218343.4 + 9 1492 c.1194G>A c.(1192-1194)caG>caA p.Q398Q PHF16_ENST00000397189.1_Silent_p.Q398Q NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 398 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 TGCGGGCACAGAAGCTTCGGG 0.537000 17 31 0 0 0.000422831 0 0 NEU1 4758 broad.mit.edu 37 6 31829067 31829067 + Missense_Mutation SNP C C A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:31829067C>A ENST00000375631.4 - 3 642 c.513G>T c.(511-513)ttG>ttT p.L171F NM_000434.3 NP_000425.1 Q99519 NEUR1_HUMAN sialidase 1 (lysosomal sialidase) 171 cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane exo-alpha-sialidase activity|protein binding kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 10 Oseltamivir(DB00198)|Zanamivir(DB00558) TGCTCCATACCAACATGGTAG 0.537000 9 299 3.86212e-05 0.000216817 0.000673444 1 0 PCDHGB3 56102 broad.mit.edu 37 5 140750199 140750199 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:140750199G>A ENST00000576222.1 + 1 369 c.238G>A c.(238-240)Gaa>Aaa p.E80K PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGAGCCCCGAAAATGGGAA 0.502000 79 153 0 0 0.000781405 0 0 DIAPH3 81624 broad.mit.edu 37 13 60453373 60453373 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr13:60453373G>A ENST00000400324.4 - 21 2817 c.2597C>T c.(2596-2598)tCt>tTt p.S866F DIAPH3_ENST00000400319.1_Missense_Mutation_p.S796F|DIAPH3_ENST00000377908.2_Missense_Mutation_p.S855F|DIAPH3_ENST00000267215.4_Missense_Mutation_p.S866F|DIAPH3_ENST00000400320.1_Missense_Mutation_p.S820F|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Missense_Mutation_p.S866F NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 866 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) TTTACAGAGAGAGCTAAGGTT 0.353000 13 26 0 0 0.000219431 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64587690 64587690 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:64587690G>A ENST00000498707.1 - 26 4289 c.3947C>T c.(3946-3948)cCc>cTc p.P1316L ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P1288L NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1316 glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GGCGCTCCGGGGACGATAGTC 0.577000 96 65 0 0 0.000781405 0 0 DYNC2LI1 51626 broad.mit.edu 37 2 44016840 44016840 + Silent SNP C C A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:44016840C>A ENST00000398823.2 + 5 375 c.300C>A c.(298-300)ccC>ccA p.P100P DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000443170.3_5'UTR|DYNC2LI1_ENST00000260605.8_Silent_p.P100P|DYNC2LI1_ENST00000605786.1_Silent_p.P100P|DYNC2LI1_ENST00000406852.3_Silent_p.P100P Q8TCX1 DC2L1_HUMAN dynein, cytoplasmic 2, light intermediate chain 1 100 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1) 26 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TCAGCATACCCATCACAGGTG 0.423000 9 354 0.000978159 0.00545416 0.000978159 1 0 VPS72 6944 broad.mit.edu 37 1 151149261 151149261 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:151149261G>A ENST00000354473.4 - 6 1023 c.987C>T c.(985-987)atC>atT p.I329I VPS72_ENST00000496809.1_5'UTR NM_001271087.1|NM_005997.1 NP_001258016.1|NP_005988.1 Q15906 VPS72_HUMAN vacuolar protein sorting 72 homolog (S. cerevisiae) 318 chromatin modification|negative regulation of transcription from RNA polymerase II promoter nucleus|protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CCTCACGAATGATCTTGAAGG 0.602000 32 60 0 0 0.000491102 0 0 SUGP1 57794 broad.mit.edu 37 19 19427238 19427238 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:19427238G>A ENST00000247001.5 - 2 546 c.199C>T c.(199-201)Cct>Tct p.P67S SUGP1_ENST00000334782.5_Missense_Mutation_p.P67S|SUGP1_ENST00000585763.1_5'UTR NM_172231.3 NP_757386.2 Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 67 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 TACTCGCCAGGATGTGGGGGC 0.567000 14 23 0 0 0.000422831 0 0 AKAP4 8852 broad.mit.edu 37 X 49958744 49958744 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:49958744G>A ENST00000376056.2 - 5 743 c.593C>T c.(592-594)tCc>tTc p.S198F AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.S207F|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.S198F Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 207 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) TCCATCAGGGGAAATGACTGC 0.443000 89 140 0 0 0.000781405 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50416522 50416522 + Splice_Site SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:50416522C>T ENST00000435965.1 - 12 1434 c.e12+1 CACNA2D2_ENST00000266039.3_Splice_Site|CACNA2D2_ENST00000360963.3_Splice_Site|CACNA2D2_ENST00000424201.2_Splice_Site|CACNA2D2_ENST00000395083.1_Splice_Site|CACNA2D2_ENST00000479441.1_Splice_Site|CACNA2D2_ENST00000429770.1_Splice_Site|CACNA2D2_ENST00000423994.2_Splice_Site Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) TTGAGCCTCACCGTCCGGTTT 0.592000 13 16 0 0 0.000219431 0 0 TACC3 10460 broad.mit.edu 37 4 1729447 1729447 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:1729447C>T ENST00000313288.4 + 4 424 c.318C>T c.(316-318)atC>atT p.I106I NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 106 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) AACAGCTCATCAAGGAAGTGG 0.488000 128 320 0 0 0.000781405 0 0 NMBR 4829 broad.mit.edu 37 6 142409714 142409714 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:142409714C>T ENST00000258042.1 - 1 222 c.82G>A c.(82-84)Gat>Aat p.D28N RP11-137J7.2_ENST00000454401.1_RNA NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 28 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) GGCAGGAAATCCCTTTCCCAC 0.607000 13 23 0 0 0.000219431 0 0 ZNF555 148254 broad.mit.edu 37 19 2853171 2853171 + Missense_Mutation SNP T T G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:2853171T>G ENST00000334241.4 + 4 1246 c.1108T>G c.(1108-1110)Tgc>Ggc p.C370G AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.C369G NM_001172775.1|NM_152791.4 NP_001166246.1|NP_690004.4 Q8NEP9 ZN555_HUMAN zinc finger protein 555 370 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4) 23 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCCTACGAATGCAAACAGTG 0.448000 6 9 0 0 0.00116845 0 0 TMEM37 140738 broad.mit.edu 37 2 120194596 120194596 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:120194596C>T ENST00000306406.4 + 2 188 c.153C>T c.(151-153)ctC>ctT p.L51L TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Silent_p.L63L NM_183240.2 NP_899063.2 Q8WXS4 CCGL_HUMAN transmembrane protein 37 51 integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 GGCACTGGCTCCTGGCTGAGG 0.622000 40 64 0 0 0.00170553 0 0 VAV1 7409 broad.mit.edu 37 19 6822341 6822341 + Splice_Site SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:6822341G>A ENST00000304076.2 + 5 652 c.e5+1 VAV1_ENST00000539284.1_Splice_Site|VAV1_ENST00000596764.1_Splice_Site|VAV1_ENST00000599806.1_Splice_Site|VAV1_ENST00000602142.1_Splice_Site NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GTCCATGCCGGTGCGTGACGT 0.677000 4 6 0 0 0.00024832 0 0 CENPF 1063 broad.mit.edu 37 1 214819674 214819674 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:214819674C>T ENST00000366955.3 + 13 6929 c.6761C>T c.(6760-6762)tCt>tTt p.S2254F NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2350 2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AAAGAAGAATCTAAAACTGCA 0.398000 35 127 0 0 0.00111076 0 0 NEB 4703 broad.mit.edu 37 2 152492815 152492815 + Missense_Mutation SNP T T G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:152492815T>G ENST00000397345.3 - 64 9230 c.9028A>C c.(9028-9030)Aag>Cag p.K3010Q NEB_ENST00000172853.10_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.K3010Q|NEB_ENST00000409198.1_Intron|NEB_ENST00000604864.1_Missense_Mutation_p.K3010Q|NEB_ENST00000427231.2_Missense_Mutation_p.K3010Q NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 3010 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TAGCCTTTCTTCTTTGCTTCT 0.438000 9 16 0 0 0.000274275 0 0 CFHR1 3078 broad.mit.edu 37 1 196799639 196799639 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:196799639G>A ENST00000320493.5 + 5 705 c.617G>A c.(616-618)gGa>gAa p.G206E CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Missense_Mutation_p.G147E NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 206 Sushi 4. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 GATTCTACGGGAAAATGTGGG 0.383000 46 48 0 0 0.000781405 0 0 XIRP2 129446 broad.mit.edu 37 2 167759998 167759998 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:167759998C>T ENST00000409195.1 + 2 95 c.6C>T c.(4-6)ttC>ttT p.F2F XIRP2_ENST00000409728.1_Silent_p.F2F|XIRP2_ENST00000409043.1_Silent_p.F2F|XIRP2_ENST00000295237.9_Silent_p.F2F|XIRP2_ENST00000409756.2_Silent_p.F2F|XIRP2_ENST00000420519.1_Silent_p.F2F NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 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 CATCCATGTTCCCAATGCAGA 0.448000 20 35 0 0 0.00047179 0 0 DEFB118 117285 broad.mit.edu 37 20 29960918 29960918 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:29960918C>T ENST00000253381.2 + 2 350 c.317C>T c.(316-318)tCt>tTt p.S106F NM_054112.2 NP_473453.1 Q96PH6 DB118_HUMAN defensin, beta 118 106 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1) 14 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) GTTGAAGAGTCTGAGGCGGGA 0.438000 16 34 0 0 0.00074312 0 0 FAM65A 79567 broad.mit.edu 37 16 67576106 67576106 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:67576106C>T ENST00000540839.3 + 14 1697 c.1477C>T c.(1477-1479)Cta>Tta p.L493L CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000042381.4_Silent_p.L473L|FAM65A_ENST00000422602.2_Silent_p.L493L|FAM65A_ENST00000379312.3_Silent_p.L477L|FAM65A_ENST00000428437.2_Silent_p.L487L Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 477 Pro-rich. cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) CCCAGAAAGCCTAGCCTGGGG 0.622000 20 37 0 0 0.000958276 0 0 LILRB1 10859 broad.mit.edu 37 19 55143065 55143065 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:55143065G>A ENST00000396331.1 + 5 542 c.185G>A c.(184-186)aGa>aAa p.R62K LILRB1_ENST00000448689.1_Missense_Mutation_p.R62K|LILRB1_ENST00000396332.4_Missense_Mutation_p.R62K|LILRB1_ENST00000396327.3_Missense_Mutation_p.R62K|LILRB1_ENST00000396315.1_Missense_Mutation_p.R62K|LILRB1_ENST00000418536.2_Missense_Mutation_p.R62K|LILRB1_ENST00000396317.1_Missense_Mutation_p.R62K|LILRB1_ENST00000324602.7_Missense_Mutation_p.R62K|LILRB1_ENST00000427581.2_Missense_Mutation_p.R98K|LILRB1_ENST00000396321.2_Missense_Mutation_p.R62K|LILRB1_ENST00000434867.2_Missense_Mutation_p.R62K NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 62 Ig-like C2-type 1. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CGTCTATATAGAGAAAAGAAA 0.582000 HNSCC(37;0.09) 36 51 0 0 0.000692331 0 0 SACM1L 22908 broad.mit.edu 37 3 45748372 45748372 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:45748372G>A ENST00000389061.5 + 4 510 c.306G>A c.(304-306)aaG>aaA p.K102K SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000541314.1_Intron|SACM1L_ENST00000464524.1_3'UTR NM_014016.3 NP_054735.3 Q9NTJ5 SAC1_HUMAN SAC1 suppressor of actin mutations 1-like (yeast) 102 Golgi apparatus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) CTTATAAGAAGACAATGTTGC 0.378000 27 24 0 0 0.000720815 0 0 CHRNA2 1135 broad.mit.edu 37 8 27327415 27327415 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:27327415C>T ENST00000407991.1 - 3 765 c.157G>A c.(157-159)Ggc>Agc p.G53S CHRNA2_ENST00000520933.2_Missense_Mutation_p.G53S|CHRNA2_ENST00000240132.2_Missense_Mutation_p.G53S NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 53 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) GTATGCGAGCCTCCCTGCGGC 0.627000 22 36 0 0 0.000375601 0 0 BTBD1 53339 broad.mit.edu 37 15 83725214 83725214 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:83725214G>A ENST00000261721.4 - 2 687 c.485C>T c.(484-486)gCc>gTc p.A162V RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.A162V NM_001011885.1|NM_025238.3 NP_001011885.1|NP_079514.1 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 162 cytoplasmic mRNA processing body|protein complex protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 10 all cancers(203;0.000186) TGCTTCCAAGGCTGGGACTGC 0.378000 23 30 0 0 0.000295444 0 0 IKBKB 3551 broad.mit.edu 37 8 42175288 42175288 + Splice_Site SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:42175288C>T ENST00000520810.1 + 12 1425 c.1240_splice c.e12+1 p.I413_splice IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Splice_Site_p.I411_splice|IKBKB_ENST00000416505.2_Splice_Site_p.I354_splice|IKBKB_ENST00000379708.3_Splice_Site_p.I190_splice NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 413 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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 CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) TCAGCTGTATCCGTAAGAATT 0.428000 19 43 0 0 0.000958276 0 0 ADAM2 2515 broad.mit.edu 37 8 39604026 39604026 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:39604026C>T ENST00000265708.4 - 19 2242 c.2139G>A c.(2137-2139)agG>agA p.R713R ADAM2_ENST00000347580.4_Silent_p.R694R|ADAM2_ENST00000379853.2_Silent_p.R557R|ADAM2_ENST00000521880.1_Silent_p.R650R NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 713 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TCCATTTTTTCCTTTGGAAAT 0.284000 51 76 0 0 0.000781405 0 0 CREB3L4 148327 broad.mit.edu 37 1 153946380 153946380 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:153946380G>A ENST00000368607.3 + 10 1293 c.1027G>A c.(1027-1029)Gta>Ata p.V343I CREB3L4_ENST00000405694.3_Missense_Mutation_p.V196I|CREB3L4_ENST00000368600.3_Missense_Mutation_p.V323I|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368603.1_Missense_Mutation_p.V343I|CREB3L4_ENST00000271889.4_Missense_Mutation_p.V343I NM_001255978.1|NM_001255980.1|NM_130898.3 NP_001242907.1|NP_001242909.1|NP_570968.1 Q8TEY5 CR3L4_HUMAN cAMP responsive element binding protein 3-like 4 343 response to unfolded protein endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3) 13 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CCACAAGGACGTAACAGAAAA 0.532000 11 13 0 0 0.00136819 0 0 DDX24 57062 broad.mit.edu 37 14 94526450 94526450 + Missense_Mutation SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:94526450A>G ENST00000330836.5 - 5 2038 c.1907T>C c.(1906-1908)cTg>cCg p.L636P DDX24_ENST00000544005.1_Missense_Mutation_p.L386P|DDX24_ENST00000555054.1_Missense_Mutation_p.L593P NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 636 Helicase C-terminal. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) TTACTCTTCCAGACGGGCAAA 0.517000 29 44 0 0 0.000339439 0 0 TMEM104 54868 broad.mit.edu 37 17 72832537 72832537 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:72832537C>T ENST00000335464.5 + 10 1364 c.1202C>T c.(1201-1203)cCc>cTc p.P401L TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.P401L NM_017728.3 NP_060198.3 Q8NE00 TM104_HUMAN transmembrane protein 104 401 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) GTCGTGTTTCCCACCATCACC 0.657000 16 26 0 0 0.000566183 0 0 HR 55806 broad.mit.edu 37 8 21986204 21986204 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:21986204G>A ENST00000381418.4 - 2 1960 c.480C>T c.(478-480)ccC>ccT p.P160P HR_ENST00000312841.8_Silent_p.P160P NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 160 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GCAAGCAGGTGGGCACCCAGA 0.652000 4 7 0 0 0.000602214 0 0 ALK 238 broad.mit.edu 37 2 29917784 29917784 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:29917784G>A ENST00000389048.3 - 3 1790 c.884C>T c.(883-885)tCc>tTc p.S295F ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 295 MAM 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GGCCTCCTCGGAGGGGATGCG 0.617000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 30 68 0 0 0.00058488 0 0 EIF2B1 1967 broad.mit.edu 37 12 124114980 124114980 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:124114980G>A ENST00000424014.2 - 3 424 c.216C>T c.(214-216)ttC>ttT p.F72F EIF2B1_ENST00000543940.1_5'UTR|EIF2B1_ENST00000537073.1_Silent_p.F72F|EIF2B1_ENST00000539951.1_Silent_p.F59F NM_001414.3 NP_001405.1 Q14232 EI2BA_HUMAN eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa 72 cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane protein binding|translation initiation factor activity breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489) TGAAGCGGAGGAAGAGCTCCC 0.552000 15 21 0 0 0.000308642 0 0 AMDHD1 144193 broad.mit.edu 37 12 96350710 96350710 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:96350710C>T ENST00000266736.2 + 4 663 c.557C>T c.(556-558)gCt>gTt p.A186V NM_152435.2 NP_689648.2 Q96NU7 HUTI_HUMAN amidohydrolase domain containing 1 186 histidine catabolic process to glutamate and formamide cytosol imidazolonepropionase activity|metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1) 22 GGCATCTCGGCTACCTACTGC 0.612000 37 83 0 0 0.000589545 0 0 OLFML2B 25903 broad.mit.edu 37 1 161953983 161953983 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:161953983G>A ENST00000294794.3 - 8 2158 c.1735C>T c.(1735-1737)Cgc>Tgc p.R579C OLFML2B_ENST00000367940.2_Missense_Mutation_p.R580C|OLFML2B_ENST00000367938.1_Missense_Mutation_p.R62C NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 579 Olfactomedin-like. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GTGAAGGCGCGATTGTAGTAG 0.597000 16 37 0 0 0.000422831 0 0 AADACL2 344752 broad.mit.edu 37 3 151463442 151463442 + Missense_Mutation SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:151463442A>G ENST00000356517.3 + 4 686 c.577A>G c.(577-579)Aat>Gat p.N193D NM_207365.3 NP_997248.2 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 193 extracellular region|integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2) 24 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) TTCTGGGGGCAATTTAGCAAC 0.383000 25 44 0 0 0.000720815 0 0 FOXN1 8456 broad.mit.edu 37 17 26861983 26861983 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:26861983C>T ENST00000226247.2 + 7 1423 c.1394C>T c.(1393-1395)cCt>cTt p.P465L FOXN1_ENST00000579795.1_Missense_Mutation_p.P465L NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 465 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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 endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) CTGGCCCCTCCTGGACCCCCG 0.667000 5 13 0 0 0.000602214 0 0 IGSF1 3547 broad.mit.edu 37 X 130419413 130419413 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:130419413A>T ENST00000370904.1 - 11 1290 c.380T>A c.(379-381)aTt>aAt p.I127N IGSF1_ENST00000370910.1_Missense_Mutation_p.I127N|IGSF1_ENST00000370900.1_Missense_Mutation_p.I136N|IGSF1_ENST00000361420.3_Missense_Mutation_p.I136N|IGSF1_ENST00000370903.3_Missense_Mutation_p.I136N|IGSF1_ENST00000370901.4_Missense_Mutation_p.I136N Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 136 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 CTCAGCCTGAATCCAGAAGAT 0.498000 33 52 0 0 0.000491102 0 0 RBL1 5933 broad.mit.edu 37 20 35668583 35668583 + Nonsense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:35668583G>A ENST00000373664.3 - 14 1942 c.1876C>T c.(1876-1878)Cga>Tga p.R626* RBL1_ENST00000344359.3_Nonsense_Mutation_p.R626* NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 626 Pocket; binds T and E1A.|Spacer. cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) CTGTCAGTTCGAACTTCCTTG 0.413000 39 65 0 0 0.000509022 0 0 GPRASP1 9737 broad.mit.edu 37 X 101909676 101909676 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:101909676C>T ENST00000537097.1 + 6 1648 c.835C>T c.(835-837)Ccc>Tcc p.P279S GPRASP1_ENST00000415986.1_Missense_Mutation_p.P279S|GPRASP1_ENST00000444152.1_Missense_Mutation_p.P279S|GPRASP1_ENST00000361600.5_Missense_Mutation_p.P279S|RP4-769N13.7_ENST00000602441.1_RNA NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 279 cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CAGGGAAGATCCCAATAGCAG 0.473000 57 86 0 0 0.000781405 0 0 KPNB1 3837 broad.mit.edu 37 17 45750523 45750523 + Nonsense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:45750523C>T ENST00000290158.4 + 13 2094 c.1687C>T c.(1687-1689)Cag>Tag p.Q563* KPNB1_ENST00000535458.2_Nonsense_Mutation_p.Q418*|KPNB1_ENST00000540627.1_Nonsense_Mutation_p.Q418*|KPNB1_ENST00000537679.1_Nonsense_Mutation_p.Q347* NM_001276453.1|NM_002265.4 NP_001263382.1|NP_002256.2 Q14974 IMB1_HUMAN karyopherin (importin) beta 1 563 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding breast(1)|ovary(1)|pancreas(1)|skin(1) 4 ACAGGTTCTTCAGATGGAGGT 0.443000 38 55 0 0 0.00148497 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187702078 187702078 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:187702078G>A ENST00000295131.2 - 5 737 c.698C>T c.(697-699)cCc>cTc p.P233L NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 233 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) GTTATTACAGGGAATCCCAAG 0.353000 19 43 0 0 0.00121646 0 0 RFPL2 10739 broad.mit.edu 37 22 32589013 32589013 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr22:32589013C>T ENST00000400236.3 - 4 1367 c.162G>A c.(160-162)atG>atA p.M54I RFPL2_ENST00000400237.1_Missense_Mutation_p.M144I|RFPL2_ENST00000248980.4_Missense_Mutation_p.M83I|RFPL2_ENST00000248983.4_Missense_Mutation_p.M54I|RFPL2_ENST00000489846.1_5'UTR NM_001098527.2 NP_001091997.2 O75678 RFPL2_HUMAN ret finger protein-like 2 144 zinc ion binding endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 21 TCCGAGAGACCATGGAAGAGC 0.527000 16 50 0 0 0.000958276 0 0 CDH23 64072 broad.mit.edu 37 10 73462447 73462447 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:73462447A>T ENST00000224721.6 + 23 2749 c.2744A>T c.(2743-2745)tAc>tTc p.Y915F CDH23_ENST00000299366.7_Missense_Mutation_p.Y955F NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 910 Cadherin 9. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GTCTCCATCTACCAAGTGAGT 0.562000 24 11 0 0 0.000586117 0 0 CLSPN 63967 broad.mit.edu 37 1 36225975 36225975 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:36225975G>A ENST00000251195.5 - 8 1643 c.1547C>T c.(1546-1548)tCc>tTc p.S516F CLSPN_ENST00000318121.3_Missense_Mutation_p.S516F|CLSPN_ENST00000520551.1_Missense_Mutation_p.S516F|CLSPN_ENST00000373220.3_Missense_Mutation_p.S516F Q9HAW4 CLSPN_HUMAN claspin 516 activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TATCACAAAGGAATCTTCATC 0.438000 13 29 0 0 0.000422831 0 0 XAB2 56949 broad.mit.edu 37 19 7692252 7692252 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:7692252G>A ENST00000358368.4 - 4 436 c.399C>T c.(397-399)ttC>ttT p.F133F XAB2_ENST00000534844.1_Silent_p.F130F NM_020196.2 NP_064581.2 Q9HCS7 SYF1_HUMAN XPA binding protein 2 133 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 GGGCACGGTCGAAGGTGCGGC 0.647000 Direct reversal of damage;Nucleotide excision repair (NER) 10 9 0 0 0.000673444 0 0 ZNF767 79970 broad.mit.edu 37 7 149317098 149317098 + RNA SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:149317098G>A ENST00000463567.1 - 0 516 NR_027788.1 zinc finger family member 767 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1) 5 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00434) TTCAATCTGGGAGAGGACCTC 0.557000 14 30 0 0 0.000566183 0 0 FOXI1 2299 broad.mit.edu 37 5 169535126 169535126 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:169535126G>A ENST00000306268.6 + 2 709 c.648G>A c.(646-648)agG>agA p.R216R FOXI1_ENST00000449804.2_Intron Q12951 FOXI1_HUMAN forkhead box I1 216 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity 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|transcription regulatory region DNA binding p.R216S(1) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCAGGAAAAGGAAGAGAAAAT 0.498000 Pendred syndrome 26 44 0 0 0.000878237 0 0 RBM44 375316 broad.mit.edu 37 2 238726978 238726978 + Silent SNP T T G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:238726978T>G ENST00000316997.4 + 3 1551 c.1419T>G c.(1417-1419)acT>acG p.T473T RBM44_ENST00000409864.1_Silent_p.T473T|RBM44_ENST00000444524.2_Intron NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 472 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) ACGTTAGCACTGATTTTAGGG 0.378000 25 50 0 0 0.000720815 0 0 SPRR3 6707 broad.mit.edu 37 1 152975642 152975642 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:152975642G>A ENST00000331860.3 + 3 296 c.146G>A c.(145-147)gGa>gAa p.G49E SPRR3_ENST00000295367.4_Missense_Mutation_p.G49E|SPRR3_ENST00000542696.1_Missense_Mutation_p.G49E NM_005416.2 NP_005407.1 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 49 14 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCACAACCTGGAAACACAAAG 0.547000 10 12 0 0 0.000673444 0 0 TAS2R8 50836 broad.mit.edu 37 12 10959048 10959048 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:10959048G>A ENST00000240615.2 - 1 844 c.532C>T c.(532-534)Cca>Tca p.P178S NM_023918.1 NP_076407.1 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 178 sensory perception of taste integral to membrane taste receptor activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TCAAAGTATGGTATTTTACTC 0.338000 20 32 0 0 0.00152264 0 0 IGHJ6 28475 broad.mit.edu 37 14 106329413 106329413 + RNA SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:106329413G>A ENST00000390560.2 - 0 55 CTTACCTGAGGAGACGGTGAC 0.542000 8 19 0 0 0.00136819 0 0 ZNF254 9534 broad.mit.edu 37 19 24310482 24310482 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:24310482C>T ENST00000357002.4 + 4 1795 c.1680C>T c.(1678-1680)atC>atT p.I560I ZNF254_ENST00000342944.6_Silent_p.I475I NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 560 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) AGTCTTCAATCCTTACTAACC 0.343000 10 20 0 0 0.000673444 0 0 COL4A3 1285 broad.mit.edu 37 2 228155586 228155586 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:228155586G>A ENST00000396578.3 + 37 3356 c.3194G>A c.(3193-3195)gGa>gAa p.G1065E AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1065 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) ACAAGGCCAGGACCACCGGGA 0.498000 7 11 0 0 8.12818e-05 0 0 CLK2 1196 broad.mit.edu 37 1 155236605 155236605 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:155236605G>A ENST00000368361.4 - 7 1068 c.753C>T c.(751-753)ttC>ttT p.F251F CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Silent_p.F249F|CLK2_ENST00000536801.1_Silent_p.F251F|CLK2_ENST00000361168.5_Silent_p.F250F P49760 CLK2_HUMAN CDC-like kinase 2 251 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TGAGGAAATCGAAGGTGCTAA 0.547000 Other conserved DNA damage response genes 10 22 0 0 0.000673444 0 0 MORC4 79710 broad.mit.edu 37 X 106186394 106186394 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:106186394C>T ENST00000355610.4 - 15 2001 c.1727G>A c.(1726-1728)cGa>cAa p.R576Q MORC4_ENST00000535534.1_Missense_Mutation_p.R324Q|MORC4_ENST00000255495.7_Missense_Mutation_p.R576Q NM_001085354.2|NM_024657.4 NP_001078823.1|NP_078933.3 Q8TE76 MORC4_HUMAN MORC family CW-type zinc finger 4 576 ATP binding|zinc ion binding endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 GAGCCTTCTTCGTTTCTCCAC 0.438000 46 82 0 0 0.000781405 0 0 CASC1 55259 broad.mit.edu 37 12 25267737 25267737 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:25267737G>A ENST00000354189.5 - 13 1673 c.1638C>T c.(1636-1638)ttC>ttT p.F546F CASC1_ENST00000395990.2_Silent_p.F442F|CASC1_ENST00000537577.1_Silent_p.F370F|CASC1_ENST00000545133.1_Silent_p.F423F|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395987.3_Silent_p.F488F|CASC1_ENST00000320267.9_Silent_p.F482F NM_001082972.1 NP_001076441.1 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 482 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) TGTCCAGGCTGAATGTTACAA 0.383000 21 46 0 0 0.000295444 0 0 ZNF224 7767 broad.mit.edu 37 19 44610560 44610560 + Missense_Mutation SNP C C A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:44610560C>A ENST00000336976.6 + 6 501 c.247C>A c.(247-249)Caa>Aaa p.Q83K AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 83 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) AGACAAGATCCAAACTGAGAT 0.408000 7 22 1.06961e-07 6.04132e-07 0.000157383 1 0 DNAH5 1767 broad.mit.edu 37 5 13891132 13891132 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:13891132G>A ENST00000265104.4 - 17 2634 c.2530C>T c.(2530-2532)Ccc>Tcc p.P844S CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 844 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCCTCCTGGGGAAGCTGACAA 0.423000 Kartagener syndrome 72 106 0 0 0.000781405 0 0 TMEM104 54868 broad.mit.edu 37 17 72832536 72832536 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:72832536C>T ENST00000335464.5 + 10 1363 c.1201C>T c.(1201-1203)Ccc>Tcc p.P401S TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.P401S NM_017728.3 NP_060198.3 Q8NE00 TM104_HUMAN transmembrane protein 104 401 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) CGTCGTGTTTCCCACCATCAC 0.657000 17 26 0 0 0.000958276 0 0 RPGR 6103 broad.mit.edu 37 X 38128894 38128894 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:38128894G>A ENST00000339363.3 - 18 3215 c.3048C>T c.(3046-3048)tcC>tcT p.S1016S RPGR_ENST00000318842.7_Silent_p.S811S|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000309513.3_Silent_p.S749S Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 1016 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 GTATTGTACAGGATTTTGATC 0.294000 31 73 0 0 0.000692331 0 0 MCCD1 401250 broad.mit.edu 37 6 31496962 31496962 + Splice_Site SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:31496962G>A ENST00000376191.2 + 1 469 c.171_splice c.e1+1 p.R57_splice NM_001011700.2 NP_001011700.2 P59942 MCCD1_HUMAN mitochondrial coiled-coil domain 1 57 mitochondrion skin(1) 1 CCCCTCCCAGGGTAAGTGGCA 0.567000 11 29 0 0 0.000978159 0 0 MCTP2 55784 broad.mit.edu 37 15 94986178 94986178 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:94986178G>A ENST00000357742.4 + 18 2239 c.2239G>A c.(2239-2241)Gaa>Aaa p.E747K MCTP2_ENST00000451018.3_Intron NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 747 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) CGAGGAGGATGAAGATGACAA 0.398000 18 50 0 0 0.000229342 0 0 C5orf54 63920 broad.mit.edu 37 5 159822450 159822450 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:159822450G>A ENST00000408953.3 - 2 555 c.48C>T c.(46-48)ttC>ttT p.F16F C5orf54_ENST00000523213.1_Silent_p.F16F NM_022090.3 NP_071373.2 Q8IZ13 CE054_HUMAN chromosome 5 open reading frame 54 16 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 12 ttgtacaggtgaaccagtagc 0.433000 29 79 0 0 0.001512 0 0 DSCAML1 57453 broad.mit.edu 37 11 117651308 117651308 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:117651308G>A ENST00000321322.6 - 2 445 c.444C>T c.(442-444)tcC>tcT p.S148S DSCAML1_ENST00000527706.1_Intron NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 88 Ig-like C2-type 2. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGGCGGAGGGGGAGAAGGGGT 0.622000 54 51 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9045944 9045944 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:9045944G>A ENST00000397910.4 - 5 35890 c.35687C>T c.(35686-35688)tCc>tTc p.S11896F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11898 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GACAGCAGGGGAAACAGTCAG 0.488000 34 69 0 0 0.00058488 0 0 CDK19 23097 broad.mit.edu 37 6 110988704 110988704 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:110988704G>A ENST00000368911.3 - 4 568 c.389C>T c.(388-390)tCc>tTc p.S130F CDK19_ENST00000323817.3_Missense_Mutation_p.S70F NM_015076.3 NP_055891.1 Q9BWU1 CDK19_HUMAN cyclin-dependent kinase 19 130 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1) 22 GTAAAGTAAGGATTTAACCAT 0.308000 33 43 0 0 0.000953801 0 0 PKD1L1 168507 broad.mit.edu 37 7 47882569 47882569 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:47882569C>T ENST00000289672.2 - 34 5486 c.5436G>A c.(5434-5436)ttG>ttA p.L1812L NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1812 PLAT. 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 CCTTTGAGGTCAACCTGGCCG 0.517000 20 59 0 0 0.000229342 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79747353 79747353 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:79747353C>T ENST00000338008.5 + 10 3612 c.3432C>T c.(3430-3432)ctC>ctT p.L1144L ZFYVE16_ENST00000510158.1_Silent_p.L1144L|ZFYVE16_ENST00000505560.1_Silent_p.L1144L NM_014733.3 NP_055548.3 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 1144 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) AGAGTTTTCTCAGTAGCAAGG 0.303000 24 35 0 0 0.000720815 0 0 TTN 7273 broad.mit.edu 37 2 179396101 179396101 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:179396101C>T ENST00000589042.1 - 358 105465 c.105241G>A c.(105241-105243)Gaa>Aaa p.E35081K TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E26016K|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32513K|TTN_ENST00000591111.1_Missense_Mutation_p.E33440K|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E26208K|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E26141K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33440 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) GATTTCACTTCCCTGACAGAA 0.438000 43 61 0 0 0.000781405 0 0 ANK3 288 broad.mit.edu 37 10 61832232 61832232 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:61832232C>T ENST00000280772.1 - 37 8598 c.8407G>A c.(8407-8409)Gat>Aat p.D2803N ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2803 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GAGCCAGAATCATTTACAACA 0.388000 25 21 0 0 0.000586117 0 0 CACNA1C 775 broad.mit.edu 37 12 2706657 2706657 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:2706657C>T ENST00000480911.1 + 21 2873 c.2848C>T c.(2848-2850)Ctt>Ttt p.L950F CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399606.1_Missense_Mutation_p.L970F|CACNA1C_ENST00000347598.4_Missense_Mutation_p.L970F|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399601.1_Missense_Mutation_p.L950F|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000327702.7_Missense_Mutation_p.L950F|CACNA1C_ENST00000399641.1_Missense_Mutation_p.L950F|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399591.1_Missense_Mutation_p.L950F|CACNA1C_ENST00000399629.1_Missense_Mutation_p.L950F|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399644.1_Missense_Mutation_p.L950F|CACNA1C_ENST00000399637.1_Missense_Mutation_p.L950F|CACNA1C_ENST00000399649.1_Intron Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 970 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) AGAAATTATCCTTAAGGTAAT 0.403000 12 18 0 0 0.000219431 0 0 CD6 923 broad.mit.edu 37 11 60785429 60785429 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:60785429C>T ENST00000313421.7 + 11 1967 c.1781C>T c.(1780-1782)tCc>tTc p.S594F CD6_ENST00000352009.5_Missense_Mutation_p.S562F|CD6_ENST00000346437.4_Missense_Mutation_p.S521F|CD6_ENST00000452451.2_Missense_Mutation_p.S553F|CD6_ENST00000344028.5_Missense_Mutation_p.S562F NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 594 cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 GAGAGGAGTTCCTTCCTGGAG 0.577000 20 13 0 0 0.000229342 0 0 CAMTA1 23261 broad.mit.edu 37 1 7724103 7724103 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:7724103G>A ENST00000303635.7 + 9 1703 c.1496G>A c.(1495-1497)gGg>gAg p.G499E CAMTA1_ENST00000439411.2_Missense_Mutation_p.G499E NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 499 Poly-Gly. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CAGACGTACGGGGGTGGAGGC 0.592000 T WWTR1 epitheliod hemangioendothelioma 25 52 0 0 0.00178596 0 0 APOB 338 broad.mit.edu 37 2 21231221 21231221 + Missense_Mutation SNP C C A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:21231221C>A ENST00000233242.1 - 26 8646 c.8519G>T c.(8518-8520)gGg>gTg p.G2840V NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2840 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CATTTCACTCCCATGCTCCGT 0.418000 10 580 0.000442599 0.00247909 0.000442599 1 0 TRPM7 54822 broad.mit.edu 37 15 50897179 50897179 + Missense_Mutation SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:50897179A>G ENST00000313478.7 - 21 3153 c.2872T>C c.(2872-2874)Ttt>Ctt p.F958L TRPM7_ENST00000560955.1_Missense_Mutation_p.F958L NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 958 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) CCAGCCACAAAAACATGATTA 0.328000 27 56 0 0 0.000878237 0 0 KRT15 3866 broad.mit.edu 37 17 39672221 39672221 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:39672221C>T ENST00000254043.3 - 5 4527 c.942G>A c.(940-942)atG>atA p.M314I KRT15_ENST00000393976.2_Missense_Mutation_p.M314I|KRT15_ENST00000393981.3_Missense_Mutation_p.M149I|KRT15_ENST00000393974.3_Missense_Mutation_p.M149I NM_002275.3 NP_002266.2 P19012 K1C15_HUMAN keratin 15 314 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) TGGTCTGGATCATTTCTGTGT 0.592000 46 110 0 0 0.000781405 0 0 CLEC16A 23274 broad.mit.edu 37 16 11219974 11219974 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:11219974C>T ENST00000409790.1 + 22 2842 c.2612C>T c.(2611-2613)tCc>tTc p.S871F CLEC16A_ENST00000381822.2_5'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.S853F NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 871 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GTGCAGCGCTCCGTGTTTGCA 0.652000 13 25 0 0 0.000151284 0 0 SEPT6 23157 broad.mit.edu 37 X 118763465 118763465 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:118763465C>T ENST00000394610.1 - 9 1360 c.1096G>A c.(1096-1098)Gag>Aag p.E366K SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000354416.3_Missense_Mutation_p.E366K|SEPT6_ENST00000394617.2_Missense_Mutation_p.E396K|SEPT6_ENST00000489216.1_Missense_Mutation_p.E366K|SEPT6_ENST00000360156.7_Missense_Mutation_p.E366K|SEPT6_ENST00000354228.4_Missense_Mutation_p.E366K|SEPT6_ENST00000394616.4_Missense_Mutation_p.E308K|SEPT6_ENST00000343984.5_Missense_Mutation_p.E366K NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 366 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 TCAAACTTCTCGTGCAGCTGG 0.537000 T MLL AML 26 38 0 0 0.00106085 0 0 CLEC4D 338339 broad.mit.edu 37 12 8673834 8673834 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:8673834G>A ENST00000299665.2 + 6 808 c.615G>A c.(613-615)agG>agA p.R205R NM_080387.4 NP_525126.2 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D 205 C-type lectin. innate immune response integral to membrane sugar binding large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Lung SC(5;0.184) AAGCAAGTAGGATTTGTAAAA 0.368000 34 66 0 0 0.00058488 0 0 PTPN7 5778 broad.mit.edu 37 1 202121710 202121710 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:202121710C>T ENST00000309017.3 - 8 1923 c.1150G>A c.(1150-1152)Gag>Aag p.E384K PTPN7_ENST00000367279.4_Missense_Mutation_p.E318K|PTPN7_ENST00000544762.1_Missense_Mutation_p.E55K|PTPN7_ENST00000543735.1_Missense_Mutation_p.E108K|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000308986.5_Missense_Mutation_p.E279K NM_001199797.1|NM_002832.3 NP_001186726.1|NP_002823.3 P35236 PTN7_HUMAN protein tyrosine phosphatase, non-receptor type 7 279 cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1) 13 GCGGCTGTCTCCGGGCTCTCC 0.657000 8 16 0 0 0.000274275 0 0 ZNF99 7652 broad.mit.edu 37 19 22939118 22939118 + Missense_Mutation SNP T T A rs74170732 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:22939118T>A ENST00000397104.3 - 8 3002 c.3003A>T c.(3001-3003)aaA>aaT p.K1001N zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TATGAATTGTTTTATGTTGAG 0.368000 15 5 0 0 0.000422831 0 0 KCNAB3 9196 broad.mit.edu 37 17 7827774 7827774 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:7827774G>A ENST00000303790.2 - 9 669 c.670C>T c.(670-672)Cta>Tta p.L224L NM_004732.3 NP_004723.2 O43448 KCAB3_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 3 224 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity p.L224I(1) breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 8 Prostate(122;0.157) CCCCAGTATAGGGCCAGGCCC 0.557000 16 28 0 0 0.00074312 0 0 IL22RA1 58985 broad.mit.edu 37 1 24447335 24447335 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:24447335A>T ENST00000270800.1 - 7 1723 c.1685T>A c.(1684-1686)cTt>cAt p.L562H NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 562 integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) GCCTCTGAAAAGAGAATCCAG 0.602000 21 36 0 0 0.00106085 0 0 MAOB 4129 broad.mit.edu 37 X 43661466 43661466 + Nonsense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:43661466C>T ENST00000378069.4 - 5 576 c.429G>A c.(427-429)tgG>tgA p.W143* MAOB_ENST00000487544.1_5'UTR|MAOB_ENST00000538942.1_Nonsense_Mutation_p.W127*|MAOB_ENST00000536181.1_Nonsense_Mutation_p.W127* NM_000898.4 NP_000889.3 P27338 AOFB_HUMAN monoamine oxidase B 143 xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5) 21 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) TCATGTTGTCCCACTCTTCTG 0.438000 7 14 0 0 0.000274275 0 0 SLC26A9 115019 broad.mit.edu 37 1 205899142 205899142 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:205899142G>A ENST00000367135.3 - 6 708 c.595C>T c.(595-597)Ctc>Ttc p.L199F SLC26A9_ENST00000340781.4_Missense_Mutation_p.L199F|SLC26A9_ENST00000367134.2_Missense_Mutation_p.L199F NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 199 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GACTCGGAGAGGTAGATGGCC 0.562000 8 30 0 0 0.000274275 0 0 HMGXB4 10042 broad.mit.edu 37 22 35660647 35660647 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr22:35660647C>T ENST00000216106.5 + 5 394 c.266C>T c.(265-267)tCg>tTg p.S89L HMGXB4_ENST00000444518.2_5'UTR NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 89 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CTAGATATTTCGTCTTTGGAA 0.403000 113 32 0 0 0.000781405 0 0 CD1C 911 broad.mit.edu 37 1 158262012 158262012 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:158262012G>A ENST00000368170.3 + 3 746 c.467G>A c.(466-468)gGa>gAa p.G156E NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 156 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) CCAGGCTGTGGAAGTTTGGCC 0.448000 65 122 0 0 0.000781405 0 0 WWC3 55841 broad.mit.edu 37 X 10096186 10096186 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:10096186C>T ENST00000380861.4 + 16 2656 c.2265C>T c.(2263-2265)tcC>tcT p.S755S WWC3_ENST00000454666.1_Silent_p.S755S NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 755 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 ACACCATCTCCATCTCCGGCA 0.587000 19 35 0 0 0.000295444 0 0 MYO1G 64005 broad.mit.edu 37 7 45005329 45005329 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:45005329C>T ENST00000258787.7 - 17 2424 c.2288G>A c.(2287-2289)aGg>aAg p.R763K NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 763 myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 TGGCGGCTGCCTTGCAGCCTG 0.647000 13 25 0 0 0.00136819 0 0 HEATR3 55027 broad.mit.edu 37 16 50136199 50136199 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:50136199C>T ENST00000299192.7 + 14 1964 c.1773C>T c.(1771-1773)acC>acT p.T591T HEATR3_ENST00000285767.4_Silent_p.T505T|RP11-429P3.5_ENST00000566770.1_RNA NM_182922.2 NP_891552.1 Q7Z4Q2 HEAT3_HUMAN HEAT repeat containing 3 591 binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 TTGAAGTTACCACCAAAGATC 0.418000 29 67 0 0 0.00178596 0 0 ZBTB46 140685 broad.mit.edu 37 20 62421499 62421499 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:62421499C>T ENST00000245663.4 - 2 762 c.612G>A c.(610-612)aaG>aaA p.K204K ZBTB46_ENST00000395104.1_Silent_p.K204K|ZBTB46_ENST00000302995.2_Silent_p.K204K NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) GGCCATCGGCCTTGGGCTCCT 0.602000 8 25 0 0 0.000274275 0 0 HDAC9 9734 broad.mit.edu 37 7 18669046 18669046 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:18669046C>T ENST00000406451.3 + 7 879 c.729C>T c.(727-729)ctC>ctT p.L243L HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000405010.3_Silent_p.L243L|HDAC9_ENST00000406072.1_Intron|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000524023.1_Intron|HDAC9_ENST00000432645.2_Silent_p.L243L|HDAC9_ENST00000441542.2_Silent_p.L246L|HDAC9_ENST00000456174.2_Silent_p.L215L NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 243 Interaction with ETV6.|Interaction with MAPK10 (By similarity). B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GCCCCTTACTCAGGCGGAAGG 0.473000 29 24 0 0 0.00127121 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705314 41705314 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr13:41705314G>A ENST00000379485.1 - 1 1568 c.1334C>T c.(1333-1335)cCt>cTt p.P445L KBTBD6_ENST00000499385.2_Missense_Mutation_p.P379L NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 445 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) TCCAGTAATAGGGTCTCGCCC 0.468000 34 51 0 0 0.000814825 0 0 SRRM2 23524 broad.mit.edu 37 16 2812815 2812815 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:2812815C>T ENST00000301740.8 + 11 2835 c.2286C>T c.(2284-2286)ctC>ctT p.L762L NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 762 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GCAGGTCTCTCTCTTCACCAC 0.488000 48 97 0 0 0.000781405 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 68 53 0 0 0.000781405 0 0 DSCAML1 57453 broad.mit.edu 37 11 117302311 117302311 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:117302311G>A ENST00000321322.6 - 31 5494 c.5493C>T c.(5491-5493)tcC>tcT p.S1831S DSCAML1_ENST00000527706.1_Silent_p.S1561S NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1771 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CACCATGCTGGGAGCCCACGG 0.647000 25 16 0 0 0.000375601 0 0 C8orf47 203111 broad.mit.edu 37 8 99102037 99102037 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:99102037G>A ENST00000318528.3 + 2 1151 c.792G>A c.(790-792)gaG>gaA p.E264E C8orf47_ENST00000545282.1_Intron NM_173549.2 NP_775820.2 Q6P6B1 CH047_HUMAN chromosome 8 open reading frame 47 264 Glu-rich. kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2) 13 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) TTCCCAAAGAGAATGTAACAC 0.448000 15 13 0 0 0.000422831 0 0 PKP4 8502 broad.mit.edu 37 2 159522971 159522971 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:159522971C>T ENST00000389757.3 + 16 2749 c.2624C>T c.(2623-2625)cCc>cTc p.P875L PKP4_ENST00000389759.3_Missense_Mutation_p.P875L|PKP4_ENST00000495123.1_3'UTR|AC005042.4_ENST00000342892.4_RNA NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 875 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 AAGGGGCTCCCCATCCTTGTG 0.463000 HNSCC(62;0.18) 36 86 0 0 0.00111076 0 0 DCHS2 54798 broad.mit.edu 37 4 155219727 155219727 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:155219727C>T ENST00000357232.3 - 18 4373 c.4374G>A c.(4372-4374)agG>agA p.R1458R NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1458 Cadherin 12. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TTACAGAGCTCCTAGGTGGAT 0.473000 37 20 0 0 0.00111076 0 0 MYO15A 51168 broad.mit.edu 37 17 18022910 18022910 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:18022910C>T ENST00000205890.5 + 2 1134 c.796C>T c.(796-798)Ccc>Tcc p.P266S NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 266 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GGGCCTCGGCCCCTACAGCCC 0.647000 10 22 0 0 0.000978159 0 0 QPCT 25797 broad.mit.edu 37 2 37586815 37586815 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:37586815C>T ENST00000338415.3 + 3 518 c.360C>T c.(358-360)ttC>ttT p.F120F QPCT_ENST00000537448.1_Silent_p.F71F NM_012413.3 NP_036545.1 Q16769 QPCT_HUMAN glutaminyl-peptide cyclotransferase 120 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis extracellular region acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2) 17 Ovarian(717;0.051)|all_hematologic(82;0.21) ACCGGTCTTTCTCAAATATCA 0.478000 19 26 0 0 0.00074312 0 0 GCM1 8521 broad.mit.edu 37 6 52993716 52993716 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:52993716C>T ENST00000259803.7 - 6 810 c.599G>A c.(598-600)gGg>gAg p.G200E NM_003643.3 NP_003634.2 Q9NP62 GCM1_HUMAN glial cells missing homolog 1 (Drosophila) 200 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) AGGTAAACTCCCCTGACTTTG 0.428000 26 62 0 0 0.00178596 0 0 ZP4 57829 broad.mit.edu 37 1 238050115 238050115 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:238050115C>T ENST00000366570.4 - 6 953 c.795G>A c.(793-795)gtG>gtA p.V265V RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 265 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCCCATTTTTCACATCCCTAG 0.468000 34 97 0 0 0.000814825 0 0 RNF213 57674 broad.mit.edu 37 17 78268774 78268774 + Missense_Mutation SNP G G T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:78268774G>T ENST00000582970.1 + 9 1870 c.1727G>T c.(1726-1728)tGg>tTg p.W576L RNF213_ENST00000508628.2_Missense_Mutation_p.W625L|RNF213_ENST00000456466.1_Missense_Mutation_p.W576L|RNF213_ENST00000319921.4_Missense_Mutation_p.W576L NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 576 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GCACAGCTGTGGACCGATTTG 0.542000 15 45 3.52763e-06 1.98942e-05 0.000566183 1 0 SATL1 340562 broad.mit.edu 37 X 84349220 84349220 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:84349220C>T ENST00000509231.1 - 4 1869 c.1790G>A c.(1789-1791)gGa>gAa p.G597E SATL1_ENST00000395409.3_Missense_Mutation_p.G410E|SATL1_ENST00000332921.5_Missense_Mutation_p.G410E Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 410 N-acetyltransferase activity NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1) 29 CATGGCAAATCCAACAGTCAG 0.403000 30 60 0 0 0.000491102 0 0 QSER1 79832 broad.mit.edu 37 11 32995058 32995058 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:32995058C>T ENST00000399302.2 + 11 5269 c.4934C>T c.(4933-4935)aCt>aTt p.T1645I QSER1_ENST00000527788.1_Missense_Mutation_p.T1406I NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1645 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) AATAAGAAAACTCTAAGGACT 0.303000 28 35 0 0 0.000409698 0 0 DNAH11 8701 broad.mit.edu 37 7 21628202 21628202 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:21628202G>A ENST00000328843.6 + 11 1952 c.1921G>A c.(1921-1923)Gtt>Att p.V641I DNAH11_ENST00000409508.3_Missense_Mutation_p.V641I Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 641 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GGCCCAGCAGGTTCTCCAACG 0.403000 Kartagener syndrome 111 73 0 0 0.000781405 0 0 EPHA6 285220 broad.mit.edu 37 3 96706601 96706601 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:96706601C>T ENST00000389672.5 + 3 916 c.878C>T c.(877-879)tCa>tTa p.S293L EPHA6_ENST00000470610.2_Missense_Mutation_p.S293L|EPHA6_ENST00000542517.1_Missense_Mutation_p.S199L NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 198 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GCCCTGGTTTCAGTCCGTGTT 0.448000 97 138 0 0 0.000781405 0 0 C21orf59 56683 broad.mit.edu 37 21 33975427 33975427 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr21:33975427G>A ENST00000382549.4 - 5 1052 c.710C>T c.(709-711)tCc>tTc p.S237F C21ORF59_ENST00000607686.1_Intron|C21orf59_ENST00000290155.3_Intron|C21orf59_ENST00000540881.1_Missense_Mutation_p.S181F P57076 CU059_HUMAN chromosome 21 open reading frame 59 0 cytosol|nucleus endometrium(2)|large_intestine(1)|prostate(1)|skin(1) 5 AGTTTGAAGGGAAATAACAAA 0.318000 14 34 0 0 0.000151284 0 0 SRCRB4D 136853 broad.mit.edu 37 7 76026865 76026865 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:76026865G>A ENST00000275560.3 - 6 1185 c.838C>T c.(838-840)Cac>Tac p.H280Y ZP3_ENST00000336517.4_5'UTR NM_080744.1 NP_542782.1 Q8WTU2 SRB4D_HUMAN scavenger receptor cysteine rich domain containing, group B (4 domains) 280 SRCR 2. extracellular region|membrane scavenger receptor activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 TCCTCGTGGTGGCCGCAGTTG 0.736000 5 4 0 0 0.000602214 0 0 SMARCC2 6601 broad.mit.edu 37 12 56566415 56566415 + Missense_Mutation SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:56566415A>G ENST00000394023.3 - 19 1922 c.1817T>C c.(1816-1818)tTt>tCt p.F606S SMARCC2_ENST00000267064.4_Missense_Mutation_p.F575S|SMARCC2_ENST00000347471.4_Missense_Mutation_p.F606S|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.F606S NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 575 SANT. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) GCGCAGCCCAAAGTTTTGCAT 0.488000 32 51 0 0 0.000339439 0 0 OR51A2 401667 broad.mit.edu 37 11 4976637 4976637 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:4976637C>T ENST00000380371.1 - 1 306 c.307G>A c.(307-309)Gaa>Aaa p.E103K MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004748.1 NP_001004748.1 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, member 2 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGAAGAATTCCTGGGCAAAG 0.448000 56 26 0 0 0.000781405 0 0 SLC35C2 51006 broad.mit.edu 37 20 44987131 44987131 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:44987131G>A ENST00000372227.1 - 2 555 c.15C>T c.(13-15)gcC>gcT p.A5A SLC35C2_ENST00000317734.8_Silent_p.A5A|SLC35C2_ENST00000243896.2_Silent_p.A5A|SLC35C2_ENST00000372229.1_Intron|SLC35C2_ENST00000543605.1_Silent_p.A34A|SLC35C2_ENST00000372230.5_Silent_p.A5A Q9NQQ7 S35C2_HUMAN solute carrier family 35 (GDP-fucose transporter), member C2 5 transport integral to membrane cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 16 Myeloproliferative disorder(115;0.0122) CCACATCGAGGGCCCACCTCC 0.597000 12 29 0 0 0.000151284 0 0 DNAH11 8701 broad.mit.edu 37 7 21628203 21628203 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:21628203T>A ENST00000328843.6 + 11 1953 c.1922T>A c.(1921-1923)gTt>gAt p.V641D DNAH11_ENST00000409508.3_Missense_Mutation_p.V641D Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 641 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GCCCAGCAGGTTCTCCAACGA 0.408000 Kartagener syndrome 110 71 0 0 0.000781405 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43862502 43862502 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:43862502G>A ENST00000389420.3 - 8 1123 c.1124C>T c.(1123-1125)tCa>tTa p.S375L ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S375L NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 375 Peptidase M12B. proteinaceous extracellular matrix zinc ion binding p.S375L(2) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ACCTAAATATGATAAACCTGA 0.308000 29 34 0 0 0.001512 0 0 RELN 5649 broad.mit.edu 37 7 103276823 103276823 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:103276823G>A ENST00000424685.2 - 18 2321 c.2162C>T c.(2161-2163)tCc>tTc p.S721F RELN_ENST00000343529.5_Missense_Mutation_p.S721F|RELN_ENST00000428762.1_Missense_Mutation_p.S721F P78509 RELN_HUMAN reelin 721 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATGGTAAGAGGAGAGCCTGGA 0.488000 32 32 0 0 0.000491102 0 0 PCDHB5 26167 broad.mit.edu 37 5 140517259 140517259 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:140517259A>T ENST00000231134.5 + 1 2460 c.2243A>T c.(2242-2244)tAc>tTc p.Y748F NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 748 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCCAGAGCTACCACTACGAG 0.632000 53 95 0 0 0.000781405 0 0 AGO1 26523 broad.mit.edu 37 1 36359681 36359681 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:36359681C>T ENST00000373204.4 + 6 906 c.693C>T c.(691-693)ttC>ttT p.F231F AGO1_ENST00000373206.1_Silent_p.F156F NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 TGATTGAGTTCATGTGTGAGG 0.527000 29 44 0 0 0.000409698 0 0 SLIT2 9353 broad.mit.edu 37 4 20611774 20611774 + Silent SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:20611774T>A ENST00000504154.1 + 34 4083 c.3831T>A c.(3829-3831)tcT>tcA p.S1277S SLIT2_ENST00000503837.1_Silent_p.S1273S|SLIT2_ENST00000273739.5_Silent_p.S1290S|SLIT2_ENST00000503823.1_Silent_p.S1269S NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1277 Laminin G-like. S -> F. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ATTTTGACTCTCCACTCTATG 0.428000 28 22 0 0 0.000878237 0 0 RANBP17 64901 broad.mit.edu 37 5 170667979 170667979 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:170667979C>T ENST00000523189.1 + 23 2634 c.2470C>T c.(2470-2472)Cca>Tca p.P824S RANBP17_ENST00000521759.1_3'UTR NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 824 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCAGATTTATCCAATGAAACT 0.418000 T TRD@ ALL 59 93 0 0 0.000781405 0 0 GPR176 11245 broad.mit.edu 37 15 40099246 40099246 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:40099246G>A ENST00000299092.3 - 3 581 c.383C>T c.(382-384)tCt>tTt p.S128F GPR176_ENST00000560729.1_5'UTR|GPR176_ENST00000561100.1_Missense_Mutation_p.S129F|GPR176_ENST00000543580.1_Missense_Mutation_p.S84F NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 129 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) GATGGTCACAGAGCAGAATAC 0.433000 65 101 0 0 0.000781405 0 0 RPH3AL 9501 broad.mit.edu 37 17 97003 97003 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:97003C>T ENST00000323434.8 - 6 1022 c.425G>A c.(424-426)cGa>cAa p.R142Q RPH3AL_ENST00000576001.1_5'UTR|RPH3AL_ENST00000331302.7_Missense_Mutation_p.R171Q|RPH3AL_ENST00000536489.2_Missense_Mutation_p.R142Q NM_001190412.1 NP_001177341.1 Q9UNE2 RPH3L_HUMAN rabphilin 3A-like (without C2 domains) 171 RabBD. exocytosis|intracellular protein transport transport vesicle membrane cytoskeletal protein binding|Rab GTPase binding|zinc ion binding NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107) GTCATCAGCTCGGCCAGGGGT 0.622000 12 25 0 0 0.00136819 0 0 TLN2 83660 broad.mit.edu 37 15 63058542 63058542 + Missense_Mutation SNP C C T rs142261304 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:63058542C>T ENST00000561311.1 + 40 5347 c.5117C>T c.(5116-5118)tCg>tTg p.S1706L TLN2_ENST00000472902.1_Missense_Mutation_p.S99L|TLN2_ENST00000306829.6_Missense_Mutation_p.S1706L Q9Y4G6 TLN2_HUMAN talin 2 1706 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 CAGCTGACTTCGGTGGTCCAG 0.557000 21 36 0 0 0.000295444 0 0 AKAP4 8852 broad.mit.edu 37 X 49955652 49955652 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:49955652C>T ENST00000376056.2 - 6 2639 c.2489G>A c.(2488-2490)gGa>gAa p.G830E AKAP4_ENST00000376058.2_Missense_Mutation_p.G456E|AKAP4_ENST00000358526.2_Missense_Mutation_p.G839E|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.G830E Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 839 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) GGCCACCTTTCCCACAGCTTC 0.527000 18 57 0 0 0.00074312 0 0 PLD1 5337 broad.mit.edu 37 3 171330184 171330184 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:171330184G>A ENST00000356327.5 - 24 2723 c.2653C>T c.(2653-2655)Cgt>Tgt p.R885C PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.R923C|PLD1_ENST00000340989.4_Missense_Mutation_p.R923C NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 923 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) TCACTGTCACGCTTTCCCAGC 0.507000 25 37 0 0 0.000878237 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110451187 110451187 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:110451187G>A ENST00000378402.5 + 32 3926 c.3822G>A c.(3820-3822)gcG>gcA p.A1274A NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1274 IPT/TIG 6. immune response cytosol|extracellular space|integral to membrane receptor activity p.A1276A(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AAAACATGGCGGTGTATGTTG 0.338000 HNSCC(38;0.096) 30 35 0 0 0.00106085 0 0 CEP76 79959 broad.mit.edu 37 18 12699056 12699056 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr18:12699056G>A ENST00000262127.2 - 4 667 c.442C>T c.(442-444)Cgt>Tgt p.R148C CEP76_ENST00000423709.2_Intron|RP11-973H7.2_ENST00000585331.1_RNA|CEP76_ENST00000586887.1_5'UTR NM_024899.2 NP_079175.2 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 148 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GGTTTAGAACGAAAACGTTGG 0.373000 27 13 0 0 0.00106085 0 0 SERPINA12 145264 broad.mit.edu 37 14 94964174 94964174 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:94964174C>T ENST00000341228.2 - 3 1356 c.561G>A c.(559-561)ggG>ggA p.G187G SERPINA12_ENST00000556881.1_Silent_p.G187G NM_173850.2 NP_776249.1 Q8IW75 SPA12_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 187 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) TGTTAATTTTCCCATGGGTTT 0.403000 31 82 0 0 0.00178596 0 0 PBDC1 51260 broad.mit.edu 37 X 75397606 75397606 + Missense_Mutation SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:75397606A>G ENST00000373358.3 + 6 768 c.565A>G c.(565-567)Aat>Gat p.N189D PBDC1_ENST00000373357.3_Silent_p.R151R NM_016500.3 NP_057584.2 polysaccharide biosynthesis domain containing 1 gaacaccaagaatggaggaga 0.418000 7 11 0 0 8.12818e-05 0 0 CDH6 1004 broad.mit.edu 37 5 31313484 31313484 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:31313484G>A ENST00000265071.2 + 8 1578 c.1313G>A c.(1312-1314)gGt>gAt p.G438D CDH6_ENST00000514738.1_Missense_Mutation_p.G383D NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 438 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TCTGGAAATGGTTCGATTTTT 0.388000 53 55 0 0 0.000781405 0 0 LILRA3 11026 broad.mit.edu 37 19 54802162 54802162 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:54802162C>T ENST00000391745.1 - 10 1393 c.1077G>A c.(1075-1077)gtG>gtA p.V359V LILRA3_ENST00000251390.3_Silent_p.V342V|LILRA3_ENST00000391744.3_Silent_p.V278V leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ACAGCAGGGTCACGTTCTCTC 0.607000 10 31 0 0 0.000673444 0 0 DPYD 1806 broad.mit.edu 37 1 98060687 98060687 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:98060687C>T ENST00000370192.3 - 9 986 c.886G>A c.(886-888)Ggc>Agc p.G296S NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 296 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TGCGTCAGGCCTTGGAAGATG 0.373000 33 74 0 0 0.00128727 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147380 26147380 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:26147380C>T ENST00000331351.5 + 2 1574 c.1182C>T c.(1180-1182)ttC>ttT p.F394F HS3ST4_ENST00000475436.1_3'UTR NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 394 heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) CCAAGGGGTTCCCTTGCCTAA 0.512000 14 11 0 0 0.000219431 0 0 ZNF549 256051 broad.mit.edu 37 19 58046568 58046568 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:58046568C>T ENST00000602149.1 + 3 277 c.129C>T c.(127-129)ctC>ctT p.L43L ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Silent_p.L30L|ZNF549_ENST00000376233.3_Silent_p.L43L Q6P9A3 ZN549_HUMAN zinc finger protein 549 43 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGTGGGGCCTCCTTGATGAAG 0.493000 31 58 0 0 0.001512 0 0 CPS1 1373 broad.mit.edu 37 2 211455618 211455618 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:211455618C>T ENST00000233072.5 + 9 1131 c.935C>T c.(934-936)tCc>tTc p.S312F CPS1_ENST00000430249.2_Missense_Mutation_p.S318F NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 312 Glutamine amidotransferase type-1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TACAAGATGTCCATGGCCAAC 0.408000 34 70 0 0 0.000491102 0 0 ARHGEF9 23229 broad.mit.edu 37 X 62875602 62875602 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:62875602C>T ENST00000253401.6 - 8 1872 c.1072G>A c.(1072-1074)Gac>Aac p.D358N ARHGEF9_ENST00000433323.2_Missense_Mutation_p.D85N|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.D356N|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.D305N|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.D256N|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.D337N NM_015185.2 NP_056000.1 O43307 ARHG9_HUMAN Cdc42 guanine nucleotide exchange factor (GEF) 9 358 PH. apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1) 35 TACAGGATGTCTCTCCGGATT 0.468000 60 108 0 0 0.000781405 0 0 GABRP 2568 broad.mit.edu 37 5 170239061 170239061 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:170239061C>T ENST00000518525.1 + 11 1586 c.1122C>T c.(1120-1122)tcC>tcT p.S374S GABRP_ENST00000265294.4_Silent_p.S374S|GABRP_ENST00000519385.1_3'UTR O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 374 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTGAAATTTCCAGCGACAACG 0.403000 21 44 0 0 0.00121646 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42363686 42363686 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:42363686C>T ENST00000290472.3 - 16 1731 c.1637G>A c.(1636-1638)gGg>gAg p.G546E NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 546 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) CCAGGACTCCCCAGAACTGGT 0.557000 13 21 0 0 0.000308642 0 0 CSMD2 114784 broad.mit.edu 37 1 34033298 34033298 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:34033298C>T ENST00000373381.4 - 53 8451 c.8275G>A c.(8275-8277)Ggc>Agc p.G2759S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2736 Sushi 18. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACCACACTGCCCCGGTAGCTG 0.567000 5 20 0 0 0.000602214 0 0 NPSR1 387129 broad.mit.edu 37 7 34851447 34851447 + Silent SNP C C T rs116733850 byFrequency TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:34851447C>T ENST00000360581.1 + 4 578 c.450C>T c.(448-450)atC>atT p.I150I NPSR1_ENST00000359791.1_Silent_p.I150I|NPSR1_ENST00000531252.1_Silent_p.I139I|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000381539.3_Silent_p.I150I NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 150 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) ACCATGCCATCGTCTACCCCA 0.468000 82 75 0 0 0.000781405 0 0 EIF4E2 9470 broad.mit.edu 37 2 233422643 233422643 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:233422643T>A ENST00000409514.1 + 3 227 c.185T>A c.(184-186)tTt>tAt p.F62Y EIF4E2_ENST00000409394.1_Intron|EIF4E2_ENST00000409098.1_Missense_Mutation_p.F62Y|EIF4E2_ENST00000258416.3_Missense_Mutation_p.F62Y|EIF4E2_ENST00000409495.1_Missense_Mutation_p.F62Y|EIF4E2_ENST00000409322.1_Intron|EIF4E2_ENST00000409167.3_Intron O60573 IF4E2_HUMAN eukaryotic translation initiation factor 4E family member 2 62 regulation of translation cytoplasm|mRNA cap binding complex RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AACTACACTTTTTGGTACTCC 0.522000 40 49 0 0 0.00170553 0 0 OR4K14 122740 broad.mit.edu 37 14 20482421 20482421 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:20482421C>T ENST00000305045.2 - 1 931 c.932G>A c.(931-933)tGa>tAa p.*311* NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) GGCTGGATTTCATTGAAAAGT 0.353000 47 100 0 0 0.000781405 0 0 PDE1B 5153 broad.mit.edu 37 12 54966942 54966942 + Missense_Mutation SNP C C T rs137936270 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:54966942C>T ENST00000243052.3 + 8 1182 c.746C>T c.(745-747)tCg>tTg p.S249L PDE1B_ENST00000550620.1_Missense_Mutation_p.S229L|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.S208L NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 249 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 CACTGCCTGTCGGAGATTGAG 0.542000 30 51 0 0 0.00058488 0 0 ZNF835 90485 broad.mit.edu 37 19 57175912 57175912 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:57175912C>T ENST00000537055.2 - 2 886 c.655G>A c.(655-657)Gag>Aag p.E219K NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 TAGGGCCGCTCGCCCGTGTGC 0.711000 8 2 0 0 0.000274275 0 0 TCEB3B 51224 broad.mit.edu 37 18 44561311 44561311 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr18:44561311C>T ENST00000332567.4 - 1 677 c.325G>A c.(325-327)Gcc>Acc p.A109T KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 109 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 AAGCCCCAGGCCTTTTCCTGG 0.662000 26 47 0 0 0.001512 0 0 CPA6 57094 broad.mit.edu 37 8 68419059 68419059 + Nonsense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:68419059C>T ENST00000297770.4 - 6 814 c.599G>A c.(598-600)tGg>tAg p.W200* CPA6_ENST00000297769.4_Nonsense_Mutation_p.W52*|CPA6_ENST00000518549.1_Nonsense_Mutation_p.W200* NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 200 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) AGGACCAATCCATTCTCTTGC 0.423000 27 40 0 0 0.000692331 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560836 44560836 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr18:44560836G>A ENST00000332567.4 - 1 1152 c.800C>T c.(799-801)tCc>tTc p.S267F KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 267 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 ACTTGCCCAGGAGGGCATCCT 0.607000 32 59 0 0 0.00058488 0 0 SLC24A4 123041 broad.mit.edu 37 14 92958550 92958550 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:92958550C>T ENST00000532405.1 + 16 1908 c.1682C>T c.(1681-1683)tCc>tTc p.S561F SLC24A4_ENST00000298877.1_Missense_Mutation_p.S544F|SLC24A4_ENST00000531433.1_Missense_Mutation_p.S542F|SLC24A4_ENST00000351924.5_Missense_Mutation_p.S525F|SLC24A4_ENST00000393265.2_Missense_Mutation_p.S497F Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 561 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CTGGTCTATTCCGTGGTCCTG 0.512000 39 97 0 0 0.000509022 0 0 PTPRF 5792 broad.mit.edu 37 1 44083415 44083415 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:44083415G>A ENST00000359947.4 + 25 4544 c.4204G>A c.(4204-4206)Ggg>Agg p.G1402R PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.G761R|PTPRF_ENST00000438120.1_Missense_Mutation_p.G1393R|PTPRF_ENST00000372413.3_Missense_Mutation_p.G1393R|PTPRF_ENST00000372414.3_Missense_Mutation_p.G1402R NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1402 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AGGCGTCCCCGGGAGTGACTA 0.592000 10 20 0 0 0.000442599 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19418703 19418703 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:19418703C>T ENST00000538714.1 + 8 634 c.630C>T c.(628-630)atC>atT p.I210I PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000429027.2_Silent_p.I210I|PLEKHA5_ENST00000543806.1_Silent_p.I102I|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000424268.1_Silent_p.I102I|PLEKHA5_ENST00000299275.6_Silent_p.I210I|PLEKHA5_ENST00000309364.4_Silent_p.I210I|PLEKHA5_ENST00000317589.4_Silent_p.I210I|PLEKHA5_ENST00000359180.3_Silent_p.I210I|PLEKHA5_ENST00000355397.3_Silent_p.I210I NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 210 PH. 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) AAGAGGGTATCCTGGGAAGCA 0.318000 36 89 0 0 0.00148497 0 0 ASPG 374569 broad.mit.edu 37 14 104571006 104571006 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:104571006G>A ENST00000551177.1 + 9 1076 c.984G>A c.(982-984)gaG>gaA p.E328E ASPG_ENST00000546892.2_Silent_p.E328E|ASPG_ENST00000455920.2_Silent_p.E328E NM_001080464.2 NP_001073933.2 Q86U10 LPP60_HUMAN asparaginase homolog (S. cerevisiae) 328 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 TGACATCGGAGGCCGCCCTGG 0.692000 15 27 0 0 0.000219431 0 0 COL19A1 1310 broad.mit.edu 37 6 70672762 70672762 + Splice_Site SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:70672762G>A ENST00000322773.4 + 11 1128 c.1026_splice c.e11+1 p.K342_splice NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 342 Triple-helical region 1 (COL1). 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 CTGGTGAAAAGGTAAATATCT 0.303000 18 28 0 0 0.00152264 0 0 KANSL3 55683 broad.mit.edu 37 2 97278298 97278298 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:97278298G>A ENST00000599854.1 - 8 1121 c.654C>T c.(652-654)gtC>gtT p.V218V KANSL3_ENST00000431828.1_Silent_p.V305V|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Silent_p.V99V|KANSL3_ENST00000441706.2_Silent_p.V218V NM_001115016.2 NP_001108488.1 Q9P2N6 K1310_HUMAN KAT8 regulatory NSL complex subunit 3 305 CTACAGGGATGACCTGAAGGA 0.473000 28 46 0 0 0.00127121 0 0 ZFHX3 463 broad.mit.edu 37 16 72827786 72827786 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:72827786C>T ENST00000268489.5 - 9 9467 c.8795G>A c.(8794-8796)gGa>gAa p.G2932E ZFHX3_ENST00000397992.5_Missense_Mutation_p.G2018E NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2932 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GCCTGCAGATCCACTCGCACC 0.512000 31 41 0 0 0.00111076 0 0 OR5B12 390191 broad.mit.edu 37 11 58207395 58207395 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:58207395G>A ENST00000302572.2 - 1 251 c.230C>T c.(229-231)cCc>cTc p.P77L NM_001004733.2 NP_001004733.1 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, member 12 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) CATCACCTTGGGAGTGACAGC 0.438000 13 5 0 0 0.000219431 0 0 SLC34A3 142680 broad.mit.edu 37 9 140126205 140126205 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:140126205G>A ENST00000538474.1 + 2 275 c.51G>A c.(49-51)gcG>gcA p.A17A SLC34A3_ENST00000361134.2_Silent_p.A17A NM_001177316.1|NM_001177317.1 NP_001170787.1|NP_001170788.1 Q8N130 NPT2C_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 3 17 cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) CTCTGGACGCGGTTGACCTAG 0.647000 31 20 0 0 0.00111076 0 0 CACHD1 57685 broad.mit.edu 37 1 65143967 65143967 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:65143967C>T ENST00000371073.2 + 23 3218 c.3218C>T c.(3217-3219)cCc>cTc p.P1073L CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.P1022L Q5VU97 CAHD1_HUMAN cache domain containing 1 1073 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 GCCAAAAGTCCCTACGTTGAT 0.458000 19 14 0 0 0.00152264 0 0 AMHR2 269 broad.mit.edu 37 12 53819505 53819505 + Nonsense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:53819505G>A ENST00000257863.4 + 6 734 c.654G>A c.(652-654)tgG>tgA p.W218* AMHR2_ENST00000379791.3_Nonsense_Mutation_p.W218*|AMHR2_ENST00000550311.1_Nonsense_Mutation_p.W218* NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 218 Protein kinase. Mullerian duct regression ATP binding|hormone binding|metal ion binding breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) CAGTGGTTTGGGCCGGGCAGC 0.582000 7 14 0 0 0.000274275 0 0 DCUN1D5 84259 broad.mit.edu 37 11 102937231 102937231 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:102937231G>A ENST00000260247.5 - 5 749 c.407C>T c.(406-408)tCg>tTg p.S136L DCUN1D5_ENST00000531543.1_Missense_Mutation_p.S51L NM_032299.3 NP_115675.1 Q9BTE7 DCNL5_HUMAN DCN1, defective in cullin neddylation 1, domain containing 5 136 DCUN1. NS(1)|central_nervous_system(1)|endometrium(2) 4 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186) CTTAAATGACGAAATATCATT 0.303000 18 14 0 0 0.000229342 0 0 RYR3 6263 broad.mit.edu 37 15 33855110 33855110 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:33855110G>A ENST00000389232.4 + 11 1115 c.1045G>A c.(1045-1047)Gga>Aga p.G349R RYR3_ENST00000415757.3_Missense_Mutation_p.G349R NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 349 MIR 5. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AATCAAGTATGGAGATTCTGT 0.438000 25 45 0 0 0.000720815 0 0 PCLO 27445 broad.mit.edu 37 7 82475907 82475907 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:82475907C>T ENST00000423517.2 - 12 14144 c.13807G>A c.(13807-13809)Gaa>Aaa p.E4603K PCLO_ENST00000333891.8_Missense_Mutation_p.E4603K|PCLO_ENST00000426442.2_5'UTR NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4491 C2 1. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.E4603K(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCATGAAGTTCCAGATGCTGG 0.338000 19 48 0 0 0.000586117 0 0 ANKRD12 23253 broad.mit.edu 37 18 9255150 9255150 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr18:9255150C>T ENST00000383440.2 + 8 2073 c.1816C>T c.(1816-1818)Cat>Tat p.H606Y ANKRD12_ENST00000400020.3_Missense_Mutation_p.H606Y|ANKRD12_ENST00000262126.3_Missense_Mutation_p.H629Y NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 629 nucleus p.H629Y(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 GGATGAAGATCATAGTCCAAC 0.284000 33 15 0 0 0.000409698 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39171442 39171442 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:39171442G>A ENST00000297668.6 - 8 1330 c.1257C>T c.(1255-1257)ttC>ttT p.F419F CNTNAP3_ENST00000377656.2_Silent_p.F419F|CNTNAP3_ENST00000358144.2_Silent_p.F331F|CNTNAP3_ENST00000377659.1_Silent_p.F419F|CNTNAP3_ENST00000323947.7_Silent_p.F419F NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 419 Laminin G-like 2. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAAGAGGACGAAACTCCCTG 0.483000 35 17 0 0 0.000692331 0 0 SYNE3 161176 broad.mit.edu 37 14 95903214 95903214 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:95903214G>A ENST00000334258.5 - 14 2495 c.2481C>T c.(2479-2481)atC>atT p.I827I SYNE3_ENST00000554873.1_Silent_p.I584I|SYNE3_ENST00000557275.1_Silent_p.I822I NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 TCATTGCGATGATTCTAACCA 0.493000 37 73 0 0 0.00170553 0 0 SLC15A1 6564 broad.mit.edu 37 13 99356685 99356685 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr13:99356685T>A ENST00000376503.5 - 17 1329 c.1274A>T c.(1273-1275)aAt>aTt p.N425I NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 425 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) CATAAATGCATTTGTCTATAG 0.418000 26 46 0 0 0.00106085 0 0 PAPD7 11044 broad.mit.edu 37 5 6751215 6751215 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:6751215C>T ENST00000230859.6 + 11 1303 c.1174C>T c.(1174-1176)Cct>Tct p.P392S NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 392 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 AGCGCCAGCTCCTCTCATGGC 0.537000 22 59 0 0 0.00047179 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146805346 146805346 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:146805346G>A ENST00000361727.3 + 5 1174 c.658G>A c.(658-660)Gaa>Aaa p.E220K NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 220 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TAAGACGTCTGAAAGTGAAGG 0.388000 HNSCC(39;0.1) 21 64 0 0 0.000375601 0 0 TCEAL3 85012 broad.mit.edu 37 X 102864578 102864578 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:102864578G>A ENST00000372628.1 + 3 944 c.586G>A c.(586-588)Gat>Aat p.D196N TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Missense_Mutation_p.D196N|TCEAL3_ENST00000243286.3_Missense_Mutation_p.D196N Q969E4 TCAL3_HUMAN transcription elongation factor A (SII)-like 3 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 16 GGGCTTACACGATATCCCATA 0.527000 26 53 0 0 0.00127121 0 0 CLDN16 10686 broad.mit.edu 37 3 190106098 190106098 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:190106098C>T ENST00000264734.2 + 1 438 c.190C>T c.(190-192)Cct>Tct p.P64S CLDN16_ENST00000456423.1_Missense_Mutation_p.P64S|CLDN16_ENST00000468220.1_Intron NM_006580.3 NP_006571.1 Q9Y5I7 CLD16_HUMAN claudin 16 64 calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) ATGTTGCCATCCTGATGGGCT 0.498000 13 36 0 0 0.00136819 0 0 SEPT1 1731 broad.mit.edu 37 16 30392719 30392719 + Missense_Mutation SNP C C G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:30392719C>G ENST00000321367.3 - 6 567 c.522G>C c.(520-522)aaG>aaC p.K174N SEPT1_ENST00000605106.1_Missense_Mutation_p.K132N|SEPT1_ENST00000571393.1_Missense_Mutation_p.K127N NM_052838.4 NP_443070.5 Q8WYJ6 SEPT1_HUMAN septin 1 127 cell cycle|cell division microtubule organizing center|septin complex GTP binding|protein binding breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1) 24 Colorectal(24;0.193) CCTGGATGTTCTTCCGGTTCA 0.597000 25 41 0 0 0.000878237 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33016551 33016551 + Missense_Mutation SNP A A C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr13:33016551A>C ENST00000357505.6 - 7 2182 c.2078T>G c.(2077-2079)cTt>cGt p.L693R N4BP2L2_ENST00000399396.3_Missense_Mutation_p.L708R|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.L611R|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.L693R NM_001278432.1 NP_001265361.1 Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 0 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) AGATCCAAAAAGCTTTACTAA 0.398000 10 10 0 0 0.000673444 0 0 EPHX1 2052 broad.mit.edu 37 1 226019641 226019641 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:226019641C>T ENST00000366837.4 + 3 541 c.345C>T c.(343-345)caC>caT p.H115H EPHX1_ENST00000272167.5_Silent_p.H115H|EPHX1_ENST00000467015.1_3'UTR NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 115 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) GATACCCTCACTTCAAGACTA 0.438000 17 49 0 0 0.00152264 0 0 ARAF 369 broad.mit.edu 37 X 47426163 47426163 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:47426163A>T ENST00000377045.4 + 7 877 c.683A>T c.(682-684)gAc>gTc p.D228V ARAF_ENST00000290277.6_Intron NM_001256196.1|NM_001654.4 NP_001243125.1|NP_001645.1 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene homolog 228 intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 29 Adenosine triphosphate(DB00171) GCCCCCATGGACTCCAACCTC 0.627000 19 28 0 0 0.000295444 0 0 GMIP 51291 broad.mit.edu 37 19 19744700 19744700 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:19744700G>A ENST00000203556.4 - 19 2521 c.2384C>T c.(2383-2385)tCc>tTc p.S795F GMIP_ENST00000587238.1_Missense_Mutation_p.S769F|GMIP_ENST00000445806.2_Missense_Mutation_p.S766F NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 795 Pro-rich. negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 tgggggctgggagtctgggtc 0.697000 5 9 0 0 0.000602214 0 0 TDP2 51567 broad.mit.edu 37 6 24653351 24653351 + Missense_Mutation SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:24653351T>C ENST00000341060.3 - 5 888 c.493A>G c.(493-495)Atg>Gtg p.M165V TDP2_ENST00000378198.4_Missense_Mutation_p.M223V|TDP2_ENST00000545995.1_Missense_Mutation_p.M253V O95551 TYDP2_HUMAN tyrosyl-DNA phosphodiesterase 2 223 cell surface receptor linked signaling pathway|double-strand break repair PML body 5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity kidney(2)|large_intestine(1)|lung(5)|ovary(1) 9 TGGGATGTCATAAGGCAAAGC 0.408000 Direct reversal of damage 108 164 0 0 0.000781405 0 0 GPR98 84059 broad.mit.edu 37 5 90020993 90020993 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:90020993G>A ENST00000405460.2 + 47 10093 c.9997G>A c.(9997-9999)Gaa>Aaa p.E3333K NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3333 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AAGAAATGAAGAAAAGCCTTC 0.274000 8 30 0 0 0.000274275 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175718 143175718 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:143175718C>T ENST00000408916.1 + 1 753 c.753C>T c.(751-753)atC>atT p.I251I EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 251 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) TGTCCCTGATCATTGATGCCG 0.502000 54 75 0 0 0.000781405 0 0 ALAS1 211 broad.mit.edu 37 3 52248117 52248117 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:52248117C>T ENST00000394965.2 + 12 2204 c.1844C>T c.(1843-1845)cCa>cTa p.P615L ALAS1_ENST00000469224.1_Missense_Mutation_p.P615L|ALAS1_ENST00000310271.2_Missense_Mutation_p.P615L|ALAS1_ENST00000484952.1_Missense_Mutation_p.P615L NM_000688.5 NP_000679.1 P13196 HEM1_HUMAN aminolevulinate, delta-, synthase 1 615 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TGCAGGAGGCCACTGCATTTT 0.468000 29 52 0 0 0.001512 0 0 TNXB 7148 broad.mit.edu 37 6 32017250 32017250 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:32017250G>A ENST00000375244.3 - 28 9755 c.9554C>T c.(9553-9555)tCc>tTc p.S3185F TNXB_ENST00000375247.2_Missense_Mutation_p.S3183F P22105 TENX_HUMAN tenascin XB 3230 Fibronectin type-III 23. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GACGGTCCAGGAGAGGCTCAG 0.682000 125 194 0 0 0.000781405 0 0 TEC 7006 broad.mit.edu 37 4 48147256 48147256 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:48147256G>A ENST00000381501.3 - 14 1467 c.1310C>T c.(1309-1311)cCa>cTa p.P437L TEC_ENST00000511471.2_5'UTR NM_003215.2 NP_003206.2 P42680 TEC_HUMAN tec protein tyrosine kinase 437 Protein kinase. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 AATGTATATTGGTTTCTGCTG 0.433000 28 45 0 0 0.000339439 0 0 GABBR1 2550 broad.mit.edu 37 6 29581119 29581119 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:29581119G>A ENST00000377034.4 - 12 1802 c.1467C>T c.(1465-1467)ggC>ggT p.G489G GABBR1_ENST00000355973.3_Silent_p.G372G|GABBR1_ENST00000377016.4_Silent_p.G427G|GABBR1_ENST00000377012.4_Silent_p.G372G|GABBR1_ENST00000376977.3_Silent_p.G489G NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 489 G -> S (in dbSNP:rs1805057). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) CACCAGAACGGCCGCCTCCTC 0.577000 37 60 0 0 0.000953801 0 0 SCN1A 6323 broad.mit.edu 37 2 166859089 166859089 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:166859089G>A ENST00000423058.2 - 21 4194 c.4177C>T c.(4177-4179)Cat>Tat p.H1393Y SCN1A_ENST00000409050.1_Missense_Mutation_p.H1365Y|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.H1393Y|SCN1A_ENST00000375405.3_Missense_Mutation_p.H1382Y NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1393 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CAATCAGTATGATTATTCACG 0.363000 24 39 0 0 0.000586117 0 0 NAA25 80018 broad.mit.edu 37 12 112498129 112498129 + Silent SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:112498129A>T ENST00000261745.4 - 13 1640 c.1392T>A c.(1390-1392)tcT>tcA p.S464S NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 464 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 AGTAATAGTCAGAAAATTGCA 0.348000 19 48 0 0 0.000586117 0 0 NR2F6 2063 broad.mit.edu 37 19 17351572 17351572 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:17351572G>A ENST00000291442.3 - 2 1000 c.281C>T c.(280-282)tCc>tTc p.S94F AC010646.3_ENST00000594059.1_5'UTR NM_005234.3 NP_005225.2 P10588 NR2F6_HUMAN nuclear receptor subfamily 2, group F, member 6 94 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding p.S94Y(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(1) 5 GTCACGGTTGGACCTGGGGGC 0.612000 15 46 0 0 0.00074312 0 0 PHF7 51533 broad.mit.edu 37 3 52457136 52457136 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:52457136C>T ENST00000327906.3 + 11 1609 c.949C>T c.(949-951)Cct>Tct p.P317S PHF7_ENST00000478707.1_Missense_Mutation_p.P317S|PHF7_ENST00000347025.2_Missense_Mutation_p.P278S NM_016483.4 NP_057567.3 Q9BWX1 PHF7_HUMAN PHD finger protein 7 317 nucleus zinc ion binding breast(2)|large_intestine(4)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275) AGGGGACATCCCTTGCTGCAG 0.527000 26 60 0 0 0.00106085 0 0 FAM83H 286077 broad.mit.edu 37 8 144810890 144810890 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:144810890G>A ENST00000388913.3 - 5 866 c.741C>T c.(739-741)ttC>ttT p.F247F NM_198488.3 NP_940890.3 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 247 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) AGGACCACATGAAGCTGTGGG 0.652000 10 21 0 0 0.000978159 0 0 B3GALTL 145173 broad.mit.edu 37 13 31903644 31903644 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr13:31903644C>T ENST00000343307.4 + 15 1485 c.1336C>T c.(1336-1338)Ccg>Tcg p.P446S NM_194318.3 NP_919299.3 Q6Y288 B3GLT_HUMAN beta 1,3-galactosyltransferase-like 446 fucose metabolic process endoplasmic reticulum membrane|integral to membrane transferase activity, transferring glycosyl groups breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung SC(185;0.0257) all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184) GCAGGCTCGGCCGGTGGATTA 0.418000 40 57 0 0 0.000589545 0 0 GPR153 387509 broad.mit.edu 37 1 6314056 6314056 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:6314056G>A ENST00000377893.2 - 3 767 c.508C>T c.(508-510)Ctg>Ttg p.L170L NM_207370.2 NP_997253.2 Q6NV75 GP153_HUMAN G protein-coupled receptor 153 170 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1) 14 Ovarian(185;0.0634) all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246) CCAAAGCCCAGGCCGATCTCA 0.662000 5 13 0 0 0.000602214 0 0 PSG11 5680 broad.mit.edu 37 19 43522979 43522979 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:43522979C>T ENST00000401740.1 - 3 755 c.652G>A c.(652-654)Gaa>Aaa p.E218K PSG11_ENST00000306322.7_Missense_Mutation_p.E96K|PSG11_ENST00000403486.1_Missense_Mutation_p.E96K|PSG11_ENST00000320078.7_Missense_Mutation_p.E218K|PSG11_ENST00000595312.1_5'UTR Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 218 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) TTCCATATTTCACATTCATAG 0.507000 89 181 0 0 0.000781405 0 0 SALL1 6299 broad.mit.edu 37 16 51175771 51175771 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:51175771C>T ENST00000440970.1 - 2 502 c.71G>A c.(70-72)aGg>aAg p.R24K SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.R121K NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 121 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GGACTCTTCCCTGTCAAGTCC 0.552000 23 68 0 0 0.000878237 0 0 SMG7 9887 broad.mit.edu 37 1 183515287 183515287 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:183515287C>T ENST00000367537.3 + 18 2701 c.2506C>T c.(2506-2508)Ccc>Tcc p.P836S SMG7_ENST00000347615.2_Missense_Mutation_p.P853S|SMG7_ENST00000508461.1_Missense_Mutation_p.P811S|SMG7_ENST00000515829.2_Missense_Mutation_p.P807S|SMG7_ENST00000507469.1_Missense_Mutation_p.P807S|SMG7_ENST00000456731.2_Missense_Mutation_p.P765S Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 853 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GAAGCCTTTTCCCATGGAGCC 0.448000 29 38 0 0 0.00127121 0 0 MAN1A1 4121 broad.mit.edu 37 6 119569520 119569520 + Splice_Site SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:119569520C>T ENST00000368468.3 - 6 1339 c.e6-1 MAN1A1_ENST00000368466.2_Splice_Site NM_005907.3 NP_005898.2 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) TTCGAAAAATCTGAAAAGTCA 0.338000 15 18 0 0 0.000422831 0 0 NAA11 84779 broad.mit.edu 37 4 80246535 80246535 + Missense_Mutation SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:80246535T>C ENST00000286794.4 - 1 669 c.497A>G c.(496-498)aAg>aGg p.K166R NAA11_ENST00000513733.1_5'UTR NM_032693.2 NP_116082.1 Q9BSU3 NAA11_HUMAN N(alpha)-acetyltransferase 11, NatA catalytic subunit 166 cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2) 23 ATACCCGCCCTTCTTCAGGTC 0.537000 10 5 0 0 0.000442599 0 0 PFAS 5198 broad.mit.edu 37 17 8159960 8159960 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:8159960C>T ENST00000314666.6 + 8 1073 c.940C>T c.(940-942)Ccc>Tcc p.P314S PFAS_ENST00000545834.1_5'UTR NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 314 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TCACAACTTTCCCACAGGTGA 0.562000 22 23 0 0 0.000586117 0 0 MROH2B 133558 broad.mit.edu 37 5 41019062 41019062 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:41019062G>A ENST00000399564.4 - 25 2950 c.2500C>T c.(2500-2502)Cgg>Tgg p.R834W MROH2B_ENST00000506092.2_Missense_Mutation_p.R389W NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AGCAGCCTCCGAATATTCTCC 0.463000 10 35 0 0 0.000673444 0 0 TMTC1 83857 broad.mit.edu 37 12 29786178 29786178 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:29786178G>A ENST00000256062.5 - 6 1179 c.706C>T c.(706-708)Cct>Tct p.P236S TMTC1_ENST00000381224.2_Missense_Mutation_p.P298S|TMTC1_ENST00000552618.1_Missense_Mutation_p.P406S|TMTC1_ENST00000539277.1_Missense_Mutation_p.P344S|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.P406S NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 344 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) TCTACCAGAGGAATACTGCCG 0.507000 34 50 0 0 0.000491102 0 0 PAPPA2 60676 broad.mit.edu 37 1 176668404 176668404 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:176668404C>T ENST00000367662.3 + 8 4079 c.2915C>T c.(2914-2916)tCc>tTc p.S972F NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 972 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGGGTCACTTCCTTCTTCATG 0.557000 44 101 0 0 0.000509022 0 0 FER 2241 broad.mit.edu 37 5 108523217 108523217 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:108523217C>T ENST00000281092.4 + 20 2794 c.2410C>T c.(2410-2412)Cgc>Tgc p.R804C FER_ENST00000438717.2_Missense_Mutation_p.R629C NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 804 Protein kinase. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) ACCTGAAAATCGCCCTAAGTT 0.453000 33 35 0 0 0.000409698 0 0 OR4F15 390649 broad.mit.edu 37 15 102358668 102358668 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:102358668C>T ENST00000332238.4 + 1 303 c.279C>T c.(277-279)tcC>tcT p.S93S NM_001001674.1 NP_001001674.1 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, member 15 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10) 19 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) AGGCCATCTCCTTTCGGGGAT 0.443000 38 64 0 0 0.000953801 0 0 PAPLN 89932 broad.mit.edu 37 14 73720524 73720524 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:73720524C>T ENST00000427855.1 + 12 1259 c.1157C>T c.(1156-1158)tCc>tTc p.S386F PAPLN_ENST00000340738.5_Missense_Mutation_p.S359F|PAPLN_ENST00000555445.1_Missense_Mutation_p.S386F|PAPLN_ENST00000554301.1_Missense_Mutation_p.S386F|PAPLN_ENST00000381166.3_Missense_Mutation_p.S386F O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 386 TSP type-1 3. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CAGTCCCGCTCCGTGTACTGC 0.682000 21 41 0 0 0.000375601 0 0 SMCO3 440087 broad.mit.edu 37 12 14958949 14958949 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:14958949G>A ENST00000316048.2 - 2 738 c.666C>T c.(664-666)caC>caT p.H222H C12orf60_ENST00000330828.2_Intron|C12orf60_ENST00000527783.1_Intron NM_001013698.2 NP_001013720.2 single-pass membrane protein with coiled-coil domains 3 ATTTCATTTGGTGTTTCACTG 0.368000 31 57 0 0 0.00178596 0 0 PLLP 51090 broad.mit.edu 37 16 57295862 57295862 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:57295862G>A ENST00000219207.5 - 2 402 c.256C>T c.(256-258)Ctc>Ttc p.L86F PLLP_ENST00000569059.1_Intron NM_015993.2 NP_057077.1 Q9Y342 PLLP_HUMAN plasmolipin 86 MARVEL. integral to membrane ion channel activity endometrium(1)|prostate(1) 2 AACAGGTAGAGGTTGAAGAGG 0.567000 22 32 0 0 0.000375601 0 0 ITGAD 3681 broad.mit.edu 37 16 31424248 31424248 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:31424248G>A ENST00000389202.2 + 15 1846 c.1797G>A c.(1795-1797)atG>atA p.M599I NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 599 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 ATGGACTGATGGACCTGGCCG 0.667000 26 29 0 0 0.00106085 0 0 S100A7L2 645922 broad.mit.edu 37 1 153409599 153409599 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:153409599C>T ENST00000368725.2 - 3 273 c.274G>A c.(274-276)Gat>Aat p.D92N NM_001045479.1 NP_001038944.2 S100 calcium binding protein A7-like 2 NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 8 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) ATGGTTATATCCCCCAGCAAG 0.473000 57 72 0 0 0.000781405 0 0 ATAD5 79915 broad.mit.edu 37 17 29220499 29220499 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:29220499G>A ENST00000321990.4 + 21 5006 c.4628G>A c.(4627-4629)aGt>aAt p.S1543N NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1543 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GCAACAAAAAGTATGAATTGT 0.353000 36 56 0 0 0.00058488 0 0 APOC4-APOC2 100533990 broad.mit.edu 37 19 45448482 45448482 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:45448482C>T ENST00000419266.2 + 3 344 c.304C>T c.(304-306)Ctc>Ttc p.L102F APOC4-APOC2_ENST00000589057.1_Intron|APOC4_ENST00000592954.1_Missense_Mutation_p.L102F|APOC4-APOC2_ENST00000436871.1_Missense_Mutation_p.L102F GGCCTGGTTCCTCGAATCCAA 0.567000 141 209 0 0 0.000781405 0 0 PTPRK 5796 broad.mit.edu 37 6 128400043 128400043 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:128400043C>T ENST00000368227.3 - 11 2164 c.1798G>A c.(1798-1800)Gaa>Aaa p.E600K PTPRK_ENST00000368213.5_Missense_Mutation_p.E600K|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.E600K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E600K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E600K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E600K|PTPRK_ENST00000368207.3_Missense_Mutation_p.E600K Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 600 Fibronectin type-III 4. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TCAACTCCTTCATAGTCAGGT 0.383000 45 67 0 0 0.000781405 0 0 COL13A1 1305 broad.mit.edu 37 10 71689802 71689802 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:71689802G>A ENST00000356340.3 + 27 1992 c.1456G>A c.(1456-1458)Gag>Aag p.E486K COL13A1_ENST00000520267.1_Missense_Mutation_p.E429K|COL13A1_ENST00000398969.3_Missense_Mutation_p.E429K|COL13A1_ENST00000398966.3_Missense_Mutation_p.E464K|COL13A1_ENST00000398971.3_Missense_Mutation_p.E486K|COL13A1_ENST00000517713.1_Missense_Mutation_p.E464K|COL13A1_ENST00000520133.1_Missense_Mutation_p.E435K|COL13A1_ENST00000357811.3_Missense_Mutation_p.E464K|COL13A1_ENST00000354547.3_Missense_Mutation_p.E464K|COL13A1_ENST00000398972.3_Missense_Mutation_p.E486K|COL13A1_ENST00000398964.3_Missense_Mutation_p.E457K|COL13A1_ENST00000522165.1_Missense_Mutation_p.E467K|COL13A1_ENST00000398978.3_Missense_Mutation_p.E486K|COL13A1_ENST00000398973.3_Missense_Mutation_p.E486K|COL13A1_ENST00000398974.3_Missense_Mutation_p.E474K|COL13A1_ENST00000398968.3_Missense_Mutation_p.E467K Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 486 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) GTTACAGGGGGAGATTGGACT 0.552000 10 7 0 0 0.00136819 0 0 HSD11B1L 374875 broad.mit.edu 37 19 5687897 5687897 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:5687897C>T ENST00000581521.1 + 10 1277 c.802C>T c.(802-804)Ccg>Tcg p.P268S HSD11B1L_ENST00000339423.2_Missense_Mutation_p.P268S|HSD11B1L_ENST00000423665.2_Intron|HSD11B1L_ENST00000577917.1_Intron|HSD11B1L_ENST00000411793.2_Intron|HSD11B1L_ENST00000583928.1_Missense_Mutation_p.P134S|HSD11B1L_ENST00000581893.1_Missense_Mutation_p.P134S|RPL36_ENST00000582380.2_Intron|RPL36_ENST00000579649.1_Intron|HSD11B1L_ENST00000581773.1_Missense_Mutation_p.P268S|HSD11B1L_ENST00000301382.4_Missense_Mutation_p.P187S|HSD11B1L_ENST00000342970.2_Missense_Mutation_p.P181S|RPL36_ENST00000577222.1_Intron Q7Z5J1 DHI1L_HUMAN hydroxysteroid (11-beta) dehydrogenase 1-like 0 extracellular region binding|oxidoreductase activity GCGCTGGCTACCGCGCCCGCG 0.731000 3 3 0 0 0.00024832 0 0 PNLDC1 154197 broad.mit.edu 37 6 160239996 160239996 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:160239996T>A ENST00000275275.5 + 17 1414 c.1243T>A c.(1243-1245)Tat>Aat p.Y415N PNLDC1_ENST00000392167.3_Missense_Mutation_p.Y426N NM_001271862.1|NM_173516.1 NP_001258791.1|NP_775787.1 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain containing 1 415 integral to membrane|nucleus nucleic acid binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TGGTCCAGATTATCCCAGTAT 0.443000 30 54 0 0 0.000692331 0 0 FTHL17 53940 broad.mit.edu 37 X 31089734 31089734 + Nonsense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:31089734G>A ENST00000359202.3 - 1 436 c.337C>T c.(337-339)Cag>Tag p.Q113* NM_031894.2 NP_114100.1 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 113 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 23 AGCAGGCTCTGGTTGACGTTC 0.607000 24 36 0 0 0.000878237 0 0 BAI3 577 broad.mit.edu 37 6 70070771 70070771 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:70070771G>A ENST00000370598.1 + 29 4427 c.3606G>A c.(3604-3606)aaG>aaA p.K1202K BAI3_ENST00000238918.8_Silent_p.K408K|BAI3_ENST00000546190.1_Silent_p.K166K NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1202 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TTCTTCATAAGGATATTGGTC 0.353000 17 42 0 0 0.000958276 0 0 ZNF614 80110 broad.mit.edu 37 19 52519474 52519474 + Silent SNP T T C rs73934727 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:52519474T>C ENST00000270649.6 - 5 1921 c.1377A>G c.(1375-1377)gaA>gaG p.E459E ZNF614_ENST00000356322.6_Intron NM_025040.3 NP_079316.2 Q8N883 ZN614_HUMAN zinc finger protein 614 459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) CTTTACCACATTCATTGCATT 0.403000 34 62 0 0 0.00058488 0 0 WDR74 54663 broad.mit.edu 37 11 62603256 62603256 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:62603256G>A ENST00000525239.1 - 6 964 c.427C>T c.(427-429)Ccc>Tcc p.P143S WDR74_ENST00000278856.4_Missense_Mutation_p.P143S|WDR74_ENST00000525752.1_Missense_Mutation_p.P86S|WDR74_ENST00000311713.7_Missense_Mutation_p.P143S|WDR74_ENST00000540620.1_5'UTR|WDR74_ENST00000529106.1_Missense_Mutation_p.P143S Q6RFH5 WDR74_HUMAN WD repeat domain 74 143 nucleolus kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1) 8 ACCACATGGGGGTGTGCTGGG 0.532000 12 3 0 0 0.000151284 0 0 POPDC2 64091 broad.mit.edu 37 3 119367478 119367478 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:119367478G>A ENST00000493094.1 - 3 1097 c.638C>T c.(637-639)tCc>tTc p.S213F POPDC2_ENST00000264231.3_Missense_Mutation_p.S213F|POPDC2_ENST00000538678.1_Missense_Mutation_p.S213F|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000468801.1_Missense_Mutation_p.S213F Q9HBU9 POPD2_HUMAN popeye domain containing 2 213 integral to membrane breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 13 GBM - Glioblastoma multiforme(114;0.242) CCGGGGCCAGGAAATGTAGCT 0.473000 29 44 0 0 0.00111076 0 0 KIAA1462 57608 broad.mit.edu 37 10 30336727 30336727 + Missense_Mutation SNP T T A rs112079947 by1000genomes TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:30336727T>A ENST00000375377.1 - 2 116 c.15A>T c.(13-15)gaA>gaT p.E5D NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 5 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TCAGGAGGTCTTCTACACTGT 0.567000 28 16 0 0 0.001512 0 0 MUC16 94025 broad.mit.edu 37 19 9063850 9063850 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:9063850C>T ENST00000397910.4 - 3 23799 c.23596G>A c.(23596-23598)Gaa>Aaa p.E7866K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7868 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGACGTCTTCCTTGGAGATC 0.537000 17 36 0 0 0.000422831 0 0 XPO6 23214 broad.mit.edu 37 16 28146632 28146632 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:28146632G>A ENST00000304658.5 - 10 1848 c.1348C>T c.(1348-1350)Ctg>Ttg p.L450L XPO6_ENST00000565698.1_Silent_p.L436L NM_015171.2 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 450 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 AGGAGCACCAGGGCATCTTCG 0.463000 35 70 0 0 0.00111076 0 0 CPS1 1373 broad.mit.edu 37 2 211455619 211455619 + Silent SNP C C A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:211455619C>A ENST00000233072.5 + 9 1132 c.936C>A c.(934-936)tcC>tcA p.S312S CPS1_ENST00000430249.2_Silent_p.S318S NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 312 Glutamine amidotransferase type-1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) ACAAGATGTCCATGGCCAACA 0.408000 33 69 1.62565e-12 9.20993e-12 0.000409698 1 0 SLMAP 7871 broad.mit.edu 37 3 57843838 57843838 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:57843838C>T ENST00000383718.3 + 7 737 c.639C>T c.(637-639)ctC>ctT p.L213L SLMAP_ENST00000449503.2_Silent_p.L213L|SLMAP_ENST00000428312.1_Silent_p.L213L|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295951.3_Silent_p.L213L|SLMAP_ENST00000295952.3_Silent_p.L213L Q14BN4 SLMAP_HUMAN sarcolemma associated protein 213 muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) AAGATAGACTCTTATCACGGT 0.303000 64 36 0 0 0.000781405 0 0 DSPP 1834 broad.mit.edu 37 4 88534101 88534101 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:88534101G>A ENST00000399271.1 + 4 883 c.763G>A c.(763-765)Gaa>Aaa p.E255K RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.E255K NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 255 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) AGATGAGGATGAAGACGAGGG 0.502000 21 13 0 0 0.000586117 0 0 ZNF479 90827 broad.mit.edu 37 7 57188644 57188644 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:57188644G>A ENST00000331162.4 - 5 748 c.478C>T c.(478-480)Cat>Tat p.H160Y NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) ACATATTTATGAGTCTGAAAT 0.303000 36 43 0 0 0.00111076 0 0 CDH24 64403 broad.mit.edu 37 14 23518846 23518846 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:23518846C>T ENST00000397359.3 - 11 1960 c.1701G>A c.(1699-1701)caG>caA p.Q567Q CDH24_ENST00000554034.1_Silent_p.Q529Q|CDH24_ENST00000267383.5_Silent_p.Q567Q|CDH24_ENST00000487137.2_Silent_p.Q529Q|CDH24_ENST00000485922.1_5'UTR NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 567 Cadherin 5. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) CTCGGTTGTCCTGGACAGTAA 0.592000 14 19 0 0 0.00121646 0 0 WNT7B 7477 broad.mit.edu 37 22 46327142 46327142 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr22:46327142C>T ENST00000339464.4 - 3 780 c.406G>A c.(406-408)Gag>Aag p.E136K WNT7B_ENST00000410089.1_Missense_Mutation_p.E120K|WNT7B_ENST00000409496.3_Missense_Mutation_p.E140K|WNT7B_ENST00000410058.1_Missense_Mutation_p.E136K NM_058238.2 NP_478679.1 P56706 WNT7B_HUMAN wingless-type MMTV integration site family, member 7B 136 activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 19 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247) CCCTGCTTCTCGCGGTCGCAG 0.682000 38 12 0 0 0.000374591 0 0 CPED1 79974 broad.mit.edu 37 7 120911459 120911459 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:120911459G>A ENST00000310396.5 + 22 3310 c.2843G>A c.(2842-2844)gGg>gAg p.G948E NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 TTTCTACAGGGGAAGTGTGGA 0.323000 89 72 0 0 0.000781405 0 0 AK8 158067 broad.mit.edu 37 9 135750555 135750555 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:135750555G>A ENST00000298545.3 - 2 637 c.116C>T c.(115-117)cCc>cTc p.P39L AK8_ENST00000477396.1_5'UTR NM_152572.2 NP_689785.1 Q96MA6 KAD8_HUMAN adenylate kinase 8 39 cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2) 23 GGGATCTTCGGGCTGGTGGAT 0.577000 10 17 0 0 0.000978159 0 0 ABI3BP 25890 broad.mit.edu 37 3 100645200 100645200 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:100645200G>A ENST00000471714.1 - 2 335 c.226C>T c.(226-228)Cca>Tca p.P76S ABI3BP_ENST00000495063.1_Missense_Mutation_p.P76S|ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000284322.5_Missense_Mutation_p.P76S Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 76 extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 TACTGGTTTGGTGATACATTG 0.468000 18 45 0 0 0.000958276 0 0 SPEG 10290 broad.mit.edu 37 2 220348848 220348848 + Missense_Mutation SNP A A C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:220348848A>C ENST00000312358.7 + 30 6795 c.6663A>C c.(6661-6663)gaA>gaC p.E2221D AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2221 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCAGGCCAGAACCAGTCCGAG 0.642000 12 19 0 0 0.000151284 0 0 CMKLR1 1240 broad.mit.edu 37 12 108685854 108685854 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:108685854G>A ENST00000397688.2 - 3 1249 c.880C>T c.(880-882)Ctg>Ttg p.L294L CMKLR1_ENST00000550402.1_Silent_p.L296L|CMKLR1_ENST00000412676.1_Silent_p.L296L|CMKLR1_ENST00000312143.7_Silent_p.L296L|CMKLR1_ENST00000552995.1_Silent_p.L294L NM_004072.2 NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 296 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 GGCAAACCCAGGCTGAAGACA 0.542000 16 28 0 0 0.000422831 0 0 MROH2B 133558 broad.mit.edu 37 5 41065470 41065470 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:41065470G>A ENST00000399564.4 - 4 774 c.324C>T c.(322-324)ttC>ttT p.F108F NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B p.F108F(1) CAAGCACAACGAATTCATCTG 0.418000 11 24 0 0 0.000673444 0 0 LAMTOR5 10542 broad.mit.edu 37 1 110950356 110950356 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:110950356G>A ENST00000256644.4 - 1 208 c.133C>T c.(133-135)Cct>Tct p.P45S LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA NM_006402.2 NP_006393.2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 GCCTCCAAAGGGACAAAATTG 0.627000 8 27 0 0 0.000673444 0 0 BICD1 636 broad.mit.edu 37 12 32481244 32481244 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:32481244C>T ENST00000548411.1 + 5 2036 c.1855C>T c.(1855-1857)Cgc>Tgc p.R619C BICD1_ENST00000281474.5_Missense_Mutation_p.R619C NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 619 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) AAGTGACATCCGCAAAGAGCC 0.483000 54 77 0 0 0.000781405 0 0 DNAH3 55567 broad.mit.edu 37 16 20952789 20952789 + Nonsense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:20952789A>T ENST00000261383.3 - 59 11587 c.11588T>A c.(11587-11589)tTg>tAg p.L3863* DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3863 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) CACGGGGTACAACTTCATGAC 0.488000 71 95 0 0 0.000781405 0 0 TRPS1 7227 broad.mit.edu 37 8 116616459 116616459 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:116616459G>A ENST00000395715.3 - 4 2314 c.1737C>T c.(1735-1737)ttC>ttT p.F579F TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Silent_p.F570F|TRPS1_ENST00000519674.1_Silent_p.F566F|TRPS1_ENST00000220888.5_Silent_p.F566F NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 566 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CTCTGGGACAGAATGGACAGT 0.443000 Langer-Giedion syndrome 19 25 0 0 0.000958276 0 0 PRLR 5618 broad.mit.edu 37 5 35065712 35065712 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:35065712G>A ENST00000382002.5 - 10 1774 c.1348C>T c.(1348-1350)Ctg>Ttg p.L450L PRLR_ENST00000511486.1_Silent_p.L349L|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000342362.5_Silent_p.L349L NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 450 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TCATTCAACAGAGTGGCCGGT 0.512000 39 89 0 0 0.000781405 0 0 CENPI 2491 broad.mit.edu 37 X 100387404 100387404 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:100387404C>T ENST00000372927.1 + 14 1706 c.1429C>T c.(1429-1431)Cat>Tat p.H477Y CENPI_ENST00000372926.1_Missense_Mutation_p.H477Y|CENPI_ENST00000218507.5_Missense_Mutation_p.H477Y|CENPI_ENST00000423383.1_Missense_Mutation_p.H477Y NM_006733.2 NP_006724.2 Q92674 CENPI_HUMAN centromere protein I 477 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30 TCTTTTTGACCATCTAGCGCA 0.318000 27 90 0 0 0.00127121 0 0 TACC2 10579 broad.mit.edu 37 10 123844662 123844662 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:123844662G>A ENST00000369005.1 + 4 2987 c.2647G>A c.(2647-2649)Gaa>Aaa p.E883K TACC2_ENST00000515273.1_Missense_Mutation_p.E883K|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.E883K|TACC2_ENST00000453444.2_Missense_Mutation_p.E883K|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.E883K NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 883 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GGAACCTCAGGAAGATAACAA 0.502000 15 14 0 0 0.000308642 0 0 GCSAML 148823 broad.mit.edu 37 1 247737496 247737496 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:247737496C>T ENST00000366491.2 + 7 657 c.160C>T c.(160-162)Cac>Tac p.H54Y GCSAML_ENST00000527084.1_Missense_Mutation_p.H42Y|GCSAML_ENST00000527541.1_Missense_Mutation_p.H42Y|GCSAML_ENST00000366488.4_Missense_Mutation_p.H74Y|RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000366489.1_Missense_Mutation_p.H54Y|GCSAML_ENST00000536561.1_Missense_Mutation_p.H54Y|GCSAML_ENST00000463359.1_Missense_Mutation_p.H42Y germinal center-associated, signaling and motility-like TGTCATTAATCACATCCCCCA 0.443000 32 96 0 0 0.00178596 0 0 ESPNL 339768 broad.mit.edu 37 2 239010659 239010659 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:239010659C>T ENST00000343063.3 + 2 635 c.372C>T c.(370-372)ctC>ctT p.L124L ESPNL_ENST00000409169.1_Silent_p.L124L NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 124 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) AGTGGCTGCTCCACGAGGGCC 0.692000 4 10 0 0 0.00024832 0 0 TNXB 7148 broad.mit.edu 37 6 32038104 32038104 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:32038104G>A ENST00000375244.3 - 14 5279 c.5078C>T c.(5077-5079)tCc>tTc p.S1693F TNXB_ENST00000375247.2_Missense_Mutation_p.S1693F P22105 TENX_HUMAN tenascin XB 1775 Fibronectin type-III 9. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 AACCGTCCAGGAGAGGCGCAG 0.657000 58 113 0 0 0.000781405 0 0 CPEB2 132864 broad.mit.edu 37 4 15005680 15005680 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:15005680C>T ENST00000538197.1 + 1 1383 c.1383C>T c.(1381-1383)ttC>ttT p.F461F CPEB2_ENST00000345451.3_Silent_p.F24F|CPEB2_ENST00000382395.3_Silent_p.F24F|CPEB2_ENST00000259997.5_Silent_p.F24F|CPEB2_ENST00000541112.1_Silent_p.F461F|CPEB2_ENST00000507071.1_Silent_p.F24F|CPEB2_ENST00000442003.2_Silent_p.F461F|CPEB2_ENST00000382401.3_Silent_p.F24F NM_001177382.1 NP_001170853.1 Q7Z5Q1 CPEB2_HUMAN cytoplasmic polyadenylation element binding protein 2 24 RRM 2. regulation of translation cytoplasm nucleotide binding|RNA binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3) 14 ACCCGGCCTTCTTCCCTAGCT 0.741000 11 22 0 0 0.00136819 0 0 NT5E 4907 broad.mit.edu 37 6 86197192 86197192 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:86197192G>A ENST00000257770.3 + 5 1138 c.1089G>A c.(1087-1089)ctG>ctA p.L363L NT5E_ENST00000369651.3_Silent_p.L363L NM_002526.3 NP_002517.1 P21589 5NTD_HUMAN 5'-nucleotidase, ecto (CD73) 363 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) TGGGCAACCTGATTTGTGATG 0.443000 57 88 0 0 0.000781405 0 0 GABRA5 2558 broad.mit.edu 37 15 27159995 27159995 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:27159995G>A ENST00000335625.5 + 7 1431 c.543G>A c.(541-543)ccG>ccA p.P181P GABRA5_ENST00000557449.1_3'UTR|GABRA5_ENST00000355395.5_Silent_p.P181P|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Silent_p.P181P NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 181 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGGACTTCCCGATGGATGCGC 0.443000 13 31 0 0 0.000422831 0 0 TRMT13 54482 broad.mit.edu 37 1 100613780 100613780 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:100613780C>T ENST00000370141.2 + 10 1154 c.1148C>T c.(1147-1149)tCa>tTa p.S383L NM_019083.2 NP_061956.2 tRNA methyltransferase 13 homolog (S. cerevisiae) TTGGAAACCTCAAATAGTACC 0.433000 33 43 0 0 0.000491102 0 0 EYA4 2070 broad.mit.edu 37 6 133834096 133834096 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:133834096G>A ENST00000367895.5 + 16 1885 c.1421G>A c.(1420-1422)gGg>gAg p.G474E EYA4_ENST00000525849.1_Missense_Mutation_p.G451E|EYA4_ENST00000430974.2_Missense_Mutation_p.G426E|EYA4_ENST00000452339.2_Missense_Mutation_p.G420E|EYA4_ENST00000431403.2_Missense_Mutation_p.G474E|EYA4_ENST00000531901.1_Missense_Mutation_p.G480E|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000355167.3_Missense_Mutation_p.G474E|EYA4_ENST00000355286.6_Missense_Mutation_p.G451E NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 474 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) GTAAGAGGAGGGGTTGACTGG 0.413000 20 31 0 0 0.00152264 0 0 CACNA1F 778 broad.mit.edu 37 X 49081431 49081431 + Silent SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:49081431A>G ENST00000376265.2 - 14 1763 c.1702T>C c.(1702-1704)Ttg>Ctg p.L568L CACNA1F_ENST00000323022.5_Silent_p.L557L|CACNA1F_ENST00000376251.1_Silent_p.L503L NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 568 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) AGACAGAGCAACACTTTGTTG 0.537000 4 6 0 0 0.000602214 0 0 HIVEP1 3096 broad.mit.edu 37 6 12123591 12123591 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:12123591G>A ENST00000379388.2 + 4 3895 c.3563G>A c.(3562-3564)cGg>cAg p.R1188Q NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1188 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CACCCTTCTCGGGACGGGTCT 0.507000 18 27 0 0 0.00152264 0 0 RBAK 57786 broad.mit.edu 37 7 5103441 5103441 + Silent SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:5103441T>C ENST00000396912.1 + 5 873 c.354T>C c.(352-354)ttT>ttC p.F118F RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Silent_p.F118F|RBAK_ENST00000407184.1_Intron NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 118 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) AGAATACATTTAGTCAAATTT 0.343000 35 40 0 0 0.000953801 0 0 COL4A3 1285 broad.mit.edu 37 2 228104886 228104886 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:228104886G>A ENST00000396578.3 + 3 334 c.172G>A c.(172-174)Ggt>Agt p.G58S AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 58 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) TGGACCCCCCGGTTCTCCTGG 0.522000 6 13 0 0 0.000274275 0 0 AVEN 57099 broad.mit.edu 37 15 34295320 34295320 + Nonsense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:34295320G>A ENST00000306730.3 - 2 487 c.358C>T c.(358-360)Cga>Tga p.R120* CHRM5_ENST00000383263.5_Intron NM_020371.2 NP_065104.1 Q9NQS1 AVEN_HUMAN apoptosis, caspase activation inhibitor 120 anti-apoptosis|apoptosis endomembrane system|intracellular|membrane|membrane fraction protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 7 all_lung(180;1.78e-08) all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359) TCTTGATATCGATCCCAGTTA 0.403000 27 46 0 0 0.000720815 0 0 TMC3 342125 broad.mit.edu 37 15 81650587 81650587 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:81650587C>T ENST00000558726.1 - 7 781 c.646G>A c.(646-648)Gag>Aag p.E216K RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.E216K|RP11-761I4.3_ENST00000559781.1_RNA Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 216 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 ATCTTCCTCTCCCTGCCGTAA 0.493000 31 47 0 0 0.000953801 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209499 140209499 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:140209499C>T ENST00000529310.1 + 1 1937 c.1823C>T c.(1822-1824)tCg>tTg p.S608L PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 p.S608L(2) NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGTGGCTTTCGTATGAGCTG 0.662000 10 30 0 0 0.000442599 0 0 IRAK1 3654 broad.mit.edu 37 X 153278809 153278809 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:153278809G>A ENST00000369980.3 - 12 1782 c.1615C>T c.(1615-1617)Ccc>Tcc p.P539S IRAK1_ENST00000393682.1_Intron|IRAK1_ENST00000369974.2_Missense_Mutation_p.P460S|IRAK1_ENST00000393687.2_Intron|IRAK1_ENST00000429936.2_Intron|IRAK1_ENST00000477274.1_Intron NM_001025242.1|NM_001569.3 NP_001020413.1|NP_001560.2 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 539 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|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|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2) 25 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGGAAGGGGGGATGCAGCTG 0.662000 22 21 0 0 0.000295444 0 0 ANKFN1 162282 broad.mit.edu 37 17 54428267 54428267 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:54428267C>T ENST00000566473.2 + 4 338 c.338C>T c.(337-339)tCc>tTc p.S113F ANKFN1_ENST00000318698.2_Missense_Mutation_p.S113F Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 113 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 AGCCACTCTTCCTTCGATGAG 0.453000 30 42 0 0 0.001512 0 0 SEMA4C 54910 broad.mit.edu 37 2 97530946 97530946 + Missense_Mutation SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:97530946A>G ENST00000305476.5 - 7 761 c.629T>C c.(628-630)cTc>cCc p.L210P NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 210 Dominant negative effect on myogenic differentiation (By similarity).|Sema. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 CTCACCGTTGAGCCAAAAGGC 0.637000 8 13 0 0 0.000157383 0 0 MIR381HG 378881 broad.mit.edu 37 14 101512287 101512287 + RNA SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:101512287C>T ENST00000553692.1 + 0 28 MIR381_ENST00000362150.1_RNA TTTGTATATTCGGTTTATTGA 0.507000 4 12 0 0 0.000602214 0 0 HIST1H1T 3010 broad.mit.edu 37 6 26108317 26108317 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:26108317G>A ENST00000338379.4 - 1 47 c.5C>T c.(4-6)tCt>tTt p.S2F NM_005323.3 NP_005314.2 P22492 H1T_HUMAN histone cluster 1, H1t 2 cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1) 9 CACGGTTTCAGACATAACAAC 0.542000 11 26 0 0 0.00136819 0 0 NOTCH2 4853 broad.mit.edu 37 1 120469126 120469126 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:120469126G>A ENST00000256646.2 - 24 4220 c.4001C>T c.(4000-4002)cCc>cTc p.P1334L NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1334 EGF-like 34. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACTTACCGGGGGACAACGGCA 0.488000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 55 118 0 0 0.000781405 0 0 OR2B3 442184 broad.mit.edu 37 6 29054546 29054546 + Silent SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:29054546A>T ENST00000377173.2 - 1 544 c.480T>A c.(478-480)tcT>tcA p.S160S NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 GAGTCAAGGAAGACTGCAGCA 0.498000 14 30 0 0 0.000151284 0 0 LGR5 8549 broad.mit.edu 37 12 71978211 71978211 + Silent SNP G G T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:71978211G>T ENST00000266674.5 + 18 2732 c.2421G>T c.(2419-2421)gtG>gtT p.V807V LGR5_ENST00000540815.2_Silent_p.V783V|LGR5_ENST00000536515.1_Silent_p.V735V O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 807 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 TCCTTCTGGTGGTAGTCCCAC 0.433000 11 513 0.00136819 0.00762324 0.00136819 1 0 CLEC4E 26253 broad.mit.edu 37 12 8687260 8687260 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:8687260G>A ENST00000299663.3 - 6 799 c.634C>T c.(634-636)Cct>Tct p.P212S CLEC4E_ENST00000446457.2_3'UTR|CLEC4E_ENST00000545274.1_Missense_Mutation_p.P167S NM_014358.2 NP_055173.1 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 212 integral to membrane sugar binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Lung SC(5;0.184) TTGTTCAAAGGATTTATTCCT 0.418000 17 29 0 0 0.000958276 0 0 DDX4 54514 broad.mit.edu 37 5 55110939 55110939 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:55110939C>T ENST00000505374.1 + 20 2018 c.1926C>T c.(1924-1926)tcC>tcT p.S642S DDX4_ENST00000354991.5_Silent_p.S608S|DDX4_ENST00000353507.5_Silent_p.S608S|DDX4_ENST00000514278.2_Silent_p.S622S|DDX4_ENST00000511853.1_Silent_p.S493S NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 642 Helicase C-terminal. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) GAGCAATTTCCTTTTTTGATC 0.358000 52 88 0 0 0.000781405 0 0 EPB41L2 2037 broad.mit.edu 37 6 131277475 131277475 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:131277475G>A ENST00000337057.3 - 2 332 c.151C>T c.(151-153)Cct>Tct p.P51S EPB41L2_ENST00000525271.1_Missense_Mutation_p.P51S|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.P51S|EPB41L2_ENST00000530481.1_Missense_Mutation_p.P51S|EPB41L2_ENST00000528282.1_Missense_Mutation_p.P51S|EPB41L2_ENST00000368128.2_Missense_Mutation_p.P51S|EPB41L2_ENST00000445890.2_Missense_Mutation_p.P51S|EPB41L2_ENST00000527659.1_Missense_Mutation_p.P51S|EPB41L2_ENST00000392427.3_Missense_Mutation_p.P51S|EPB41L2_ENST00000529208.1_Missense_Mutation_p.P51S|EPB41L2_ENST00000525193.1_Missense_Mutation_p.P51S NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 51 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TCAGCTGCAGGAGGTGGCTGG 0.483000 39 59 0 0 0.00128727 0 0 ATP9A 10079 broad.mit.edu 37 20 50230311 50230311 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:50230311G>A ENST00000338821.5 - 23 2740 c.2476C>T c.(2476-2478)Cgg>Tgg p.R826W ATP9A_ENST00000311637.5_Missense_Mutation_p.R690W|ATP9A_ENST00000402822.1_Missense_Mutation_p.R705W NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 826 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 ATAAGCAACCGGCCAAGATGC 0.502000 75 113 0 0 0.000781405 0 0 BCS1L 617 broad.mit.edu 37 2 219525811 219525811 + Missense_Mutation SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:219525811A>G ENST00000431802.1 + 2 800 c.101A>G c.(100-102)aAg>aGg p.K34R BCS1L_ENST00000392110.2_Missense_Mutation_p.K34R|BCS1L_ENST00000412366.1_Missense_Mutation_p.K34R|BCS1L_ENST00000439945.1_Missense_Mutation_p.K34R|BCS1L_ENST00000392109.1_Missense_Mutation_p.K34R|BCS1L_ENST00000392111.2_Missense_Mutation_p.K34R|BCS1L_ENST00000359273.3_Missense_Mutation_p.K34R Q9Y276 BCS1_HUMAN BC1 (ubiquinol-cytochrome c reductase) synthesis-like 34 mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly integral to membrane|mitochondrial respiratory chain complex III ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 8 Renal(207;0.0474) Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGGCCCGGAAGGGTGTCCAA 0.582000 26 59 0 0 0.00106085 0 0 RPTN 126638 broad.mit.edu 37 1 152129412 152129412 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:152129412C>T ENST00000316073.3 - 3 227 c.163G>A c.(163-165)Gaa>Aaa p.E55K NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 55 EF-hand 2.|S-100-like (By similarity). proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 AAGATGGTTTCCACAGTCTCT 0.418000 16 57 0 0 0.000958276 0 0 NLGN1 22871 broad.mit.edu 37 3 173998905 173998905 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:173998905T>A ENST00000457714.1 + 7 2713 c.2284T>A c.(2284-2286)Tac>Aac p.Y762N NLGN1_ENST00000545397.1_Missense_Mutation_p.Y762N|NLGN1_ENST00000401917.3_Missense_Mutation_p.Y802N|NLGN1_ENST00000361589.4_Missense_Mutation_p.Y762N NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 779 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TCCCCCAGATTACACACTAGC 0.468000 17 37 0 0 0.000958276 0 0 PTPRF 5792 broad.mit.edu 37 1 44083416 44083416 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:44083416G>A ENST00000359947.4 + 25 4545 c.4205G>A c.(4204-4206)gGg>gAg p.G1402E PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.G761E|PTPRF_ENST00000438120.1_Missense_Mutation_p.G1393E|PTPRF_ENST00000372413.3_Missense_Mutation_p.G1393E|PTPRF_ENST00000372414.3_Missense_Mutation_p.G1402E NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1402 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGCGTCCCCGGGAGTGACTAC 0.592000 10 20 0 0 0.000673444 0 0 CACNA1A 773 broad.mit.edu 37 19 13423587 13423587 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:13423587C>T ENST00000360228.5 - 12 1563 c.1564G>A c.(1564-1566)Gaa>Aaa p.E522K CACNA1A_ENST00000573710.2_Missense_Mutation_p.E523K NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 523 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) AAAATGAATTCTGCATAGTCT 0.438000 9 37 0 0 0.000274275 0 0 STAG2 10735 broad.mit.edu 37 X 123195717 123195717 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:123195717G>A ENST00000371160.1 + 17 1921 c.1631G>A c.(1630-1632)gGa>gAa p.G544E STAG2_ENST00000371145.3_Missense_Mutation_p.G544E|STAG2_ENST00000371144.3_Missense_Mutation_p.G544E|STAG2_ENST00000218089.9_Missense_Mutation_p.G544E|STAG2_ENST00000354548.5_Missense_Mutation_p.G475E|STAG2_ENST00000371157.3_Missense_Mutation_p.G544E|STAG2_ENST00000469481.1_Intron Q8N3U4 STAG2_HUMAN stromal antigen 2 544 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 AGAGGGACAGGAAAAAGGGTA 0.368000 32 60 0 0 0.000409698 0 0 TSC22D3 1831 broad.mit.edu 37 X 106957890 106957890 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:106957890G>A ENST00000372383.4 - 3 829 c.462C>T c.(460-462)tcC>tcT p.S154S TSC22D3_ENST00000372397.2_Silent_p.S88S|TSC22D3_ENST00000506081.1_Silent_p.S154S|TSC22D3_ENST00000514426.1_Silent_p.S86S|TSC22D3_ENST00000372382.4_Silent_p.S64S|TSC22D3_ENST00000372390.4_Silent_p.S31S|TSC22D3_ENST00000372384.2_Silent_p.S154S|TSC22D3_ENST00000315660.4_Silent_p.S154S NM_198057.2 NP_932174.1 Q99576 T22D3_HUMAN TSC22 domain family, member 3 88 sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2)|lung(3) 6 GCTCTAGCTGGGAGTTCTTCT 0.547000 58 113 0 0 0.000781405 0 0 PRSS1 5644 broad.mit.edu 37 7 142459672 142459672 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:142459672G>A ENST00000486171.1 + 4 307 c.290G>A c.(289-291)gGg>gAg p.G97E PRSS1_ENST00000311737.7_Missense_Mutation_p.G83E P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 83 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GTCCTGGAGGGGAATGAGCAG 0.542000 50 166 0 0 0.000781405 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597503 136597503 + Missense_Mutation SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:136597503T>C ENST00000531224.1 - 5 1412 c.1160A>G c.(1159-1161)aAa>aGa p.K387R BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Missense_Mutation_p.K385R|BCLAF1_ENST00000392348.2_Missense_Mutation_p.K385R|BCLAF1_ENST00000527536.1_Missense_Mutation_p.K387R|BCLAF1_ENST00000353331.4_Missense_Mutation_p.K385R NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 387 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCCAGACTCTTTATCACTGAA 0.438000 49 237 0 0 0.000781405 0 0 GAB3 139716 broad.mit.edu 37 X 153908454 153908454 + Nonsense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:153908454A>T ENST00000369575.3 - 9 1630 c.1599T>A c.(1597-1599)taT>taA p.Y533* GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Nonsense_Mutation_p.Y534* NM_001081573.1|NM_080612.2 NP_001075042.1|NP_542179.1 Q8WWW8 GAB3_HUMAN GRB2-associated binding protein 3 533 NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CCAGGGCCAAATAATCTAGGC 0.512000 72 139 0 0 0.000781405 0 0 CFHR2 3080 broad.mit.edu 37 1 196928157 196928157 + Nonsense_Mutation SNP C C T rs41313888 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:196928157C>T ENST00000367415.4 + 5 874 c.760C>T c.(760-762)Cga>Tga p.R254* CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Nonsense_Mutation_p.R254* NM_005666.2 NP_005657.1 P36980 FHR2_HUMAN complement factor H-related 2 254 Sushi 4. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 TCATTCATTTCGAGCAATGTG 0.323000 26 56 0 0 0.000878237 0 0 PRICKLE3 4007 broad.mit.edu 37 X 49034474 49034474 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:49034474G>A ENST00000376317.3 - 7 917 c.823C>T c.(823-825)Cac>Tac p.H275Y PRICKLE3_ENST00000540849.1_Missense_Mutation_p.H207Y|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.H194Y|PRICKLE3_ENST00000538114.1_Intron NM_006150.3 NP_006141.2 O43900 PRIC3_HUMAN prickle homolog 3 (Drosophila) 275 LIM zinc-binding 2. protein binding|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2) 22 CAGCAGAAGTGATCCATGTGC 0.632000 6 14 0 0 0.00116845 0 0 SMYD1 150572 broad.mit.edu 37 2 88393054 88393054 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:88393054C>T ENST00000419482.2 + 5 763 c.678C>T c.(676-678)tcC>tcT p.S226S SMYD1_ENST00000444564.2_Intron|SMYD1_ENST00000438570.1_Intron NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 226 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 CAGTGAAATCCATGTTTCATA 0.493000 20 60 0 0 0.000229342 0 0 TPSAB1 7177 broad.mit.edu 37 16 1291284 1291284 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:1291284C>T ENST00000461509.2 + 2 407 c.213C>T c.(211-213)atC>atT p.I71I TPSAB1_ENST00000338844.3_Silent_p.I64I P20231 TRYB2_HUMAN tryptase alpha/beta 1 64 Peptidase S1. proteolysis extracellular region protein binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1) 10 Hepatocellular(780;0.00369) GCTCCCTCATCCACCCCCAGT 0.701000 12 31 0 0 0.000219431 0 0 CD209 30835 broad.mit.edu 37 19 7810954 7810954 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:7810954G>A ENST00000315599.7 - 4 220 c.198C>T c.(196-198)tcC>tcT p.S66S CD209_ENST00000315591.8_Silent_p.S42S|CD209_ENST00000601951.1_Silent_p.S42S|CD209_ENST00000394173.4_Silent_p.S66S|CD209_ENST00000301357.8_Silent_p.S22S|CD209_ENST00000593821.1_Silent_p.S22S|CD209_ENST00000204801.8_Silent_p.S22S|CD209_ENST00000593660.1_Silent_p.S42S|CD209_ENST00000394161.5_Silent_p.S66S|CD209_ENST00000601256.1_Silent_p.S42S|CD209_ENST00000354397.6_Silent_p.S66S|CD209_ENST00000602261.1_Silent_p.S66S NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 66 cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCTGACTTATGGAGCTGGGGA 0.502000 39 92 0 0 0.000509022 0 0 CEP128 145508 broad.mit.edu 37 14 81371267 81371267 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:81371267G>A ENST00000555265.1 - 6 745 c.370C>T c.(370-372)Cat>Tat p.H124Y CEP128_ENST00000327841.2_Missense_Mutation_p.H64Y|CEP128_ENST00000216517.6_Missense_Mutation_p.H124Y|CEP128_ENST00000281129.3_Missense_Mutation_p.H124Y Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 124 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 GGTGGAAAATGATGGAGCTCT 0.408000 33 49 0 0 0.000692331 0 0 TP63 8626 broad.mit.edu 37 3 189612028 189612028 + Nonsense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:189612028C>T ENST00000264731.3 + 14 1869 c.1780C>T c.(1780-1782)Cga>Tga p.R594* TP63_ENST00000440651.2_Nonsense_Mutation_p.R590*|TP63_ENST00000449992.1_Nonsense_Mutation_p.R415*|TP63_ENST00000382063.4_Nonsense_Mutation_p.R509*|TP63_ENST00000456148.1_Nonsense_Mutation_p.R496*|TP63_ENST00000354600.5_Nonsense_Mutation_p.R500*|TP63_ENST00000320472.5_3'UTR NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 594 SAM. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R594*(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TGAGCAATTTCGACATGCGAT 0.532000 HNSCC(45;0.13) 26 37 0 0 0.00127121 0 0 DBX2 440097 broad.mit.edu 37 12 45429804 45429804 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:45429804G>A ENST00000332700.6 - 2 668 c.497C>T c.(496-498)cCa>cTa p.P166L NM_001004329.2 NP_001004329.2 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 166 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) aaacttacttggaaaagcagt 0.493000 9 18 0 0 0.000978159 0 0 SNORD114-1 767577 broad.mit.edu 37 14 101416231 101416231 + RNA SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:101416231C>T ENST00000362705.1 + 0 62 NR_003193.1 GTCTGGAAGTCTGAGGTCCAA 0.388000 10 18 0 0 0.000673444 0 0 ARGFX 503582 broad.mit.edu 37 3 121304901 121304901 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:121304901G>A ENST00000334384.3 + 4 412 c.402G>A c.(400-402)aaG>aaA p.K134K NM_001012659.1 NP_001012677.1 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 134 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.K134N(1) kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) TCAAATTGAAGAAGCAGCAGC 0.517000 14 31 0 0 0.000566183 0 0 OR10H2 26538 broad.mit.edu 37 19 15839424 15839424 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:15839424A>T ENST00000305899.3 + 1 591 c.571A>T c.(571-573)Aat>Tat p.N191Y NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) GGCCTGTGGAAATAATGTACC 0.517000 31 52 0 0 0.000491102 0 0 SUMO1 7341 broad.mit.edu 37 2 203075522 203075522 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:203075522G>A ENST00000392246.2 - 4 329 c.173C>T c.(172-174)cCa>cTa p.P58L SUMO1_ENST00000409205.1_Missense_Mutation_p.P19L|SUMO1_ENST00000409181.1_Intron|SUMO1_ENST00000392244.3_Missense_Mutation_p.P33L|SUMO1_ENST00000409712.1_Intron|SUMO1_ENST00000409368.1_Missense_Mutation_p.P58L|SUMO1_ENST00000392245.1_Missense_Mutation_p.P58L|SUMO1_ENST00000469034.1_5'UTR|SUMO1_ENST00000409498.2_Missense_Mutation_p.P19L NM_003352.4 NP_003343.1 P63165 SUMO1_HUMAN small ubiquitin-like modifier 1 58 Ubiquitin-like. DNA repair|interferon-gamma-mediated signaling pathway|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|palate development|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein complex assembly|protein sumoylation|regulation of interferon-gamma-mediated signaling pathway|regulation of protein localization cytoplasm|nuclear membrane|nuclear pore|nuclear speck ubiquitin protein ligase binding TGAATTCATTGGAACACCCTA 0.318000 20 42 0 0 0.00152264 0 0 GFRAL 389400 broad.mit.edu 37 6 55223744 55223744 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:55223744G>A ENST00000340465.2 + 6 846 c.760G>A c.(760-762)Gaa>Aaa p.E254K NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 254 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AAAGTGCCATGAAGATGAGAA 0.408000 25 70 0 0 0.00106085 0 0 ALPP 250 broad.mit.edu 37 2 233244608 233244608 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:233244608G>A ENST00000392027.2 + 5 888 c.619G>A c.(619-621)Gac>Aac p.D207N AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 207 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GGGGTGCCAGGACATCGCTAC 0.682000 13 39 0 0 0.000151284 0 0 P2RY14 9934 broad.mit.edu 37 3 150931715 150931715 + Silent SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:150931715A>T ENST00000309170.3 - 3 702 c.390T>A c.(388-390)tcT>tcA p.S130S MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Silent_p.S130S NM_001081455.1|NM_014879.3 NP_001074924.1|NP_055694.3 Q15391 P2Y14_HUMAN purinergic receptor P2Y, G-protein coupled, 14 130 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1) 20 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ACTGGATGAAAGAAGTCCAAA 0.423000 7 41 0 0 0.000157383 0 0 LYPD1 116372 broad.mit.edu 37 2 133403686 133403686 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:133403686C>T ENST00000397463.2 - 3 630 c.358G>A c.(358-360)Gcc>Acc p.A120T LYPD1_ENST00000345008.6_Missense_Mutation_p.A68T|GPR39_ENST00000470071.1_3'UTR|GPR39_ENST00000329321.3_3'UTR NM_144586.5 NP_653187.3 Q8N2G4 LYPD1_HUMAN LY6/PLAUR domain containing 1 120 anchored to membrane|plasma membrane lung(2) 2 GGCCTGAGGGCCGAGGCAGAA 0.577000 12 37 0 0 0.000219431 0 0 MAST3 23031 broad.mit.edu 37 19 18233516 18233516 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:18233516C>T ENST00000262811.5 + 5 267 c.267C>T c.(265-267)ctC>ctT p.L89L NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 89 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 TCGCGTCTCTCCCATCTTCCG 0.607000 4 7 0 0 0.000602214 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123215998 123215998 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:123215998G>A ENST00000349780.4 - 21 2708 c.2529C>T c.(2527-2529)tcC>tcT p.S843S CDK5RAP2_ENST00000359309.3_Silent_p.S843S|CDK5RAP2_ENST00000360190.4_Silent_p.S843S|CDK5RAP2_ENST00000360822.3_Silent_p.S811S NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 843 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 CATGTGGCTTGGAAAATGAGT 0.463000 39 29 0 0 0.000437636 0 0 GABRG2 2566 broad.mit.edu 37 5 161569269 161569269 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:161569269C>T ENST00000356592.3 + 7 1329 c.869C>T c.(868-870)tCc>tTc p.S290F GABRG2_ENST00000393933.4_Missense_Mutation_p.S195F|GABRG2_ENST00000361925.4_Missense_Mutation_p.S290F|GABRG2_ENST00000414552.2_Missense_Mutation_p.S330F NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 290 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GTCGTCCTATCCTGGGTGTCT 0.428000 31 38 0 0 0.001512 0 0 MYOT 9499 broad.mit.edu 37 5 137223019 137223019 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:137223019G>A ENST00000239926.4 + 10 1816 c.1442G>A c.(1441-1443)gGa>gAa p.G481E RP11-381K20.2_ENST00000508281.2_RNA|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.G297E|MYOT_ENST00000515645.1_Missense_Mutation_p.G366E NM_006790.2 NP_006781.1 Q9UBF9 MYOTI_HUMAN myotilin 481 Necessary for interaction with ACTA1.|Necessary for interaction with FLNC. muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AACCCAGAAGGAGAATTTCAG 0.383000 27 36 0 0 0.000720815 0 0 CYP2E1 1571 broad.mit.edu 37 10 135350654 135350654 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:135350654C>T ENST00000463117.2 + 9 1327 c.1055C>T c.(1054-1056)gCt>gTt p.A352V SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.A352V P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, polypeptide 1 352 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) TACATGGATGCTGTGGTGCAT 0.527000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 19 24 0 0 0.000958276 0 0 SLC25A31 83447 broad.mit.edu 37 4 128685492 128685492 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:128685492G>A ENST00000281154.4 + 3 623 c.455G>A c.(454-456)cGa>cAa p.R152Q NM_031291.2 NP_112581.1 Q9H0C2 ADT4_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 152 transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2) 22 GCCCGAACCCGATTAGGTGTC 0.398000 34 24 0 0 0.000491102 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220340852 220340852 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:220340852G>A ENST00000358951.2 - 25 3088 c.2972C>T c.(2971-2973)gCc>gTc p.A991V NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 991 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) ACCTGGTATGGCTCCTAAGTC 0.383000 47 113 0 0 0.000781405 0 0 FMNL2 114793 broad.mit.edu 37 2 153475610 153475610 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:153475610C>T ENST00000288670.9 + 14 1932 c.1565C>T c.(1564-1566)tCc>tTc p.S522F NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 522 actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 GGGGCCGCTTCCTCAGGACCC 0.572000 10 19 0 0 0.000673444 0 0 POM121 9883 broad.mit.edu 37 7 72413513 72413513 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:72413513C>T ENST00000395270.1 + 14 3227 c.2186C>T c.(2185-2187)tCt>tTt p.S729F POM121_ENST00000358357.3_Missense_Mutation_p.S729F|POM121_ENST00000257622.4_Missense_Mutation_p.S729F|POM121_ENST00000446813.1_Missense_Mutation_p.S729F|POM121_ENST00000434423.2_Missense_Mutation_p.S994F NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 994 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) TTTGGCAGCTCTTTCACTTTT 0.657000 25 99 0 0 0.00106085 0 0 PLG 5340 broad.mit.edu 37 6 161139332 161139332 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:161139332C>T ENST00000308192.9 + 8 857 c.794C>T c.(793-795)cCt>cTt p.P265L NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 265 extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CAAGCAACACCTCCACCATCT 0.502000 29 52 0 0 0.00178596 0 0 APPBP2 10513 broad.mit.edu 37 17 58524995 58524995 + Nonsense_Mutation SNP C C A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:58524995C>A ENST00000083182.3 - 13 1992 c.1705G>T c.(1705-1707)Gaa>Taa p.E569* NM_006380.2 NP_006371.2 Q92624 APBP2_HUMAN amyloid beta precursor protein (cytoplasmic tail) binding protein 2 569 intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1) 25 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) TGCACCACTTCTTCAGTGGAC 0.498000 58 94 1.31726e-23 7.49142e-23 0.000781405 1 0 PCLO 27445 broad.mit.edu 37 7 82585451 82585451 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:82585451C>T ENST00000423517.2 - 5 5155 c.4818G>A c.(4816-4818)ggG>ggA p.G1606G PCLO_ENST00000333891.8_Silent_p.G1606G NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1537 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTCTGTGTTTCCCTGCTGTTA 0.418000 87 259 0 0 0.000781405 0 0 KMT2A 4297 broad.mit.edu 37 11 118373178 118373178 + Nonsense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:118373178C>T ENST00000534358.1 + 27 6594 c.6571C>T c.(6571-6573)Cga>Tga p.R2191* KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R2150*|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R2188* NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CTCTGGACTTCGAAGCATTGG 0.448000 18 15 0 0 0.00121646 0 0 TLR9 54106 broad.mit.edu 37 3 52255454 52255454 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:52255454C>T ENST00000597542.1 - 9 3907 c.2950G>A c.(2950-2952)Gag>Aag p.E984K TLR9_ENST00000360658.2_Missense_Mutation_p.E960K|TLR9_ENST00000494383.1_Missense_Mutation_p.G1113E Q9NR96 TLR9_HUMAN toll-like receptor 9 960 TIR. defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) TTGCGGTCCTCCAGCAGGCGC 0.692000 13 20 0 0 0.00136819 0 0 NLRP12 91662 broad.mit.edu 37 19 54313043 54313043 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:54313043C>T ENST00000324134.6 - 3 2038 c.1870G>A c.(1870-1872)Gag>Aag p.E624K NLRP12_ENST00000345770.5_Missense_Mutation_p.E624K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E624K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E624K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E624K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E624K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E624K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E624K NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 624 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TGGATAAACTCCTCCTCCTGG 0.567000 22 42 0 0 0.000295444 0 0 GRIP2 80852 broad.mit.edu 37 3 14547163 14547163 + RNA SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:14547163G>A ENST00000273083.3 - 0 2597 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 TCCTCCTCTGGAAAGCTCTCG 0.677000 3 0 0 0 0.00024832 0 0 TMEM63B 55362 broad.mit.edu 37 6 44120422 44120422 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:44120422C>T ENST00000259746.9 + 20 2112 c.1929C>T c.(1927-1929)atC>atT p.I643I TMEM63B_ENST00000323267.6_Silent_p.I643I Q5T3F8 TM63B_HUMAN transmembrane protein 63B 643 integral to membrane nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) CCTGCCCCATCATCGTGCCCT 0.647000 OREG0017465 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 21 0 0 0.00121646 0 0 WDFY3 23001 broad.mit.edu 37 4 85731479 85731479 + Nonsense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:85731479G>A ENST00000322366.6 - 14 2313 c.1906C>T c.(1906-1908)Cga>Tga p.R636* WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000295888.4_Nonsense_Mutation_p.R636* Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 636 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TGGCTTTCTCGAAGGACCGAC 0.383000 13 9 0 0 0.000151284 0 0 FBXO43 286151 broad.mit.edu 37 8 101146071 101146071 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:101146071G>A ENST00000428847.2 - 5 2402 c.2086C>T c.(2086-2088)Cca>Tca p.P696S NM_001029860.3 NP_001025031.2 Q4G163 FBX43_HUMAN F-box protein 43 696 meiosis zinc ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) GCACTTCCTGGGAGAGCATCT 0.403000 41 43 0 0 0.00148497 0 0 CATSPER2 117155 broad.mit.edu 37 15 43940225 43940225 + Missense_Mutation SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:43940225A>G ENST00000396879.1 - 3 147 c.35T>C c.(34-36)cTt>cCt p.L12P STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000464721.1_Intron|CATSPER2_ENST00000355438.2_Missense_Mutation_p.L12P|CATSPER2_ENST00000354127.4_Missense_Mutation_p.L12P|CATSPER2_ENST00000321596.5_Missense_Mutation_p.L12P|CATSPER2_ENST00000381761.1_Missense_Mutation_p.L18P Q96P56 CTSR2_HUMAN cation channel, sperm associated 2 12 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) AGCTCGGGGAAGCTGCATCTG 0.488000 109 217 0 0 0.000781405 0 0 ANO2 57101 broad.mit.edu 37 12 5915239 5915239 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:5915239C>T ENST00000327087.8 - 9 1028 c.957G>A c.(955-957)gaG>gaA p.E319E ANO2_ENST00000546188.1_Silent_p.E320E|ANO2_ENST00000356134.5_Silent_p.E320E Q9NQ90 ANO2_HUMAN anoctamin 2 324 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 TCATATCGTCCTCTGGACTAT 0.473000 18 31 0 0 0.000229342 0 0 OR5P2 120065 broad.mit.edu 37 11 7818388 7818388 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:7818388G>A ENST00000329434.2 - 1 132 c.102C>T c.(100-102)atC>atT p.I34I RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TACCAGATAGGATGATCATGA 0.433000 22 7 0 0 0.000229342 0 0 CDH6 1004 broad.mit.edu 37 5 31305377 31305377 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:31305377G>A ENST00000265071.2 + 7 1361 c.1096G>A c.(1096-1098)Gat>Aat p.D366N CDH6_ENST00000514738.1_Missense_Mutation_p.D311N NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 366 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GCCTTTCAAAGATTCAGCCAC 0.428000 26 36 0 0 0.000720815 0 0 HAO1 54363 broad.mit.edu 37 20 7866479 7866479 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:7866479C>T ENST00000378789.3 - 6 897 c.846G>A c.(844-846)gtG>gtA p.V282V NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 282 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CCTTCCCTTCCACAGCCTCCA 0.483000 41 64 0 0 0.000589545 0 0 SLC9C1 285335 broad.mit.edu 37 3 111927084 111927084 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:111927084C>T ENST00000305815.5 - 16 2179 c.1927G>A c.(1927-1929)Gaa>Aaa p.E643K SLC9C1_ENST00000487372.1_Missense_Mutation_p.E595K NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 643 Ion transport-like. cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity TGTTTTAATTCGCTGTGGTAG 0.303000 81 116 0 0 0.000781405 0 0 LAMA2 3908 broad.mit.edu 37 6 129635813 129635813 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:129635813G>A ENST00000421865.2 + 24 3474 c.3425G>A c.(3424-3426)gGc>gAc p.G1142D NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1142 Laminin EGF-like 13. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AATGTGGAAGGCATCCACTGT 0.512000 12 28 0 0 0.000151284 0 0 TEP1 7011 broad.mit.edu 37 14 20856088 20856088 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:20856088G>A ENST00000262715.5 - 18 2700 c.2660C>T c.(2659-2661)cCc>cTc p.P887L TEP1_ENST00000556935.1_Missense_Mutation_p.P779L NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 887 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AGGAGCCAAGGGGCTTGGAGT 0.532000 23 48 0 0 0.000878237 0 0 KIF21A 55605 broad.mit.edu 37 12 39731002 39731002 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:39731002G>A ENST00000395670.3 - 17 2733 c.2314C>T c.(2314-2316)Cgc>Tgc p.R772C KIF21A_ENST00000541463.2_Missense_Mutation_p.R759C|KIF21A_ENST00000361418.5_Missense_Mutation_p.R772C|KIF21A_ENST00000361961.3_Missense_Mutation_p.R759C|KIF21A_ENST00000544797.2_Missense_Mutation_p.R759C Q7Z4S6 KI21A_HUMAN kinesin family member 21A 772 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TTCATTAGGCGAACCTAACCA 0.338000 20 33 0 0 0.00121646 0 0 STAB2 55576 broad.mit.edu 37 12 104092977 104092977 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:104092977T>A ENST00000388887.2 + 34 3890 c.3686T>A c.(3685-3687)tTc>tAc p.F1229Y NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1229 FAS1 4. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TTCTCCTATTTCCTTAGCTTC 0.478000 12 15 0 0 0.000151284 0 0 FAM9B 171483 broad.mit.edu 37 X 8997363 8997363 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:8997363T>A ENST00000362066.3 - 5 686 c.498A>T c.(496-498)gaA>gaT p.E166D FAM9B_ENST00000428477.1_Missense_Mutation_p.E126D|FAM9B_ENST00000327220.5_Missense_Mutation_p.E126D Q8IZU0 FAM9B_HUMAN family with sequence similarity 9, member B 126 nucleus breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1) 11 Hepatocellular(5;0.219) Gttcttcctcttctccctctt 0.383000 13 9 0 0 0.00136819 0 0 USP9X 8239 broad.mit.edu 37 X 41088904 41088904 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:41088904C>T ENST00000324545.7 + 43 7936 c.7303C>T c.(7303-7305)Cct>Tct p.P2435S USP9X_ENST00000378308.2_Missense_Mutation_p.P2435S NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 2435 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TACTGGCAATCCTCAGTACAC 0.428000 25 42 0 0 0.000586117 0 0 CDH20 28316 broad.mit.edu 37 18 59170282 59170282 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr18:59170282G>A ENST00000262717.4 + 5 1156 c.758G>A c.(757-759)gGa>gAa p.G253E CDH20_ENST00000536675.2_Missense_Mutation_p.G253E|CDH20_ENST00000538374.1_Missense_Mutation_p.G253E Q9HBT6 CAD20_HUMAN cadherin 20, type 2 253 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) CAGCTTGGAGGATTAGCTGGG 0.502000 OREG0025026 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 64 0 0 0.000720815 0 0 CAPN10 11132 broad.mit.edu 37 2 241533346 241533346 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:241533346C>T ENST00000391984.2 + 5 908 c.712C>T c.(712-714)Cat>Tat p.H238Y CAPN10_ENST00000391982.2_Missense_Mutation_p.H238Y|CAPN10_ENST00000354082.4_Missense_Mutation_p.H238Y|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.H238Y|CAPN10_ENST00000270364.7_Intron NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 238 Calpain catalytic. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) GGGGGAGTTCCATGCCTTCAT 0.657000 55 102 0 0 0.000781405 0 0 MYH1 4619 broad.mit.edu 37 17 10399579 10399579 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:10399579C>T ENST00000226207.5 - 34 5038 c.4944G>A c.(4942-4944)agG>agA p.R1648R CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1648 R -> Q (in Ref. 4; CAA27380). muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CTTGGGTGTTCCTATAGTTCC 0.498000 29 63 0 0 0.000491102 0 0 IQGAP2 10788 broad.mit.edu 37 5 75997022 75997022 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:75997022G>A ENST00000274364.6 + 34 4786 c.4489G>A c.(4489-4491)Gat>Aat p.D1497N IQGAP2_ENST00000502745.1_Missense_Mutation_p.D993N|IQGAP2_ENST00000379730.3_Missense_Mutation_p.D999N|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000396234.3_Missense_Mutation_p.D993N NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1497 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) AGATATAGATGATCTTCAAAC 0.463000 29 38 0 0 0.000692331 0 0 MXRA5 25878 broad.mit.edu 37 X 3228042 3228042 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:3228042C>T ENST00000217939.6 - 7 8356 c.8202G>A c.(8200-8202)cgG>cgA p.R2734R NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2734 Ig-like C2-type 12. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CGCTGGTGATCCGGGGAGGAT 0.597000 15 28 0 0 0.00074312 0 0 HEXB 3074 broad.mit.edu 37 5 73989524 73989524 + Nonsense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:73989524T>A ENST00000261416.7 + 3 623 c.506T>A c.(505-507)tTa>tAa p.L169* HEXB_ENST00000511181.1_5'UTR NM_000521.3 NP_000512.1 P07686 HEXB_HUMAN hexosaminidase B (beta polypeptide) 169 cell death lysosome cation binding|protein heterodimerization activity|protein homodimerization activity endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.72e-57) TGGGGAGCATTACGAGGTAAG 0.383000 29 35 0 0 0.00058488 0 0 RCOR1 23186 broad.mit.edu 37 14 103187353 103187353 + Missense_Mutation SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:103187353A>G ENST00000262241.6 + 9 1289 c.1063A>G c.(1063-1065)Att>Gtt p.I355V RCOR1_ENST00000570597.1_Missense_Mutation_p.I352V NM_015156.3 NP_055971.2 Q9UKL0 RCOR1_HUMAN REST corepressor 1 352 Interaction with KDM1A. blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 12 GATCCAGAATATTAAACAGAC 0.294000 96 115 0 0 0.000781405 0 0 KLK3 354 broad.mit.edu 37 19 51358246 51358246 + Missense_Mutation SNP T T G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:51358246T>G ENST00000360617.3 + 1 35 c.35T>G c.(34-36)gTg>gGg p.V12G KLK3_ENST00000597483.1_Missense_Mutation_p.V12G|KLK3_ENST00000326003.2_Missense_Mutation_p.V12G|KLK3_ENST00000593997.1_Missense_Mutation_p.V12G|KLK3_ENST00000595952.1_Missense_Mutation_p.V12G P07288 KLK3_HUMAN kallikrein-related peptidase 3 12 negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) ACCCTGTCCGTGACGTGGATT 0.647000 10 26 0 0 0.000978159 0 0 ARHGEF26 26084 broad.mit.edu 37 3 153905608 153905608 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:153905608G>A ENST00000356448.4 + 7 1906 c.1622G>A c.(1621-1623)cGa>cAa p.R541Q ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.R541Q NM_001251962.1 NP_001238891.1 Q96DR7 ARHGQ_HUMAN Rho guanine nucleotide exchange factor (GEF) 26 541 DH. regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 23 TACCAACAACGAACACTACAA 0.323000 6 22 0 0 0.000157383 0 0 TEX14 56155 broad.mit.edu 37 17 56664997 56664997 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:56664997G>A ENST00000389934.3 - 17 2850 c.2733C>T c.(2731-2733)atC>atT p.I911I TEX14_ENST00000349033.5_Silent_p.I911I|TEX14_ENST00000240361.8_Silent_p.I917I NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 917 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGCATTATAGATTTCAGAAG 0.383000 OREG0024616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 35 0 0 0.000375601 0 0 PLSCR2 57047 broad.mit.edu 37 3 146177821 146177821 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:146177821C>T ENST00000497985.1 - 4 529 c.90G>A c.(88-90)ggG>ggA p.G30G PLSCR2_ENST00000336685.2_5'UTR NM_001199978.1 NP_001186907.1 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 0 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity endometrium(2)|large_intestine(5)|lung(7)|stomach(1) 15 CAGCCTGTTTCCCAGTGTGTC 0.517000 4 5 0 0 0.00024832 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147019205 147019205 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:147019205C>T ENST00000265272.5 - 10 1987 c.1520G>A c.(1519-1521)cGa>cAa p.R507Q JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R507Q|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R465Q NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 507 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTGGCTTCTCGTTCAGCGTC 0.448000 131 237 0 0 0.000781405 0 0 DSCAM 1826 broad.mit.edu 37 21 41719788 41719788 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr21:41719788G>A ENST00000400454.1 - 6 1496 c.1019C>T c.(1018-1020)aCt>aTt p.T340I NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 340 Ig-like C2-type 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CTGGTCCTCAGTTCCTGTCAC 0.488000 33 55 0 0 0.00178596 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101572119 101572119 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:101572119C>T ENST00000326172.5 + 5 864 c.749C>T c.(748-750)cCc>cTc p.P250L NFKBIZ_ENST00000394054.2_Missense_Mutation_p.P150L|NFKBIZ_ENST00000326151.5_Intron NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 CAGAGCTCCCCCGCAGAGCAG 0.517000 25 40 0 0 0.00047179 0 0 PRKG2 5593 broad.mit.edu 37 4 82125774 82125774 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:82125774G>A ENST00000395578.1 - 2 544 c.428C>T c.(427-429)tCc>tTc p.S143F PRKG2_ENST00000418486.2_Missense_Mutation_p.S143F|PRKG2_ENST00000264399.1_Missense_Mutation_p.S143F Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 143 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 TTTCTCAAAGGAAAATTCAGG 0.453000 117 92 0 0 0.000781405 0 0 CADM3 57863 broad.mit.edu 37 1 159166699 159166699 + Nonsense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:159166699G>A ENST00000368125.4 + 7 958 c.801G>A c.(799-801)tgG>tgA p.W267* CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Nonsense_Mutation_p.W301* NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 267 Ig-like C2-type 2. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) AGTACCTATGGGAGAAGGAGG 0.537000 19 48 0 0 0.000958276 0 0 VPS13C 54832 broad.mit.edu 37 15 62205598 62205598 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:62205598G>A ENST00000261517.5 - 62 8535 c.8462C>T c.(8461-8463)tCa>tTa p.S2821L VPS13C_ENST00000395898.3_Missense_Mutation_p.S2778L|VPS13C_ENST00000249837.3_Missense_Mutation_p.S2778L|VPS13C_ENST00000395896.4_Missense_Mutation_p.S2821L NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2821 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 GGCACTGGTTGAAATTTTTAA 0.378000 32 66 0 0 0.00058488 0 0 FUS 2521 broad.mit.edu 37 16 31202393 31202393 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:31202393G>A ENST00000254108.7 + 14 1608 c.1503G>A c.(1501-1503)ggG>ggA p.G501G FUS_ENST00000568685.1_Silent_p.G502G|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Silent_p.G500G NM_001170634.1|NM_001170937.1|NM_004960.3 NP_001164105.1|NP_001164408.1|NP_004951.1 P35637 FUS_HUMAN fused in sarcoma 501 Arg/Gly-rich. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158) breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1) 22 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) GGGGTGGTGGGGACAGAGGTG 0.592000 T """DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1""" """liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma""" 13 32 0 0 0.000151284 0 0 PEG3 5178 broad.mit.edu 37 19 57328369 57328369 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:57328369C>T ENST00000326441.9 - 10 1804 c.1441G>A c.(1441-1443)Gag>Aag p.E481K ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E357K|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E355K|PEG3_ENST00000423103.2_Missense_Mutation_p.E481K|ZIM2_ENST00000601070.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 481 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCACCATACTCATAGAGGTTC 0.453000 38 78 0 0 0.000692331 0 0 OPN5 221391 broad.mit.edu 37 6 47754326 47754326 + Missense_Mutation SNP A A C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:47754326A>C ENST00000489301.2 + 2 291 c.206A>C c.(205-207)gAa>gCa p.E69A OPN5_ENST00000371211.2_Missense_Mutation_p.E69A|OPN5_ENST00000393699.2_Missense_Mutation_p.E69A Q6U736 OPN5_HUMAN opsin 5 69 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 AGACCCGCTGAAATAATGACT 0.383000 17 47 0 0 0.000566183 0 0 GPR116 221395 broad.mit.edu 37 6 46874485 46874485 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:46874485C>T ENST00000283296.7 - 2 303 c.15G>A c.(13-15)agG>agA p.R5R GPR116_ENST00000265417.7_Silent_p.R5R|RP3-365O12.2_ENST00000451135.1_RNA|GPR116_ENST00000362015.4_Silent_p.R5R|GPR116_ENST00000456426.2_Silent_p.R5R NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 5 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) AAGTGGTTCTCCTTGGGGATT 0.358000 32 44 0 0 0.00058488 0 0 NMNAT3 349565 broad.mit.edu 37 3 139297856 139297856 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:139297856C>T ENST00000406164.1 - 4 603 c.40G>A c.(40-42)Gac>Aac p.D14N NMNAT3_ENST00000339837.5_Missense_Mutation_p.D14N|NMNAT3_ENST00000511444.1_Missense_Mutation_p.D14N|NMNAT3_ENST00000507242.1_5'UTR|RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000512391.1_Missense_Mutation_p.D51N|NMNAT3_ENST00000296202.7_Missense_Mutation_p.D51N|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000413939.2_Intron Q96T66 NMNA3_HUMAN nicotinamide nucleotide adenylyltransferase 3 51 water-soluble vitamin metabolic process cytosol|mitochondrion ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4) 9 CCATAGGTGTCGTTGACAGGA 0.572000 14 22 0 0 0.000219431 0 0 ERCC6L 54821 broad.mit.edu 37 X 71427528 71427528 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:71427528C>T ENST00000373657.1 - 3 1322 c.720G>A c.(718-720)agG>agA p.R240R ERCC6L_ENST00000334463.3_Silent_p.R363R|PIN4_ENST00000423432.2_Intron Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 363 Helicase ATP-binding. cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) AATCATTTTTCCTGGAAAGGG 0.363000 51 106 0 0 0.000781405 0 0 DNAH1 25981 broad.mit.edu 37 3 52426985 52426985 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:52426985C>T ENST00000420323.2 + 65 10679 c.10418C>T c.(10417-10419)tCc>tTc p.S3473F NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3538 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TACCAGTACTCCCTTGAGTGG 0.582000 40 66 0 0 0.000680045 0 0 FOXA1 3169 broad.mit.edu 37 14 38061585 38061585 + Missense_Mutation SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:38061585T>C ENST00000250448.2 - 2 465 c.404A>G c.(403-405)aAc>aGc p.N135S FOXA1_ENST00000540786.1_Missense_Mutation_p.N102S|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 135 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) CATGCACGGGTTCATGGCGGC 0.736000 8 10 0 0 0.000157383 0 0 IL3RA 3563 broad.mit.edu 37 X 1471298 1471298 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:1471298G>A ENST00000331035.4 + 6 864 c.515G>A c.(514-516)cGa>cAa p.R172Q IL3RA_ENST00000381469.2_Missense_Mutation_p.R94Q NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 172 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GACATCTCTCGACTCTCCAGC 0.532000 46 86 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9083027 9083027 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:9083027A>T ENST00000397910.4 - 1 8991 c.8788T>A c.(8788-8790)Tcc>Acc p.S2930T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2931 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAGACTTGGACAGTGAGGAA 0.468000 24 50 0 0 0.000878237 0 0 VNN3 55350 broad.mit.edu 37 6 133049906 133049906 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:133049906C>T ENST00000367927.5 - 3 583 c.511G>A c.(511-513)Gga>Aga p.G171R VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000450865.2_Intron|VNN3_ENST00000414302.2_Intron|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000509351.1_Intron|VNN3_ENST00000423615.2_Intron|VNN3_ENST00000417437.2_Intron|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000427187.2_Missense_Mutation_p.G171R|VNN3_ENST00000207771.3_Missense_Mutation_p.G171R vanin 3 cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168) AACAGTTTTCCCTGAGAATCA 0.463000 18 35 0 0 0.00074312 0 0 SNHG14 104472715 broad.mit.edu 37 15 25455073 25455073 + RNA SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:25455073G>A ENST00000424208.1 + 0 2384 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-22_ENST00000364456.1_RNA NR_003305.1 TTGGGTCAATGATGAGAACCT 0.512000 75 138 0 0 0.000781405 0 0 WISP1 8840 broad.mit.edu 37 8 134232969 134232969 + Silent SNP C C A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:134232969C>A ENST00000250160.6 + 3 601 c.495C>A c.(493-495)ctC>ctA p.L165L WISP1_ENST00000377863.2_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 165 VWFC. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CCCCGCGTCTCTGGTGCCCCC 0.672000 20 27 0.000295444 0.00165734 0.000295444 1 0 ZNF813 126017 broad.mit.edu 37 19 53994194 53994194 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:53994194C>T ENST00000396403.4 + 4 836 c.708C>T c.(706-708)atC>atT p.I236I ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) ATCAAATAATCCATTTAGGAG 0.388000 31 57 0 0 0.001512 0 0 CNOT1 23019 broad.mit.edu 37 16 58557398 58557398 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:58557398G>A ENST00000317147.5 - 47 7125 c.6793C>T c.(6793-6795)Ctc>Ttc p.L2265F CNOT1_ENST00000569240.1_Missense_Mutation_p.L2260F|CNOT1_ENST00000245138.4_Missense_Mutation_p.L1116F NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 2265 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TTCAAAAAGAGATAGCGACCT 0.443000 30 43 0 0 0.000339439 0 0 KIAA1217 56243 broad.mit.edu 37 10 24762301 24762301 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:24762301C>T ENST00000376451.2 + 2 405 c.145C>T c.(145-147)Cct>Tct p.P49S KIAA1217_ENST00000376462.1_Missense_Mutation_p.P251S|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P331S|KIAA1217_ENST00000430453.2_Missense_Mutation_p.P252S|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P331S|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P49S|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P49S|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P49S|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P331S Q5T5P2 SKT_HUMAN KIAA1217 331 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GTCCAGAATTCCTTATGGGGG 0.612000 16 8 0 0 0.000308642 0 0 MROH2B 133558 broad.mit.edu 37 5 41038872 41038872 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:41038872G>A ENST00000399564.4 - 21 2630 c.2180C>T c.(2179-2181)tCc>tTc p.S727F MROH2B_ENST00000506092.2_Missense_Mutation_p.S282F NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CAGGACTTGGGATATGATATC 0.507000 12 26 0 0 0.00136819 0 0 RABEP1 9135 broad.mit.edu 37 17 5212019 5212019 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:5212019A>T ENST00000262477.6 + 2 289 c.65A>T c.(64-66)gAa>gTa p.E22V RABEP1_ENST00000546142.2_Missense_Mutation_p.E22V|RABEP1_ENST00000408982.2_Missense_Mutation_p.E22V|RABEP1_ENST00000341923.6_Missense_Mutation_p.E22V|RABEP1_ENST00000537505.1_Intron NM_004703.4 NP_004694.2 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 22 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 GCAGAATTGGAAAAAATTAAT 0.303000 15 22 0 0 0.000308642 0 0 PEAK1 79834 broad.mit.edu 37 15 77474242 77474242 + Silent SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:77474242T>C ENST00000560626.2 - 4 502 c.27A>G c.(25-27)gaA>gaG p.E9E PEAK1_ENST00000312493.4_Silent_p.E9E|PEAK1_ENST00000558305.1_Silent_p.E9E Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 9 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding TCCAAACATGTTCAGTAAAGG 0.398000 34 43 0 0 0.00058488 0 0 OR10X1 128367 broad.mit.edu 37 1 158549411 158549411 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:158549411G>A ENST00000368150.1 - 1 278 c.279C>T c.(277-279)atC>atT p.I93I NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) TCTTGGGGACGATGGTCAGCG 0.502000 15 33 0 0 0.000308642 0 0 NAV3 89795 broad.mit.edu 37 12 78562585 78562585 + Missense_Mutation SNP G G T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:78562585G>T ENST00000397909.2 + 24 5093 c.4920G>T c.(4918-4920)caG>caT p.Q1640H NAV3_ENST00000266692.7_Missense_Mutation_p.Q1463H|NAV3_ENST00000536525.2_Missense_Mutation_p.Q1640H|NAV3_ENST00000228327.6_Missense_Mutation_p.Q1640H Q8IVL0 NAV3_HUMAN neuron navigator 3 1640 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TGAAGGCTCAGAATTCTGCTG 0.393000 HNSCC(70;0.22) 39 78 2.13384e-23 1.21261e-22 0.000781405 1 0 ESM1 11082 broad.mit.edu 37 5 54281074 54281074 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:54281074G>A ENST00000381405.4 - 1 417 c.272C>T c.(271-273)cCt>cTt p.P91L ESM1_ENST00000381403.4_Missense_Mutation_p.P91L|ESM1_ENST00000598310.1_Intron NM_007036.4 NP_008967.1 Q9NQ30 ESM1_HUMAN endothelial cell-specific molecule 1 91 IGFBP N-terminal. angiogenesis|regulation of cell growth extracellular region growth factor activity|insulin-like growth factor binding breast(1)|kidney(1)|large_intestine(4)|lung(4) 10 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116) Lung(15;0.23) TTCACCAAAAGGATCCTCCCC 0.572000 43 66 0 0 0.000589545 0 0 OSBPL7 114881 broad.mit.edu 37 17 45885931 45885931 + Missense_Mutation SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:45885931T>C ENST00000007414.3 - 22 2584 c.2393A>G c.(2392-2394)aAc>aGc p.N798S OSBPL7_ENST00000392507.3_Missense_Mutation_p.N798S NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 798 lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 GTGTACGATGTTGTTTTCCTC 0.627000 73 104 0 0 0.000781405 0 0 CCR3 1232 broad.mit.edu 37 3 46307149 46307149 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:46307149C>T ENST00000357422.2 + 4 1043 c.500C>T c.(499-501)cCt>cTt p.P167L CCR3_ENST00000395942.2_Missense_Mutation_p.P167L|CCR3_ENST00000395940.2_Missense_Mutation_p.P167L|CCR3_ENST00000545097.1_Missense_Mutation_p.P188L|CCR3_ENST00000541018.1_Missense_Mutation_p.P167L P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 167 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) GCAGCTCTTCCTGAATTTATC 0.493000 31 46 0 0 0.00178596 0 0 OR10P1 121130 broad.mit.edu 37 12 56031459 56031459 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:56031459C>T ENST00000309675.2 + 1 816 c.784C>T c.(784-786)Cgg>Tgg p.R262W NM_206899.1 NP_996782.1 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, member 1 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 CACCTACATCCGGCCGCAGGC 0.577000 28 53 0 0 0.00178596 0 0 ITFG2 55846 broad.mit.edu 37 12 2927308 2927308 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:2927308C>T ENST00000228799.2 + 4 410 c.271C>T c.(271-273)Cat>Tat p.H91Y ITFG2_ENST00000419778.2_Intron|ITFG2_ENST00000542548.1_5'UTR NM_018463.3 NP_060933.3 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 91 central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(31;0.000818) AGGCTGGTTTCATTTGTTTGA 0.517000 28 44 0 0 0.00127121 0 0 TPTE 7179 broad.mit.edu 37 21 10914379 10914379 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr21:10914379G>A ENST00000298232.7 - 20 1653 c.1286C>T c.(1285-1287)tCa>tTa p.S429L TPTE_ENST00000342420.5_Missense_Mutation_p.S409L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.S447L NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 447 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTTCCTAATGAAATAGTGGA 0.328000 10 65 0 0 0.000151284 0 0 GPR64 10149 broad.mit.edu 37 X 19042051 19042051 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:19042051G>A ENST00000354791.3 - 11 679 c.438C>T c.(436-438)aaC>aaT p.N146N GPR64_ENST00000357544.3_Silent_p.N132N|GPR64_ENST00000379869.3_Silent_p.N162N|GPR64_ENST00000379876.1_Silent_p.N138N|GPR64_ENST00000340581.3_Silent_p.N132N|GPR64_ENST00000379878.3_Silent_p.N146N|GPR64_ENST00000379873.2_Silent_p.N162N|GPR64_ENST00000357991.3_Silent_p.N159N|GPR64_ENST00000356606.4_Silent_p.N148N|GPR64_ENST00000360279.4_Silent_p.N140N Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 162 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) GCAGGGTTTTGTTGAGCTCTG 0.358000 22 37 0 0 0.000878237 0 0 EGFLAM 133584 broad.mit.edu 37 5 38406929 38406929 + Splice_Site SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:38406929G>A ENST00000322350.5 + 8 1174 c.e8-1 EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Splice_Site|EGFLAM_ENST00000336740.6_Splice_Site NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TCTGGCTTTAGGTTAAACCAC 0.398000 15 16 0 0 0.000308642 0 0 CADM2 253559 broad.mit.edu 37 3 86115815 86115815 + Splice_Site SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:86115815G>A ENST00000383699.3 + 10 1724 c.1096_splice c.e10-1 p.G366_splice CADM2_ENST00000405615.2_Splice_Site_p.G399_splice|CADM2_ENST00000407528.2_Splice_Site_p.G397_splice NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 397 adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) ATATATGCAGGAACGTATTTA 0.373000 22 32 0 0 0.000375601 0 0 CACNG4 27092 broad.mit.edu 37 17 65026931 65026931 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:65026931C>T ENST00000262138.3 + 4 797 c.795C>T c.(793-795)atC>atT p.I265I NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 265 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) GCCTGAAGATCACAGGGGCCA 0.677000 16 21 0 0 0.000308642 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23391174 23391174 + Missense_Mutation SNP C C G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:23391174C>G ENST00000258729.3 - 6 789 c.433G>C c.(433-435)Gag>Cag p.E145Q IGF2BP3_ENST00000491719.1_5'UTR NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 145 RRM 2. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 GTGAAATTCTCTAACTGAAAT 0.502000 33 39 0 0 0.00058488 0 0 MFAP5 8076 broad.mit.edu 37 12 8808044 8808044 + Splice_Site SNP C C A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:8808044C>A ENST00000359478.2 - 5 327 c.e5-1 MFAP5_ENST00000535336.1_Splice_Site|MFAP5_ENST00000396549.2_Splice_Site|MFAP5_ENST00000543369.1_Splice_Site|MFAP5_ENST00000538107.1_Splice_Site|MFAP5_ENST00000540087.1_Splice_Site|MFAP5_ENST00000433590.2_Splice_Site NM_003480.2 NP_003471.1 Q13361 MFAP5_HUMAN microfibrillar associated protein 5 microfibril extracellular matrix structural constituent breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1) 13 Lung SC(5;0.184) TTCACCAGATCTGCAAAGACA 0.378000 12 30 6.31663e-08 3.57043e-07 0.000308642 1 0 POSTN 10631 broad.mit.edu 37 13 38144728 38144728 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr13:38144728C>T ENST00000379747.4 - 19 2375 c.2258G>A c.(2257-2259)cGa>cAa p.R753Q POSTN_ENST00000541481.1_Intron|POSTN_ENST00000379743.4_Missense_Mutation_p.R726Q|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000541179.1_Missense_Mutation_p.R726Q|POSTN_ENST00000379749.4_Missense_Mutation_p.R753Q|POSTN_ENST00000379742.4_Missense_Mutation_p.R696Q NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 753 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) TGTAATGATTCGTTCTTCTCG 0.318000 23 40 0 0 0.000720815 0 0 DOCK3 1795 broad.mit.edu 37 3 51297745 51297745 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:51297745C>T ENST00000266037.9 + 23 2366 c.2343C>T c.(2341-2343)ctC>ctT p.L781L NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 781 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CAGAAACACTCCTTTTTACTC 0.468000 7 17 0 0 0.000442599 0 0 AKAP11 11215 broad.mit.edu 37 13 42875532 42875532 + Missense_Mutation SNP G G T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr13:42875532G>T ENST00000025301.2 + 8 2825 c.2650G>T c.(2650-2652)Gta>Tta p.V884L NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 884 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) GCATACGATAGTAAATGAAAC 0.338000 5 28 1.23904e-05 6.97172e-05 0.000602214 1 0 TTBK1 84630 broad.mit.edu 37 6 43227423 43227423 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:43227423G>A ENST00000259750.4 + 12 1486 c.1403G>A c.(1402-1404)cGa>cAa p.R468Q TTBK1_ENST00000304139.5_Missense_Mutation_p.R417Q NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 468 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) GCGGACGGGCGAGTGGAGCTA 0.657000 4 4 0 0 0.00116845 0 0 MUTYH 4595 broad.mit.edu 37 1 45797397 45797397 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:45797397G>A ENST00000450313.1 - 12 1337 c.1122C>T c.(1120-1122)acC>acT p.T374T MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000372110.3_Silent_p.T361T|MUTYH_ENST00000372100.5_Silent_p.T357T|MUTYH_ENST00000456914.2_Silent_p.T346T|MUTYH_ENST00000355498.2_Silent_p.T346T|MUTYH_ENST00000448481.1_Silent_p.T357T|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372115.3_Silent_p.T360T|MUTYH_ENST00000354383.6_Silent_p.T347T|MUTYH_ENST00000372104.1_Silent_p.T346T|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000372098.3_Silent_p.T371T NM_001128425.1|NM_012222.2 NP_001121897.1|NP_036354.1 Q9UIF7 MUTYH_HUMAN mutY homolog 371 Nudix hydrolase. depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) CCAGAACACAGGTGGCAGAGC 0.647000 Mis colorectal Base excision repair (BER), DNA glycosylases MUTYH-associated polyposis 11 20 0 0 0.000978159 0 0 VANGL2 57216 broad.mit.edu 37 1 160389128 160389128 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:160389128C>T ENST00000368061.2 + 4 1003 c.529C>T c.(529-531)Cgc>Tgc p.R177C NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 177 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTCGCTGCCCCGCGTCTTTGT 0.627000 46 53 0 0 0.000781405 0 0 TTLL7 79739 broad.mit.edu 37 1 84408234 84408234 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:84408234G>A ENST00000260505.8 - 7 1012 c.635C>T c.(634-636)tCg>tTg p.S212L TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 212 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) TGGATCACACGATGTAACCAG 0.373000 22 39 0 0 0.000375601 0 0 TRBV7-4 28594 broad.mit.edu 37 7 142176473 142176473 + RNA SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:142176473G>A ENST00000390369.2 - 0 202 ATCACTCTGGGAGTAAGTCAG 0.547000 18 40 0 0 0.000958276 0 0 SPAG17 200162 broad.mit.edu 37 1 118644447 118644447 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:118644447C>T ENST00000336338.5 - 5 615 c.550G>A c.(550-552)Gat>Aat p.D184N NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 184 Lys-rich. cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TCAGGCTGATCCTTTCCCTTT 0.463000 50 83 0 0 0.000781405 0 0 HCN2 610 broad.mit.edu 37 19 614009 614009 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:614009C>T ENST00000251287.2 + 7 2036 c.1983C>T c.(1981-1983)gaC>gaT p.D661D NM_001194.3 NP_001185.3 Q9UL51 HCN2_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 2 661 cell-cell signaling|muscle contraction voltage-gated potassium channel complex cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity endometrium(5)|lung(4) 9 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCGCCTGGACCGCATCGGTG 0.706000 5 14 0 0 0.000602214 0 0 TTLL2 83887 broad.mit.edu 37 6 167755067 167755067 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:167755067T>A ENST00000239587.5 + 3 1767 c.1679T>A c.(1678-1680)tTt>tAt p.F560Y NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 560 protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GTTCTTGTTTTTCCTTTCAAT 0.458000 18 39 0 0 0.000566183 0 0 DOCK3 1795 broad.mit.edu 37 3 51370667 51370667 + Silent SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:51370667A>G ENST00000266037.9 + 35 3617 c.3594A>G c.(3592-3594)gaA>gaG p.E1198E NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1198 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GCCTCATGGAACGTCTTCTTG 0.542000 25 63 0 0 0.000339439 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802724 185802724 + Silent SNP G G A rs112021606 byFrequency TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:185802724G>A ENST00000302277.6 + 4 3195 c.2601G>A c.(2599-2601)agG>agA p.R867R NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 867 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AAATCGAAAGGAACTCAGAAC 0.358000 28 48 0 0 0.000878237 0 0 XIRP2 129446 broad.mit.edu 37 2 168108204 168108204 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:168108204G>A ENST00000409195.1 + 9 10391 c.10302G>A c.(10300-10302)atG>atA p.M3434I XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.M3434I|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.M3212I NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3259 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 AGTCGAAGATGAAAACCTCTT 0.448000 34 29 0 0 0.000692331 0 0 QKI 9444 broad.mit.edu 37 6 163984665 163984665 + Nonsense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:163984665T>A ENST00000361752.3 + 6 1399 c.848T>A c.(847-849)tTa>tAa p.L283* QKI_ENST00000453779.2_Nonsense_Mutation_p.L283*|QKI_ENST00000361195.2_Nonsense_Mutation_p.L275*|QKI_ENST00000392127.2_Nonsense_Mutation_p.L283*|QKI_ENST00000424802.3_Nonsense_Mutation_p.L275*|QKI_ENST00000275262.7_Nonsense_Mutation_p.L283* NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2 NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1 Q96PU8 QKI_HUMAN QKI, KH domain containing, RNA binding 283 mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2) 27 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) GAAGCTGGTTTAATCTATACA 0.463000 31 34 0 0 0.001512 0 0 TAF9 6880 broad.mit.edu 37 5 68665291 68665291 + Splice_Site SNP G G C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:68665291G>C ENST00000380822.4 - 1 78 c.28_splice c.e1+1 p.T9_splice RAD17_ENST00000361732.2_5'UTR|TAF9_ENST00000512561.1_Splice_Site_p.T9_splice|TAF9_ENST00000502819.1_5'UTR|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000328663.4_Intron|TAF9_ENST00000217893.5_5'UTR NM_016283.4 NP_057367.1 Q9Y3D8 KAD6_HUMAN TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa 9 Cajal body adenylate kinase activity|ATP binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 8 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176) CGCCCTGACCGGTGAGCAGGA 0.731000 10 23 0 0 0.00136819 0 0 MUC16 94025 broad.mit.edu 37 19 9046062 9046062 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:9046062C>T ENST00000397910.4 - 5 35772 c.35569G>A c.(35569-35571)Gaa>Aaa p.E11857K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11859 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGCTGGTTTCTGTCCCTGGA 0.493000 33 56 0 0 0.00058488 0 0 GPR32 2854 broad.mit.edu 37 19 51274719 51274719 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:51274719G>A ENST00000270590.4 + 1 999 c.862G>A c.(862-864)Gaa>Aaa p.E288K NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 288 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GATGCTCAAGGAAATCTACCA 0.567000 17 41 0 0 0.000566183 0 0 ZNF793 390927 broad.mit.edu 37 19 38027988 38027988 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:38027988G>A ENST00000445217.1 + 4 463 c.428G>A c.(427-429)gGa>gAa p.G143E ZNF793_ENST00000542455.1_Missense_Mutation_p.G143E|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000587143.1_Missense_Mutation_p.G143E|ZNF793_ENST00000589319.1_Intron Q6ZN11 ZN793_HUMAN zinc finger protein 793 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AACCCTTGTGGAAAGAATTTG 0.353000 8 24 0 0 0.000274275 0 0 ENPP2 5168 broad.mit.edu 37 8 120608147 120608147 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:120608147C>T ENST00000259486.6 - 12 1117 c.1068G>A c.(1066-1068)aaG>aaA p.K356K ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000427067.2_Intron|ENPP2_ENST00000075322.6_Intron NM_006209.4 NP_006200.3 Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 324 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TTCTTCTTTTCTTTGGAGGAG 0.443000 42 72 0 0 0.000589545 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553921 140553921 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:140553921C>T ENST00000231137.3 + 1 1679 c.1505C>T c.(1504-1506)tCc>tTc p.S502F NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 502 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCCTCGCCTCCCTGGTCTCC 0.672000 33 44 0 0 0.00128727 0 0 CERCAM 51148 broad.mit.edu 37 9 131198100 131198100 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:131198100C>T ENST00000372842.1 + 13 4614 c.1470C>T c.(1468-1470)tcC>tcT p.S490S CERCAM_ENST00000372838.4_Silent_p.S568S Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 568 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 GGAGCGGCTCCCAAAAGACCC 0.677000 7 4 0 0 0.000157383 0 0 DMKN 93099 broad.mit.edu 37 19 36004094 36004094 + Missense_Mutation SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:36004094A>G ENST00000339686.3 - 1 460 c.284T>C c.(283-285)tTg>tCg p.L95S DMKN_ENST00000424570.2_Missense_Mutation_p.L95S|DMKN_ENST00000440396.1_Missense_Mutation_p.L95S|DMKN_ENST00000451297.2_Missense_Mutation_p.L95S|DMKN_ENST00000447113.2_Missense_Mutation_p.L95S|DMKN_ENST00000429837.1_Missense_Mutation_p.L95S|DMKN_ENST00000419602.1_Missense_Mutation_p.L95S|DMKN_ENST00000418261.1_Missense_Mutation_p.L95S NM_033317.4 NP_201574.3 Q6E0U4 DMKN_HUMAN dermokine 95 Gly-rich. extracellular region NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCTGTTGCCCAAAGCATCTGC 0.582000 11 34 0 0 0.000673444 0 0 ZNF544 27300 broad.mit.edu 37 19 58772667 58772667 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:58772667G>A ENST00000269829.4 + 7 1169 c.695G>A c.(694-696)gGa>gAa p.G232E ZNF544_ENST00000600044.1_Missense_Mutation_p.G204E|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.G90E|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600220.1_Missense_Mutation_p.G204E|ZNF544_ENST00000596652.1_Missense_Mutation_p.G232E|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.G204E|ZNF544_ENST00000599227.1_3'UTR NM_014480.2 NP_055295.2 Q6NX49 ZN544_HUMAN zinc finger protein 544 232 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) AGTAAACTTGGAAACGTTGAA 0.383000 36 50 0 0 0.000692331 0 0 LOC344967 344967 broad.mit.edu 37 4 40045197 40045197 + RNA SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:40045197G>A ENST00000381811.2 - 0 952 NR_027277.1 CCACCAGGTGGATCAAGCTGG 0.607000 7 12 0 0 0.000442599 0 0 SLC9A9 285195 broad.mit.edu 37 3 142985627 142985627 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:142985627C>T ENST00000316549.6 - 16 2063 c.1855G>A c.(1855-1857)Gaa>Aaa p.E619K NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 619 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 TAAATGTTTTCCTTGCCTGGC 0.502000 39 49 0 0 0.00170553 0 0 SLC15A2 6565 broad.mit.edu 37 3 121649724 121649724 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:121649724C>T ENST00000489711.1 + 18 1979 c.1591C>T c.(1591-1593)Ctg>Ttg p.L531L SLC15A2_ENST00000295605.2_Silent_p.L500L|SLC15A2_ENST00000465060.1_3'UTR NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 531 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) CAACATCTCCCTGAGTACAGA 0.403000 27 28 0 0 0.000409698 0 0 SNORD114-3 767579 broad.mit.edu 37 14 101419726 101419726 + RNA SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:101419726G>A ENST00000364969.1 + 0 41 NR_003195.1 AGTCATGGACGATGAATACTA 0.413000 25 44 0 0 0.001512 0 0 PTPRN2 5799 broad.mit.edu 37 7 157985162 157985162 + Missense_Mutation SNP C C T rs146516476 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:157985162C>T ENST00000389413.3 - 5 509 c.406G>A c.(406-408)Gag>Aag p.E136K PTPRN2_ENST00000389418.4_Missense_Mutation_p.E136K|PTPRN2_ENST00000389416.4_Missense_Mutation_p.E119K|PTPRN2_ENST00000409483.1_Missense_Mutation_p.E98K|PTPRN2_ENST00000404321.2_Missense_Mutation_p.E159K NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 136 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.E136K(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TACCTCCTCTCGCTGCCAACG 0.632000 60 41 0 0 0.000781405 0 0 SRGAP2 23380 broad.mit.edu 37 1 206628240 206628240 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:206628240G>A ENST00000414007.1 + 17 1957 c.1957G>A c.(1957-1959)Gag>Aag p.E653K SRGAP2_ENST00000419187.2_Missense_Mutation_p.E98K|SRGAP2_ENST00000471256.1_3'UTR O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 793 Rho-GAP. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) CGGTGTCGTGGAGAGGTCCAG 0.587000 14 44 0 0 0.000308642 0 0 ZNF224 7767 broad.mit.edu 37 19 44610559 44610559 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:44610559C>T ENST00000336976.6 + 6 500 c.246C>T c.(244-246)atC>atT p.I82I AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 82 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) GAGACAAGATCCAAACTGAGA 0.413000 7 22 0 0 0.000157383 0 0 KIF13B 23303 broad.mit.edu 37 8 29023289 29023289 + Splice_Site SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:29023289C>T ENST00000524189.1 - 12 1197 c.1158_splice c.e12-1 p.A387_splice KIF13B_ENST00000521515.1_Splice_Site_p.A387_splice NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 387 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) GATTTCATTGCCTACAAGCAA 0.428000 15 42 0 0 0.000422831 0 0 ALDH18A1 5832 broad.mit.edu 37 10 97388165 97388165 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:97388165C>T ENST00000371224.2 - 8 1030 c.893G>A c.(892-894)gGa>gAa p.G298E ALDH18A1_ENST00000371221.3_Missense_Mutation_p.G296E NM_002860.3 NP_002851.2 P54886 P5CS_HUMAN aldehyde dehydrogenase 18 family, member A1 298 Glutamate 5-kinase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) AGACTTGGTTCCAAATGTCAC 0.418000 50 48 0 0 0.000781405 0 0 HTR5A 3361 broad.mit.edu 37 7 154876080 154876080 + Nonsense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:154876080G>A ENST00000287907.2 + 2 1533 c.957G>A c.(955-957)tgG>tgA p.W319* HTR5A_ENST00000486819.1_3'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 319 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CCGCCATCTGGAAAAGCATCT 0.522000 93 72 0 0 0.000781405 0 0 INF2 64423 broad.mit.edu 37 14 105179883 105179883 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:105179883G>A ENST00000392634.4 + 20 3092 c.2980G>A c.(2980-2982)Ggg>Agg p.G994R INF2_ENST00000330634.7_Missense_Mutation_p.G994R NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 994 actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) CCGGGGCCGCGGGGACACCGA 0.667000 3 7 0 0 0.00024832 0 0 SHROOM4 57477 broad.mit.edu 37 X 50376200 50376200 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:50376200T>A ENST00000376020.2 - 4 2898 c.2873A>T c.(2872-2874)aAa>aTa p.K958I SHROOM4_ENST00000289292.7_Missense_Mutation_p.K958I|SHROOM4_ENST00000460112.3_Missense_Mutation_p.K842I NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 958 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) CTTCCTGGGTTTCCAAGTGTT 0.483000 5 11 0 0 8.12818e-05 0 0 LOC442028 442028 broad.mit.edu 37 2 95552769 95552769 + RNA SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:95552769C>T ENST00000568768.1 - 0 476 TCAATTCCTCCTTTGTCATAA 0.393000 6 10 0 0 0.00116845 0 0 FCRL3 115352 broad.mit.edu 37 1 157667645 157667645 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:157667645C>T ENST00000368184.3 - 5 654 c.363G>A c.(361-363)caG>caA p.Q121Q FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.Q121Q NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 121 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) TGTCTTTCCCCTGACATCTCA 0.418000 34 57 0 0 0.000491102 0 0 CYP2S1 29785 broad.mit.edu 37 19 41703762 41703762 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:41703762G>A ENST00000310054.4 + 3 638 c.422G>A c.(421-423)gGg>gAg p.G141E CYP2S1_ENST00000542619.1_Intron NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 141 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 CTGGGCATGGGGAAGCGAGAA 0.622000 26 26 0 0 0.00127121 0 0 PRKCG 5582 broad.mit.edu 37 19 54395856 54395856 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:54395856C>T ENST00000263431.3 + 7 1062 c.780C>T c.(778-780)tcC>tcT p.S260S PRKCG_ENST00000542049.1_Silent_p.S147S|PRKCG_ENST00000540413.1_Silent_p.S260S|PRKCG_ENST00000536044.1_Silent_p.S260S NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 260 C2. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) GGGCCATGTCCTTTGGCGTCT 0.647000 12 24 0 0 0.000151284 0 0 GSPT2 23708 broad.mit.edu 37 X 51487254 51487254 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:51487254G>A ENST00000340438.4 + 1 774 c.532G>A c.(532-534)Gaa>Aaa p.E178K NM_018094.4 NP_060564.2 Q8IYD1 ERF3B_HUMAN G1 to S phase transition 2 178 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) AAGTGGCCAGGAAATGATGGA 0.478000 4 19 0 0 0.000602214 0 0 RYR1 6261 broad.mit.edu 37 19 38966067 38966067 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:38966067G>A ENST00000355481.4 + 29 4401 c.4270G>A c.(4270-4272)Gag>Aag p.E1424K RYR1_ENST00000359596.3_Missense_Mutation_p.E1424K|RYR1_ENST00000360985.3_Missense_Mutation_p.E1424K NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1424 6 X approximate repeats.|B30.2/SPRY 3. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CGATGACCCCGAGATCATCCT 0.597000 8 18 0 0 0.000157383 0 0 ZNF90 7643 broad.mit.edu 37 19 20229372 20229372 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:20229372G>A ENST00000418063.2 + 4 1121 c.1009G>A c.(1009-1011)Gga>Aga p.G337R ZNF90_ENST00000474284.1_Intron NM_007138.1 NP_009069.1 Q03938 ZNF90_HUMAN zinc finger protein 90 337 Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 AATCCATACTGGAGAGAAACC 0.413000 4 10 0 0 0.00024832 0 0 APOBR 55911 broad.mit.edu 37 16 28509439 28509439 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:28509439C>T ENST00000564831.1 + 3 3026 c.2993C>T c.(2992-2994)cCa>cTa p.P998L APOBR_ENST00000328423.5_Missense_Mutation_p.P989L|APOBR_ENST00000431282.1_Missense_Mutation_p.P989L NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 989 cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 GTCTCTGTCCCAAGGAGTCGC 0.687000 6 18 0 0 0.00116845 0 0 OR8B2 26595 broad.mit.edu 37 11 124253229 124253229 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:124253229C>T ENST00000375013.2 - 1 29 c.11G>A c.(10-12)aGa>aAa p.R4K NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GGAGTTGTTTCTAGCCAGCAT 0.368000 19 16 0 0 0.00074312 0 0 SUN1 23353 broad.mit.edu 37 7 872193 872193 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:872193C>T ENST00000456758.2 + 4 206 c.206C>T c.(205-207)cCt>cTt p.P69L SUN1_ENST00000401592.1_Missense_Mutation_p.P11L|SUN1_ENST00000403868.1_Missense_Mutation_p.P11L|SUN1_ENST00000389574.3_Intron|SUN1_ENST00000405266.1_Missense_Mutation_p.P11L|SUN1_ENST00000457378.2_Missense_Mutation_p.P32L|SUN1_ENST00000452783.2_Missense_Mutation_p.P11L|SUN1_ENST00000425407.2_5'UTR O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 11 LMNA-binding. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ATGTACAGTCCTCCCCAGTGT 0.552000 9 8 0 0 0.000442599 0 0 ATP2B3 492 broad.mit.edu 37 X 152835063 152835063 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:152835063G>A ENST00000370186.1 + 20 3629 c.3303G>A c.(3301-3303)atG>atA p.M1101I ATP2B3_ENST00000359149.3_Missense_Mutation_p.M1115I|ATP2B3_ENST00000393842.1_Missense_Mutation_p.M1101I|ATP2B3_ENST00000263519.4_Intron|ATP2B3_ENST00000370181.2_Missense_Mutation_p.M1101I|ATP2B3_ENST00000349466.2_Intron Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 1115 Calmodulin-binding subdomain A (By similarity). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCCCACAGATGGAGGTAGTGA 0.552000 35 92 0 0 0.00111076 0 0 STAMBPL1 57559 broad.mit.edu 37 10 90733018 90733018 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:90733018G>A ENST00000371927.3 + 11 2292 c.1334G>A c.(1333-1335)gGa>gAa p.G445E ACTA2_ENST00000458208.1_Intron Q96FJ0 STALP_HUMAN STAM binding protein-like 1 0 metal ion binding|metallopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1) 11 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) GGACCAAATGGATTCCCACTC 0.433000 26 18 0 0 0.000586117 0 0 RERE 473 broad.mit.edu 37 1 8716118 8716118 + Missense_Mutation SNP G G A rs139888880 byFrequency TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:8716118G>A ENST00000337907.3 - 3 873 c.239C>T c.(238-240)cCg>cTg p.P80L RERE_ENST00000400908.2_Missense_Mutation_p.P80L|RERE_ENST00000400907.2_Missense_Mutation_p.P80L NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 80 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P80Q(1) central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CTTTTTTTTCGGTGGTTTCTT 0.443000 90 162 0 0 0.000781405 0 0 DNAH6 1768 broad.mit.edu 37 2 84780120 84780120 + Nonsense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:84780120C>T ENST00000389394.3 + 10 1701 c.1564C>T c.(1564-1566)Cag>Tag p.Q522* DNAH6_ENST00000398278.2_Nonsense_Mutation_p.Q522*|DNAH6_ENST00000237449.6_Nonsense_Mutation_p.Q522* NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 522 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 GTTGACAGTCCAGTCACTGCT 0.408000 46 73 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9048845 9048845 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:9048845C>T ENST00000397910.4 - 5 32989 c.32786G>A c.(32785-32787)gGg>gAg p.G10929E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10931 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCCTGGTACCCCAGGTGAAAC 0.493000 27 46 0 0 0.000720815 0 0 ZNF816 125893 broad.mit.edu 37 19 53454809 53454809 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:53454809G>A ENST00000357666.4 - 5 519 c.219C>T c.(217-219)ttC>ttT p.F73F ZNF816_ENST00000444460.2_Silent_p.F73F|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000391786.2_3'UTR NM_001031665.2 NP_001026835.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 73 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 TGGTTGATGAGAACTCCATCA 0.353000 36 52 0 0 0.00128727 0 0 SFTPD 6441 broad.mit.edu 37 10 81701826 81701826 + Splice_Site SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:81701826C>T ENST00000372292.3 - 5 474 c.433_splice c.e5-1 p.G145_splice NM_003019.4 NP_003010.4 P35247 SFTPD_HUMAN surfactant protein D 145 Collagen-like. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) ACCTACTTCTCCTGAAGAAGG 0.577000 22 17 0 0 0.000586117 0 0 SMAD9 4093 broad.mit.edu 37 13 37453563 37453563 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr13:37453563G>A ENST00000379826.4 - 2 606 c.264C>T c.(262-264)ccC>ccT p.P88P SMAD9_ENST00000350148.5_Silent_p.P88P|SMAD9_ENST00000399275.2_Silent_p.P88P NM_001127217.2 NP_001120689.1 O15198 SMAD9_HUMAN SMAD family member 9 88 MH1. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8) 18 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) AAATCACATGGGGCAGGCCCT 0.652000 11 17 0 0 0.00136819 0 0 CATSPERB 79820 broad.mit.edu 37 14 92053616 92053616 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:92053616G>A ENST00000256343.3 - 26 3218 c.3062C>T c.(3061-3063)tCt>tTt p.S1021F NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 1021 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) GAAAAGTTCAGAGCCCTGTGG 0.398000 24 24 0 0 0.000339439 0 0 ABCC12 94160 broad.mit.edu 37 16 48142409 48142409 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:48142409G>A ENST00000311303.3 - 17 2658 c.2313C>T c.(2311-2313)tcC>tcT p.S771S ABCC12_ENST00000448542.1_Silent_p.S768S|ABCC12_ENST00000416054.1_3'UTR NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 771 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) CTTCCTGGGGGGATTCAGTCT 0.502000 43 50 0 0 0.000781405 0 0 TRIM54 57159 broad.mit.edu 37 2 27521592 27521592 + Missense_Mutation SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:27521592A>G ENST00000296098.4 + 2 596 c.326A>G c.(325-327)aAg>aGg p.K109R TRIM54_ENST00000380075.2_Missense_Mutation_p.K109R NM_032546.3 NP_115935.3 Q9BYV2 TRI54_HUMAN tripartite motif containing 54 109 cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GACATTTACAAGCAGGAGTCA 0.547000 12 18 0 0 0.000308642 0 0 ALS2CR12 130540 broad.mit.edu 37 2 202215474 202215474 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:202215474G>A ENST00000405148.2 - 3 588 c.145C>T c.(145-147)Cac>Tac p.H49Y ALS2CR12_ENST00000439709.1_Missense_Mutation_p.H49Y|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.H49Y|ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.H49Y NM_139163.2 NP_631902.2 Q96Q35 AL2SB_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 49 regulation of GTPase activity protein binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2) 21 AGGTAATTGTGATTTTTTGGA 0.378000 15 23 0 0 0.00121646 0 0 AGTR1 185 broad.mit.edu 37 3 148459572 148459572 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:148459572C>T ENST00000542281.1 + 4 1196 c.750C>T c.(748-750)ttC>ttT p.F250F AGTR1_ENST00000349243.3_Silent_p.F250F|AGTR1_ENST00000404754.2_Silent_p.F250F|AGTR1_ENST00000475347.1_Silent_p.F250F|AGTR1_ENST00000418473.2_Silent_p.F250F|AGTR1_ENST00000474935.1_Silent_p.F250F|AGTR1_ENST00000402260.1_Silent_p.F250F|AGTR1_ENST00000497524.1_Silent_p.F250F|AGTR1_ENST00000461609.1_Silent_p.F250F NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 250 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) TTTTCTTTTTCTTTTCCTGGA 0.353000 32 37 0 0 0.000409698 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19418704 19418704 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:19418704C>T ENST00000538714.1 + 8 635 c.631C>T c.(631-633)Ctg>Ttg p.L211L PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000429027.2_Silent_p.L211L|PLEKHA5_ENST00000543806.1_Silent_p.L103L|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000424268.1_Silent_p.L103L|PLEKHA5_ENST00000299275.6_Silent_p.L211L|PLEKHA5_ENST00000309364.4_Silent_p.L211L|PLEKHA5_ENST00000317589.4_Silent_p.L211L|PLEKHA5_ENST00000359180.3_Silent_p.L211L|PLEKHA5_ENST00000355397.3_Silent_p.L211L NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 211 PH. 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) AGAGGGTATCCTGGGAAGCAT 0.313000 37 87 0 0 0.00170553 0 0 ZNF676 163223 broad.mit.edu 37 19 22364141 22364141 + Silent SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:22364141T>C ENST00000397121.2 - 3 695 c.378A>G c.(376-378)tcA>tcG p.S126S NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 126 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TGTTTGAATTTGAACATTTAT 0.328000 54 74 0 0 0.000781405 0 0 LRRC28 123355 broad.mit.edu 37 15 99892588 99892588 + Nonsense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:99892588C>T ENST00000301981.3 + 7 847 c.607C>T c.(607-609)Cga>Tga p.R203* LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000422500.2_Nonsense_Mutation_p.R134*|LRRC28_ENST00000447360.2_Nonsense_Mutation_p.R203*|LRRC28_ENST00000558879.1_Intron NM_144598.2 NP_653199.2 Q86X40 LRC28_HUMAN leucine rich repeat containing 28 203 endometrium(2)|large_intestine(3)|lung(6)|prostate(1) 12 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) AGGTCGATCTCGAGAACTACA 0.353000 62 78 0 0 0.000781405 0 0 GABRG2 2566 broad.mit.edu 37 5 161580099 161580099 + Splice_Site SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:161580099G>A ENST00000356592.3 + 10 1613 c.1152_splice c.e10-1 p.A385_splice GABRG2_ENST00000393933.4_Splice_Site_p.A282_splice|GABRG2_ENST00000361925.4_Splice_Site_p.A377_splice|GABRG2_ENST00000414552.2_Splice_Site_p.A425_splice NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 377 Missing (in Ref. 4; no nucleotide entry). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) CTCGTCCCAGGCCCCTACCAT 0.458000 18 38 0 0 0.000958276 0 0 SHROOM4 57477 broad.mit.edu 37 X 50376392 50376392 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:50376392C>T ENST00000376020.2 - 4 2706 c.2681G>A c.(2680-2682)gGa>gAa p.G894E SHROOM4_ENST00000289292.7_Missense_Mutation_p.G894E|SHROOM4_ENST00000460112.3_Missense_Mutation_p.G778E NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 894 Cys-rich. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) GACTAGAGCTCCTTGAACACT 0.448000 17 28 0 0 0.000422831 0 0 LOC101928215 101928215 broad.mit.edu 37 16 29115586 29115586 + RNA SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:29115586C>T ENST00000562618.1 - 0 1231 RRN3P2_ENST00000564580.1_RNA gggtgtaatccccacactgta 0.483000 3 7 0 0 6.4e-05 0 0 EHD2 30846 broad.mit.edu 37 19 48244619 48244619 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:48244619G>A ENST00000263277.3 + 6 1813 c.1562G>A c.(1561-1563)gGg>gAg p.G521E EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Missense_Mutation_p.G385E NM_014601.3 NP_055416.2 Q9NZN4 EHD2_HUMAN EH-domain containing 2 521 EH. blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 19 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) GAAGGCCACGGGCTGCCCGCC 0.697000 5 10 0 0 0.000602214 0 0 COL7A1 1294 broad.mit.edu 37 3 48624701 48624701 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:48624701C>T ENST00000328333.8 - 23 3168 c.3061G>A c.(3061-3063)Ggc>Agc p.G1021S COL7A1_ENST00000454817.1_Missense_Mutation_p.G1021S NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1021 Fibronectin type-III 9.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TAAGAGACGCCAGGCTCTAGC 0.577000 11 10 0 0 0.000673444 0 0 MCU 90550 broad.mit.edu 37 10 74619034 74619034 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:74619034C>T ENST00000536019.1 + 3 618 c.173C>T c.(172-174)tCt>tTt p.S58F MCU_ENST00000373053.3_Missense_Mutation_p.S107F|MCU_ENST00000357157.6_Missense_Mutation_p.S107F NM_001270680.1 NP_001257609.1 Q8NE86 MCU_HUMAN mitochondrial calcium uniporter 107 elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 14 ATCTCTGACTCTGTTGGTGTA 0.428000 27 25 0 0 0.00127121 0 0 RCAN1 1827 broad.mit.edu 37 21 35893825 35893825 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr21:35893825G>A ENST00000481448.1 - 4 1014 c.528C>T c.(526-528)ctC>ctT p.L176L RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000443408.2_Silent_p.L51L|RCAN1_ENST00000487990.1_Silent_p.L51L|RCAN1_ENST00000482533.1_Silent_p.L51L|RCAN1_ENST00000313806.4_Silent_p.L186L|RCAN1_ENST00000381132.2_Silent_p.L131L|RCAN1_ENST00000399272.1_Silent_p.L105L|RCAN1_ENST00000381135.3_Silent_p.L176L P53805 RCAN1_HUMAN regulator of calcineurin 1 186 blood circulation|calcium-mediated signaling|central nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 TGGCATATAAGAGATCATAGT 0.597000 160 227 0 0 0.000781405 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010865 59010865 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:59010865G>A ENST00000263093.2 - 7 1770 c.1661C>T c.(1660-1662)aCc>aTc p.T554I SLC27A5_ENST00000601355.1_Missense_Mutation_p.T470I NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 554 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity p.T554I(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) GGACCGGAAGGTGTCCCCGAG 0.657000 19 25 0 0 0.000375601 0 0 TMEM108 66000 broad.mit.edu 37 3 133099320 133099320 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:133099320G>A ENST00000515826.1 + 3 888 c.765G>A c.(763-765)gcG>gcA p.A255A TMEM108_ENST00000321871.6_Silent_p.A255A|TMEM108_ENST00000393130.3_Silent_p.A255A|TMEM108_ENST00000508711.1_Intron Q6UXF1 TM108_HUMAN transmembrane protein 108 255 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 CAGTGGCTGCGACCACAGTGC 0.647000 9 23 0 0 0.000442599 0 0 ABRA 137735 broad.mit.edu 37 8 107773671 107773671 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:107773671C>T ENST00000311955.3 - 2 794 c.740G>A c.(739-741)gGg>gAg p.G247E NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 247 Interaction with actin (By similarity). positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) CTGCCATCTCCCTTTCAAGTT 0.468000 34 57 0 0 0.00058488 0 0 C5orf49 134121 broad.mit.edu 37 5 7835598 7835598 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:7835598G>A ENST00000399810.2 - 2 629 c.161C>T c.(160-162)tCc>tTc p.S54F C5orf49_ENST00000509627.1_Missense_Mutation_p.S54F NM_001089584.2 NP_001083053.1 A4QMS7 CE049_HUMAN chromosome 5 open reading frame 49 54 large_intestine(3)|lung(5)|skin(1) 9 ATCATAGAGGGAAATAATTCC 0.428000 23 35 0 0 0.000586117 0 0 MYH6 4624 broad.mit.edu 37 14 23865960 23865960 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:23865960C>T ENST00000405093.3 - 19 2305 c.2235G>A c.(2233-2235)gaG>gaA p.E745E MYH6_ENST00000356287.3_Silent_p.E745E NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 745 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TGAGCAGCTTCTCTGTCCCCT 0.562000 23 35 0 0 0.000720815 0 0 MAP3K19 80122 broad.mit.edu 37 2 135779399 135779399 + Splice_Site SNP T T G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:135779399T>G ENST00000375845.3 - 2 54 c.22_splice c.e2-1 p.E8_splice MAP3K19_ENST00000392918.3_Splice_Site_p.E8_splice|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Splice_Site_p.E8_splice|MAP3K19_ENST00000392917.3_Splice_Site_p.E8_splice|MAP3K19_ENST00000392915.1_Splice_Site_p.E25_splice|MAP3K19_ENST00000375844.3_Splice_Site_p.E8_splice NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 CAGCATGTCTTTCTATCAAAA 0.328000 22 49 0 0 0.000229342 0 0 ZNF473 25888 broad.mit.edu 37 19 50550097 50550097 + Silent SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:50550097A>G ENST00000595661.1 + 6 2892 c.2397A>G c.(2395-2397)gcA>gcG p.A799A ZNF473_ENST00000270617.3_Silent_p.A799A|ZNF473_ENST00000445728.3_Silent_p.A787A|ZNF473_ENST00000391821.2_Silent_p.A799A|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA Q8WTR7 ZN473_HUMAN zinc finger protein 473 799 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) CCCAGAAAGCAAATCTAACAC 0.507000 OREG0025632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 32 0 0 0.000151284 0 0 SLC7A3 84889 broad.mit.edu 37 X 70148084 70148084 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:70148084C>T ENST00000374299.3 - 5 875 c.731G>A c.(730-732)gGa>gAa p.G244E SLC7A3_ENST00000298085.4_Missense_Mutation_p.G244E Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 244 cellular nitrogen compound metabolic process integral to membrane|plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) AGGCACAAATCCTCCAGAGCC 0.493000 6 15 0 0 0.000157383 0 0 ZNF831 128611 broad.mit.edu 37 20 57829535 57829535 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:57829535C>T ENST00000371030.2 + 5 4771 c.4771C>T c.(4771-4773)Cct>Tct p.P1591S NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1591 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GACGTTTTTTCCTTCCAGAGG 0.478000 38 45 0 0 0.00111076 0 0 ELN 2006 broad.mit.edu 37 7 73474215 73474215 + Missense_Mutation SNP G G T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:73474215G>T ENST00000358929.4 + 24 1610 c.1519G>T c.(1519-1521)Ggg>Tgg p.G507W ELN_ENST00000320399.6_Splice_Site|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000380562.4_Missense_Mutation_p.G478W|ELN_ENST00000414324.1_Splice_Site|ELN_ENST00000252034.7_Splice_Site|ELN_ENST00000380575.4_Splice_Site|ELN_ENST00000380576.5_Splice_Site|ELN_ENST00000320492.7_Splice_Site|ELN_ENST00000357036.5_Splice_Site|ELN_ENST00000458204.1_Splice_Site|ELN_ENST00000429192.1_Splice_Site|ELN_ENST00000445912.1_Splice_Site|ELN_ENST00000380584.4_Splice_Site|ELN_ENST00000380553.4_Splice_Site P15502 ELN_HUMAN elastin 501 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) CAATCTTGCAGGGTTAGTTCC 0.567000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 9 319 0.000442599 0.00247909 0.000442599 1 0 AMER3 205147 broad.mit.edu 37 2 131519914 131519914 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:131519914G>A ENST00000423981.1 + 2 379 c.269G>A c.(268-270)cGa>cAa p.R90Q AMER3_ENST00000321420.4_Missense_Mutation_p.R90Q NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 AAACCGGTGCGAAAGTGCAAG 0.662000 5 13 0 0 0.000602214 0 0 LPHN2 23266 broad.mit.edu 37 1 82408771 82408771 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:82408771C>T ENST00000370728.1 + 8 1161 c.516C>T c.(514-516)ttC>ttT p.F172F LPHN2_ENST00000319517.6_Silent_p.F172F|LPHN2_ENST00000370721.1_Silent_p.F176F|LPHN2_ENST00000359929.3_Silent_p.F172F|LPHN2_ENST00000370723.1_Silent_p.F172F|LPHN2_ENST00000370725.1_Silent_p.F172F|LPHN2_ENST00000370715.1_Silent_p.F172F|LPHN2_ENST00000370727.1_Silent_p.F172F|LPHN2_ENST00000370713.1_Silent_p.F172F|LPHN2_ENST00000370730.1_Silent_p.F172F|LPHN2_ENST00000271029.4_Silent_p.F172F|LPHN2_ENST00000335786.5_Silent_p.F172F|LPHN2_ENST00000370717.2_Silent_p.F172F|LPHN2_ENST00000394879.1_Silent_p.F172F|LPHN2_ENST00000469377.2_Intron O95490 LPHN2_HUMAN latrophilin 2 172 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AAATTTATTTCATGCCCTGGA 0.398000 25 34 0 0 0.000375601 0 0 NLRP13 126204 broad.mit.edu 37 19 56419288 56419288 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:56419288C>T ENST00000588751.1 - 7 2341 c.2317G>A c.(2317-2319)Gac>Aac p.D773N NLRP13_ENST00000342929.3_Missense_Mutation_p.D773N Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 773 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) ATAATGAGGTCCTGCAGAACC 0.512000 33 61 0 0 0.000953801 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967587 41967587 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:41967587A>T ENST00000298919.7 + 10 2614 c.2226A>T c.(2224-2226)aaA>aaT p.K742N PDZRN4_ENST00000402685.2_Missense_Mutation_p.K1002N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.K744N Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 1002 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GAAACAAGAAAATTTTGGACA 0.463000 13 31 0 0 0.000151284 0 0 LRGUK 136332 broad.mit.edu 37 7 133943058 133943058 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:133943058C>T ENST00000285928.2 + 19 2317 c.2248C>T c.(2248-2250)Ccg>Tcg p.P750S NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 750 ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 TCGGTTCTGTCCGTGGTCAAA 0.458000 66 59 0 0 0.000781405 0 0 MCTP2 55784 broad.mit.edu 37 15 94983482 94983482 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:94983482C>T ENST00000357742.4 + 17 2163 c.2163C>T c.(2161-2163)ttC>ttT p.F721F MCTP2_ENST00000451018.3_Intron NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 721 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TCTACAATTTCATCAGACCTG 0.403000 53 83 0 0 0.000781405 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110464981 110464981 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:110464981C>T ENST00000378402.5 + 43 6646 c.6542C>T c.(6541-6543)tCc>tTc p.S2181F NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2181 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GATGCCTGGTCCTCCAATTTC 0.388000 HNSCC(38;0.096) 7 9 0 0 0.000274275 0 0 SP7 121340 broad.mit.edu 37 12 53722232 53722232 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:53722232C>T ENST00000536324.2 - 3 1277 c.994G>A c.(994-996)Ggc>Agc p.G332S SP7_ENST00000537210.2_Missense_Mutation_p.G314S|SP7_ENST00000303846.3_Missense_Mutation_p.G332S NM_001173467.1 NP_001166938.1 Q8TDD2 SP7_HUMAN Sp7 transcription factor 332 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 14 AACCTCTTGCCGCAGAAGAGC 0.617000 12 32 0 0 0.000151284 0 0 MYLK3 91807 broad.mit.edu 37 16 46774025 46774025 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:46774025G>A ENST00000394809.4 - 2 627 c.512C>T c.(511-513)cCa>cTa p.P171L MYLK3_ENST00000536476.1_5'UTR NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 171 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) CACATGCTTTGGTTTTCCTCC 0.453000 50 63 0 0 0.000781405 0 0 ACKR3 57007 broad.mit.edu 37 2 237489792 237489792 + Silent SNP C C T rs143420114 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:237489792C>T ENST00000272928.3 + 2 994 c.684C>T c.(682-684)atC>atT p.I228I NM_020311.2 NP_064707.1 atypical chemokine receptor 3 TCTCCATTATCGCTGTCTTCT 0.577000 28 40 0 0 0.00106085 0 0 ANKRD20A11P 391267 broad.mit.edu 37 21 15352093 15352093 + RNA SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr21:15352093C>T ENST00000344693.5 - 0 665 NR_027270.1 TCCGCGGCGTCGCCCTTGACA 0.667000 14 15 0 0 0.000422831 0 0 ZPBP 11055 broad.mit.edu 37 7 50070802 50070802 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:50070802A>T ENST00000046087.2 - 5 661 c.592T>A c.(592-594)Tta>Ata p.L198I ZPBP_ENST00000419417.1_Missense_Mutation_p.L197I|ZPBP_ENST00000491129.1_Intron NM_001159878.1|NM_007009.2 NP_001153350.1|NP_008940.2 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein 198 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) AGTTTGCTTAAAATCTGAAGA 0.353000 47 96 0 0 0.000781405 0 0 MED12L 116931 broad.mit.edu 37 3 150911442 150911442 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:150911442C>T ENST00000474524.1 + 14 2172 c.2134C>T c.(2134-2136)Cct>Tct p.P712S MED12L_ENST00000273432.4_Missense_Mutation_p.P572S|MED12L_ENST00000422248.2_Missense_Mutation_p.P712S|MED12L_ENST00000309237.4_Missense_Mutation_p.P747S NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 712 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AACACATTTTCCTATACCTCT 0.338000 37 49 0 0 0.000374591 0 0 PTPN13 5783 broad.mit.edu 37 4 87724993 87724993 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:87724993C>T ENST00000436978.1 + 43 7132 c.6652C>T c.(6652-6654)Cct>Tct p.P2218S PTPN13_ENST00000511467.1_Missense_Mutation_p.P2218S|PTPN13_ENST00000411767.2_Missense_Mutation_p.P2213S|PTPN13_ENST00000316707.6_Missense_Mutation_p.P2022S|PTPN13_ENST00000427191.2_Missense_Mutation_p.P2194S NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 2213 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity p.P2218T(1) NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TCAAGGAATTCCTTCTAAGGA 0.443000 44 21 0 0 0.000781405 0 0 C5AR1 728 broad.mit.edu 37 19 47823574 47823574 + Missense_Mutation SNP G G C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:47823574G>C ENST00000355085.3 + 2 562 c.540G>C c.(538-540)gaG>gaC p.E180D NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 180 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) TCCGGGAGGAGTACTTTCCAC 0.647000 46 79 0 0 0.000781405 0 0 RASEF 158158 broad.mit.edu 37 9 85640753 85640753 + Missense_Mutation SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:85640753T>C ENST00000376447.3 - 2 775 c.515A>G c.(514-516)aAc>aGc p.N172S NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 172 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 ACGGATGAAGTTCTTTATAAC 0.393000 57 37 0 0 0.000781405 0 0 NPHP4 261734 broad.mit.edu 37 1 5964795 5964795 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:5964795G>A ENST00000378156.4 - 16 2290 c.2025C>T c.(2023-2025)ttC>ttT p.F675F NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 675 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) TTGCGGGTGGGAAGCGGTAGA 0.597000 30 52 0 0 0.000953801 0 0 RFTN1 23180 broad.mit.edu 37 3 16411787 16411787 + Splice_Site SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:16411787C>T ENST00000334133.4 - 6 1099 c.e6-1 RFTN1_ENST00000483671.1_Splice_Site|RFTN1_ENST00000432519.1_Splice_Site NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 plasma membrane central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 ATCTCCATTTCTGTTGGGATT 0.448000 73 45 0 0 0.000781405 0 0 DNAH2 146754 broad.mit.edu 37 17 7668873 7668873 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:7668873C>T ENST00000572933.1 + 21 4961 c.3501C>T c.(3499-3501)ttC>ttT p.F1167F DNAH2_ENST00000389173.2_Silent_p.F1167F Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1167 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGGAAGATTTCGAATTCAAAG 0.483000 21 41 0 0 0.00047179 0 0 MCF2L 23263 broad.mit.edu 37 13 113714954 113714954 + Silent SNP G G A rs141848502 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr13:113714954G>A ENST00000397030.1 + 5 553 c.516G>A c.(514-516)acG>acA p.T172T MCF2L_ENST00000375597.4_Silent_p.T137T|MCF2L_ENST00000423482.2_Silent_p.T137T|MCF2L_ENST00000442652.2_Silent_p.T169T|MCF2L_ENST00000375604.2_Silent_p.T196T|MCF2L_ENST00000535094.2_Silent_p.T139T|MCF2L_ENST00000434480.2_Silent_p.T145T|MCF2L_ENST00000375608.3_Silent_p.T169T|MCF2L_ENST00000421756.1_Silent_p.T143T|MCF2L_ENST00000375601.3_Silent_p.T143T O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 169 CRAL-TRIO. 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) TTCGCCCGACGGGTTTTTTCC 0.572000 18 9 0 0 0.000958276 0 0 CCR3 1232 broad.mit.edu 37 3 46307148 46307148 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:46307148C>T ENST00000357422.2 + 4 1042 c.499C>T c.(499-501)Cct>Tct p.P167S CCR3_ENST00000395942.2_Missense_Mutation_p.P167S|CCR3_ENST00000395940.2_Missense_Mutation_p.P167S|CCR3_ENST00000545097.1_Missense_Mutation_p.P188S|CCR3_ENST00000541018.1_Missense_Mutation_p.P167S P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 167 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) AGCAGCTCTTCCTGAATTTAT 0.498000 29 45 0 0 0.00127121 0 0 FAM83B 222584 broad.mit.edu 37 6 54804969 54804969 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:54804969C>T ENST00000306858.7 + 5 1316 c.1200C>T c.(1198-1200)ctC>ctT p.L400L NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 400 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TGCCATACCTCCTGCTTAATA 0.443000 35 51 0 0 0.00128727 0 0 RNF40 9810 broad.mit.edu 37 16 30777523 30777523 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:30777523C>T ENST00000324685.6 + 9 1468 c.1033C>T c.(1033-1035)Ctg>Ttg p.L345L RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Intron|RNF40_ENST00000563683.1_Intron NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586.1 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 345 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) AAACCAGGAACTGGCCAACAG 0.602000 26 59 0 0 0.000586117 0 0 HDAC9 9734 broad.mit.edu 37 7 18705909 18705909 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:18705909G>A ENST00000406451.3 + 12 1682 c.1532G>A c.(1531-1533)gGg>gAg p.G511E HDAC9_ENST00000417496.2_Missense_Mutation_p.G509E|HDAC9_ENST00000428307.2_Missense_Mutation_p.G467E|HDAC9_ENST00000405010.3_Missense_Mutation_p.G511E|HDAC9_ENST00000406072.1_Missense_Mutation_p.G498E|HDAC9_ENST00000401921.1_Missense_Mutation_p.G470E|HDAC9_ENST00000524023.1_Missense_Mutation_p.G434E|HDAC9_ENST00000432645.2_Missense_Mutation_p.G511E|HDAC9_ENST00000441542.2_Missense_Mutation_p.G514E|HDAC9_ENST00000456174.2_Missense_Mutation_p.G483E NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 511 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GAGCTTCAGGGGGACCAGGCG 0.532000 OREG0017877 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 100 0 0 0.000409698 0 0 PLEC 5339 broad.mit.edu 37 8 145001455 145001455 + Nonsense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:145001455G>A ENST00000322810.4 - 28 4385 c.4216C>T c.(4216-4218)Cag>Tag p.Q1406* PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q1269*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q1296*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q1255*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q1269*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q1273*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q1247*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q1292*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q1237* NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1406 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCAAACCTCTGGCACTCCTCG 0.667000 35 78 0 0 0.00148497 0 0 ZNF708 7562 broad.mit.edu 37 19 21476864 21476864 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:21476864G>A ENST00000356929.3 - 4 1101 c.904C>T c.(904-906)Cat>Tat p.H302Y NM_021269.2 NP_067092.2 P17019 ZN708_HUMAN zinc finger protein 708 302 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H302Y(1) breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1) 32 TCTCCAGTATGAATTTTCTTG 0.378000 12 21 0 0 0.000978159 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140769813 140769813 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:140769813C>T ENST00000519479.1 + 1 2362 c.2362C>T c.(2362-2364)Cca>Tca p.P788S PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCCTTATTTCCACTTTGTAA 0.383000 46 118 0 0 0.000680045 0 0 CCDC144CP 348254 broad.mit.edu 37 17 20224893 20224893 + RNA SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:20224893C>T ENST00000580225.1 + 0 105 CCDC144CP_ENST00000340196.4_RNA ACAGAGCTGCCCGGTCGGGCG 0.622000 56 123 0 0 0.000781405 0 0 LPCAT2 54947 broad.mit.edu 37 16 55584910 55584910 + Missense_Mutation SNP G G T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:55584910G>T ENST00000262134.5 + 11 1295 c.1111G>T c.(1111-1113)Gcg>Tcg p.A371S NM_017839.4 NP_060309.2 Q7L5N7 PCAT2_HUMAN lysophosphatidylcholine acyltransferase 2 371 cellular membrane organization|platelet activating factor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 12 TGCATCTATTGCGAGTTCCTC 0.348000 37 60 6.53348e-20 3.70714e-19 0.000692331 1 0 ALOX12B 242 broad.mit.edu 37 17 7989457 7989457 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:7989457A>T ENST00000319144.4 - 2 489 c.229T>A c.(229-231)Ttc>Atc p.F77I NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 77 PLAT. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 TCCTTGGGGAAGAAGGCGTAC 0.592000 Multiple Myeloma(8;0.094) 12 27 0 0 0.000978159 0 0 ZNF578 147660 broad.mit.edu 37 19 53015010 53015010 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:53015010A>T ENST00000421239.2 + 6 1620 c.1376A>T c.(1375-1377)gAa>gTa p.E459V CTD-3099C6.5_ENST00000599143.1_RNA NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 234 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) AAATGTGAAGAATGTGACAGA 0.383000 27 35 0 0 0.00106085 0 0 ZNF664 144348 broad.mit.edu 37 12 124497284 124497284 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:124497284C>T ENST00000539644.1 + 6 2423 c.593C>T c.(592-594)cCc>cTc p.P198L ZNF664_ENST00000337815.4_Missense_Mutation_p.P198L|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000392404.3_Missense_Mutation_p.P198L|ZNF664_ENST00000538932.2_Missense_Mutation_p.P198L Q8N3J9 ZN664_HUMAN zinc finger protein 664 198 P -> H (in Ref. 4; AAH51696). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(5)|lung(6)|skin(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249) GGAGAGAAACCCTATAGATGT 0.498000 23 37 0 0 0.000375601 0 0 SLC7A8 23428 broad.mit.edu 37 14 23635597 23635597 + Missense_Mutation SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:23635597T>C ENST00000316902.7 - 2 1029 c.304A>G c.(304-306)Aaa>Gaa p.K102E SLC7A8_ENST00000469263.1_Missense_Mutation_p.K102E NM_012244.3 NP_036376.2 Q9UHI5 LAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 8 102 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) CCTCCAGATTTGGGGATGGTG 0.542000 41 85 0 0 0.000589545 0 0 KMT2A 4297 broad.mit.edu 37 11 118375900 118375900 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:118375900C>T ENST00000534358.1 + 27 9316 c.9293C>T c.(9292-9294)cCa>cTa p.P3098L KMT2A_ENST00000354520.4_Missense_Mutation_p.P3057L|KMT2A_ENST00000389506.5_Missense_Mutation_p.P3095L NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A p.P3095Q(1) CAAACTCTTCCAAATGGAGTG 0.473000 45 23 0 0 0.000781405 0 0 EFTUD2 9343 broad.mit.edu 37 17 42934475 42934475 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:42934475G>A ENST00000426333.2 - 20 2310 c.2013C>T c.(2011-2013)tcC>tcT p.S671S EFTUD2_ENST00000402521.3_Silent_p.S636S|EFTUD2_ENST00000592576.1_Silent_p.S661S|EFTUD2_ENST00000591382.1_Silent_p.S671S NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 671 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) AGCACTTGAGGGAGGATGTTT 0.488000 36 44 0 0 0.000437636 0 0 LPAR4 2846 broad.mit.edu 37 X 78011169 78011169 + Missense_Mutation SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:78011169T>C ENST00000435339.2 + 2 1208 c.803T>C c.(802-804)gTc>gCc p.V268A LPAR4_ENST00000373301.2_Missense_Mutation_p.V268A NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 268 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TACAACTCTGTCCTCTTCTTG 0.413000 17 25 0 0 0.000422831 0 0 LARP1 23367 broad.mit.edu 37 5 154190829 154190829 + Nonsense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:154190829C>T ENST00000336314.4 + 17 2659 c.2635C>T c.(2635-2637)Cga>Tga p.R879* NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 956 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GTGCCTTTTTCGATACTACAG 0.443000 19 34 0 0 0.00121646 0 0 LRCH2 57631 broad.mit.edu 37 X 114422878 114422878 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:114422878G>A ENST00000317135.8 - 2 435 c.405C>T c.(403-405)ccC>ccT p.P135P LRCH2_ENST00000538422.1_Silent_p.P135P NM_020871.3 NP_065922.3 Q5VUJ6 LRCH2_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 2 135 breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 19 ATGTTTCAAGGGGTGCAAATA 0.308000 15 17 0 0 0.000566183 0 0 KIAA1586 57691 broad.mit.edu 37 6 56919312 56919312 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:56919312G>A ENST00000370733.4 + 4 2222 c.2015G>A c.(2014-2016)cGg>cAg p.R672Q KIAA1586_ENST00000545356.1_Missense_Mutation_p.R645Q NM_020931.2 NP_065982.1 Q9HCI6 K1586_HUMAN KIAA1586 672 nucleic acid binding p.R672L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1) 18 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) AATGATTTTCGGGAATTTGTA 0.269000 9 27 0 0 0.000274275 0 0 DSC1 1823 broad.mit.edu 37 18 28728530 28728530 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr18:28728530C>T ENST00000257197.3 - 6 964 c.703G>A c.(703-705)Gat>Aat p.D235N RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.D235N NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 235 Cadherin 1. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TTATCATTATCATCTTCAATT 0.383000 38 50 0 0 0.000814825 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147040616 147040616 + Silent SNP G G A rs149958309 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:147040616G>A ENST00000265272.5 - 3 989 c.522C>T c.(520-522)atC>atT p.I174I JAKMIP2_ENST00000507386.1_Silent_p.I174I|JAKMIP2_ENST00000333010.6_Silent_p.I132I NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 174 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATCTGCTTGGATCATATTGC 0.522000 72 113 0 0 0.000781405 0 0 OR13C2 392376 broad.mit.edu 37 9 107367211 107367211 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:107367211C>T ENST00000542196.1 - 1 740 c.698G>A c.(697-699)gGg>gAg p.G233E NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 TTTGCTTCTCCCCTCGGAAGA 0.413000 35 10 0 0 0.000814825 0 0 SUPT6H 6830 broad.mit.edu 37 17 27011697 27011697 + Nonsense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:27011697C>T ENST00000314616.6 + 18 2606 c.2323C>T c.(2323-2325)Caa>Taa p.Q775* SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.Q775* NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 775 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) GGACGAGAACCAAGGGAAGGG 0.507000 25 43 0 0 0.000720815 0 0 EDAR 10913 broad.mit.edu 37 2 109546615 109546615 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:109546615C>T ENST00000409271.1 - 4 578 c.135G>A c.(133-135)caG>caA p.Q45Q EDAR_ENST00000376651.1_Silent_p.Q45Q|EDAR_ENST00000258443.2_Silent_p.Q45Q Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 45 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 GGGGGCACTCCTGGCACAGCC 0.637000 6 16 0 0 0.000157383 0 0 OASL 8638 broad.mit.edu 37 12 121469308 121469308 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:121469308G>A ENST00000257570.5 - 3 864 c.594C>T c.(592-594)ttC>ttT p.F198F OASL_ENST00000339275.5_Silent_p.F198F NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 198 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GATGTTTCACGAAATTTCTCT 0.587000 108 198 0 0 0.000781405 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12836088 12836088 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:12836088G>A ENST00000357726.4 + 2 717 c.690G>A c.(688-690)agG>agA p.R230R NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 230 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCCAGATGAGGAATCTCCGCA 0.522000 36 51 0 0 0.00148497 0 0 A2M 2 broad.mit.edu 37 12 9266120 9266120 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:9266120G>A ENST00000318602.7 - 2 413 c.106C>T c.(106-108)Ccc>Tcc p.P36S NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 36 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) AGCAGGGAGGGGACCAGAACC 0.493000 28 48 0 0 0.000491102 0 0 RYR3 6263 broad.mit.edu 37 15 33840366 33840366 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:33840366G>A ENST00000389232.4 + 9 846 c.776G>A c.(775-777)cGa>cAa p.R259Q RYR3_ENST00000415757.3_Missense_Mutation_p.R259Q NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 259 MIR 3. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCTGGGACTCGAGCCAGGTCT 0.512000 7 23 0 0 0.000157383 0 0 DNAH17 8632 broad.mit.edu 37 17 76449483 76449483 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:76449483C>T ENST00000389840.5 - 65 10553 c.10429G>A c.(10429-10431)Gaa>Aaa p.E3477K DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.E3486K dynein, axonemal, heavy chain 17 p.E3486K(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCCACGGTTTCGCCGATGTTC 0.562000 7 14 0 0 8.12818e-05 0 0 RFX4 5992 broad.mit.edu 37 12 107126816 107126816 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:107126816C>T ENST00000392842.1 + 15 2000 c.1586C>T c.(1585-1587)tCc>tTc p.S529F RP11-482D24.3_ENST00000552415.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.S435F|RFX4_ENST00000357881.4_Missense_Mutation_p.S538F NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 529 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 CCTCCCTCTTCCCCTGTTAGC 0.498000 41 63 0 0 0.000680045 0 0 DCAF16 54876 broad.mit.edu 37 4 17805353 17805353 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:17805353G>A ENST00000382247.1 - 3 1472 c.412C>T c.(412-414)Cat>Tat p.H138Y DCAF16_ENST00000536863.1_Missense_Mutation_p.H138Y NM_017741.3 NP_060211.3 Q9NXF7 DCA16_HUMAN DDB1 and CUL4 associated factor 16 138 CUL4 RING ubiquitin ligase complex cervix(1)|endometrium(1)|lung(2)|ovary(1) 5 AGAGTGGCATGATCTCTAGAG 0.498000 69 177 0 0 0.000781405 0 0 IQCD 115811 broad.mit.edu 37 12 113645327 113645327 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:113645327G>A ENST00000546692.1 - 2 1018 c.645C>T c.(643-645)atC>atT p.I215I IQCD_ENST00000299732.2_Silent_p.I215I|IQCD_ENST00000416617.2_Silent_p.I215I Q96DY2 IQCD_HUMAN IQ motif containing D 215 endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 TCTGTCTACTGATATCCTGTA 0.398000 25 53 0 0 0.000586117 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110029688 110029688 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:110029688C>T ENST00000369870.3 + 4 373 c.358C>T c.(358-360)Cct>Tct p.P120S NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 120 breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) ACCTCCAGCCCCTGCCAGCTC 0.592000 84 150 0 0 0.000781405 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39717188 39717188 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:39717188C>T ENST00000553728.1 + 4 1623 c.1410C>T c.(1408-1410)ttC>ttT p.F470F MIA2_ENST00000280082.3_Silent_p.F470F|MIA2_ENST00000556784.1_Silent_p.F469F CTTGGAACTTCCAGAACATTC 0.318000 43 65 0 0 0.000781405 0 0 BRSK2 9024 broad.mit.edu 37 11 1432786 1432786 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:1432786C>T ENST00000382179.1 + 1 405 c.152C>T c.(151-153)cCc>cTc p.P51L BRSK2_ENST00000308230.5_Intron|BRSK2_ENST00000531197.1_Intron|BRSK2_ENST00000526678.1_Intron|BRSK2_ENST00000528841.1_Intron|BRSK2_ENST00000308219.9_Intron|BRSK2_ENST00000528710.1_Intron NM_001256630.1 NP_001243559.1 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 16 Protein kinase. establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(1)|lung(5) 10 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) GGCCACACTCCCGGCCCACAG 0.692000 6 3 0 0 0.00116845 0 0 KRT85 3891 broad.mit.edu 37 12 52760977 52760977 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:52760977G>A ENST00000257901.3 - 1 288 c.213C>T c.(211-213)ttC>ttT p.F71F NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 71 Head. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) AGCCGGCTCGGAAGCCACCTA 0.701000 11 21 0 0 0.000978159 0 0 OR2T4 127074 broad.mit.edu 37 1 248525707 248525707 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:248525707C>T ENST00000366475.1 + 1 825 c.825C>T c.(823-825)tcC>tcT p.S275S NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCTGCTCCTCCCACCTGACTG 0.537000 41 116 0 0 0.000509022 0 0 CRB1 23418 broad.mit.edu 37 1 197390429 197390429 + Translation_Start_Site SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:197390429G>A ENST00000367397.1 + 0 472 CRB1_ENST00000538660.1_Missense_Mutation_p.D491N|CRB1_ENST00000544212.1_De_novo_Start_OutOfFrame|CRB1_ENST00000367399.2_Missense_Mutation_p.D379N|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367400.3_Missense_Mutation_p.D491N|CRB1_ENST00000543483.1_Missense_Mutation_p.D190N|CRB1_ENST00000535699.1_Missense_Mutation_p.D422N P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.D491N(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 ATTTGAGGGCGATGGCTTCCT 0.517000 21 40 0 0 0.00121646 0 0 TMEM35 59353 broad.mit.edu 37 X 100349720 100349720 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:100349720C>T ENST00000372930.4 + 2 562 c.279C>T c.(277-279)ttC>ttT p.F93F TMEM35_ENST00000478351.1_3'UTR NM_021637.2 NP_067650.1 Q53FP2 TMM35_HUMAN transmembrane protein 35 93 cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1) 7 CCAACTTCTTCCTACTGTTGC 0.537000 54 94 0 0 0.000781405 0 0 C12orf40 283461 broad.mit.edu 37 12 40114841 40114841 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:40114841G>A ENST00000324616.5 + 13 1901 c.1747G>A c.(1747-1749)Gat>Aat p.D583N NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 583 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 CAAAACCAATGATAACTGCGT 0.398000 23 39 0 0 0.000295444 0 0 HNF1B 6928 broad.mit.edu 37 17 36099441 36099441 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:36099441C>T ENST00000225893.4 - 2 895 c.534G>A c.(532-534)gaG>gaA p.E178E HNF1B_ENST00000427275.2_Silent_p.E178E|HNF1B_ENST00000561193.1_Silent_p.E178E|HNF1B_ENST00000560016.1_Silent_p.E178E NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 178 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) GTCGGAGGATCTCTCGTTGCT 0.542000 124 171 0 0 0.000781405 0 0 OR1G1 8390 broad.mit.edu 37 17 3030567 3030567 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:3030567G>A ENST00000328890.2 - 1 308 c.279C>T c.(277-279)tcC>tcT p.S93S NM_003555.1 NP_003546.1 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, member 1 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 ACCCTGAGTAGGAGATGGCCT 0.483000 21 37 0 0 0.000229342 0 0 PCDHB1 29930 broad.mit.edu 37 5 140432091 140432091 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:140432091G>A ENST00000306549.3 + 1 1113 c.1036G>A c.(1036-1038)Gaa>Aaa p.E346K NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 346 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAATCCTCCCGAAGTGATGGT 0.517000 23 41 0 0 0.000295444 0 0 KIAA0226 9711 broad.mit.edu 37 3 197403774 197403774 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:197403774G>A ENST00000273582.5 - 19 3038 c.2493C>T c.(2491-2493)acC>acT p.T831T KIAA0226_ENST00000296343.5_Silent_p.T876T|KIAA0226_ENST00000389665.5_Silent_p.T901T NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 876 autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) TCTCCACATGGGTAGCCCCTG 0.597000 15 33 0 0 0.00121646 0 0 ANK3 288 broad.mit.edu 37 10 61965560 61965560 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:61965560G>A ENST00000280772.1 - 11 1474 c.1283C>T c.(1282-1284)gCt>gTt p.A428V ANK3_ENST00000503366.1_Missense_Mutation_p.A411V|ANK3_ENST00000373827.2_Missense_Mutation_p.A422V NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 428 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTCGGTTACAGCTTGGATGGA 0.488000 15 10 0 0 0.000958276 0 0 COL5A2 1290 broad.mit.edu 37 2 189943830 189943830 + Missense_Mutation SNP C C T rs142312726 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:189943830C>T ENST00000374866.3 - 15 1238 c.964G>A c.(964-966)Gaa>Aaa p.E322K NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 322 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GGGCCAGCTTCACCCTAAAAA 0.378000 26 34 0 0 0.00178596 0 0 TC2N 123036 broad.mit.edu 37 14 92251698 92251698 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:92251698G>A ENST00000435962.2 - 11 1493 c.1170C>T c.(1168-1170)ttC>ttT p.F390F TC2N_ENST00000340892.5_Silent_p.F390F|TC2N_ENST00000556018.1_Silent_p.F326F|TC2N_ENST00000360594.5_Silent_p.F390F NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 390 C2. nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) CCACCTTCACGAAAAAACCTA 0.323000 82 90 0 0 0.000781405 0 0 BAGE2 85319 broad.mit.edu 37 21 11039407 11039407 + RNA SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr21:11039407C>T ENST00000470054.1 - 0 796 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CATTAGAAATCTGTTTTTCCA 0.299000 12 148 0 0 0.000978159 0 0 LVRN 206338 broad.mit.edu 37 5 115336900 115336900 + Missense_Mutation SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:115336900T>C ENST00000357872.4 + 10 1908 c.1784T>C c.(1783-1785)cTt>cCt p.L595P AQPEP_ENST00000395528.2_Missense_Mutation_p.L112P NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 595 proteolysis integral to membrane metallopeptidase activity|zinc ion binding CCATTTTATCTTGAAAACATT 0.413000 38 79 0 0 0.000509022 0 0 TSPEAR 54084 broad.mit.edu 37 21 45929219 45929219 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr21:45929219G>A ENST00000323084.4 - 10 1682 c.1617C>T c.(1615-1617)ttC>ttT p.F539F TSPEAR_ENST00000397916.1_Silent_p.F471F|TSPEAR-AS1_ENST00000451035.1_RNA NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 539 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 CCACAGCGAGGAAGATCCTCT 0.572000 4 9 0 0 0.00024832 0 0 POM121 9883 broad.mit.edu 37 7 72413539 72413539 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:72413539C>T ENST00000395270.1 + 14 3253 c.2212C>T c.(2212-2214)Ccg>Tcg p.P738S POM121_ENST00000358357.3_Missense_Mutation_p.P738S|POM121_ENST00000257622.4_Missense_Mutation_p.P738S|POM121_ENST00000446813.1_Missense_Mutation_p.P738S|POM121_ENST00000434423.2_Missense_Mutation_p.P1003S NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1003 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CTCTGCAGCCCCGGCTGCTGC 0.657000 31 110 0 0 0.000953801 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43817684 43817684 + Missense_Mutation SNP A A C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:43817684A>C ENST00000553158.1 - 29 4327 c.4328T>G c.(4327-4329)tTg>tGg p.L1443W ADAMTS20_ENST00000389420.3_Intron|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.L561W P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 0 TSP type-1 11. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TAGTTCCCACAAGATGATGGT 0.338000 6 7 0 0 8.12818e-05 0 0 ZNF276 92822 broad.mit.edu 37 16 89789072 89789072 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:89789072C>T ENST00000289816.5 + 2 426 c.114C>T c.(112-114)ctC>ctT p.L38L ZNF276_ENST00000568064.1_Silent_p.L38L|ZNF276_ENST00000443381.2_Silent_p.L113L|ZNF276_ENST00000446326.2_5'UTR NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 113 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) AGCGCGTGCTCGTACGGGACT 0.647000 17 36 0 0 0.00121646 0 0 FLT1 2321 broad.mit.edu 37 13 29012394 29012394 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr13:29012394C>T ENST00000282397.4 - 4 728 c.477G>A c.(475-477)cgG>cgA p.R159R FLT1_ENST00000539099.1_Silent_p.R159R|FLT1_ENST00000541932.1_Silent_p.R159R NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 159 Ig-like C2-type 2. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity p.R159R(1) NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GTGACGTAACCCGGCAGGGAA 0.398000 18 28 0 0 0.000566183 0 0 DSG3 1830 broad.mit.edu 37 18 29039874 29039874 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr18:29039874C>T ENST00000257189.4 + 6 667 c.584C>T c.(583-585)gCc>gTc p.A195V NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 195 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TCTAAAATTGCCTTCAAAATT 0.418000 23 39 0 0 0.000586117 0 0 LGALS9B 284194 broad.mit.edu 37 17 20363713 20363713 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:20363713C>T ENST00000423676.3 - 2 146 c.83G>A c.(82-84)gGa>gAa p.G28E LGALS9B_ENST00000324290.5_Missense_Mutation_p.G28E Q3B8N2 LEG9B_HUMAN lectin, galactoside-binding, soluble, 9B 28 Galectin 1. sugar binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 10 GATCTGAAATCCGTCCTGGAG 0.567000 29 69 0 0 0.00128727 0 0 TRIM17 51127 broad.mit.edu 37 1 228596850 228596850 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:228596850C>T ENST00000456946.2 - 6 1281 c.906G>A c.(904-906)agG>agA p.R302R TRIM17_ENST00000366698.2_Intron|TRIM17_ENST00000366697.2_Intron|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000295033.3_Intron NM_001134855.1 NP_001128327.1 Q9Y577 TRI17_HUMAN tripartite motif containing 17 302 B30.2/SPRY. protein autoubiquitination intracellular protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 10 Prostate(94;0.0724) GGTCAGAGGTCCTGGCCCTGG 0.607000 40 51 0 0 0.000374591 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111698523 111698523 + Silent SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:111698523T>C ENST00000340433.2 + 1 797 c.567T>C c.(565-567)gcT>gcC p.A189A NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 189 nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 AGGCACTAGCTGATCCCAACC 0.468000 34 62 0 0 0.000409698 0 0 CCDC102A 92922 broad.mit.edu 37 16 57562891 57562891 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:57562891C>T ENST00000258214.2 - 2 445 c.199G>A c.(199-201)Ggc>Agc p.G67S NM_033212.3 NP_149989.2 Q96A19 C102A_HUMAN coiled-coil domain containing 102A 67 endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 TCCCAGTCGCCGTCGGCCAGC 0.801000 5 4 0 0 0.00116845 0 0 SH2D4B 387694 broad.mit.edu 37 10 82331323 82331323 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:82331323G>A ENST00000339284.2 + 3 914 c.484G>A c.(484-486)Gag>Aag p.E162K SH2D4B_ENST00000470604.2_Missense_Mutation_p.E161K|SH2D4B_ENST00000313455.4_Missense_Mutation_p.E113K NM_207372.2 NP_997255.2 Q5SQS7 SH24B_HUMAN SH2 domain containing 4B 161 Glu-rich. endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6) 13 Colorectal(32;0.229) ACGCATCCACGAGGAATTCAA 0.592000 10 10 0 0 0.000151284 0 0 EMR1 2015 broad.mit.edu 37 19 6908704 6908704 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:6908704C>T ENST00000312053.4 + 10 1080 c.1043C>T c.(1042-1044)tCc>tTc p.S348F EMR1_ENST00000381407.5_Missense_Mutation_p.S207F|EMR1_ENST00000381404.4_Missense_Mutation_p.S296F|EMR1_ENST00000450315.3_Missense_Mutation_p.S171F|EMR1_ENST00000250572.8_Missense_Mutation_p.S348F NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 348 Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) ACGCAGGTCTCCTTTTGTGCA 0.383000 25 47 0 0 0.000878237 0 0 TMEM132D 121256 broad.mit.edu 37 12 130185047 130185047 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:130185047G>A ENST00000422113.2 - 2 602 c.276C>T c.(274-276)gtC>gtT p.V92V NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 92 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TGGCATTGAGGACAGGCAGCC 0.502000 21 32 0 0 0.000295444 0 0 CCR2 729230 broad.mit.edu 37 3 46399601 46399601 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:46399601C>T ENST00000292301.4 + 2 1068 c.583C>T c.(583-585)Cca>Tca p.P195S CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.P195S|CCR2_ENST00000400888.2_Missense_Mutation_p.P195S NM_001123041.2 NP_001116513.2 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 195 astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) CCCTTATTTTCCACGAGGATG 0.453000 134 211 0 0 0.000781405 0 0 ZDHHC9 51114 broad.mit.edu 37 X 128946754 128946754 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:128946754G>A ENST00000357166.6 - 8 1108 c.717C>T c.(715-717)gtC>gtT p.V239V ZDHHC9_ENST00000371064.3_Silent_p.V239V NM_016032.3 NP_057116.2 Q9Y397 ZDHC9_HUMAN zinc finger, DHHC-type containing 9 239 endoplasmic reticulum membrane|Golgi membrane|integral to membrane acyltransferase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 19 TCAGTCCCACGACGGACCAGA 0.458000 62 82 0 0 0.000781405 0 0 ZCCHC17 51538 broad.mit.edu 37 1 31811831 31811831 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:31811831C>T ENST00000373714.1 + 5 514 c.253C>T c.(253-255)Ctc>Ttc p.L85F ZCCHC17_ENST00000479629.1_3'UTR|RP11-266K22.2_ENST00000430143.1_RNA|ZCCHC17_ENST00000422613.2_Missense_Mutation_p.L61F|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.L85F|ZCCHC17_ENST00000546109.1_Missense_Mutation_p.L77F Q9NP64 NO40_HUMAN zinc finger, CCHC domain containing 17 85 S1 motif. nucleolus RNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1) 6 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222) STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168) AAAAGTATCCCTCTCCATGAA 0.343000 17 36 0 0 0.00121646 0 0 OGT 8473 broad.mit.edu 37 X 70779460 70779460 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:70779460C>T ENST00000373719.3 + 14 2001 c.1784C>T c.(1783-1785)cCa>cTa p.P595L OGT_ENST00000373701.3_Missense_Mutation_p.P585L NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 595 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) GCCCTGAGCCCAGACGATGGC 0.403000 9 28 0 0 0.000978159 0 0 BEST3 144453 broad.mit.edu 37 12 70070720 70070720 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:70070720G>A ENST00000330891.5 - 7 1069 c.843C>T c.(841-843)ttC>ttT p.F281F BEST3_ENST00000331471.4_Silent_p.F281F|BEST3_ENST00000553096.1_Silent_p.F175F|BEST3_ENST00000488961.1_Intron|BEST3_ENST00000476098.1_Intron NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 281 chloride channel complex|plasma membrane chloride channel activity p.F281L(1) cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) CATAGAAGAAGAATTGTAGGA 0.478000 43 82 0 0 0.000680045 0 0 B3GNTL1 146712 broad.mit.edu 37 17 80963044 80963044 + Missense_Mutation SNP C C T rs151094014 byFrequency TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:80963044C>T ENST00000576599.1 - 6 868 c.118G>A c.(118-120)Gaa>Aaa p.E40K B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000320865.3_Missense_Mutation_p.E151K Q67FW5 B3GNL_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 151 transferase activity, transferring glycosyl groups endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) GTGTATCGTTCGGTGGAGTTA 0.562000 33 74 0 0 0.00170553 0 0 NUP43 348995 broad.mit.edu 37 6 150059891 150059891 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:150059891G>A ENST00000340413.2 - 5 602 c.526C>T c.(526-528)Cat>Tat p.H176Y NUP43_ENST00000460354.2_Missense_Mutation_p.H176Y|NUP43_ENST00000367403.3_Intron|NUP43_ENST00000367404.4_Intron NM_198887.1 NP_942590.1 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 176 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) GTTACAGCATGGAGTGTACTA 0.343000 39 73 0 0 0.000509022 0 0 AOC1 26 broad.mit.edu 37 7 150558263 150558263 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:150558263C>T ENST00000493429.1 + 7 2806 c.2222C>T c.(2221-2223)cCt>cTt p.P741L AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000467291.1_Missense_Mutation_p.P741L|AOC1_ENST00000416793.2_Missense_Mutation_p.P760L|AOC1_ENST00000360937.4_Missense_Mutation_p.P741L amine oxidase, copper containing 1 ATGCCTCCCCCTTTTAGCTAC 0.602000 10 25 0 0 0.000978159 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767758 77767758 + Silent SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:77767758T>A ENST00000521891.2 + 10 9049 c.8601T>A c.(8599-8601)tcT>tcA p.S2867S ZFHX4_ENST00000455469.2_Silent_p.S2822S|ZFHX4_ENST00000518282.1_Silent_p.S2841S|ZFHX4_ENST00000050961.6_Silent_p.S2822S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2822 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTCTCTTTTCTCTCACAAGCC 0.493000 HNSCC(33;0.089) 13 27 0 0 0.000308642 0 0 ARMC4 55130 broad.mit.edu 37 10 28224181 28224181 + Splice_Site SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:28224181C>T ENST00000305242.5 - 16 2345 c.2252_splice c.e16-1 p.K751_splice ARMC4_ENST00000545014.1_Splice_Site_p.K276_splice|ARMC4_ENST00000537576.1_Splice_Site_p.K443_splice NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 751 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 ATTCCCGAAACCTAAGTTCAT 0.393000 25 15 0 0 0.000586117 0 0 PM20D1 148811 broad.mit.edu 37 1 205811876 205811876 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:205811876C>T ENST00000367136.4 - 7 875 c.831G>A c.(829-831)ttG>ttA p.L277L PM20D1_ENST00000460624.1_5'UTR NM_152491.4 NP_689704.4 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 277 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) GTGTCTGCTCCAATCTGGAAG 0.473000 26 66 0 0 0.00047179 0 0 DNAH8 1769 broad.mit.edu 37 6 38843576 38843576 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:38843576C>T ENST00000359357.3 + 51 7433 c.7179C>T c.(7177-7179)acC>acT p.T2393T DNAH8_ENST00000449981.2_Silent_p.T2610T|DNAH8_ENST00000441566.1_Silent_p.T2357T dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CAAATCAAACCATGTATGAGT 0.353000 14 33 0 0 0.000219431 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356590 37356590 + Missense_Mutation SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:37356590A>G ENST00000217420.1 + 2 1149 c.886A>G c.(886-888)Aag>Gag p.K296E NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 296 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) GGCCTGGGAGAAGGTCAAGTT 0.547000 23 35 0 0 0.00047179 0 0 EFCAB6 64800 broad.mit.edu 37 22 43933267 43933267 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr22:43933267G>A ENST00000262726.7 - 29 4291 c.4038C>T c.(4036-4038)tcC>tcT p.S1346S EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Silent_p.S1194S NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1346 Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) CCAGGAAATCGGAGGCGTTGA 0.572000 75 29 0 0 0.000781405 0 0 DCTN5 84516 broad.mit.edu 37 16 23672571 23672571 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:23672571C>T ENST00000300087.2 + 4 468 c.317C>T c.(316-318)tCc>tTc p.S106F DCTN5_ENST00000563998.1_Missense_Mutation_p.S106F|DCTN5_ENST00000568589.1_Missense_Mutation_p.S106F NM_001199743.1|NM_032486.3 NP_001186672.1|NP_115875.1 Q9BTE1 DCTN5_HUMAN dynactin 5 (p25) 106 centrosome transferase activity endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 10 GBM - Glioblastoma multiforme(48;0.0156) CAGATTGGTTCCTATGTTCAT 0.443000 26 38 0 0 0.000409698 0 0 TGOLN2 10618 broad.mit.edu 37 2 85554604 85554604 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:85554604G>A ENST00000377386.3 - 2 713 c.251C>T c.(250-252)tCg>tTg p.S84L TGOLN2_ENST00000409015.1_Missense_Mutation_p.S84L|TGOLN2_ENST00000398263.2_Missense_Mutation_p.S84L|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409232.3_Missense_Mutation_p.S84L|TGOLN2_ENST00000444342.2_Missense_Mutation_p.S84L O43493 TGON2_HUMAN trans-golgi network protein 2 84 14 X 14 AA tandem repeats. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding CTCCGCACCCGACTTGTTGGG 0.602000 86 156 0 0 0.000781405 0 0 SYVN1 84447 broad.mit.edu 37 11 64900952 64900952 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:64900952G>A ENST00000526060.1 - 2 313 c.121C>T c.(121-123)Ccc>Tcc p.P41S SYVN1_ENST00000294256.8_Missense_Mutation_p.P41S|SYVN1_ENST00000377190.3_Missense_Mutation_p.P41S|SYVN1_ENST00000307289.6_Missense_Mutation_p.P41S Q86TM6 SYVN1_HUMAN synovial apoptosis inhibitor 1, synoviolin 41 ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 GCCATGCTGGGGCTGGACTTG 0.637000 19 13 0 0 0.000295444 0 0 PFAS 5198 broad.mit.edu 37 17 8167625 8167625 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:8167625C>T ENST00000314666.6 + 16 2020 c.1887C>T c.(1885-1887)ctC>ctT p.L629L PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Silent_p.L205L NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 629 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) ACCTGGAGCTCGAATGGGTGC 0.587000 11 14 0 0 0.000978159 0 0 TMEM35 59353 broad.mit.edu 37 X 100349697 100349697 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:100349697C>T ENST00000372930.4 + 2 539 c.256C>T c.(256-258)Ccc>Tcc p.P86S TMEM35_ENST00000478351.1_3'UTR NM_021637.2 NP_067650.1 Q53FP2 TMM35_HUMAN transmembrane protein 35 86 cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1) 7 GCCTGGGCGTCCCAAAGATGT 0.532000 53 99 0 0 0.000781405 0 0 EFCAB6 64800 broad.mit.edu 37 22 43933268 43933268 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr22:43933268G>A ENST00000262726.7 - 29 4290 c.4037C>T c.(4036-4038)tCc>tTc p.S1346F EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.S1194F NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1346 Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) CAGGAAATCGGAGGCGTTGAT 0.567000 74 30 0 0 0.000781405 0 0 SCN10A 6336 broad.mit.edu 37 3 38793755 38793755 + Silent SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:38793755T>C ENST00000449082.2 - 11 1709 c.1710A>G c.(1708-1710)caA>caG p.Q570Q NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 570 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGGGCGGCGGTTGGTGTTCAT 0.597000 36 70 0 0 0.00148497 0 0 FAM20A 54757 broad.mit.edu 37 17 66533797 66533797 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:66533797C>T ENST00000592554.1 - 11 2169 c.1447G>A c.(1447-1449)Gaa>Aaa p.E483K FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron NM_001243746.1|NM_017565.3 NP_001230675.1|NP_060035.2 Q96MK3 FA20A_HUMAN family with sequence similarity 20, member A 483 extracellular region cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1) 9 Breast(10;1.64e-13) AGCTGGTCTTCCAGCAGTGAT 0.527000 9 10 0 0 0.000274275 0 0 ZNF135 7694 broad.mit.edu 37 19 58578608 58578608 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:58578608G>A ENST00000506786.1 + 5 1184 c.630G>A c.(628-630)cgG>cgA p.R210R ZNF135_ENST00000401053.4_Silent_p.R276R|ZNF135_ENST00000359978.6_Silent_p.R264R|ZNF135_ENST00000511556.1_Silent_p.R264R|ZNF135_ENST00000313434.5_Silent_p.R252R|ZNF135_ENST00000439855.2_Silent_p.R252R B4DHH9 B4DHH9_HUMAN zinc finger protein 135 264 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) AAGGCTTCCGGAACAGCTCGG 0.507000 44 67 0 0 0.000680045 0 0 USH2A 7399 broad.mit.edu 37 1 216496976 216496976 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:216496976G>A ENST00000366943.2 - 8 1776 c.1390C>T c.(1390-1392)Cgt>Tgt p.R464C USH2A_ENST00000307340.3_Missense_Mutation_p.R464C|USH2A_ENST00000366942.3_Missense_Mutation_p.R464C O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 464 Laminin N-terminal. R -> C (in USH2A; uncertain pathogenicity). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TATCCAGGACGATAATTTGGT 0.373000 HNSCC(13;0.011) 40 95 0 0 0.000509022 0 0 TINF2 26277 broad.mit.edu 37 14 24710294 24710294 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:24710294G>A ENST00000399423.4 - 5 866 c.536C>T c.(535-537)cCt>cTt p.P179L TINF2_ENST00000558566.1_Intron|TINF2_ENST00000540705.1_Missense_Mutation_p.P144L|TINF2_ENST00000538777.1_Intron|TINF2_ENST00000559019.1_Intron|TINF2_ENST00000267415.7_Missense_Mutation_p.P179L NM_012461.2 NP_036593.2 Q9BSI4 TINF2_HUMAN TERF1 (TRF1)-interacting nuclear factor 2 179 negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter protein binding|telomeric DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(265;0.0185) AGAGACTCCAGGCTGCATCCA 0.517000 Congenital Dyskeratosis;Ataxia Pancytopenia syndrome 51 90 0 0 0.000781405 0 0 TMEM100 55273 broad.mit.edu 37 17 53798413 53798413 + Missense_Mutation SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:53798413T>C ENST00000575734.1 - 4 827 c.19A>G c.(19-21)Aag>Gag p.K7E TMEM100_ENST00000424486.2_Missense_Mutation_p.K7E NM_001099640.1 NP_001093110.1 Q9NV29 TM100_HUMAN transmembrane protein 100 7 integral to membrane cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 11 AGGATCTCCTTGATGGGCTCT 0.502000 38 58 0 0 0.00170553 0 0 OR2G2 81470 broad.mit.edu 37 1 247752599 247752599 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:247752599G>A ENST00000320065.1 + 1 938 c.938G>A c.(937-939)gGa>gAa p.G313E RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 313 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AAGGCTCTGGGAGtaaatatt 0.318000 27 87 0 0 0.000878237 0 0 PACSIN1 29993 broad.mit.edu 37 6 34499429 34499429 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:34499429G>A ENST00000538621.1 + 9 1335 c.1090G>A c.(1090-1092)Gag>Aag p.E364K PACSIN1_ENST00000244458.2_Missense_Mutation_p.E364K|PACSIN1_ENST00000374043.2_Missense_Mutation_p.E322K NM_001199583.1 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 364 endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 GTCAGACGACGAGAGTGGGAA 0.622000 41 85 0 0 0.000781405 0 0 FAM188B 84182 broad.mit.edu 37 7 30921964 30921964 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:30921964C>T ENST00000265299.6 + 16 2217 c.2140C>T c.(2140-2142)Cgg>Tgg p.R714W AQP1_ENST00000509504.1_Missense_Mutation_p.R177W|AQP1_ENST00000434909.2_Missense_Mutation_p.R60W|INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 714 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGAGCAGATCCGGCTGACCAT 0.627000 6 19 0 0 0.00116845 0 0 ZNF502 91392 broad.mit.edu 37 3 44763909 44763909 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:44763909C>T ENST00000296091.4 + 4 1856 c.1600C>T c.(1600-1602)Ctt>Ttt p.L534F ZNF502_ENST00000436624.2_Missense_Mutation_p.L534F|ZNF502_ENST00000449836.1_Missense_Mutation_p.L534F NM_001134440.1|NM_033210.4 NP_001127912.1|NP_149987.2 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 534 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) TAGTTCAGTCCTTTTCAGACA 0.428000 24 46 0 0 0.000878237 0 0 GLYATL2 219970 broad.mit.edu 37 11 58604849 58604849 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:58604849G>A ENST00000287275.1 - 4 598 c.208C>T c.(208-210)Cat>Tat p.H70Y GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.H70Y NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 70 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) TTGGTATAATGATCCTGGTCA 0.373000 28 17 0 0 0.001512 0 0 SLC7A8 23428 broad.mit.edu 37 14 23600687 23600687 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:23600687G>A ENST00000316902.7 - 8 1821 c.1096C>T c.(1096-1098)Cca>Tca p.P366S SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000453702.1_Missense_Mutation_p.P163S|SLC7A8_ENST00000529705.2_Missense_Mutation_p.P261S|SLC7A8_ENST00000422941.2_Missense_Mutation_p.P142S NM_012244.3 NP_036376.2 Q9UHI5 LAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 8 366 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) AGCAGGGCTGGGATTGGGGTG 0.567000 15 40 0 0 0.00074312 0 0 NOS1 4842 broad.mit.edu 37 12 117726024 117726024 + Splice_Site SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:117726024C>T ENST00000317775.6 - 5 1667 c.981_splice c.e5-1 p.E328_splice NOS1_ENST00000338101.4_Splice_Site_p.E328_splice|NOS1_ENST00000344089.3_Splice_Site_p.W346_splice NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 328 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.E328K(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CATCCCGTTTCCTGGAAGATC 0.507000 26 45 0 0 0.001512 0 0 OR7G3 390883 broad.mit.edu 37 19 9236949 9236949 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:9236949C>T ENST00000305444.2 - 1 677 c.678G>A c.(676-678)atG>atA p.M226I NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 ATGGAATTTTCATGACAGAGG 0.423000 54 104 0 0 0.000781405 0 0 DNAH9 1770 broad.mit.edu 37 17 11666769 11666769 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:11666769C>T ENST00000262442.3 + 36 7076 c.7008C>T c.(7006-7008)atC>atT p.I2336I DNAH9_ENST00000454412.2_Silent_p.I2336I NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2336 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.I2336I(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTAAGAAGATCATTCCCATCC 0.498000 45 81 0 0 0.000781405 0 0 BIRC6 57448 broad.mit.edu 37 2 32740598 32740598 + Missense_Mutation SNP G G T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:32740598G>T ENST00000421745.2 + 55 11244 c.11110G>T c.(11110-11112)Ggt>Tgt p.G3704C NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 3704 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) AGATTGGCTTGGTGGTTCTGA 0.418000 5 51 0.000602214 0.00336804 0.000602214 1 0 SPANXN1 494118 broad.mit.edu 37 X 144337235 144337235 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:144337235G>A ENST00000370493.3 + 2 879 c.120G>A c.(118-120)ttG>ttA p.L40L NM_001009614.2 NP_001009614.1 Q5VSR9 SPXN1_HUMAN SPANX family, member N1 40 endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) AACCGAGTTTGAAAAAGATGA 0.408000 26 45 0 0 0.000586117 0 0 CELSR2 1952 broad.mit.edu 37 1 109807531 109807531 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:109807531C>T ENST00000271332.3 + 12 5567 c.5506C>T c.(5506-5508)Ccg>Tcg p.P1836S NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1836 EGF-like 6; calcium-binding. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TGACCTGAACCCGTGTGAGCA 0.567000 158 279 0 0 0.000781405 0 0 FAM83B 222584 broad.mit.edu 37 6 54806277 54806277 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:54806277G>A ENST00000306858.7 + 5 2624 c.2508G>A c.(2506-2508)tcG>tcA p.S836S NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 836 Poly-Ser. autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) CTTCCTCATCGAATTCTCAAG 0.388000 8 20 0 0 0.000157383 0 0 PRSS54 221191 broad.mit.edu 37 16 58319856 58319856 + Nonsense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:58319856C>T ENST00000219301.4 - 5 901 c.507G>A c.(505-507)tgG>tgA p.W169* PRSS54_ENST00000543437.1_Nonsense_Mutation_p.W70*|PRSS54_ENST00000567164.1_Nonsense_Mutation_p.W169* NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 169 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ATGTGGGATTCCATCCTGACA 0.537000 23 33 0 0 0.000586117 0 0 TIE1 7075 broad.mit.edu 37 1 43773242 43773242 + Splice_Site SNP A A C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:43773242A>C ENST00000372476.3 + 6 991 c.913_splice c.e6+1 p.E304_splice TIE1_ENST00000538015.1_Splice_Site_p.E304_splice|TIE1_ENST00000441333.2_Splice_Site_p.E304_splice|TIE1_ENST00000433781.2_5'UTR NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 304 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AGTGCCAAGAAGGTATGCCTA 0.612000 17 34 0 0 0.00152264 0 0 GPR149 344758 broad.mit.edu 37 3 154138962 154138962 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:154138962C>T ENST00000389740.2 - 3 1588 c.1489G>A c.(1489-1491)Gga>Aga p.G497R NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 497 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) ATATCACCTCCTGTTTTGTCA 0.403000 65 66 0 0 0.000781405 0 0 TRANK1 9881 broad.mit.edu 37 3 36872412 36872412 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:36872412C>T ENST00000301807.6 - 21 8777 c.6880G>A c.(6880-6882)Gtt>Att p.V2294I TRANK1_ENST00000428977.2_Missense_Mutation_p.V2294I|TRANK1_ENST00000429976.2_Missense_Mutation_p.V2844I NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2844 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 ATATCCGAAACCCTCTTGATG 0.602000 34 48 0 0 0.000339439 0 0 ILDR1 286676 broad.mit.edu 37 3 121712403 121712403 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:121712403G>A ENST00000273691.3 - 6 1166 c.1061C>T c.(1060-1062)tCg>tTg p.S354L ILDR1_ENST00000393631.1_Missense_Mutation_p.S309L|ILDR1_ENST00000344209.5_Missense_Mutation_p.S398L|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.S366L NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 398 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) TCCACTCCACGATGGGTCCAA 0.587000 17 26 0 0 0.000422831 0 0 TRAF3IP1 26146 broad.mit.edu 37 2 239234471 239234471 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:239234471T>A ENST00000373327.4 + 3 436 c.214T>A c.(214-216)Ttc>Atc p.F72I TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.F72I|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.F72I NM_015650.3 NP_056465.2 Q8TDR0 MIPT3_HUMAN TNF receptor-associated factor 3 interacting protein 1 72 Abolishes microtubules-binding when missing. cytoplasm|cytoskeleton protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2) 23 all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182) Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184) AAAAATTAGCTTCCTACAAAA 0.418000 10 28 0 0 0.000978159 0 0 SLIT2 9353 broad.mit.edu 37 4 20598053 20598053 + Missense_Mutation SNP G G C rs151150739 byFrequency TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:20598053G>C ENST00000504154.1 + 32 3588 c.3336G>C c.(3334-3336)gaG>gaC p.E1112D SLIT2_ENST00000503837.1_Missense_Mutation_p.E1108D|SLIT2_ENST00000273739.5_Missense_Mutation_p.E1125D|SLIT2_ENST00000503823.1_Missense_Mutation_p.E1104D NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1112 EGF-like 5; calcium-binding (Potential). apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TGTTCTGTGAGTTTTCTCCAC 0.378000 26 69 0 0 0.00058488 0 0 SCNN1A 6337 broad.mit.edu 37 12 6463605 6463605 + Splice_Site SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:6463605C>T ENST00000358945.3 - 7 1799 c.1360_splice c.e7+1 p.W453_splice SCNN1A_ENST00000543768.1_Splice_Site_p.W476_splice|SCNN1A_ENST00000396966.2_Splice_Site_p.W453_splice|SCNN1A_ENST00000228916.2_Splice_Site_p.W453_splice|SCNN1A_ENST00000360168.3_Splice_Site_p.W512_splice|SCNN1A_ENST00000540037.1_Splice_Site_p.W153_splice|SCNN1A_ENST00000538979.1_5'UTR P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 453 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) GAGTCTCACCCCAGGAACTGT 0.572000 40 57 0 0 0.000509022 0 0 ZFP41 286128 broad.mit.edu 37 8 144332163 144332163 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:144332163C>T ENST00000330701.4 + 2 519 c.150C>T c.(148-150)ccC>ccT p.P50P ZFP41_ENST00000522452.1_Silent_p.P50P|ZFP41_ENST00000520584.1_Silent_p.P50P NM_173832.3 NP_776193.1 Q8N8Y5 ZFP41_HUMAN ZFP41 zinc finger protein 50 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|lung(4)|ovary(1) 8 all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) GCACAGAGCCCTGCCTGAGTC 0.562000 10 11 0 0 0.000673444 0 0 FOXN1 8456 broad.mit.edu 37 17 26861982 26861982 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:26861982C>T ENST00000226247.2 + 7 1422 c.1393C>T c.(1393-1395)Cct>Tct p.P465S FOXN1_ENST00000579795.1_Missense_Mutation_p.P465S NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 465 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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 endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) CCTGGCCCCTCCTGGACCCCC 0.672000 5 13 0 0 0.000602214 0 0 GBE1 2632 broad.mit.edu 37 3 81698054 81698054 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:81698054G>A ENST00000429644.2 - 5 1287 c.644C>T c.(643-645)tCt>tTt p.S215F GBE1_ENST00000489715.1_Missense_Mutation_p.S174F NM_000158.3 NP_000149.3 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 215 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) ATGTTTATAAGAAGCTACTTT 0.328000 Glycogen Storage Disease, type IV 7 26 0 0 8.12818e-05 0 0 FAM91A1 157769 broad.mit.edu 37 8 124790922 124790922 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:124790922C>T ENST00000334705.7 + 6 705 c.459C>T c.(457-459)gcC>gcT p.A153A FAM91A1_ENST00000521166.1_Silent_p.A153A NM_144963.2 NP_659400.2 Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 153 breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) GGAAAACAGCCCGTGATCTTC 0.393000 24 34 0 0 0.000878237 0 0 MYO7B 4648 broad.mit.edu 37 2 128367259 128367259 + Missense_Mutation SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:128367259T>C ENST00000389524.4 + 23 3046 c.2993T>C c.(2992-2994)tTg>tCg p.L998S MYO7B_ENST00000409816.2_Missense_Mutation_p.L998S|MYO7B_ENST00000428314.1_Missense_Mutation_p.L998S Q6PIF6 MYO7B_HUMAN myosin VIIB 998 MyTH4 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CGATACCCGTTGCTTTACCAC 0.587000 29 61 0 0 0.00148497 0 0 MXRA5 25878 broad.mit.edu 37 X 3241849 3241849 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:3241849G>A ENST00000217939.6 - 5 2031 c.1877C>T c.(1876-1878)tCa>tTa p.S626L NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 626 Ig-like C2-type 2. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTATACATGTGATGTGTTAGC 0.453000 22 31 0 0 0.000229342 0 0 RXFP2 122042 broad.mit.edu 37 13 32366933 32366933 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr13:32366933G>A ENST00000298386.2 + 16 1565 c.1494G>A c.(1492-1494)atG>atA p.M498I RXFP2_ENST00000380314.1_Missense_Mutation_p.M474I NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 498 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) GCCGCCTCATGGGGTTCCTGG 0.483000 22 27 0 0 0.00047179 0 0 ZSWIM7 125150 broad.mit.edu 37 17 15884382 15884382 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:15884382G>A ENST00000399277.1 - 4 375 c.278C>T c.(277-279)tCa>tTa p.S93L ZSWIM7_ENST00000486655.1_Intron|ZSWIM7_ENST00000472495.1_Missense_Mutation_p.S93L|ZSWIM7_ENST00000399280.2_5'UTR NM_001042697.1|NM_001042698.1 NP_001036162.1|NP_001036163.1 Q19AV6 ZSWM7_HUMAN zinc finger, SWIM-type containing 7 93 DNA recombination|DNA repair nucleus zinc ion binding upper_aerodigestive_tract(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0827) CCGTAGCACTGAGAATGCAAA 0.428000 10 12 0 0 0.000978159 0 0 ATP2B3 492 broad.mit.edu 37 X 152835064 152835064 + Nonsense_Mutation SNP G G T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:152835064G>T ENST00000370186.1 + 20 3630 c.3304G>T c.(3304-3306)Gag>Tag p.E1102* ATP2B3_ENST00000359149.3_Nonsense_Mutation_p.E1116*|ATP2B3_ENST00000393842.1_Nonsense_Mutation_p.E1102*|ATP2B3_ENST00000263519.4_Intron|ATP2B3_ENST00000370181.2_Nonsense_Mutation_p.E1102*|ATP2B3_ENST00000349466.2_Intron Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 1116 Calmodulin-binding subdomain A (By similarity). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCACAGATGGAGGTAGTGAG 0.557000 37 93 1.07121e-22 6.08275e-22 0.00148497 1 0 CDH16 1014 broad.mit.edu 37 16 66948290 66948290 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:66948290C>T ENST00000299752.4 - 7 802 c.609G>A c.(607-609)ctG>ctA p.L203L CDH16_ENST00000394055.3_Silent_p.L203L|CDH16_ENST00000570262.1_Silent_p.L123L|CDH16_ENST00000568632.1_Intron|CDH16_ENST00000565796.1_Silent_p.L203L NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 203 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) AGGTCCTCTCCAGGGCGTGGT 0.607000 10 19 0 0 0.000673444 0 0 MUC16 94025 broad.mit.edu 37 19 9059483 9059483 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:9059483G>A ENST00000397910.4 - 3 28166 c.27963C>T c.(27961-27963)tcC>tcT p.S9321S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9323 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTTCTGTCCTGGAGACCTCAG 0.498000 31 60 0 0 0.000491102 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140811671 140811671 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:140811671C>T ENST00000252085.3 + 1 1487 c.1345C>T c.(1345-1347)Ccg>Tcg p.P449S PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACGACAACCCGCCGGTCTT 0.582000 8 39 0 0 0.000673444 0 0 KANSL3 55683 broad.mit.edu 37 2 97279279 97279279 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:97279279G>A ENST00000599854.1 - 6 947 c.480C>T c.(478-480)ctC>ctT p.L160L KANSL3_ENST00000431828.1_Silent_p.L247L|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Silent_p.L41L|KANSL3_ENST00000441706.2_Silent_p.L160L NM_001115016.2 NP_001108488.1 Q9P2N6 K1310_HUMAN KAT8 regulatory NSL complex subunit 3 247 TCTTCAGTAGGAGAGACAAGG 0.468000 31 58 0 0 0.00058488 0 0 ITPR2 3709 broad.mit.edu 37 12 26714877 26714877 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:26714877G>A ENST00000381340.3 - 35 5055 c.4639C>T c.(4639-4641)Cgt>Tgt p.R1547C NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1547 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GCAATTCCACGATTTTTTGCT 0.323000 13 26 0 0 0.000308642 0 0 HARS2 23438 broad.mit.edu 37 5 140075147 140075147 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:140075147C>T ENST00000230771.3 + 5 677 c.454C>T c.(454-456)Cat>Tat p.H152Y HARS2_ENST00000435019.2_Missense_Mutation_p.H112Y|HARS2_ENST00000448069.2_Intron|HARS2_ENST00000432671.2_Intron|HARS2_ENST00000508522.1_Missense_Mutation_p.H127Y|HARS2_ENST00000502303.1_3'UTR|HARS2_ENST00000437649.2_Intron NM_012208.2 NP_036340.1 P49590 SYHM_HUMAN histidyl-tRNA synthetase 2, mitochondrial 152 histidyl-tRNA aminoacylation mitochondrial matrix ATP binding|histidine-tRNA ligase activity NS(1)|endometrium(3)|large_intestine(5)|lung(10) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAACGTTATCATGTTGGAAA 0.473000 39 77 0 0 0.00148497 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059653 152059653 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:152059653G>A ENST00000368806.1 - 3 569 c.505C>T c.(505-507)Cca>Tca p.P169S NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 169 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) GCTTCTCCTGGAAAGTTGTGA 0.438000 33 58 0 0 0.000814825 0 0 PCDH11X 27328 broad.mit.edu 37 X 91090558 91090558 + Missense_Mutation SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:91090558T>C ENST00000373094.1 + 1 900 c.55T>C c.(55-57)Ttc>Ctc p.F19L PCDH11X_ENST00000298274.8_Missense_Mutation_p.F19L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.F19L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.F19L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.F19L|PCDH11X_ENST00000504220.1_Missense_Mutation_p.F19L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.F19L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.F19L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.F19L NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 19 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 ATGCGTGGTGTTCCACTCTGG 0.483000 23 36 0 0 0.00047179 0 0 RPL5 6125 broad.mit.edu 37 1 93298949 93298949 + Missense_Mutation SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:93298949T>C ENST00000370321.3 + 2 97 c.7T>C c.(7-9)Ttt>Ctt p.F3L NM_000969.3 NP_000960.2 P46777 RL5_HUMAN ribosomal protein L5 3 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) CTTTAAGGGGTTTGTTAAAGT 0.299000 16 30 0 0 0.000422831 0 0 MUC16 94025 broad.mit.edu 37 19 9077469 9077469 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:9077469C>T ENST00000397910.4 - 3 10180 c.9977G>A c.(9976-9978)gGg>gAg p.G3326E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3327 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGACCAGTCCCTGTGATGCT 0.517000 35 56 0 0 0.00058488 0 0 CYP11A1 1583 broad.mit.edu 37 15 74636166 74636166 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:74636166C>T ENST00000358632.4 - 4 1014 c.319G>A c.(319-321)Gac>Aac p.D107N CYP11A1_ENST00000419019.2_Missense_Mutation_p.D107N|CYP11A1_ENST00000268053.6_Missense_Mutation_p.D265N|CYP11A1_ENST00000541301.1_3'UTR NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 265 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) GCCACATGGTCCTTCCAGGTC 0.577000 72 107 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9046254 9046254 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:9046254G>A ENST00000397910.4 - 5 35580 c.35377C>T c.(35377-35379)Cct>Tct p.P11793S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11795 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GATACTTGAGGAAACACAGTT 0.478000 17 16 0 0 0.000566183 0 0 NLRP9 338321 broad.mit.edu 37 19 56249473 56249473 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:56249473C>T ENST00000332836.2 - 1 295 c.268G>A c.(268-270)Gaa>Aaa p.E90K NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 90 DAPIN. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CTCATCTCTTCCTGAGCCTTT 0.498000 191 313 0 0 0.000781405 0 0 ALOX12B 242 broad.mit.edu 37 17 7979013 7979013 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:7979013G>A ENST00000319144.4 - 12 1814 c.1554C>T c.(1552-1554)acC>acT p.T518T ALOX12B_ENST00000577351.1_Intron NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 518 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 GGTAATAATAGGTGATGATCT 0.587000 Multiple Myeloma(8;0.094) 50 95 0 0 0.000781405 0 0 EPHA3 2042 broad.mit.edu 37 3 89521711 89521711 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:89521711G>A ENST00000336596.2 + 16 3013 c.2788G>A c.(2788-2790)Gaa>Aaa p.E930K EPHA3_ENST00000494014.1_Intron NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 930 SAM. extracellular region|integral to plasma membrane ATP binding p.E930K(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) ACACTGCAAGGAAATCTTCAC 0.423000 TSP Lung(6;0.00050) 27 48 0 0 0.000878237 0 0 CCAR1 55749 broad.mit.edu 37 10 70514543 70514543 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:70514543G>A ENST00000265872.6 + 12 1536 c.1417G>A c.(1417-1419)Gaa>Aaa p.E473K CCAR1_ENST00000535016.1_Missense_Mutation_p.E458K|CCAR1_ENST00000543719.1_Missense_Mutation_p.E458K NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 473 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 GGACCCACAAGAACTTCGAGA 0.368000 38 14 0 0 0.000374591 0 0 AHNAK 79026 broad.mit.edu 37 11 62300683 62300683 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:62300683G>A ENST00000378024.4 - 5 1480 c.1206C>T c.(1204-1206)ccC>ccT p.P402P AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 402 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) CCCCAATTTGGGGAGCAGAGG 0.577000 15 6 0 0 0.000308642 0 0 PDE6C 5146 broad.mit.edu 37 10 95372779 95372779 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:95372779C>T ENST00000371447.3 + 1 435 c.297C>T c.(295-297)ttC>ttT p.F99F NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 99 GAF 1. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) GCAGCATGTTCCTGTGCCGGT 0.652000 17 12 0 0 0.000566183 0 0 ZBTB20 26137 broad.mit.edu 37 3 114070718 114070718 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:114070718G>A ENST00000474710.1 - 4 385 c.207C>T c.(205-207)atC>atT p.I69I ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000471418.1_5'UTR|ZBTB20_ENST00000393785.2_5'UTR|ZBTB20_ENST00000464560.1_5'UTR|ZBTB20_ENST00000357258.3_5'UTR|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000462705.1_5'UTR|ZBTB20_ENST00000481632.1_5'UTR NM_001164342.1 NP_001157814.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 69 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) CCTTGCAACTGATGTCACCTG 0.522000 30 41 0 0 0.000814825 0 0 PTPRB 5787 broad.mit.edu 37 12 70988397 70988397 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:70988397C>T ENST00000334414.6 - 6 1410 c.1366G>A c.(1366-1368)Gat>Aat p.D456N PTPRB_ENST00000451516.2_Missense_Mutation_p.D238N|PTPRB_ENST00000550358.1_Missense_Mutation_p.D456N|PTPRB_ENST00000538708.1_Missense_Mutation_p.D238N|PTPRB_ENST00000551525.1_Missense_Mutation_p.D455N|PTPRB_ENST00000550857.1_Missense_Mutation_p.D238N|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000261266.5_Missense_Mutation_p.D238N NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 238 Fibronectin type-III 5. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ATCCCTTTATCCATTAGCATC 0.468000 17 42 0 0 0.00121646 0 0 N4BP2 55728 broad.mit.edu 37 4 40108641 40108641 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:40108641C>T ENST00000261435.6 + 5 1911 c.1495C>T c.(1495-1497)Cgt>Tgt p.R499C NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 499 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 GAACCAGAATCGTGGTAAGAA 0.313000 23 40 0 0 0.000586117 0 0 ZNF415 55786 broad.mit.edu 37 19 53612696 53612696 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:53612696G>A ENST00000455735.2 - 7 1066 c.746C>T c.(745-747)tCa>tTa p.S249L ZNF415_ENST00000448501.1_Missense_Mutation_p.S249L|ZNF415_ENST00000243643.4_Missense_Mutation_p.S201L|ZNF415_ENST00000500065.4_Missense_Mutation_p.S201L|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.S188L|ZNF415_ENST00000421033.1_Missense_Mutation_p.S213L|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR Q09FC8 ZN415_HUMAN zinc finger protein 415 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) TGTGAGTAATGAAGAACAGAT 0.383000 25 54 0 0 0.000375601 0 0 DPYD 1806 broad.mit.edu 37 1 98060686 98060686 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:98060686C>T ENST00000370192.3 - 9 987 c.887G>A c.(886-888)gGc>gAc p.G296D NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 296 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CTGCGTCAGGCCTTGGAAGAT 0.373000 34 75 0 0 0.00148497 0 0 AOC1 26 broad.mit.edu 37 7 150558262 150558262 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:150558262C>T ENST00000493429.1 + 7 2805 c.2221C>T c.(2221-2223)Cct>Tct p.P741S AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000467291.1_Missense_Mutation_p.P741S|AOC1_ENST00000416793.2_Missense_Mutation_p.P760S|AOC1_ENST00000360937.4_Missense_Mutation_p.P741S amine oxidase, copper containing 1 GATGCCTCCCCCTTTTAGCTA 0.607000 10 26 0 0 0.000978159 0 0 SLC9A6 10479 broad.mit.edu 37 X 135104756 135104756 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:135104756C>T ENST00000370695.4 + 11 1397 c.1362C>T c.(1360-1362)ttC>ttT p.F454F SLC9A6_ENST00000370698.3_Silent_p.F422F|SLC9A6_ENST00000370701.1_Silent_p.F402F NM_001042537.1 NP_001036002.1 Q92581 SL9A6_HUMAN solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 422 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) TTGCTATTTTCTTGGGAAGAG 0.313000 24 49 0 0 0.00106085 0 0 VPS13C 54832 broad.mit.edu 37 15 62214859 62214859 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:62214859G>A ENST00000261517.5 - 54 6785 c.6712C>T c.(6712-6714)Ctt>Ttt p.L2238F VPS13C_ENST00000395898.3_Missense_Mutation_p.L2195F|VPS13C_ENST00000249837.3_Missense_Mutation_p.L2195F|VPS13C_ENST00000395896.4_Missense_Mutation_p.L2238F NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2238 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 ATACCCCAAAGATTTTCCATT 0.363000 36 78 0 0 0.00148497 0 0 C7orf65 401335 broad.mit.edu 37 7 47694908 47694908 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:47694908G>A ENST00000408988.2 + 1 67 c.32G>A c.(31-33)gGa>gAa p.G11E NM_001123065.1 NP_001116537.1 Q6ZTY9 CG065_HUMAN chromosome 7 open reading frame 65 11 endometrium(1)|lung(2) 3 TCAACAGAAGGAAGACGGCTC 0.627000 8 29 0 0 0.000442599 0 0 AP1M1 8907 broad.mit.edu 37 19 16338374 16338374 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:16338374C>T ENST00000291439.3 + 7 1138 c.689C>T c.(688-690)tCc>tTc p.S230F AP1M1_ENST00000590756.1_Missense_Mutation_p.S158F|AP1M1_ENST00000444449.2_Missense_Mutation_p.S242F|AP1M1_ENST00000541844.1_Missense_Mutation_p.S158F|AP1M1_ENST00000429941.2_Missense_Mutation_p.S230F NM_032493.3 NP_115882.1 Q9BXS5 AP1M1_HUMAN adaptor-related protein complex 1, mu 1 subunit 230 MHD. cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2) 21 AAAAGCAAATCCGTGGAGCTG 0.602000 26 47 0 0 0.001512 0 0 PCSK1 5122 broad.mit.edu 37 5 95728987 95728987 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:95728987C>T ENST00000311106.3 - 14 2217 c.1980G>A c.(1978-1980)gaG>gaA p.E660E PCSK1_ENST00000508626.1_Silent_p.E613E|PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 660 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AAGGGGCTCCCTCCTCCAACT 0.562000 21 47 0 0 0.00121646 0 0 GAPT 202309 broad.mit.edu 37 5 57790678 57790678 + Silent SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:57790678A>T ENST00000396776.2 + 3 777 c.315A>T c.(313-315)ggA>ggT p.G105G GAPT_ENST00000318469.2_Silent_p.G105G NM_152687.2 NP_689900.1 Q8N292 GAPT_HUMAN GRB2-binding adaptor protein, transmembrane 105 B cell activation integral to membrane|plasma membrane NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 AAGCTAAAGGAAAAACCGATA 0.403000 39 46 0 0 0.00128727 0 0 FERMT1 55612 broad.mit.edu 37 20 6088199 6088199 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:6088199A>T ENST00000217289.4 - 6 1617 c.829T>A c.(829-831)Ttc>Atc p.F277I FERMT1_ENST00000536936.1_Missense_Mutation_p.F20I NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 277 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 AAGTCGAAGAAAGAATAATAT 0.368000 11 20 0 0 0.000219431 0 0 SIRPB2 284759 broad.mit.edu 37 20 1471926 1471926 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:1471926G>A ENST00000359801.3 - 1 116 c.80C>T c.(79-81)cCc>cTc p.P27L SIRPB2_ENST00000444444.1_Missense_Mutation_p.P27L|SIRPB2_ENST00000381630.1_Missense_Mutation_p.P27L|SIRPB2_ENST00000537284.1_5'UTR NM_001122962.1 NP_001116434.1 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 27 integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CTTACCTGAGGGGACAAGGAC 0.617000 12 20 0 0 0.000151284 0 0 PLEKHM2 23207 broad.mit.edu 37 1 16060315 16060315 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:16060315C>T ENST00000375799.3 + 20 3173 c.2946C>T c.(2944-2946)atC>atT p.I982I RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000477849.1_3'UTR|PLEKHM2_ENST00000375793.2_Silent_p.I962I NM_015164.2 NP_055979.2 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 2 982 Golgi organization cytoplasm kinesin binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) ACACGGCGATCCAGGAAGCCT 0.642000 21 57 0 0 0.000375601 0 0 KIAA1804 84451 broad.mit.edu 37 1 233515355 233515355 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:233515355C>T ENST00000366624.3 + 9 2864 c.2603C>T c.(2602-2604)tCc>tTc p.S868F MLK4_ENST00000366622.1_Missense_Mutation_p.S314F NM_032435.2 NP_115811.2 TTGCCGTCTTCCTTCCTACAG 0.498000 19 40 0 0 0.000958276 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373853 86373853 + Silent SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:86373853T>A ENST00000604798.1 - 8 1855 c.651A>T c.(649-651)tcA>tcT p.S217S MGAT4C_ENST00000332156.1_Silent_p.S217S|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000552808.2_Silent_p.S217S|MGAT4C_ENST00000548651.1_Silent_p.S217S|MGAT4C_ENST00000549405.2_Silent_p.S217S|MGAT4C_ENST00000393205.2_Silent_p.S246S Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 217 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CATAATAGTCTGAAGTATTGG 0.333000 21 33 0 0 0.00152264 0 0 SERINC3 10955 broad.mit.edu 37 20 43129877 43129877 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:43129877G>A ENST00000342374.4 - 9 1277 c.1120C>T c.(1120-1122)Ctt>Ttt p.L374F SERINC3_ENST00000541235.1_Missense_Mutation_p.L319F|SERINC3_ENST00000255175.1_Missense_Mutation_p.L374F NM_006811.2 NP_006802.1 Q13530 SERC3_HUMAN serine incorporator 3 374 integral to membrane|plasma membrane protein binding endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) GTATCACCAAGGATGACGCTG 0.512000 31 49 0 0 0.00058488 0 0 MAP7D1 55700 broad.mit.edu 37 1 36644056 36644056 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:36644056C>T ENST00000316156.4 + 9 2087 c.1634C>T c.(1633-1635)cCc>cTc p.P545L MAP7D1_ENST00000373151.2_Missense_Mutation_p.P582L|MAP7D1_ENST00000373148.4_Missense_Mutation_p.P119L|MAP7D1_ENST00000373150.4_Missense_Mutation_p.P550L Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 582 Pro-rich. cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) GCCCCTGCTCCCCCGGTGACC 0.682000 5 6 0 0 0.000157383 0 0 MAP3K19 80122 broad.mit.edu 37 2 135743570 135743570 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:135743570C>T ENST00000375845.3 - 7 2902 c.2872G>A c.(2872-2874)Gac>Aac p.D958N MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.D845N|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.D975N|MAP3K19_ENST00000375844.3_Intron NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 TTTACAGAGTCCATAATTTCT 0.308000 14 31 0 0 0.000151284 0 0 LIPI 149998 broad.mit.edu 37 21 15561499 15561499 + Silent SNP G G A rs148528170 byFrequency TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr21:15561499G>A ENST00000344577.2 - 2 376 c.351C>T c.(349-351)ttC>ttT p.F117F LIPI_ENST00000536861.1_Silent_p.F96F NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 96 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity p.F117F(1) endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) AAATCCTTACGAAGTTCTGAA 0.368000 26 50 0 0 0.00127121 0 0 APOBR 55911 broad.mit.edu 37 16 28509438 28509438 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:28509438C>T ENST00000564831.1 + 3 3025 c.2992C>T c.(2992-2994)Cca>Tca p.P998S APOBR_ENST00000328423.5_Missense_Mutation_p.P989S|APOBR_ENST00000431282.1_Missense_Mutation_p.P989S NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 989 cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 CGTCTCTGTCCCAAGGAGTCG 0.687000 6 18 0 0 0.00116845 0 0 GPRC6A 222545 broad.mit.edu 37 6 117114369 117114369 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:117114369G>A ENST00000310357.3 - 6 1738 c.1717C>T c.(1717-1719)Cct>Tct p.P573S GPRC6A_ENST00000368549.3_Missense_Mutation_p.P502S|GPRC6A_ENST00000530250.1_Missense_Mutation_p.P398S NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 573 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CTCCTAACAGGGGCCCAGTGA 0.438000 9 12 0 0 0.000442599 0 0 GNAI2 2771 broad.mit.edu 37 3 50294242 50294242 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:50294242C>T ENST00000313601.6 + 6 1065 c.681C>T c.(679-681)gcC>gcT p.A227A GNAI2_ENST00000440628.1_Silent_p.A175A|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000266027.5_Silent_p.A211A|GNAI2_ENST00000422163.1_Silent_p.A211A|GNAI2_ENST00000451956.1_Silent_p.A190A|GNAI2_ENST00000536647.1_Silent_p.A146A NM_002070.2 NP_002061.1 P04899 GNAI2_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 227 adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651) TCTGCGTAGCCTTGAGCGCCT 0.572000 30 32 0 0 0.001512 0 0 DCAF5 8816 broad.mit.edu 37 14 69522018 69522018 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:69522018G>A ENST00000341516.5 - 9 1532 c.1385C>T c.(1384-1386)tCg>tTg p.S462L DCAF5_ENST00000554215.1_Missense_Mutation_p.S380L|DCAF5_ENST00000557386.1_Missense_Mutation_p.S461L|DCAF5_ENST00000556847.1_Missense_Mutation_p.S380L|DCAF5_ENST00000553293.1_5'UTR NM_003861.2 NP_003852.1 Q96JK2 DCAF5_HUMAN DDB1 and CUL4 associated factor 5 462 CUL4 RING ubiquitin ligase complex breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 CAATGAGGCCGAAGACTCTGA 0.612000 15 22 0 0 0.000308642 0 0 DNAH8 1769 broad.mit.edu 37 6 38843575 38843575 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:38843575C>T ENST00000359357.3 + 51 7432 c.7178C>T c.(7177-7179)aCc>aTc p.T2393I DNAH8_ENST00000449981.2_Missense_Mutation_p.T2610I|DNAH8_ENST00000441566.1_Missense_Mutation_p.T2357I dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TCAAATCAAACCATGTATGAG 0.353000 15 35 0 0 0.000219431 0 0 KIN 22944 broad.mit.edu 37 10 7817756 7817756 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:7817756G>A ENST00000379562.3 - 6 612 c.565C>T c.(565-567)Cct>Tct p.P189S KIN_ENST00000543003.1_Missense_Mutation_p.P83S|KIN_ENST00000535925.1_Missense_Mutation_p.P189S O60870 KIN17_HUMAN KIN, antigenic determinant of recA protein homolog (mouse) 189 DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2) 19 GTAAAAGTAGGGACCTCCTAA 0.313000 12 7 0 0 0.000978159 0 0 FOXJ1 2302 broad.mit.edu 37 17 74136356 74136356 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:74136356C>T ENST00000322957.6 - 2 475 c.121G>A c.(121-123)Gaa>Aaa p.E41K NM_001454.3 NP_001445.2 Q92949 FOXJ1_HUMAN forkhead box J1 41 actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 large_intestine(1)|liver(1)|pancreas(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(166;0.187) ATGGAGAATTCCTGCAGCCAC 0.751000 8 14 0 0 0.000442599 0 0 DNAH17 8632 broad.mit.edu 37 17 76482527 76482527 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:76482527G>A ENST00000389840.5 - 45 6962 c.6838C>T c.(6838-6840)Ctc>Ttc p.L2280F DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.L2289F|RP11-559N14.5_ENST00000585969.1_RNA dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TTGTCAAAGAGGATCATCAGG 0.582000 19 19 0 0 0.00074312 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28338411 28338411 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr21:28338411C>T ENST00000284987.5 - 1 421 c.300G>A c.(298-300)ttG>ttA p.L100L NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 100 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 GCTCCAGGTCCAAGAGGAACC 0.682000 16 33 0 0 0.00074312 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20854341 20854341 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:20854341G>A ENST00000381552.1 + 3 587 c.219G>A c.(217-219)agG>agA p.R73R SLCO1C1_ENST00000545604.1_Silent_p.R73R|SLCO1C1_ENST00000266509.2_Silent_p.R73R|SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000540354.1_Silent_p.R73R Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 73 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) TAGAGAGAAGGTTTGATATCC 0.393000 32 52 0 0 0.00058488 0 0 KNOP1 400506 broad.mit.edu 37 16 19726093 19726093 + Missense_Mutation SNP G G A rs146629491 by1000genomes TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:19726093G>A ENST00000219837.7 - 2 343 c.265C>T c.(265-267)Cct>Tct p.P89S AC002550.5_ENST00000565916.1_RNA NM_001012991.2 NP_001013009.2 lysine-rich nucleolar protein 1 CGTCTAGCAGGCAGCGTGGTC 0.512000 22 44 0 0 0.00047179 0 0 ZIM3 114026 broad.mit.edu 37 19 57648328 57648328 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:57648328T>A ENST00000269834.1 - 4 539 c.154A>T c.(154-156)Acc>Tcc p.T52S NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 52 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGTTTGGTGGTTTCCCCTTGT 0.507000 17 43 0 0 0.00121646 0 0 PFAS 5198 broad.mit.edu 37 17 8169316 8169316 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:8169316C>T ENST00000314666.6 + 21 2815 c.2682C>T c.(2680-2682)atC>atT p.I894I PFAS_ENST00000545834.1_Silent_p.I470I NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 894 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCTTCAGCATCACTCAGGGGC 0.627000 18 22 0 0 0.00074312 0 0 ESRP1 54845 broad.mit.edu 37 8 95653669 95653669 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:95653669C>T ENST00000433389.2 + 1 313 c.123C>T c.(121-123)gcC>gcT p.A41A ESRP1_ENST00000423620.2_Silent_p.A41A|ESRP1_ENST00000358397.5_Silent_p.A41A|ESRP1_ENST00000454170.2_Silent_p.A41A NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 41 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 TGGATCTGGCCAACAAGAAGG 0.527000 118 170 0 0 0.000781405 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40300332 40300332 + Missense_Mutation SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:40300332T>C ENST00000263791.5 + 25 3555 c.3512T>C c.(3511-3513)tTt>tCt p.F1171S EIF2AK4_ENST00000559311.1_3'UTR|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.F1143S NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 1171 Histidyl-tRNA synthetase-like. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) ACCAACAGCTTTCTGCCCACT 0.418000 64 118 0 0 0.000781405 0 0 DNAH7 56171 broad.mit.edu 37 2 196682525 196682525 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:196682525G>A ENST00000312428.6 - 50 9420 c.9320C>T c.(9319-9321)cCt>cTt p.P3107L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3107 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CATTCCCTCAGGGGTTATCAT 0.343000 13 21 0 0 0.000151284 0 0 WBP11P1 441818 broad.mit.edu 37 18 30093079 30093079 + RNA SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr18:30093079C>T ENST00000567636.1 + 0 1454 NR_003558.1 GGAGCTCCTCCTGAGACCACC 0.572000 3 6 0 0 6.4e-05 0 0 DSG2 1829 broad.mit.edu 37 18 29126475 29126475 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr18:29126475G>A ENST00000261590.8 + 15 3335 c.3126G>A c.(3124-3126)caG>caA p.Q1042Q RP11-75N4.2_ENST00000583706.1_RNA NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 1042 cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) CAGTAGGACAGAATGTGACAG 0.498000 30 44 0 0 0.00127121 0 0 GRIN2A 2903 broad.mit.edu 37 16 10032408 10032408 + Splice_Site SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:10032408C>T ENST00000396573.2 - 4 724 c.414_splice c.e4-1 p.D139_splice GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000330684.3_Splice_Site_p.D139_splice|GRIN2A_ENST00000396575.2_Splice_Site_p.D139_splice|GRIN2A_ENST00000562109.1_Splice_Site_p.D139_splice|GRIN2A_ENST00000535259.1_5'UTR|GRIN2A_ENST00000404927.2_Splice_Site_p.D139_splice NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 139 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) GACGTCGGATCCTGCCAGTGA 0.468000 18 25 0 0 0.00074312 0 0 TNKS 8658 broad.mit.edu 37 8 9588486 9588486 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:9588486C>T ENST00000310430.6 + 14 2114 c.2088C>T c.(2086-2088)cgC>cgT p.R696R TNKS_ENST00000518281.1_Silent_p.R459R NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 696 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) GCTACAACCGCGTGTCTGTTG 0.507000 22 14 0 0 0.00047179 0 0 RETNLB 84666 broad.mit.edu 37 3 108476003 108476003 + Silent SNP G G A rs79104027 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:108476003G>A ENST00000295755.6 - 1 228 c.30C>T c.(28-30)atC>atT p.I10I NM_032579.2 NP_115968.1 Q9BQ08 RETNB_HUMAN resistin like beta 10 cell proliferation extracellular region hormone activity endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 GGGGGATTAGGATGAGAAGGA 0.512000 7 19 0 0 0.000157383 0 0 TBX20 57057 broad.mit.edu 37 7 35244129 35244129 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:35244129C>T ENST00000408931.3 - 7 1482 c.956G>A c.(955-957)gGa>gAa p.G319E NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 319 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 ATCTTCTTCTCCTCCGTAGGT 0.483000 14 35 0 0 0.000566183 0 0 NLRP8 126205 broad.mit.edu 37 19 56466093 56466093 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:56466093G>A ENST00000291971.3 + 3 740 c.669G>A c.(667-669)gtG>gtA p.V223V NLRP8_ENST00000590542.1_Silent_p.V223V NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 223 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CCAAAAAGGTGATGTTTGAGT 0.532000 15 28 0 0 0.000219431 0 0 CSMD3 114788 broad.mit.edu 37 8 113348946 113348946 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:113348946C>T ENST00000297405.5 - 44 7198 c.6954G>A c.(6952-6954)ggG>ggA p.G2318G CSMD3_ENST00000455883.2_Silent_p.G2214G|CSMD3_ENST00000343508.3_Silent_p.G2278G|CSMD3_ENST00000352409.3_Silent_p.G2248G NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2318 CUB 13. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGATGCCATTCCCAGGGGGTA 0.348000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 52 69 0 0 0.000781405 0 0 CYP4B1 1580 broad.mit.edu 37 1 47276530 47276530 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:47276530C>T ENST00000271153.4 + 2 267 c.231C>T c.(229-231)ttC>ttT p.F77F CYP4B1_ENST00000371919.4_Silent_p.F77F|CYP4B1_ENST00000371923.4_Silent_p.F77F P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 77 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) CCCACCAGTTCCCGTATGCCC 0.552000 15 27 0 0 0.000308642 0 0 ASAH2 56624 broad.mit.edu 37 10 51974589 51974589 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:51974589C>T ENST00000395526.3 - 8 1053 c.1054G>A c.(1054-1056)Gat>Aat p.D352N ASAH2_ENST00000329428.6_Missense_Mutation_p.D333N|ASAH2_ENST00000443575.1_Missense_Mutation_p.D194N|ASAH2_ENST00000447815.1_Missense_Mutation_p.D352N NM_019893.2 NP_063946.2 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 352 apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity large_intestine(1)|lung(9)|urinary_tract(1) 11 GGGGACACATCTCCTAGGTTT 0.448000 18 26 0 0 0.00121646 0 0 BRF1 2972 broad.mit.edu 37 14 105718852 105718852 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:105718852G>A ENST00000546474.1 - 5 15495 c.536C>T c.(535-537)cCg>cTg p.P179L BRF1_ENST00000379937.2_Missense_Mutation_p.P152L|BRF1_ENST00000327359.3_Missense_Mutation_p.P64L|BRF1_ENST00000440513.3_Missense_Mutation_p.P64L NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 179 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) ACCTATGGCCGGCGCATTGAT 0.532000 13 18 0 0 0.000219431 0 0 TAMM41 132001 broad.mit.edu 37 3 11885596 11885596 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:11885596G>A ENST00000444133.2 - 2 367 c.225C>T c.(223-225)ttC>ttT p.F75F TAMM41_ENST00000455809.1_Silent_p.F75F|TAMM41_ENST00000273037.5_Silent_p.F75F Q96BW9 MMP37_HUMAN TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae) 75 protein import into mitochondrial matrix extrinsic to mitochondrial inner membrane AAACTTTTAGGAAAGAGTAGT 0.418000 15 9 0 0 0.000566183 0 0 KLHL38 340359 broad.mit.edu 37 8 124658106 124658106 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:124658106G>A ENST00000325995.7 - 3 1642 c.1619C>T c.(1618-1620)tCc>tTc p.S540F CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 540 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 GAAGGAGGCGGAGTCCTCAAT 0.607000 25 44 0 0 0.000586117 0 0 NETO2 81831 broad.mit.edu 37 16 47162260 47162260 + Nonsense_Mutation SNP G G A rs144229750 by1000genomes TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:47162260G>A ENST00000562435.1 - 4 841 c.457C>T c.(457-459)Cga>Tga p.R153* NETO2_ENST00000303155.5_Nonsense_Mutation_p.R153* NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 153 CUB 1. integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) TATTTTGCTCGAAATCCCAGT 0.363000 HNSCC(25;0.065) 32 48 0 0 0.000339439 0 0 OR2M3 127062 broad.mit.edu 37 1 248366832 248366832 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:248366832G>A ENST00000456743.1 + 1 501 c.463G>A c.(463-465)Gat>Aat p.D155N NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GGGCTCTACGGATGGAATTAT 0.473000 57 154 0 0 0.000781405 0 0 TDRD5 163589 broad.mit.edu 37 1 179631290 179631290 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:179631290G>A ENST00000444136.1 + 15 2624 c.2374G>A c.(2374-2376)Gat>Aat p.D792N TDRD5_ENST00000367614.1_Missense_Mutation_p.D738N|TDRD5_ENST00000294848.8_Missense_Mutation_p.D738N NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 790 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 CATAGGTGATGATATTTGGGA 0.423000 31 43 0 0 0.00058488 0 0 RYK 6259 broad.mit.edu 37 3 133910819 133910819 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:133910819C>T ENST00000427044.2 - 9 932 c.322G>A c.(322-324)Ggt>Agt p.G108S RYK_ENST00000296084.4_Missense_Mutation_p.G298S P34925 RYK_HUMAN receptor-like tyrosine kinase 294 WIF. corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway cytoplasm|integral to plasma membrane|nucleus ATP binding|transmembrane receptor protein tyrosine kinase activity lung(1)|ovary(3) 4 GTAGGATAACCTAAGGAGCCA 0.428000 21 35 0 0 0.000720815 0 0 FREM1 158326 broad.mit.edu 37 9 14857659 14857659 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:14857659G>A ENST00000380881.4 - 6 1535 c.720C>T c.(718-720)ttC>ttT p.F240F FREM1_ENST00000380880.3_Silent_p.F240F|FREM1_ENST00000422223.2_Silent_p.F240F Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 240 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CCATCAGCAGGAACTCCTCAC 0.468000 21 18 0 0 0.000229342 0 0 KIAA1644 85352 broad.mit.edu 37 22 44692610 44692610 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr22:44692610C>T ENST00000381176.4 - 3 355 c.223G>A c.(223-225)Gag>Aag p.E75K NM_001099294.1 NP_001092764.1 Q3SXP7 K1644_HUMAN KIAA1644 75 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) GCCTGGAACTCCGTCTCGTTG 0.592000 134 34 0 0 0.000781405 0 0 SMPDL3B 27293 broad.mit.edu 37 1 28271830 28271830 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:28271830C>T ENST00000373894.3 + 2 340 c.149C>T c.(148-150)tCc>tTc p.S50F SMPDL3B_ENST00000373888.4_Missense_Mutation_p.S50F|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.S50F|SMPDL3B_ENST00000466793.1_3'UTR|RP11-460I13.2_ENST00000448015.1_RNA NM_014474.2 NP_055289.2 Q92485 ASM3B_HUMAN sphingomyelin phosphodiesterase, acid-like 3B 50 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 16 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055) TCAGCTGGATCCCAGCCAGTG 0.577000 12 26 0 0 0.000978159 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51918465 51918465 + Nonsense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:51918465G>A ENST00000353836.5 - 7 1521 c.1300C>T c.(1300-1302)Cag>Tag p.Q434* SIGLEC10_ENST00000439889.2_Nonsense_Mutation_p.Q376*|SIGLEC10_ENST00000436984.2_Nonsense_Mutation_p.Q386*|SIGLEC10_ENST00000339313.5_Nonsense_Mutation_p.Q434*|SIGLEC10_ENST00000441969.3_Nonsense_Mutation_p.Q376*|SIGLEC10_ENST00000432469.2_Nonsense_Mutation_p.Q351*|SIGLEC10_ENST00000442846.3_Nonsense_Mutation_p.Q286*|SIGLEC10_ENST00000356298.5_Nonsense_Mutation_p.Q434*|SIGLEC10_ENST00000525998.1_Nonsense_Mutation_p.Q344* NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 434 Ig-like C2-type 3. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GAGACGTGCTGGGAGCCCAGT 0.672000 25 23 0 0 0.00127121 0 0 ELSPBP1 64100 broad.mit.edu 37 19 48523119 48523119 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:48523119T>A ENST00000339841.2 + 5 677 c.499T>A c.(499-501)Ttc>Atc p.F167I ELSPBP1_ENST00000597519.1_Intron NM_022142.4 NP_071425.3 Q96BH3 ESPB1_HUMAN epididymal sperm binding protein 1 167 Fibronectin type-II 3. single fertilization extracellular region NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6) 10 all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606) AAAGTGGAGTTTCTGTGCCGA 0.488000 15 26 0 0 0.000422831 0 0 APMAP 57136 broad.mit.edu 37 20 24959505 24959505 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:24959505G>A ENST00000217456.2 - 3 516 c.226C>T c.(226-228)Ccg>Tcg p.P76S APMAP_ENST00000447138.1_Missense_Mutation_p.P76S NM_020531.2 NP_065392.1 adipocyte plasma membrane associated protein AGCAAGAGCGGGGGTTCTTTG 0.438000 25 33 0 0 0.000586117 0 0 SH3BGRL 6451 broad.mit.edu 37 X 80532515 80532515 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:80532515C>T ENST00000373212.5 + 2 336 c.78C>T c.(76-78)ttC>ttT p.F26F SH3BGRL_ENST00000481106.1_3'UTR NM_003022.2 NP_003013.1 O75368 SH3L1_HUMAN SH3 domain binding glutamic acid-rich protein like 26 cytoplasm|nucleus SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|lung(2)|ovary(1) 4 all_lung(315;5.94e-05) TGCTTGGTTTCCTAGAAGCCA 0.378000 13 39 0 0 0.000422831 0 0 FEM1A 55527 broad.mit.edu 37 19 4792820 4792820 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:4792820C>T ENST00000269856.3 + 1 1093 c.954C>T c.(952-954)gcC>gcT p.A318A AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 318 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) TGCTTGGGGCCCTTAAACACT 0.597000 12 20 0 0 0.00136819 0 0 EFTUD2 9343 broad.mit.edu 37 17 42936451 42936451 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:42936451G>A ENST00000426333.2 - 19 2256 c.1959C>T c.(1957-1959)atC>atT p.I653I EFTUD2_ENST00000402521.3_Silent_p.I618I|EFTUD2_ENST00000592576.1_Silent_p.I643I|EFTUD2_ENST00000591382.1_Silent_p.I653I NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 653 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) GCTGTACCTTGATGTCTATCT 0.522000 22 40 0 0 0.000375601 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18066477 18066477 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:18066477G>A ENST00000506618.2 - 1 1009 c.929C>T c.(928-930)tCc>tTc p.S310F NM_175886.2 NP_787082.1 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 310 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) GAACAGGTAGGAAACAGATTC 0.333000 181 162 0 0 0.000781405 0 0 GBP4 115361 broad.mit.edu 37 1 89652711 89652711 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:89652711G>A ENST00000355754.6 - 9 1582 c.1485C>T c.(1483-1485)gcC>gcT p.A495A NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 495 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) CAGCAGTGAGGGCTTTGTCTG 0.527000 33 57 0 0 0.000692331 0 0 GLDN 342035 broad.mit.edu 37 15 51696536 51696536 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:51696536G>A ENST00000335449.6 + 10 1297 c.1241G>A c.(1240-1242)cGa>cAa p.R414Q GLDN_ENST00000396399.2_Missense_Mutation_p.R290Q NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 414 Olfactomedin-like. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) TATTTTGATCGAAAATACCTT 0.373000 62 88 0 0 0.000781405 0 0 MCRS1 10445 broad.mit.edu 37 12 49952686 49952686 + Silent SNP G G A rs144884321 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:49952686G>A ENST00000550165.1 - 15 1508 c.1242C>T c.(1240-1242)atC>atT p.I414I MCRS1_ENST00000343810.4_Silent_p.I414I|MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000546244.1_Silent_p.I223I|MCRS1_ENST00000357123.4_Silent_p.I427I Q96EZ8 MCRS1_HUMAN microspherule protein 1 414 FHA. DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|MLL1 complex|nucleolus protein binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11) 23 GCCGTCCATCGATGTAGATGG 0.552000 24 37 0 0 0.000586117 0 0 CCDC42 146849 broad.mit.edu 37 17 8644940 8644940 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:8644940C>T ENST00000293845.3 - 4 570 c.344G>A c.(343-345)cGa>cAa p.R115Q CCDC42_ENST00000539522.2_Missense_Mutation_p.R115Q NM_144681.2 NP_653282.2 Q96M95 CCD42_HUMAN coiled-coil domain containing 42 115 kidney(1)|large_intestine(4)|lung(3)|ovary(1) 9 CTTGAGTTCTCGCTCCTTGTT 0.652000 15 21 0 0 0.000422831 0 0 SYT16 83851 broad.mit.edu 37 14 62462942 62462942 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:62462942G>A ENST00000430451.2 + 1 402 c.205G>A c.(205-207)Gat>Aat p.D69N SYT16_ENST00000446982.2_Missense_Mutation_p.D69N NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 69 p.D69H(2) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GTACTTTGAAGATGAAGAACA 0.368000 62 108 0 0 0.000781405 0 0 DISP2 85455 broad.mit.edu 37 15 40657471 40657471 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:40657471C>T ENST00000267889.3 + 6 930 c.843C>T c.(841-843)ccC>ccT p.P281P NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 281 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) TCTGTGGCCCCCCTGGTAAGC 0.607000 8 22 0 0 0.000157383 0 0 OR51S1 119692 broad.mit.edu 37 11 4869718 4869718 + Missense_Mutation SNP G G A rs115882083 byFrequency TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:4869718G>A ENST00000322101.2 - 1 796 c.721C>T c.(721-723)Cgc>Tgc p.R241C MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GCCTTCCAGCGATCCTCTCTG 0.522000 17 9 0 0 0.000566183 0 0 OR10H3 26532 broad.mit.edu 37 19 15852274 15852274 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:15852274C>T ENST00000305892.1 + 1 72 c.72C>T c.(70-72)ctC>ctT p.L24L NM_013938.1 NP_039226.1 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, member 3 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CCCAGCAGCTCCTGCCTGTCT 0.483000 51 114 0 0 0.000781405 0 0 KCNK1 3775 broad.mit.edu 37 1 233802528 233802528 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:233802528C>T ENST00000366621.3 + 2 711 c.543C>T c.(541-543)atC>atT p.I181I KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Silent_p.I65I NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 181 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) TGGTGGCCATCGTCCATGCCG 0.602000 22 58 0 0 0.000229342 0 0 OR2T3 343173 broad.mit.edu 37 1 248637593 248637593 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:248637593G>A ENST00000359594.2 + 1 967 c.942G>A c.(940-942)atG>atA p.M314I NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 314 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGTCAAGAATGAACCAAGAAA 0.488000 37 304 0 0 0.00170553 0 0 CELSR3 1951 broad.mit.edu 37 3 48691417 48691417 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:48691417G>A ENST00000544264.1 - 8 5452 c.5172C>T c.(5170-5172)caC>caT p.H1724H CELSR3_ENST00000164024.4_Silent_p.H1724H Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1724 EGF-like 4; calcium-binding. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGTCACAAAAGTGTAGCTTGG 0.597000 14 22 0 0 0.000151284 0 0 SNHG12 85028 broad.mit.edu 37 1 28907611 28907611 + RNA SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:28907611C>T ENST00000488745.1 - 0 1013 SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA CTCACCTGTCCATCATTACTA 0.547000 10 20 0 0 0.000442599 0 0 MUC16 94025 broad.mit.edu 37 19 9072702 9072702 + Missense_Mutation SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:9072702A>G ENST00000397910.4 - 3 14947 c.14744T>C c.(14743-14745)gTt>gCt p.V4915A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4917 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTTGTAAGGAACAGTGCTTGT 0.522000 35 91 0 0 0.00058488 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236476 140236476 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:140236476C>T ENST00000307360.5 + 1 843 c.843C>T c.(841-843)agC>agT p.S281S PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.S281S|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_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) ATTCATTTAGCTCTTTGGTCC 0.358000 22 39 0 0 0.000375601 0 0 LAMA3 3909 broad.mit.edu 37 18 21501454 21501454 + Nonsense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr18:21501454G>A ENST00000313654.9 + 62 8323 c.8082G>A c.(8080-8082)tgG>tgA p.W2694* LAMA3_ENST00000399516.3_Nonsense_Mutation_p.W2638*|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.W1029*|LAMA3_ENST00000269217.6_Nonsense_Mutation_p.W1085*|LAMA3_ENST00000588770.1_3'UTR NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2694 Laminin G-like 2. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGCGTATGTGGATAAATGTGG 0.368000 25 52 0 0 0.000720815 0 0 COL3A1 1281 broad.mit.edu 37 2 189862072 189862072 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:189862072G>A ENST00000304636.3 + 26 1996 c.1826G>A c.(1825-1827)gGa>gAa p.G609E COL3A1_ENST00000317840.5_Missense_Mutation_p.G609E NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 609 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGTCCTCCTGGAAAGAATGGT 0.443000 23 30 0 0 0.000586117 0 0 GCM1 8521 broad.mit.edu 37 6 52993715 52993715 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:52993715C>T ENST00000259803.7 - 6 811 c.600G>A c.(598-600)ggG>ggA p.G200G NM_003643.3 NP_003634.2 Q9NP62 GCM1_HUMAN glial cells missing homolog 1 (Drosophila) 200 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) AAGGTAAACTCCCCTGACTTT 0.428000 26 62 0 0 0.001512 0 0 HEYL 26508 broad.mit.edu 37 1 40092735 40092735 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:40092735G>A ENST00000372852.3 - 5 750 c.431C>T c.(430-432)cCc>cTc p.P144L HEYL_ENST00000535435.1_Missense_Mutation_p.P116L NM_014571.3 NP_055386.1 Q9NQ87 HEYL_HUMAN hes-related family bHLH transcription factor with YRPW motif-like 144 Orange. multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) AATCCGGACGGGGTCTGCACG 0.647000 21 24 0 0 0.000229342 0 0 ZNF19 7567 broad.mit.edu 37 16 71509231 71509231 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:71509231G>A ENST00000288177.5 - 6 1474 c.1219C>T c.(1219-1221)Cat>Tat p.H407Y ZNF19_ENST00000565637.1_Missense_Mutation_p.H365Y|ZNF19_ENST00000565100.2_Missense_Mutation_p.H337Y|ZNF19_ENST00000567225.1_Intron|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000564230.1_Missense_Mutation_p.H407Y NM_006961.3 NP_008892.2 P17023 ZNF19_HUMAN zinc finger protein 19 407 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1) 22 Ovarian(137;0.00965) BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598) TCTCCAGTATGGATTCTTTGA 0.443000 26 44 0 0 0.00047179 0 0 SCUBE3 222663 broad.mit.edu 37 6 35208186 35208186 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:35208186C>T ENST00000274938.7 + 9 988 c.988C>T c.(988-990)Cac>Tac p.H330Y SCUBE3_ENST00000394681.1_Missense_Mutation_p.H346Y NM_152753.2 NP_689966.2 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 330 EGF-like 8; calcium-binding (Potential). protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 37 AACCTGTGACCACATATGTGT 0.488000 14 31 0 0 0.000566183 0 0 CYP4F8 11283 broad.mit.edu 37 19 15739586 15739586 + RNA SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:15739586C>T ENST00000441682.2 + 0 1391 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 TGACCCCTTCCGCTTCGACCC 0.597000 11 27 0 0 0.000673444 0 0 PCSK1 5122 broad.mit.edu 37 5 95761620 95761620 + Silent SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:95761620T>C ENST00000311106.3 - 3 537 c.300A>G c.(298-300)gaA>gaG p.E100E PCSK1_ENST00000508626.1_Silent_p.E53E|CTD-2337A12.1_ENST00000502645.2_RNA NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 100 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CATACTGTTGTTCAGCCCATA 0.378000 17 23 0 0 0.000229342 0 0 CECR2 27443 broad.mit.edu 37 22 18028326 18028326 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr22:18028326C>T ENST00000262608.8 + 16 3286 c.3286C>T c.(3286-3288)Ccc>Tcc p.P1096S CECR2_ENST00000400573.4_Missense_Mutation_p.P1095S|CECR2_ENST00000400585.2_Missense_Mutation_p.P953S NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 1137 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) GAGCCAGTTTCCCCCGCTGTA 0.607000 10 2 0 0 0.000673444 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220340851 220340851 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:220340851G>A ENST00000358951.2 - 25 3089 c.2973C>T c.(2971-2973)gcC>gcT p.A991A NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 991 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) CACCTGGTATGGCTCCTAAGT 0.378000 48 115 0 0 0.000781405 0 0 PPP1R3C 5507 broad.mit.edu 37 10 93389689 93389689 + Nonsense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:93389689G>A ENST00000238994.5 - 2 1033 c.949C>T c.(949-951)Cga>Tga p.R317* NM_005398.5 NP_005389.1 Q9UQK1 PPR3C_HUMAN protein phosphatase 1, regulatory subunit 3C 317 protein serine/threonine phosphatase activity breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1) 12 Colorectal(252;0.235) TTAATTCATCGATAAGAGGCC 0.473000 33 14 0 0 0.00058488 0 0 XIRP1 165904 broad.mit.edu 37 3 39225664 39225664 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:39225664C>T ENST00000340369.3 - 2 5501 c.5273G>A c.(5272-5274)aGc>aAc p.S1758N XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.S441N NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1758 Interaction with FLNC. actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GTGTTGTGAGCTCCCTGGCCC 0.577000 62 79 0 0 0.000781405 0 0 MIR516B2 574485 broad.mit.edu 37 19 54228779 54228779 + RNA SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:54228779G>A ENST00000385190.1 + 0 84 NR_030207.1 TACTCTTTGAGAAAAGCAGCA 0.398000 9 15 0 0 0.000274275 0 0 MATN3 4148 broad.mit.edu 37 2 20202958 20202958 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:20202958C>T ENST00000407540.3 - 3 942 c.880G>A c.(880-882)Gga>Aga p.G294R AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Intron NM_002381.4 NP_002372.1 O15232 MATN3_HUMAN matrilin 3 294 EGF-like 1. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGGTGTATCCTTGGCTACAC 0.542000 19 29 0 0 0.00074312 0 0 HEXDC 284004 broad.mit.edu 37 17 80382276 80382276 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:80382276C>T ENST00000337014.6 + 3 565 c.91C>T c.(91-93)Cct>Tct p.P31S HEXDC_ENST00000327949.9_Missense_Mutation_p.P31S|HEXDC_ENST00000577944.1_Missense_Mutation_p.P31S NM_173620.2 NP_775891.2 Q8WVB3 HEXDC_HUMAN hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 31 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) CCAGATTTTTCCTCTGTTCCG 0.567000 25 41 0 0 0.00127121 0 0 SLC22A7 10864 broad.mit.edu 37 6 43267668 43267668 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:43267668G>A ENST00000372585.5 + 5 786 c.691G>A c.(691-693)Gtg>Atg p.V231M SLC22A7_ENST00000372589.3_Missense_Mutation_p.V229M|SLC22A7_ENST00000372574.3_Missense_Mutation_p.V229M|SLC22A7_ENST00000487175.1_3'UTR NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 231 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) GCACCGCACCGTGGCTGGAGT 0.607000 27 43 0 0 0.00127121 0 0 ADRBK2 157 broad.mit.edu 37 22 26118328 26118328 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr22:26118328C>T ENST00000324198.5 + 21 2170 c.1978C>T c.(1978-1980)Cgt>Tgt p.R660C NM_005160.3 NP_005151.2 P35626 ARBK2_HUMAN adrenergic, beta, receptor kinase 2 660 ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2) 32 Adenosine triphosphate(DB00171) GCTATTGCGTCGTGCCCCGAA 0.542000 57 10 0 0 0.000781405 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871554 51871554 + Silent SNP T T G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:51871554T>G ENST00000371497.5 + 2 2444 c.1557T>G c.(1555-1557)tcT>tcG p.S519S TSHZ2_ENST00000603338.2_Silent_p.S516S|TSHZ2_ENST00000329613.6_Silent_p.S516S NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 519 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TTTTGAAATCTTTGGAAAATA 0.493000 24 38 0 0 0.000586117 0 0 PID1 55022 broad.mit.edu 37 2 229890452 229890452 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:229890452C>T ENST00000392054.3 - 4 982 c.643G>A c.(643-645)Gag>Aag p.E215K PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Missense_Mutation_p.E217K|PID1_ENST00000392055.3_Missense_Mutation_p.E184K|PID1_ENST00000409462.1_Missense_Mutation_p.E135K NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 217 PID. cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) CTGAAGGCCTCCATCATGGCG 0.562000 32 50 0 0 0.000491102 0 0 MME 4311 broad.mit.edu 37 3 154898211 154898211 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:154898211C>T ENST00000460393.1 + 23 2336 c.2216C>T c.(2215-2217)tCa>tTa p.S739L MME-AS1_ENST00000484721.1_RNA|MME_ENST00000493237.1_Missense_Mutation_p.S739L|MME_ENST00000360490.2_Missense_Mutation_p.S739L|MME_ENST00000492661.1_Missense_Mutation_p.S739L|MME_ENST00000462745.1_Missense_Mutation_p.S739L NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 739 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) CGCAAGAATTCATACATGAAT 0.428000 53 111 0 0 0.000781405 0 0 TDG 6996 broad.mit.edu 37 12 104376924 104376924 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:104376924C>T ENST00000392872.3 + 6 859 c.625C>T c.(625-627)Cgt>Tgt p.R209C TDG_ENST00000542036.1_Intron|TDG_ENST00000266775.9_Missense_Mutation_p.R205C|TDG_ENST00000544861.1_Missense_Mutation_p.R66C NM_003211.4 NP_003202.3 Q13569 TDG_HUMAN thymine-DNA glycosylase 209 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) TAAAGAATTTCGTGAAGGAGG 0.249000 Base excision repair (BER), DNA glycosylases 80 126 0 0 0.000781405 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222071 140222071 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:140222071C>T ENST00000531613.1 + 1 1165 c.1165C>T c.(1165-1167)Ctg>Ttg p.L389L PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.L389L|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACCTGCTCCCTGATGCCCCA 0.557000 65 91 0 0 0.000781405 0 0 FOXN3 1112 broad.mit.edu 37 14 89878430 89878430 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:89878430G>A ENST00000345097.4 - 2 507 c.391C>T c.(391-393)Cca>Tca p.P131S FOXN3_ENST00000261302.5_Missense_Mutation_p.P131S|FOXN3_ENST00000555353.1_Missense_Mutation_p.P131S|FOXN3_ENST00000557258.1_Missense_Mutation_p.P131S NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 131 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|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|protein C-terminus 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 endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CGCTTGGTTGGAGAGTCCTCG 0.512000 31 78 0 0 0.00178596 0 0 OR6C68 403284 broad.mit.edu 37 12 55886239 55886239 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:55886239C>T ENST00000379662.1 + 1 93 c.93C>T c.(91-93)ttC>ttT p.F31F RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|OR6C68_ENST00000548615.1_Silent_p.F26F A6NDL8 O6C68_HUMAN olfactory receptor, family 6, subfamily C, member 68 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 TTCTGCTTTTCATGTTTCTAT 0.413000 47 62 0 0 0.000781405 0 0 ITIH2 3698 broad.mit.edu 37 10 7751130 7751130 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:7751130G>A ENST00000358415.4 + 4 504 c.338G>A c.(337-339)gGa>gAa p.G113E ITIH2_ENST00000379587.4_Missense_Mutation_p.G102E|ITIH2_ENST00000480387.1_Intron NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 113 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 ATCCCCAAAGGAGCATTCATT 0.453000 19 21 0 0 0.000375601 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23391184 23391184 + Silent SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:23391184T>A ENST00000258729.3 - 6 779 c.423A>T c.(421-423)ggA>ggT p.G141G IGF2BP3_ENST00000491719.1_5'UTR NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 141 RRM 2. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 CTAACTGAAATCCATTCAGTT 0.493000 30 42 0 0 0.000339439 0 0 C9orf96 169436 broad.mit.edu 37 9 136259421 136259421 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:136259421C>T ENST00000371957.3 + 8 694 c.587C>T c.(586-588)cCc>cTc p.P196L C9orf96_ENST00000371955.1_5'UTR NM_153710.3 NP_714921.3 Q8NE28 SGK71_HUMAN chromosome 9 open reading frame 96 196 Protein kinase. ATP binding|protein kinase activity autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2) 25 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CCAACAGACCCCTTTCGTAAG 0.567000 31 27 0 0 0.00178596 0 0 LOC100130331 100130331 broad.mit.edu 37 1 238090420 238090420 + RNA SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:238090420C>T ENST00000450451.1 + 0 1926 NR_027247.2 TGTGCGTGGCCCTGGAGGAGC 0.567000 8 25 0 0 0.000274275 0 0 OR51L1 119682 broad.mit.edu 37 11 5021068 5021068 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:5021068C>T ENST00000321543.1 + 1 856 c.856C>T c.(856-858)Ccc>Tcc p.P286S NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CCTTCTTCTTCCCCCAGTCCT 0.458000 28 10 0 0 0.000339439 0 0 DNAI2 64446 broad.mit.edu 37 17 72305515 72305515 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:72305515C>T ENST00000579490.1 + 9 1641 c.1506C>T c.(1504-1506)acC>acT p.T502T DNAI2_ENST00000582036.1_Silent_p.T445T|DNAI2_ENST00000307504.5_Silent_p.T302T|DNAI2_ENST00000446837.2_Silent_p.T445T|DNAI2_ENST00000311014.6_Silent_p.T445T|RP11-647F2.2_ENST00000585167.1_RNA Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 445 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GCGATCCCACCCTCAGCTTGA 0.612000 Kartagener syndrome 11 24 0 0 0.000219431 0 0 PLXDC2 84898 broad.mit.edu 37 10 20436730 20436730 + Nonsense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:20436730C>T ENST00000377252.3 + 6 1523 c.682C>T c.(682-684)Cag>Tag p.Q228* PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Nonsense_Mutation_p.Q179* NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 228 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 ACTTGTGGTCCAGTGGGACCA 0.408000 25 11 0 0 0.000586117 0 0 EZH1 2145 broad.mit.edu 37 17 40865335 40865335 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:40865335G>A ENST00000428826.2 - 11 1217 c.1096C>T c.(1096-1098)Cac>Tac p.H366Y EZH1_ENST00000592743.1_Missense_Mutation_p.H366Y|EZH1_ENST00000585893.1_Missense_Mutation_p.H326Y|EZH1_ENST00000435174.1_Missense_Mutation_p.H227Y|EZH1_ENST00000415827.2_Missense_Mutation_p.H357Y|EZH1_ENST00000590078.1_Missense_Mutation_p.H296Y Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 366 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) CTGACTATGTGGTGCCTTCTC 0.562000 28 53 0 0 0.000878237 0 0 PTPRT 11122 broad.mit.edu 37 20 40790000 40790000 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:40790000C>T ENST00000373198.3 - 18 2975 c.2740G>A c.(2740-2742)Gaa>Aaa p.E914K PTPRT_ENST00000356100.2_Missense_Mutation_p.E901K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E882K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E891K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E882K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E892K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E895K NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 892 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.E914K(2) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ACCTCGTATTCCTCCTTGAAC 0.557000 21 37 0 0 0.000295444 0 0 ATCAY 85300 broad.mit.edu 37 19 3905499 3905499 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:3905499C>T ENST00000450849.2 + 4 671 c.204C>T c.(202-204)atC>atT p.I68I ATCAY_ENST00000301260.6_Silent_p.I68I|ATCAY_ENST00000600960.1_Silent_p.I68I|ATCAY_ENST00000398448.3_Silent_p.I74I NM_033064.4 NP_149053.1 Q86WG3 ATCAY_HUMAN ataxia, cerebellar, Cayman type 68 transport protein binding breast(1)|endometrium(2)|kidney(2)|lung(2) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) CCCCAGAGATCAACATTTCTC 0.507000 10 7 0 0 0.000442599 0 0 BSND 7809 broad.mit.edu 37 1 55474242 55474242 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:55474242G>A ENST00000371265.4 + 4 1158 c.904G>A c.(904-906)Gga>Aga p.G302R NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN Bartter syndrome, infantile, with sensorineural deafness (Barttin) 302 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 GCTGCCAGATGGAGCCGGGGA 0.582000 20 48 0 0 0.000229342 0 0 SCP2D1 140856 broad.mit.edu 37 20 18794514 18794514 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:18794514G>A ENST00000377428.2 + 1 145 c.55G>A c.(55-57)Gtg>Atg p.V19M C20orf78_ENST00000278779.4_Intron NM_178483.2 NP_848578.1 SCP2 sterol-binding domain containing 1 TGGACCTCTGGTGGGCCAGTT 0.517000 15 29 0 0 0.000422831 0 0 GLP2R 9340 broad.mit.edu 37 17 9737139 9737139 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:9737139C>T ENST00000262441.5 + 2 718 c.205C>T c.(205-207)Ctt>Ttt p.L69F GLP2R_ENST00000574745.1_5'UTR NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 69 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) AGGATCCCTCCTTGAGGAAAC 0.483000 12 20 0 0 0.000308642 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12921097 12921097 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:12921097G>A ENST00000240189.2 + 4 975 c.888G>A c.(886-888)gaG>gaA p.E296E NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 296 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACCCCTTGGAGAACTTGGAAT 0.463000 54 74 0 0 0.000781405 0 0 TTC3 7267 broad.mit.edu 37 21 38538400 38538400 + Missense_Mutation SNP C C T rs34414190 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr21:38538400C>T ENST00000399017.2 + 33 6631 c.3884C>T c.(3883-3885)tCc>tTc p.S1295F TTC3_ENST00000355666.1_Missense_Mutation_p.S1295F|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.S1295F NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1295 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) TCCTGTAATTCCCCCAAACCG 0.448000 36 66 0 0 0.000953801 0 0 CASS4 57091 broad.mit.edu 37 20 55026928 55026928 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:55026928C>T ENST00000371336.3 + 5 897 c.696C>T c.(694-696)agC>agT p.S232S CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Silent_p.S232S NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 232 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 GCGGTTACAGCACATTACCAA 0.502000 15 27 0 0 0.000219431 0 0 C9orf84 158401 broad.mit.edu 37 9 114508622 114508622 + Splice_Site SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:114508622C>T ENST00000394779.3 - 6 906 c.661_splice c.e6-1 p.G221_splice C9orf84_ENST00000374283.5_Splice_Site_p.G324_splice|C9orf84_ENST00000318737.4_Splice_Site_p.G260_splice|C9orf84_ENST00000394777.4_Splice_Site_p.G221_splice|C9orf84_ENST00000374287.3_Splice_Site_p.G260_splice NM_001080551.1 NP_001074020.1 Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 260 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TTCTAACTCTCCTGGAATATA 0.373000 21 12 0 0 0.00121646 0 0 ZNF641 121274 broad.mit.edu 37 12 48737346 48737346 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:48737346G>A ENST00000544117.2 - 6 1435 c.727C>T c.(727-729)Ctt>Ttt p.L243F ZNF641_ENST00000547026.1_Missense_Mutation_p.L229F|ZNF641_ENST00000301042.3_Missense_Mutation_p.L243F|ZNF641_ENST00000448928.3_Missense_Mutation_p.L220F Q96N77 ZN641_HUMAN zinc finger protein 641 243 Transactivation. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 TCTTCCTGAAGAAAAGGGGGC 0.532000 10 30 0 0 0.00136819 0 0 SLC16A14 151473 broad.mit.edu 37 2 230910666 230910666 + Silent SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:230910666A>T ENST00000295190.4 - 4 1634 c.1176T>A c.(1174-1176)ctT>ctA p.L392L NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 392 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) TACTGAGGACAAGGGTGAAGT 0.478000 13 31 0 0 0.000151284 0 0 CD96 10225 broad.mit.edu 37 3 111263901 111263901 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:111263901G>A ENST00000352690.4 + 2 310 c.70G>A c.(70-72)Gaa>Aaa p.E24K CD96_ENST00000283285.5_Missense_Mutation_p.E24K|CD96_ENST00000438817.2_Missense_Mutation_p.E24K NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 24 cell adhesion|immune response|regulation of immune response integral to plasma membrane p.E24K(1) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 AGGAGTTTGGGAAAAAACAGT 0.403000 Opitz Trigonocephaly syndrome 29 63 0 0 0.001512 0 0 PTPN6 5777 broad.mit.edu 37 12 7069157 7069157 + Splice_Site SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:7069157G>A ENST00000456013.1 + 12 1671 c.1429_splice c.e12+1 p.G477_splice PTPN6_ENST00000539029.1_3'UTR|PTPN6_ENST00000318974.9_Splice_Site_p.G477_splice|PTPN6_ENST00000399448.1_Splice_Site_p.G479_splice|PTPN6_ENST00000447931.2_Splice_Site_p.G438_splice NM_080549.3 NP_536859.1 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 6 477 Tyrosine-protein phosphatase. apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol|membrane|nucleus protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3) 18 CTCCACCAAGGGTGAGGGGCA 0.657000 27 51 0 0 0.00127121 0 0 PPAP2C 8612 broad.mit.edu 37 19 287583 287583 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:287583G>A ENST00000269812.3 - 3 422 c.373C>T c.(373-375)Ccc>Tcc p.P125S PPAP2C_ENST00000327790.3_Missense_Mutation_p.P146S|PPAP2C_ENST00000434325.2_Missense_Mutation_p.P69S NM_003712.2|NM_177526.1 NP_003703.1|NP_803545.1 O43688 LPP2_HUMAN phosphatidic acid phosphatase type 2C 125 sphingolipid metabolic process integral to membrane|plasma membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1) 5 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGAAGTTGGGCCTCAGACGC 0.602000 29 54 0 0 0.00178596 0 0 CDH22 64405 broad.mit.edu 37 20 44839064 44839064 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr20:44839064C>T ENST00000372262.3 - 6 1568 c.1168G>A c.(1168-1170)Gag>Aag p.E390K CDH22_ENST00000537909.1_Missense_Mutation_p.E390K|CDH22_ENST00000474438.1_5'UTR NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 390 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) TCGGGGGGCTCGTCCACGTCG 0.736000 4 4 0 0 0.00116845 0 0 NUDT7 283927 broad.mit.edu 37 16 77775602 77775602 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr16:77775602C>T ENST00000268533.5 + 4 541 c.472C>T c.(472-474)Cat>Tat p.H158Y NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000564085.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000563839.1_3'UTR|NUDT7_ENST00000437314.3_Missense_Mutation_p.H105Y NM_001105663.2 NP_001099133.1 P0C024 NUDT7_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 7 158 Nudix hydrolase. nucleoside diphosphate metabolic process peroxisome hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1) 18 TCCACAGGTCCATGACCAGCA 0.468000 36 60 0 0 0.000374591 0 0 NAV3 89795 broad.mit.edu 37 12 78400636 78400636 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:78400636C>T ENST00000397909.2 + 8 1491 c.1318C>T c.(1318-1320)Ccc>Tcc p.P440S NAV3_ENST00000266692.7_Missense_Mutation_p.P440S|NAV3_ENST00000536525.2_Missense_Mutation_p.P440S|NAV3_ENST00000228327.6_Missense_Mutation_p.P440S Q8IVL0 NAV3_HUMAN neuron navigator 3 440 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 AAATAGCAGTCCCAAAGTGTC 0.423000 HNSCC(70;0.22) 36 64 0 0 0.000814825 0 0 UPRT 139596 broad.mit.edu 37 X 74494208 74494208 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:74494208G>A ENST00000373379.1 + 1 284 c.119G>A c.(118-120)gGg>gAg p.G40E UPRT_ENST00000373383.4_Missense_Mutation_p.G40E|UPRT_ENST00000531704.1_3'UTR Q96BW1 UPP_HUMAN uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) 40 nucleoside metabolic process cytoplasm|nucleus breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4) 18 GACCACGCAGGGGGAAACAGA 0.642000 7 23 0 0 8.12818e-05 0 0 FMNL2 114793 broad.mit.edu 37 2 153405583 153405583 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:153405583G>A ENST00000288670.9 + 4 698 c.331G>A c.(331-333)Gaa>Aaa p.E111K NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 111 GBD/FH3. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 AAGAGAACTGGAAATTTCTTT 0.343000 9 19 0 0 0.000673444 0 0 ZNF679 168417 broad.mit.edu 37 7 63726795 63726795 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:63726795C>T ENST00000421025.1 + 5 1053 c.784C>T c.(784-786)Cat>Tat p.H262Y ZNF679_ENST00000255746.4_Missense_Mutation_p.H262Y NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 262 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 TAGGAGAATTCATACTGGAGA 0.418000 8 14 0 0 0.000157383 0 0 ITK 3702 broad.mit.edu 37 5 156641224 156641224 + Missense_Mutation SNP G G T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:156641224G>T ENST00000422843.3 + 4 500 c.348G>T c.(346-348)ttG>ttT p.L116F CTB-4E7.1_ENST00000519375.1_RNA NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 116 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) ATAACAGTTTGGTGCCTAAAT 0.443000 T SYK peripheral T-cell lymphoma 10 327 0.000978159 0.00545416 0.000978159 1 0 ROR2 4920 broad.mit.edu 37 9 94488852 94488852 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:94488852C>T ENST00000375708.3 - 8 1555 c.1357G>A c.(1357-1359)Gaa>Aaa p.E453K ROR2_ENST00000375715.1_Missense_Mutation_p.E313K|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 453 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 AGGGGCATTTCCATGTCTTGG 0.537000 17 16 0 0 0.000229342 0 0 TNXB 7148 broad.mit.edu 37 6 32063453 32063453 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:32063453C>T ENST00000375244.3 - 3 2378 c.2177G>A c.(2176-2178)cGa>cAa p.R726Q TNXB_ENST00000375247.2_Missense_Mutation_p.R726Q|TNXB_ENST00000479795.1_Missense_Mutation_p.R726Q P22105 TENX_HUMAN tenascin XB 726 EGF-like 19. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACACTCTCCTCGGCCACGGCA 0.637000 83 135 0 0 0.000781405 0 0 CDCA7 83879 broad.mit.edu 37 2 174229542 174229542 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr2:174229542G>A ENST00000306721.3 + 6 822 c.719G>A c.(718-720)aGg>aAg p.R240K CDCA7_ENST00000347703.3_Missense_Mutation_p.R161K|CDCA7_ENST00000392567.2_Missense_Mutation_p.R161K|CDCA7_ENST00000410101.3_Missense_Mutation_p.R196K|CDCA7_ENST00000410019.3_Missense_Mutation_p.R119K NM_031942.4 NP_114148.3 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 161 regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.116) AGACCGCGAAGGCGTACATTC 0.488000 24 56 0 0 0.00178596 0 0 ALG13 79868 broad.mit.edu 37 X 110951410 110951410 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:110951410C>T ENST00000394780.3 + 4 551 c.539C>T c.(538-540)cCt>cTt p.P180L ALG13_ENST00000251943.4_Missense_Mutation_p.P76L|ALG13-AS1_ENST00000430794.1_RNA NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 180 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 GCTACCCATCCTACCTGCACC 0.498000 11 37 0 0 0.00136819 0 0 PCDH1 5097 broad.mit.edu 37 5 141248667 141248667 + Nonsense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:141248667G>A ENST00000287008.3 - 2 517 c.370C>T c.(370-372)Cag>Tag p.Q124* PCDH1_ENST00000456271.1_Nonsense_Mutation_p.Q124*|PCDH1_ENST00000394536.3_Nonsense_Mutation_p.Q124*|PCDH1_ENST00000536585.1_Nonsense_Mutation_p.Q102*|PCDH1_ENST00000503492.1_Nonsense_Mutation_p.Q124* NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 124 Cadherin 1. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) AGCTGGTTCTGGCATTCACGG 0.587000 14 27 0 0 0.000219431 0 0 IQGAP1 8826 broad.mit.edu 37 15 90984750 90984750 + Missense_Mutation SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:90984750T>C ENST00000268182.5 + 8 786 c.662T>C c.(661-663)gTt>gCt p.V221A IQGAP1_ENST00000560738.1_Intron NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 221 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CATGCTGCTGTTATTGCTATT 0.348000 29 34 0 0 0.00178596 0 0 DNAH5 1767 broad.mit.edu 37 5 13841889 13841889 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:13841889G>A ENST00000265104.4 - 33 5500 c.5396C>T c.(5395-5397)tCa>tTa p.S1799L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1799 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AAGATGCAATGAGGACTGAGA 0.438000 Kartagener syndrome 27 39 0 0 0.001512 0 0 MAATS1 89876 broad.mit.edu 37 3 119462887 119462887 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:119462887C>T ENST00000273390.5 + 14 1823 c.1746C>T c.(1744-1746)ttC>ttT p.F582F NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 TGTTTGACTTCCTGTCCAAAG 0.507000 19 42 0 0 0.00121646 0 0 HIF1A 3091 broad.mit.edu 37 14 62205038 62205038 + Missense_Mutation SNP C C A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:62205038C>A ENST00000394997.1 + 10 1751 c.1486C>A c.(1486-1488)Cag>Aag p.Q496K HIF1A_ENST00000337138.4_Missense_Mutation_p.Q495K|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000323441.6_Missense_Mutation_p.Q495K|HIF1A_ENST00000539097.1_Missense_Mutation_p.Q519K|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.Q436K Q16665 HIF1A_HUMAN hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) 495 ODD. cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production cytoplasm|nucleolus|transcription factor complex histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4) 23 OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189) GCCCCAGATTCAGGATCAGAC 0.418000 89 155 2.18907e-53 1.24591e-52 0.000781405 1 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51350308 51350308 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:51350308A>T ENST00000327536.5 - 3 748 c.649T>A c.(649-651)Ttc>Atc p.F217I RP11-108K3.1_ENST00000559909.1_lincRNA NM_207381.2 NP_997264.2 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 8-like 3 217 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) TTCCTATCGAAGGTGTATTCC 0.547000 18 40 0 0 0.000566183 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37678626 37678626 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr13:37678626G>A ENST00000379800.3 - 1 1177 c.768C>T c.(766-768)ttC>ttT p.F256F NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 256 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity p.F256F(2) NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) AGTACATGGCGAATTCTGCAG 0.433000 43 48 0 0 0.000437636 0 0 SERPINA5 5104 broad.mit.edu 37 14 95053711 95053711 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:95053711C>T ENST00000329597.7 + 3 222 c.12C>T c.(10-12)ttC>ttT p.F4F SERPINA5_ENST00000553780.1_Silent_p.F4F|SERPINA5_ENST00000554866.1_Silent_p.F4F|SERPINA5_ENST00000554276.1_Silent_p.F4F NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 4 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) TGCAGCTCTTCCTCCTCTTGT 0.587000 29 64 0 0 0.00058488 0 0 GFRAL 389400 broad.mit.edu 37 6 55216368 55216368 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:55216368G>A ENST00000340465.2 + 5 774 c.688G>A c.(688-690)Gat>Aat p.D230N NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 230 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CTGCCAAAATGATGAATTATG 0.423000 11 36 0 0 0.000978159 0 0 CLPSL1 340204 broad.mit.edu 37 6 35754864 35754864 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:35754864G>A ENST00000373861.5 + 2 283 c.189G>A c.(187-189)gaG>gaA p.E63E CLPSL1_ENST00000542261.1_Silent_p.E62E A2RUU4 CF127_HUMAN colipase-like 1 63 digestion|lipid catabolic process extracellular region enzyme activator activity ACTGCGCGGAGAAGGGGTCCG 0.662000 8 47 0 0 0.000442599 0 0 TLR2 7097 broad.mit.edu 37 4 154626372 154626372 + Silent SNP G G C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:154626372G>C ENST00000260010.6 + 1 3721 c.2313G>C c.(2311-2313)cgG>cgC p.R771R NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 771 TIR. cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) AGGCTCAGCGGGAAGGATTTT 0.473000 27 16 0 0 0.00127121 0 0 SLC9A7 84679 broad.mit.edu 37 X 46521567 46521567 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:46521567C>T ENST00000328306.4 - 7 950 c.925G>A c.(925-927)Gga>Aga p.G309R NM_001257291.1|NM_032591.2 NP_001244220.1|NP_115980.1 Q96T83 SL9A7_HUMAN solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 309 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 GTGTTCAGTCCCGCTGGCTGG 0.408000 6 20 0 0 0.000157383 0 0 OR2G2 81470 broad.mit.edu 37 1 247752385 247752385 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:247752385G>A ENST00000320065.1 + 1 724 c.724G>A c.(724-726)Ggg>Agg p.G242R RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G242W(1) endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GAAAGCATTCGGGACCTGCTT 0.502000 32 52 0 0 0.00178596 0 0 PKD1L1 168507 broad.mit.edu 37 7 47894550 47894550 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:47894550C>T ENST00000289672.2 - 30 4839 c.4789G>A c.(4789-4791)Gaa>Aaa p.E1597K NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1597 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 TGTAGAGATTCCTGGGGGTTT 0.393000 33 78 0 0 0.000491102 0 0 OR52E4 390081 broad.mit.edu 37 11 5906158 5906158 + Silent SNP G G A rs145588560 TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:5906158G>A ENST00000316987.2 + 1 658 c.636G>A c.(634-636)gtG>gtA p.V212V NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTGTGGATGTGATCTTAATTG 0.453000 28 22 0 0 0.00148497 0 0 TMPRSS12 283471 broad.mit.edu 37 12 51281090 51281090 + Missense_Mutation SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:51281090A>G ENST00000398458.3 + 5 873 c.841A>G c.(841-843)Aga>Gga p.R281G TMPRSS12_ENST00000551456.1_3'UTR NM_182559.2 NP_872365.1 Q86WS5 TMPSC_HUMAN transmembrane (C-terminal) protease, serine 12 281 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 18 AGAATATAAAAGATTTTTTGT 0.408000 17 33 0 0 0.000422831 0 0 MAST3 23031 broad.mit.edu 37 19 18233517 18233517 + Missense_Mutation SNP C C A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:18233517C>A ENST00000262811.5 + 5 268 c.268C>A c.(268-270)Cca>Aca p.P90T NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 90 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 CGCGTCTCTCCCATCTTCCGG 0.612000 4 7 0.000602214 0.00336804 0.000602214 1 0 MCM2 4171 broad.mit.edu 37 3 127336175 127336175 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:127336175C>T ENST00000265056.7 + 11 2071 c.1827C>T c.(1825-1827)atC>atT p.I609I NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 609 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 AACAGAGCATCTCCATCTCGA 0.582000 14 20 0 0 0.000958276 0 0 CACNA1B 774 broad.mit.edu 37 9 140991008 140991008 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr9:140991008C>T ENST00000277549.5 + 37 5318 c.2749C>T c.(2749-2751)Cct>Tct p.P917S CACNA1B_ENST00000277551.2_Missense_Mutation_p.P1723S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.P1724S|CACNA1B_ENST00000371357.1_Missense_Mutation_p.P1722S|CACNA1B_ENST00000371363.1_Missense_Mutation_p.P1721S|CACNA1B_ENST00000371365.2_Missense_Mutation_p.P87S|CACNA1B_ENST00000371372.1_Missense_Mutation_p.P1723S Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1723 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CATCCTAGGTCCTCACCACTT 0.557000 27 9 0 0 0.001512 0 0 COL9A1 1297 broad.mit.edu 37 6 71004230 71004230 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:71004230G>A ENST00000357250.6 - 5 494 c.336C>T c.(334-336)tcC>tcT p.S112S COL9A1_ENST00000370496.3_Silent_p.S112S NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 112 Nonhelical region (NC4).|TSP N-terminal. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 TCGTCAAGAAGGAGTATTCTT 0.393000 42 84 0 0 0.000781405 0 0 HCN2 610 broad.mit.edu 37 19 614010 614010 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:614010C>T ENST00000251287.2 + 7 2037 c.1984C>T c.(1984-1986)Cgc>Tgc p.R662C NM_001194.3 NP_001185.3 Q9UL51 HCN2_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 2 662 cell-cell signaling|muscle contraction voltage-gated potassium channel complex cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity endometrium(5)|lung(4) 9 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGCCTGGACCGCATCGGTGA 0.706000 4 14 0 0 0.00024832 0 0 F5 2153 broad.mit.edu 37 1 169511239 169511239 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:169511239C>T ENST00000367796.3 - 13 3305 c.3104G>A c.(3103-3105)cGa>cAa p.R1035Q F5_ENST00000367797.3_Missense_Mutation_p.R1030Q P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1030 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TTTCTTTTTTCGTGTCTTAAT 0.408000 57 116 0 0 0.000781405 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204197962 204197962 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:204197962G>A ENST00000272203.3 - 20 3095 c.2779C>T c.(2779-2781)Cct>Tct p.P927S PLEKHA6_ENST00000414478.1_Missense_Mutation_p.P947S NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 927 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) TACCGTTCAGGGATGAGGACT 0.567000 13 43 0 0 0.000151284 0 0 CACNA1E 777 broad.mit.edu 37 1 181727957 181727957 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:181727957G>A ENST00000526775.1 + 31 4666 c.4501G>A c.(4501-4503)Gtg>Atg p.V1501M CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1471M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1452M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1127M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1501M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1520M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1520M NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1520 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 CTTCACCATGGTGTTTTCCCT 0.473000 36 49 0 0 0.000680045 0 0 RPH3A 22895 broad.mit.edu 37 12 113328703 113328703 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:113328703C>T ENST00000389385.4 + 19 2167 c.1670C>T c.(1669-1671)tCc>tTc p.S557F RPH3A_ENST00000548866.1_Missense_Mutation_p.S508F|RPH3A_ENST00000551052.1_Missense_Mutation_p.S553F|RPH3A_ENST00000543106.2_Missense_Mutation_p.S557F|RPH3A_ENST00000447659.2_Missense_Mutation_p.S508F|RPH3A_ENST00000415485.3_Missense_Mutation_p.S557F|RPH3A_ENST00000420983.2_Missense_Mutation_p.S557F|RPH3A_ENST00000549913.2_3'UTR NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 557 C2 2. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) ATCCTGGTCTCCCTCATGTAC 0.602000 7 12 0 0 0.000157383 0 0 HTR3B 9177 broad.mit.edu 37 11 113780017 113780017 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr11:113780017G>A ENST00000537778.1 + 1 304 c.20G>A c.(19-21)gGa>gAa p.G7E HTR3B_ENST00000260191.2_Splice_Site_p.G18_splice O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 18 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) TATTTTCCAGGAATTCTAGCC 0.388000 32 15 0 0 0.000409698 0 0 FAM101A 144347 broad.mit.edu 37 12 124796378 124796378 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:124796378C>T ENST00000389727.3 + 2 222 c.222C>T c.(220-222)ctC>ctT p.L74L RP11-522N14.1_ENST00000540762.1_RNA|FAM101A_ENST00000338359.4_5'UTR|FAM101A_ENST00000546355.1_5'UTR|FAM101A_ENST00000324038.3_5'UTR Q6ZTI6 F101A_HUMAN family with sequence similarity 101, member A 74 endometrium(1)|kidney(1)|lung(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059) CCTCCCAACTCCCAAATCCCC 0.642000 7 4 0 0 8.12818e-05 0 0 PGM1 5236 broad.mit.edu 37 1 64095113 64095113 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:64095113C>T ENST00000371083.4 + 2 686 c.318C>T c.(316-318)atC>atT p.I106I PGM1_ENST00000371084.3_Silent_p.I88I|PGM1_ENST00000540265.1_5'UTR NM_001172818.1 NP_001166289.1 P36871 PGM1_HUMAN phosphoglucomutase 1 88 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 GCTTGGTTATCGGACAGAATG 0.473000 46 72 0 0 0.000781405 0 0 ARHGAP6 395 broad.mit.edu 37 X 11160413 11160413 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:11160413C>T ENST00000337414.4 - 12 3069 c.2197G>A c.(2197-2199)Gat>Aat p.D733N ARHGAP6_ENST00000380736.1_Missense_Mutation_p.D530N|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.D530N|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.D558N NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 733 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CCCCAGATATCGAAAGGCTCC 0.313000 40 85 0 0 0.000781405 0 0 MXRA5 25878 broad.mit.edu 37 X 3238523 3238523 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:3238523T>A ENST00000217939.6 - 5 5357 c.5203A>T c.(5203-5205)Aac>Tac p.N1735Y NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1735 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) AGAGTCTTGTTGGTAAAGAAA 0.463000 12 24 0 0 0.000978159 0 0 NRK 203447 broad.mit.edu 37 X 105150462 105150462 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:105150462C>T ENST00000428173.2 + 11 1204 c.901C>T c.(901-903)Cgt>Tgt p.R301C NRK_ENST00000243300.9_Missense_Mutation_p.R301C Q7Z2Y5 NRK_HUMAN Nik related kinase 301 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 TTTCCTGTTTCGTCCTACTTC 0.363000 HNSCC(51;0.14) 8 12 0 0 0.000157383 0 0 CCDC146 57639 broad.mit.edu 37 7 76908140 76908140 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:76908140A>T ENST00000285871.4 + 12 1639 c.1512A>T c.(1510-1512)aaA>aaT p.K504N CCDC146_ENST00000431197.1_Missense_Mutation_p.K218N|CCDC146_ENST00000415740.2_3'UTR NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 504 Poly-Lys. breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) AGAAGAAAAAATGTGAAATTT 0.299000 24 44 0 0 0.000375601 0 0 GRIK1 2897 broad.mit.edu 37 21 30949456 30949456 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr21:30949456C>T ENST00000399914.1 - 13 2434 c.1913G>A c.(1912-1914)gGg>gAg p.G638E GRIK1_ENST00000389125.3_Missense_Mutation_p.G638E|GRIK1_ENST00000399909.1_Missense_Mutation_p.G638E|GRIK1_ENST00000399913.1_Missense_Mutation_p.G653E|GRIK1_ENST00000309434.7_Missense_Mutation_p.G655E|GRIK1_ENST00000389124.2_Missense_Mutation_p.G653E|GRIK1_ENST00000327783.4_Missense_Mutation_p.G653E|GRIK1_ENST00000399907.1_Missense_Mutation_p.G653E|GRIK1_ENST00000535441.1_Missense_Mutation_p.G655E P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 653 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CCACCATATCCCTCCAACTAT 0.463000 23 64 0 0 0.00047179 0 0 RELB 5971 broad.mit.edu 37 19 45515487 45515487 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:45515487C>T ENST00000221452.8 + 4 607 c.457C>T c.(457-459)Ctt>Ttt p.L153F RELB_ENST00000505236.1_Missense_Mutation_p.L150F|RELB_ENST00000540120.1_Missense_Mutation_p.L153F NM_006509.3 NP_006500.2 Q01201 RELB_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog B 153 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) CGGCAGCATCCTTGGGGAGAG 0.756000 17 33 0 0 0.00152264 0 0 HEY2 23493 broad.mit.edu 37 6 126080650 126080650 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:126080650G>A ENST00000368364.3 + 5 913 c.716G>A c.(715-717)cGa>cAa p.R239Q HEY2_ENST00000368365.1_Missense_Mutation_p.R193Q NM_012259.2 NP_036391.1 Q9UBP5 HEY2_HUMAN hes-related family bHLH transcription factor with YRPW motif 2 239 negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1)|large_intestine(7)|lung(5)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) TCAGCCCTCCGAATGCCATCC 0.657000 55 105 0 0 0.000781405 0 0 HTT 3064 broad.mit.edu 37 4 3129175 3129175 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr4:3129175C>T ENST00000355072.5 + 12 1732 c.1587C>T c.(1585-1587)atC>atT p.I529I NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 529 Cleavage; by apopain (Potential). establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) AGGAGGATATCTTGAGCCACA 0.612000 14 35 0 0 0.000219431 0 0 DGKG 1608 broad.mit.edu 37 3 185969597 185969597 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr3:185969597C>T ENST00000265022.3 - 19 2251 c.1712G>A c.(1711-1713)gGg>gAg p.G571E DGKG_ENST00000544847.1_Missense_Mutation_p.G512E|DGKG_ENST00000382164.4_Missense_Mutation_p.G532E|DGKG_ENST00000344484.4_Missense_Mutation_p.G546E NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 571 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) GACCTGGTCCCCGTTTTCCAC 0.507000 44 64 0 0 0.000509022 0 0 ALDH18A1 5832 broad.mit.edu 37 10 97388166 97388166 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:97388166C>T ENST00000371224.2 - 8 1029 c.892G>A c.(892-894)Gga>Aga p.G298R ALDH18A1_ENST00000371221.3_Missense_Mutation_p.G296R NM_002860.3 NP_002851.2 P54886 P5CS_HUMAN aldehyde dehydrogenase 18 family, member A1 298 Glutamate 5-kinase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) GACTTGGTTCCAAATGTCACA 0.413000 51 48 0 0 0.000781405 0 0 IDS 3423 broad.mit.edu 37 X 148584859 148584859 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:148584859C>T ENST00000340855.6 - 3 610 c.401G>A c.(400-402)gGa>gAa p.G134E IDS_ENST00000370443.4_Missense_Mutation_p.G134E|IDS_ENST00000370441.4_Missense_Mutation_p.G134E|IDS_ENST00000428056.2_Missense_Mutation_p.G134E|IDS_ENST00000490775.1_5'UTR|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000541269.1_Intron NM_000202.5|NM_001166550.1 NP_000193.1|NP_001160022.1 P22304 IDS_HUMAN iduronate 2-sulfatase 134 G -> R (in MPS2; severe form). lysosome iduronate-2-sulfatase activity|metal ion binding NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1) 20 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) AAAGACTTTTCCCACCGACAT 0.537000 9 21 0 0 0.000978159 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147914545 147914545 + Missense_Mutation SNP A A C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:147914545A>C ENST00000361727.3 + 19 3692 c.3176A>C c.(3175-3177)aAg>aCg p.K1059T CNTNAP2_ENST00000538075.1_Missense_Mutation_p.K118T NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1059 Laminin G-like 4. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AGCACCACCAAGGCGCCCTGC 0.587000 HNSCC(39;0.1) 52 55 0 0 0.000781405 0 0 GCOM1 145781 broad.mit.edu 37 15 57910263 57910263 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:57910263G>A ENST00000574161.1 + 3 314 c.195G>A c.(193-195)agG>agA p.R65R GCOM1_ENST00000380561.2_Silent_p.R65R|GCOM1_ENST00000380568.3_Silent_p.R65R|GCOM1_ENST00000587652.1_Silent_p.R65R|MYZAP_ENST00000267853.5_Silent_p.R65R|MYZAP_ENST00000380565.4_Silent_p.R65R|GCOM1_ENST00000396180.1_Silent_p.R65R|GCOM1_ENST00000380569.2_Silent_p.R65R|GCOM1_ENST00000380560.2_Silent_p.R65R|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000572390.1_Silent_p.R65R NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 65 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 AACCTACCAGGAAACTTCCTC 0.423000 18 34 0 0 0.000295444 0 0 ZFP57 346171 broad.mit.edu 37 6 29640508 29640508 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:29640508C>T ENST00000376883.1 - 6 1731 c.1320G>A c.(1318-1320)agG>agA p.R440R ZFP57_ENST00000376881.3_Silent_p.R440R|ZFP57_ENST00000488757.1_Silent_p.R460R Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 376 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding p.R440S(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 CTTTATAGCCCCTCCAGTGAT 0.557000 21 47 0 0 0.00152264 0 0 KIAA1804 84451 broad.mit.edu 37 1 233512253 233512253 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:233512253C>T ENST00000366624.3 + 8 2165 c.1904C>T c.(1903-1905)tCa>tTa p.S635L MLK4_ENST00000366622.1_Missense_Mutation_p.S81L NM_032435.2 NP_115811.2 CCCTTGGCTTCATTGTTTGTG 0.413000 11 34 0 0 0.000151284 0 0 MAEL 84944 broad.mit.edu 37 1 166990344 166990344 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:166990344G>A ENST00000367872.4 + 11 1308 c.1064G>A c.(1063-1065)gGa>gAa p.G355E MAEL_ENST00000367870.2_Missense_Mutation_p.G324E|MAEL_ENST00000491055.1_3'UTR NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 355 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 GGGAGTTCAGGATTCTCTCAT 0.358000 27 34 0 0 0.00178596 0 0 DPYS 1807 broad.mit.edu 37 8 105405064 105405064 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:105405064G>A ENST00000351513.2 - 8 1523 c.1391C>T c.(1390-1392)cCt>cTt p.P464L DPYS_ENST00000521601.1_Intron NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 464 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TGGTTTTCGAGGAATAAACTT 0.493000 45 106 0 0 0.000589545 0 0 RP1L1 94137 broad.mit.edu 37 8 10469042 10469042 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr8:10469042G>A ENST00000382483.3 - 4 2789 c.2566C>T c.(2566-2568)Ccg>Tcg p.P856S NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 856 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CCCCTGGGCGGGGTGGGACAG 0.726000 5 2 0 0 0.00116845 0 0 MCL1 4170 broad.mit.edu 37 1 150551359 150551359 + Silent SNP A A G TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:150551359A>G ENST00000369026.2 - 1 707 c.648T>C c.(646-648)gtT>gtC p.V216V MCL1_ENST00000307940.3_Silent_p.V216V NM_001197320.1|NM_021960.4 NP_001184249.1|NP_068779.1 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 (BCL2-related) 216 anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity endometrium(2)|large_intestine(1)|lung(4)|prostate(1) 8 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CGCCATCCCCAACCCGTCGTA 0.622000 13 35 0 0 0.000151284 0 0 PSMB11 122706 broad.mit.edu 37 14 23512187 23512187 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:23512187C>T ENST00000408907.2 + 1 812 c.753C>T c.(751-753)ctC>ctT p.L251L NM_001099780.1 NP_001093250.1 A5LHX3 PSB11_HUMAN proteasome (prosome, macropain) subunit, beta type, 11 251 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|kidney(2)|lung(4) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00643) TACAGAAGCTCCTGGAGCCGG 0.602000 7 15 0 0 8.12818e-05 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58549234 58549234 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:58549234C>T ENST00000282326.1 + 3 277 c.30C>T c.(28-30)tcC>tcT p.S10S ZSCAN1_ENST00000391700.1_Silent_p.S10S|ZSCAN1_ENST00000601162.1_Silent_p.S10S NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 10 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCCCTGCCTCCCCCAGACGCC 0.677000 5 1 0 0 0.000602214 0 0 C1orf87 127795 broad.mit.edu 37 1 60463316 60463316 + Missense_Mutation SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:60463316T>C ENST00000371201.3 - 11 1552 c.1445A>G c.(1444-1446)gAa>gGa p.E482G C1orf87_ENST00000395552.1_Missense_Mutation_p.E116G|C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Missense_Mutation_p.E253G NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 482 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GAGGGCATTTTCCAGCTTCCT 0.463000 28 47 0 0 0.000339439 0 0 BRWD3 254065 broad.mit.edu 37 X 79937548 79937548 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:79937548G>A ENST00000373275.4 - 39 4659 c.4443C>T c.(4441-4443)gaC>gaT p.D1481D BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1481 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 AGGTATTCTGGTCATTTTTAG 0.363000 30 60 0 0 0.00111076 0 0 FFAR3 2865 broad.mit.edu 37 19 35850524 35850524 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr19:35850524C>T ENST00000327809.4 + 2 933 c.732C>T c.(730-732)tcC>tcT p.S244S FFAR3_ENST00000594310.1_Silent_p.S244S NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 244 integral to plasma membrane G-protein coupled receptor activity|lipid binding endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) ACAACGTGTCCCATGTCGTGG 0.622000 32 87 0 0 0.000953801 0 0 CYP2C18 1562 broad.mit.edu 37 10 96480239 96480239 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:96480239G>A ENST00000285979.6 + 6 1105 c.906G>A c.(904-906)acG>acA p.T302T CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Silent_p.T243T NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) CAGAGACAACGAGCACCACTC 0.423000 25 19 0 0 0.00106085 0 0 AHNAK2 113146 broad.mit.edu 37 14 105412741 105412741 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr14:105412741G>A ENST00000333244.5 - 7 9166 c.9047C>T c.(9046-9048)tCc>tTc p.S3016F AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3016 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCCTGCATGGAGGGGAGGCT 0.632000 60 109 0 0 0.000781405 0 0 LMOD2 442721 broad.mit.edu 37 7 123302262 123302262 + Missense_Mutation SNP A A T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr7:123302262A>T ENST00000458573.2 + 2 779 c.622A>T c.(622-624)Agc>Tgc p.S208C LMOD2_ENST00000456238.2_Intron NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 208 cytoskeleton actin binding|tropomyosin binding CAAGATTAAAAGCAATGACCC 0.473000 10 37 0 0 0.000673444 0 0 GPR98 84059 broad.mit.edu 37 5 89990185 89990185 + Missense_Mutation SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr5:89990185T>A ENST00000405460.2 + 33 7708 c.7612T>A c.(7612-7614)Ttt>Att p.F2538I NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2538 Calx-beta 17. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GGATGAGAGTTTTCTAATTTC 0.418000 24 50 0 0 0.00047179 0 0 BRAP 8315 broad.mit.edu 37 12 112121036 112121036 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:112121036G>A ENST00000419234.4 - 2 351 c.158C>T c.(157-159)cCa>cTa p.P53L BRAP_ENST00000327551.6_Missense_Mutation_p.P23L NM_006768.3 NP_006759.3 Q7Z569 BRAP_HUMAN BRCA1 associated protein 53 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 20 TTTCTCTCCTGGTGACTTGCC 0.438000 56 98 0 0 0.000781405 0 0 EXOC6 54536 broad.mit.edu 37 10 94594495 94594495 + Translation_Start_Site SNP G G A rs77134517 byFrequency TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr10:94594495G>A ENST00000371552.4 + 0 29 EXOC6_ENST00000371547.4_Silent_p.A21A NM_001013848.2 NP_001013870.1 Q8TAG9 EXOC6_HUMAN exocyst complex component 6 protein transport|vesicle docking involved in exocytosis exocyst cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 26 Colorectal(252;0.123) CCTGTCGAGCGATGTTGGAAG 0.383000 104 50 0 0 0.000781405 0 0 SCNN1A 6337 broad.mit.edu 37 12 6464564 6464564 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr12:6464564G>A ENST00000358945.3 - 5 1457 c.1017C>T c.(1015-1017)ttC>ttT p.F339F SCNN1A_ENST00000543768.1_Silent_p.F362F|SCNN1A_ENST00000396966.2_Silent_p.F339F|SCNN1A_ENST00000228916.2_Silent_p.F339F|SCNN1A_ENST00000360168.3_Silent_p.F398F|SCNN1A_ENST00000540037.1_Silent_p.F39F|SCNN1A_ENST00000538979.1_5'UTR P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 339 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) GCAGGGGAATGAAGTCATTCT 0.572000 6 13 0 0 8.12818e-05 0 0 KIAA1468 57614 broad.mit.edu 37 18 59895551 59895551 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr18:59895551C>T ENST00000256858.6 + 8 1416 c.1168C>T c.(1168-1170)Ctc>Ttc p.L390F KIAA1468_ENST00000398130.2_Missense_Mutation_p.L390F Q9P260 K1468_HUMAN KIAA1468 390 binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) AATGGACTTCCTCAAAAATGA 0.403000 32 67 0 0 0.00058488 0 0 FHL1 2273 broad.mit.edu 37 X 135288748 135288748 + Splice_Site SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chrX:135288748G>A ENST00000543669.1 + 2 867 c.e2+1 FHL1_ENST00000370690.3_Splice_Site|FHL1_ENST00000394153.2_Splice_Site|FHL1_ENST00000370676.3_Splice_Site|FHL1_ENST00000370683.1_Splice_Site|FHL1_ENST00000477080.1_Splice_Site|FHL1_ENST00000394155.2_Splice_Site|FHL1_ENST00000345434.3_Splice_Site|FHL1_ENST00000535737.1_Splice_Site|FHL1_ENST00000539015.1_Splice_Site NM_001159704.1 NP_001153176.1 Q13642 FHL1_HUMAN four and a half LIM domains 1 cell differentiation|cell growth|muscle organ development|organ morphogenesis cytosol|nucleus|plasma membrane protein binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(192;0.000127) GGACTCCAAGGTAACGGGCAT 0.557000 40 71 0 0 0.000589545 0 0 GNAI3 2773 broad.mit.edu 37 1 110116536 110116537 + Frame_Shift_Ins INS - - TA TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr1:110116536_110116537insTA ENST00000369851.4 + 3 290_291 c.180_181insTA c.(178-183)ggattcfs p.F61fs NM_006496.3 NP_006487.1 P08754 GNAI3_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 61 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237) ATGAGGATGGCTATTCAGAGGA 0.342 14 42 --- --- --- --- NDUFAF4 29078 broad.mit.edu 37 6 97339122 97339122 + Frame_Shift_Del DEL A A - TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr6:97339122delA ENST00000316149.7 - 3 465 c.386delT c.(385-387)tcfs p.F129fs NDUFAF4_ENST00000489477.1_5'UTR NM_014165.3 NP_054884.1 Q9P032 NDUF4_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 129 mitochondrial respiratory chain complex I assembly mitochondrial membrane calmodulin binding p.F129S(1) large_intestine(5)|lung(3)|ovary(1)|skin(1) 10 GGTTTCTGGGAAAAGCTTATG 0.333 24 60 --- --- --- --- ARIH1 25820 broad.mit.edu 37 15 72837239 72837241 + In_Frame_Del DEL GAT GAT - TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:72837239_72837241delGAT ENST00000379887.4 + 3 836_838 c.522_524delGAT c.(520-525)cag>ca p.QM174del NM_005744.3 NP_005735.2 Q9Y4X5 ARI1_HUMAN ariadne RBR E3 ubiquitin protein ligase 1 174 ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 14 GAACACGCCAGATGAATACAAGG 0.414 19 62 --- --- --- --- SYNM 23336 broad.mit.edu 37 15 99645432 99645432 + Frame_Shift_Del DEL C C - TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr15:99645432delC ENST00000336292.6 + 1 147 c.27delC c.(25-27)ggfs p.G9fs SYNM_ENST00000561323.1_3'UTR|RP11-654A16.3_ENST00000559468.1_RNA|SYNM_ENST00000328642.7_Frame_Shift_Del_p.G9fs|SYNM_ENST00000560674.1_Intron NM_145728.2 NP_663780.2 O15061 SYNEM_HUMAN synemin, intermediate filament protein 9 Head. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 TGCAGACGGGCCCCGAGAAGG 0.687 2 4 --- --- --- --- MINK1 50488 broad.mit.edu 37 17 4790980 4790982 + In_Frame_Del DEL GCA GCA - TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx de7f226f-27a0-4e47-a39d-78b143ba64c5 0769ed5d-994a-4e62-a677-28c028d051f1 g.chr17:4790980_4790982delGCA ENST00000355280.6 + 12 1321_1323 c.1125_1127delGCA c.(1123-1128)ctg>ct p.LQ375del MINK1_ENST00000347992.7_In_Frame_Del_p.LQ375del|MINK1_ENST00000453408.3_In_Frame_Del_p.LQ375del NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 375 JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 agcagcagctgcagcagcagcag 0.606 2 4 --- --- --- ---