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 EPHX1 2052 broad.mit.edu 37 1 226030140 226030140 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:226030140G>T ENST00000366837.4 + 7 1201 c.1005G>T c.(1003-1005)acG>acT p.T335T RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Silent_p.T335T NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 335 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) GGACCAATACGGAATTCCGAT 0.582000 23 51 1.77063e-15 2.72621e-15 0.108266 1 0 GLRX3 10539 broad.mit.edu 37 10 131965194 131965194 + Silent SNP A A G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:131965194A>G ENST00000368644.1 + 6 685 c.663A>G c.(661-663)gcA>gcG p.A221A GLRX3_ENST00000331244.5_Silent_p.A221A NM_001199868.1 NP_001186797.1 O76003 GLRX3_HUMAN glutaredoxin 3 221 Glutaredoxin 1. cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction cell cortex electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(5)|lung(7) 13 all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222) OV - Ovarian serous cystadenocarcinoma(35;0.00218) AGCTAGAAGCATCTGAAGAAC 0.289000 12 27 0 0 0.093190 0 0 MKL2 57496 broad.mit.edu 37 16 14334639 14334639 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr16:14334639C>T ENST00000573051.1 + 9 1252 c.1094C>T c.(1093-1095)tCt>tTt p.S365F MKL2_ENST00000571589.1_Intron|MKL2_ENST00000341243.5_Intron|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000572567.1_3'UTR Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 0 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACTAGATGCTCTGAGAAAAGC 0.363000 7 22 0 0 0.029380 0 0 FAIM2 23017 broad.mit.edu 37 12 50290860 50290860 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:50290860C>A ENST00000320634.3 - 5 482 c.388G>T c.(388-390)Gtc>Ttc p.V130F FAIM2_ENST00000550890.1_Missense_Mutation_p.V84F NM_012306.3 NP_036438.2 Q9BWQ8 FAIM2_HUMAN Fas apoptotic inhibitory molecule 2 130 anti-apoptosis|apoptosis cell junction|integral to membrane|postsynaptic membrane endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2) 14 TAGTCCTTGACAGGGTCACTG 0.532000 24 60 9.57634e-11 1.31449e-10 0.083992 1 0 FAM105A 54491 broad.mit.edu 37 5 14601073 14601073 + Splice_Site SNP G G C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:14601073G>C ENST00000274217.3 + 2 184 c.e2-1 NM_019018.2 NP_061891.1 Q9NUU6 F105A_HUMAN family with sequence similarity 105, member A large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Lung NSC(4;0.00592) AATTTTCATAGGAAGTGACCA 0.353000 16 24 0 0 0.028581 0 0 LARP4B 23185 broad.mit.edu 37 10 863720 863720 + Missense_Mutation SNP T T A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:863720T>A ENST00000316157.3 - 14 1680 c.1640A>T c.(1639-1641)gAg>gTg p.E547V NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 547 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 AAACAAGTCCTCTGTCTTCAA 0.493000 57 174 0 0 0.048971 0 0 LRRC40 55631 broad.mit.edu 37 1 70611486 70611486 + Silent SNP A A C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:70611486A>C ENST00000370952.3 - 15 1885 c.1806T>G c.(1804-1806)acT>acG p.T602T NM_017768.4 NP_060238.3 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 602 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2) 27 CTCCATGTTAAGTAGGAATTC 0.358000 11 26 0 0 0.105934 0 0 OR10J1 26476 broad.mit.edu 37 1 159410229 159410229 + Silent SNP T T C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:159410229T>C ENST00000423932.3 + 1 718 c.681T>C c.(679-681)tcT>tcC p.S227S RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 227 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TTTTCATTTCTTATGTTCTCA 0.453000 36 139 0 0 0.069456 0 0 AHNAK 79026 broad.mit.edu 37 11 62285076 62285076 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:62285076C>A ENST00000378024.4 - 5 17087 c.16813G>T c.(16813-16815)Gct>Tct p.A5605S AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5605 Gly-rich. 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) AAGTTGAGAGCAGAGGAGACT 0.542000 37 177 6.97489e-18 1.13391e-17 0.074837 1 0 KIF11 3832 broad.mit.edu 37 10 94381209 94381209 + Missense_Mutation SNP A A G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:94381209A>G ENST00000260731.3 + 10 1286 c.1196A>G c.(1195-1197)tAt>tGt p.Y399C NM_004523.3 NP_004514.2 P52732 KIF11_HUMAN kinesin family member 11 399 blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AATGGAGTGTATATTTCTGAA 0.373000 24 65 0 0 0.091800 0 0 KALRN 8997 broad.mit.edu 37 3 124211723 124211723 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr3:124211723G>A ENST00000360013.3 + 32 4947 c.4820G>A c.(4819-4821)aGt>aAt p.S1607N KALRN_ENST00000460856.1_Missense_Mutation_p.S1598N|KALRN_ENST00000240874.3_Missense_Mutation_p.S1607N NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1607 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AGGAACAATAGTAAGAGGTAA 0.507000 20 42 0 0 0.055883 0 0 TMEM81 388730 broad.mit.edu 37 1 205053097 205053097 + Missense_Mutation SNP G G C rs145019132 byFrequency TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:205053097G>C ENST00000367167.3 - 1 548 c.352C>G c.(352-354)Cgg>Ggg p.R118G NM_203376.1 NP_976310.1 Q6P7N7 TMM81_HUMAN transmembrane protein 81 118 Ig-like. integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 9 all_cancers(21;0.144)|Breast(84;0.0437) BRCA - Breast invasive adenocarcinoma(75;0.0923) CAGGTGAACCGGAAAGCTTCC 0.468000 24 79 0 0 0.083992 0 0 POLE 5426 broad.mit.edu 37 12 133256567 133256567 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:133256567C>A ENST00000320574.5 - 5 439 c.396G>T c.(394-396)gaG>gaT p.E132D POLE_ENST00000535270.1_Missense_Mutation_p.E105D NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 132 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) TGGGGACAGTCTCCACTTTTG 0.468000 DNA polymerases (catalytic subunits) 21 50 5.35356e-11 7.38334e-11 0.076483 1 0 INPP4B 8821 broad.mit.edu 37 4 143159166 143159166 + Splice_Site SNP T T C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:143159166T>C ENST00000513000.1 - 13 1122 c.e13-2 INPP4B_ENST00000509777.1_Splice_Site|INPP4B_ENST00000262992.4_Splice_Site|INPP4B_ENST00000308502.4_Splice_Site|INPP4B_ENST00000508116.1_Splice_Site NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) TCTTTAACACTGGAAAAAAAA 0.313000 4 19 0 0 0.009096 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42438093 42438093 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr15:42438093C>T ENST00000397272.3 - 15 1640 c.1549G>A c.(1549-1551)Gag>Aag p.E517K PLA2G4F_ENST00000382396.4_Missense_Mutation_p.E515K NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 515 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GGCGTGAACTCGCACCACTCT 0.572000 26 72 0 0 0.108266 0 0 ZNF232 7775 broad.mit.edu 37 17 5009405 5009405 + Missense_Mutation SNP T T C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr17:5009405T>C ENST00000250076.3 - 5 1703 c.1049A>G c.(1048-1050)cAg>cGg p.Q350R ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Missense_Mutation_p.Q341R NM_014519.2 NP_055334.2 Q9UNY5 ZN232_HUMAN zinc finger protein 232 323 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2) 11 ATGAATTCTCTGATGCTGACC 0.453000 39 102 0 0 0.092188 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51920652 51920652 + Silent SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:51920652C>T ENST00000353836.5 - 2 326 c.105G>A c.(103-105)ctG>ctA p.L35L SIGLEC10_ENST00000442846.3_Silent_p.L35L|SIGLEC10_ENST00000432469.2_Silent_p.L35L|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Silent_p.L35L|SIGLEC10_ENST00000525998.1_Silent_p.L35L|SIGLEC10_ENST00000356298.5_Silent_p.L35L|SIGLEC10_ENST00000439889.2_Silent_p.L35L|SIGLEC10_ENST00000339313.5_Silent_p.L35L|SIGLEC10_ENST00000436984.2_Silent_p.L35L 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 35 Ig-like V-type. 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) CAGAGATGCACAGGCCCTCCG 0.582000 12 69 0 0 0.033300 0 0 SEMA6D 80031 broad.mit.edu 37 15 48058158 48058158 + Missense_Mutation SNP T T A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr15:48058158T>A ENST00000316364.5 + 14 1959 c.1520T>A c.(1519-1521)aTt>aAt p.I507N SEMA6D_ENST00000389428.3_Missense_Mutation_p.I507N|SEMA6D_ENST00000558816.1_Missense_Mutation_p.I507N|SEMA6D_ENST00000358066.4_Missense_Mutation_p.I507N|SEMA6D_ENST00000536845.2_Missense_Mutation_p.I507N|SEMA6D_ENST00000389433.2_Missense_Mutation_p.I507N|SEMA6D_ENST00000389432.2_Missense_Mutation_p.I507N|SEMA6D_ENST00000355997.3_Missense_Mutation_p.I507N|SEMA6D_ENST00000354744.4_Missense_Mutation_p.I507N|SEMA6D_ENST00000558014.1_Missense_Mutation_p.I507N|SEMA6D_ENST00000537942.1_Missense_Mutation_p.I507N NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 507 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TCTAGCTGCATTATCCGCATC 0.438000 36 102 0 0 0.069456 0 0 STEAP4 79689 broad.mit.edu 37 7 87912286 87912286 + Silent SNP A A G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:87912286A>G ENST00000380079.4 - 3 755 c.654T>C c.(652-654)tgT>tgC p.C218C STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000414498.1_Silent_p.C218C|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 218 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) CTCTTATAACACAATAGAAAA 0.373000 28 52 0 0 0.108266 0 0 BTAF1 9044 broad.mit.edu 37 10 93743990 93743990 + Silent SNP G G T rs139800193 TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:93743990G>T ENST00000265990.6 + 19 2564 c.2256G>T c.(2254-2256)ccG>ccT p.P752P BTAF1_ENST00000471217.1_3'UTR NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 752 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) CTGTGCAGCCGCGTTTACTTG 0.338000 10 37 7.48243e-07 8.74453e-07 0.058154 1 0 PCDHGB4 8641 broad.mit.edu 37 5 140769345 140769345 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:140769345G>T ENST00000519479.1 + 1 1894 c.1894G>T c.(1894-1896)Gac>Tac p.D632Y PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_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) TGCCTTAGGCGACAGGGACGC 0.697000 25 50 1.64293e-13 2.42687e-13 0.083992 1 0 ZNF695 57116 broad.mit.edu 37 1 247163244 247163244 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:247163244C>A ENST00000339986.7 - 2 283 c.136G>T c.(136-138)Gat>Tat p.D46Y ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Missense_Mutation_p.D46Y NM_020394.4 NP_065127.4 Q8IW36 ZN695_HUMAN zinc finger protein 695 46 KRAB. regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TTGAAGCTATCCTCACCAAGG 0.418000 10 46 3.07112e-06 3.50469e-06 0.080935 1 0 URB2 9816 broad.mit.edu 37 1 229772385 229772385 + Silent SNP A A G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:229772385A>G ENST00000258243.2 + 4 2161 c.2025A>G c.(2023-2025)gaA>gaG p.E675E NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 675 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 ATTGCTTAGAACAGCTGTACC 0.433000 41 138 0 0 0.086207 0 0 OR4C6 219432 broad.mit.edu 37 11 55433265 55433265 + Missense_Mutation SNP T T C rs146339011 TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:55433265T>C ENST00000314259.3 + 1 652 c.623T>C c.(622-624)aTc>aCc p.I208T NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TGTGTGGCCATCTTTCTTATC 0.493000 44 77 0 0 0.042209 0 0 STK11 6794 broad.mit.edu 37 19 1207079 1207079 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:1207079G>T ENST00000326873.7 + 1 1340 c.167G>T c.(166-168)gGg>gTg p.G56V STK11_ENST00000585748.1_Intron NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 56 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(3)|p.G56V(1)|p.E57fs*107(1)|p.G56fs*4(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GACCTGCTGGGGGAAGGCTCT 0.612000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 8 13 7.48243e-07 8.74453e-07 0.058154 1 0 ENPP7 339221 broad.mit.edu 37 17 77709293 77709293 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr17:77709293G>T ENST00000328313.5 + 3 1072 c.851G>T c.(850-852)gGg>gTg p.G284V NM_178543.3 NP_848638.2 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 284 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGACCAAACGGGATGCTGCTC 0.582000 17 53 3.41278e-10 4.61916e-10 0.033300 1 0 SLC38A8 146167 broad.mit.edu 37 16 84050184 84050184 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr16:84050184G>T ENST00000299709.3 - 8 1101 c.1102C>A c.(1102-1104)Ctc>Atc p.L368I NM_001080442.1 NP_001073911.1 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 368 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 ATCTCGCTGAGGTCAGGCATA 0.612000 17 51 2.48551e-13 3.65294e-13 0.033300 1 0 LAMB4 22798 broad.mit.edu 37 7 107752264 107752264 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:107752264G>T ENST00000388781.3 - 4 403 c.320C>A c.(319-321)tCt>tAt p.S107Y LAMB4_ENST00000414450.2_Missense_Mutation_p.S107Y|LAMB4_ENST00000388780.3_Missense_Mutation_p.S107Y|LAMB4_ENST00000205386.4_Missense_Mutation_p.S107Y NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 107 Laminin N-terminal. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 ACCATTTTCAGATTGCCACCA 0.343000 23 71 1.10923e-09 1.46057e-09 0.076483 1 0 RTN1 6252 broad.mit.edu 37 14 60194214 60194214 + Silent SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr14:60194214G>A ENST00000267484.5 - 3 1523 c.1188C>T c.(1186-1188)ccC>ccT p.P396P NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 396 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) CCAGGGGGCTGGGGATGGTTG 0.692000 8 10 0 0 0.038147 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146829511 146829511 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:146829511G>T ENST00000361727.3 + 8 1774 c.1258G>T c.(1258-1260)Ggc>Tgc p.G420C NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 420 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GGATAATTTGGGCAATGTGGA 0.478000 HNSCC(39;0.1) 13 46 7.03913e-09 8.82925e-09 0.093190 1 0 RPS6KL1 83694 broad.mit.edu 37 14 75388072 75388072 + Missense_Mutation SNP C C A rs146920707 byFrequency TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr14:75388072C>A ENST00000555647.1 - 3 460 c.173G>T c.(172-174)cGg>cTg p.R58L RPS6KL1_ENST00000358328.4_Missense_Mutation_p.R58L|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.R58L|RPS6KL1_ENST00000554900.1_5'UTR|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.R58L Q9Y6S9 RPKL1_HUMAN ribosomal protein S6 kinase-like 1 58 ribosome ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(234;0.00658) CAGGGCCAGCCGGATCTGCGT 0.587000 20 79 1.01871e-10 1.39176e-10 0.049695 1 0 CCDC81 60494 broad.mit.edu 37 11 86130969 86130969 + Splice_Site SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:86130969G>T ENST00000278487.3 + 13 1975 c.e13-1 CCDC81_ENST00000445632.2_Splice_Site|CCDC81_ENST00000354755.1_Splice_Site|CCDC81_ENST00000528728.1_Splice_Site Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) TTTCTCTCCAGGCACTTGGCA 0.473000 10 41 1.58986e-06 1.82866e-06 0.069234 1 0 RAPGEFL1 51195 broad.mit.edu 37 17 38347009 38347009 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr17:38347009C>T ENST00000436615.3 + 8 1202 c.712C>T c.(712-714)Cat>Tat p.H238Y RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.H238Y|RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.H293Y|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.H287Y|RAPGEFL1_ENST00000540388.1_3'UTR NM_016339.3 NP_057423.1 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor (GEF)-like 1 444 G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 CCGATGTGTGCATGAGGTGGG 0.602000 29 119 0 0 0.045705 0 0 TBKBP1 9755 broad.mit.edu 37 17 45773563 45773563 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr17:45773563G>T ENST00000361722.3 + 1 934 c.85G>T c.(85-87)Gac>Tac p.D29Y NM_014726.2 NP_055541.1 A7MCY6 TBKB1_HUMAN TBK1 binding protein 1 29 innate immune response endometrium(5)|kidney(1)|lung(1) 7 CAGTCCCGGAGACCCCTCGCT 0.647000 30 36 3.99451e-17 6.42211e-17 0.041601 1 0 PCDHGA2 56113 broad.mit.edu 37 5 140720462 140720462 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:140720462C>A ENST00000394576.2 + 1 1924 c.1924C>A c.(1924-1926)Ctc>Atc p.L642I PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 p.L642I(2) 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) CAAGCAGAGCCTCGTGGTGGC 0.701000 52 110 1.66251e-12 2.395e-12 0.048971 1 0 NOD2 64127 broad.mit.edu 37 16 50744743 50744743 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr16:50744743G>T ENST00000300589.2 + 4 1026 c.921G>T c.(919-921)acG>acT p.T307T NOD2_ENST00000526417.2_3'UTR NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 307 NACHT. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) GCAAGAGCACGCTCCTGCAGC 0.627000 14 30 1.5842e-08 1.9701e-08 0.105934 1 0 LMNA 4000 broad.mit.edu 37 1 156084745 156084745 + Silent SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:156084745C>T ENST00000368300.4 + 1 248 c.36C>T c.(34-36)agC>agT p.S12S LMNA_ENST00000368301.2_Silent_p.S12S|LMNA_ENST00000368299.3_Silent_p.S12S|LMNA_ENST00000361308.4_Silent_p.S12S|LMNA_ENST00000347559.2_Silent_p.S12S NM_170707.3 NP_733821.1 P02545 LMNA_HUMAN lamin A/C 12 Head.|Interaction with MLIP. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) CCACCCGCAGCGGGGCGCAGG 0.736000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 15 10 0 0 0.033300 0 0 SPATA5 166378 broad.mit.edu 37 4 123949440 123949440 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:123949440G>T ENST00000274008.3 + 11 2038 c.1969G>T c.(1969-1971)Ggt>Tgt p.G657C SPATA5_ENST00000422835.2_3'UTR NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 657 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 CATTCGAATGGGTATTCAGCC 0.448000 36 104 1.57351e-24 2.79203e-24 0.064281 1 0 PI4K2B 55300 broad.mit.edu 37 4 25262192 25262192 + Nonsense_Mutation SNP T T A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:25262192T>A ENST00000264864.6 + 6 1146 c.957T>A c.(955-957)tgT>tgA p.C319* PI4K2B_ENST00000512921.1_Nonsense_Mutation_p.C223* NM_018323.3 NP_060793.2 Q8TCG2 P4K2B_HUMAN phosphatidylinositol 4-kinase type 2 beta 319 PI3K/PI4K. cytoplasm|membrane 1-phosphatidylinositol 4-kinase activity|ATP binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3) 15 Breast(46;0.173) AGCAGAAATGTGAAAAGGAAA 0.294000 28 54 0 0 0.041601 0 0 PDGFRA 5156 broad.mit.edu 37 4 55151611 55151611 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:55151611C>A ENST00000257290.5 + 17 2728 c.2397C>A c.(2395-2397)acC>acA p.T799T FIP1L1_ENST00000507166.1_Silent_p.T559T NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 799 Protein kinase. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TGAGCTTCACCTATCAAGTTG 0.393000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 27 44 5.61819e-17 8.98293e-17 0.108266 1 0 SCN8A 6334 broad.mit.edu 37 12 52164461 52164461 + Silent SNP C C A rs113227803 TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:52164461C>A ENST00000354534.5 + 19 3817 c.3639C>A c.(3637-3639)ggC>ggA p.G1213G SCN8A_ENST00000545061.1_Silent_p.G1213G NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1213 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) TGAGCAGTGGCGCCCTGGTGA 0.562000 24 26 2.41591e-17 3.90572e-17 0.099896 1 0 IGFBP5 3488 broad.mit.edu 37 2 217541586 217541586 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:217541586C>T ENST00000233813.4 - 4 1456 c.707G>A c.(706-708)cGc>cAc p.R236H NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 236 Thyroglobulin type-1. negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction insulin-like growth factor I binding endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCACGTTTGCGGCCACGGGA 0.627000 27 104 0 0 0.059317 0 0 AXL 558 broad.mit.edu 37 19 41765541 41765541 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:41765541C>A ENST00000301178.4 + 20 2607 c.2417C>A c.(2416-2418)aCa>aAa p.T806K AXL_ENST00000359092.3_Missense_Mutation_p.T797K|AXL_ENST00000593513.1_Missense_Mutation_p.T538K NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 806 Protein kinase. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 TTGGAGAACACACTGAAGGCC 0.552000 20 59 3.51602e-12 4.9668e-12 0.049695 1 0 GEMIN8 54960 broad.mit.edu 37 X 14038355 14038355 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chrX:14038355C>T ENST00000380523.4 - 4 632 c.314G>A c.(313-315)aGg>aAg p.R105K GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.R105K NM_017856.2 NP_060326.1 Q9NWZ8 GEMI8_HUMAN gem (nuclear organelle) associated protein 8 105 spliceosomal snRNP assembly Cajal body|cytoplasm|SMN complex|spliceosomal complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 9 TGCCTGGATCCTACTGCTGTA 0.483000 57 102 0 0 0.048971 0 0 C11orf82 220042 broad.mit.edu 37 11 82645284 82645284 + Missense_Mutation SNP T T G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:82645284T>G ENST00000533655.1 + 6 3116 c.2904T>G c.(2902-2904)tgT>tgG p.C968W C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.C968W|C11orf82_ENST00000329143.3_Missense_Mutation_p.C667W NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 968 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 CTGATTCTTGTTCAGAAGTCA 0.403000 25 65 0 0 0.091800 0 0 TAF1L 138474 broad.mit.edu 37 9 32631110 32631110 + Nonsense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:32631110G>A ENST00000242310.4 - 1 4557 c.4468C>T c.(4468-4470)Caa>Taa p.Q1490* NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1490 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) AGCATGGATTGAGAGATCTGA 0.433000 36 97 0 0 0.064281 0 0 ITGB3 3690 broad.mit.edu 37 17 45361973 45361973 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr17:45361973C>A ENST00000560629.1 + 4 491 c.491C>A c.(490-492)gCg>gAg p.A164E ITGB3_ENST00000571680.1_Silent_p.R176R|ITGB3_ENST00000559488.1_Silent_p.R176R|ITGB3_ENST00000435993.2_Silent_p.R129R P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 0 VWFA. activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) CAGTAACCTGCGGATTGGCTT 0.537000 44 98 5.44703e-19 9.05763e-19 0.111260 1 0 COL25A1 84570 broad.mit.edu 37 4 109745365 109745365 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:109745365C>A ENST00000399132.1 - 35 2340 c.1810G>T c.(1810-1812)Ggt>Tgt p.G604C COL25A1_ENST00000399127.1_Missense_Mutation_p.G607C|COL25A1_ENST00000399126.1_Missense_Mutation_p.G604C NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 604 Collagen-like 7. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CCCTTCTCACCCCGTGGACCA 0.413000 17 59 5.3912e-06 6.10444e-06 0.038395 1 0 PRUNE2 158471 broad.mit.edu 37 9 79318531 79318531 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:79318531G>T ENST00000428286.1 - 9 8121 c.6921C>A c.(6919-6921)ctC>ctA p.L2307L PRUNE2_ENST00000376718.3_Silent_p.L2666L Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2666 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CACCCAAGCCGAGTTCAGAGA 0.552000 15 37 1.15088e-07 1.37821e-07 0.028581 1 0 FGD6 55785 broad.mit.edu 37 12 95603227 95603227 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:95603227C>A ENST00000343958.4 - 2 2056 c.1833G>T c.(1831-1833)gtG>gtT p.V611V FGD6_ENST00000549499.1_Silent_p.V611V|FGD6_ENST00000546711.1_Silent_p.V611V NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 611 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 TGCACTTTTCCACATCCATAG 0.418000 62 148 5.98616e-33 1.08873e-32 0.048971 1 0 INPPL1 3636 broad.mit.edu 37 11 71948755 71948755 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:71948755G>T ENST00000298229.2 + 26 3671 c.3467G>T c.(3466-3468)cGg>cTg p.R1156L INPPL1_ENST00000541756.1_Missense_Mutation_p.R914L|INPPL1_ENST00000538751.1_Missense_Mutation_p.R914L NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 1156 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CAGCCCCCCCGGGGACTGCCC 0.697000 10 20 6.42651e-13 9.39756e-13 0.080935 1 0 POLE 5426 broad.mit.edu 37 12 133209344 133209344 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:133209344C>A ENST00000320574.5 - 44 6085 c.6042G>T c.(6040-6042)ggG>ggT p.G2014G POLE_ENST00000535270.1_Silent_p.G1987G NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 2014 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) TGCGCCTCAGCCCGTCCTTCA 0.672000 DNA polymerases (catalytic subunits) 19 33 1.33834e-09 1.74644e-09 0.043863 1 0 STK11 6794 broad.mit.edu 37 19 1207144 1207144 + Missense_Mutation SNP A A G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:1207144A>G ENST00000326873.7 + 1 1405 c.232A>G c.(232-234)Aag>Gag p.K78E STK11_ENST00000585748.1_Intron NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 78 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(3)|p.K78E(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GAGGGCCGTCAAGATCCTCAA 0.617000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 6 8 0 0 0.029380 0 0 FAM109A 144717 broad.mit.edu 37 12 111801043 111801043 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:111801043C>A ENST00000450786.2 - 2 292 c.131G>T c.(130-132)tGg>tTg p.W44L FAM109A_ENST00000548163.1_Silent_p.L63L|FAM109A_ENST00000547838.2_Silent_p.L63L|FAM109A_ENST00000361483.3_Silent_p.L76L|FAM109A_ENST00000392658.5_Silent_p.L63L Q8N4B1 SESQ1_HUMAN family with sequence similarity 109, member A 0 PH. endosome organization|receptor recycling|retrograde transport, endosome to Golgi clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network protein homodimerization activity breast(1)|endometrium(1)|lung(1)|ovary(1) 4 TGCAGCCCTCCAGGATGATGA 0.692000 6 20 8.12818e-05 8.82575e-05 0.029380 1 0 PTPRO 5800 broad.mit.edu 37 12 15637142 15637142 + Missense_Mutation SNP G G C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:15637142G>C ENST00000281171.4 + 2 640 c.310G>C c.(310-312)Gtg>Ctg p.V104L PTPRO_ENST00000348962.2_Missense_Mutation_p.V104L|PTPRO_ENST00000543886.1_Missense_Mutation_p.V104L NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 104 Fibronectin type-III 1. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) AAATGGAAATGTGGTGACCAA 0.398000 13 38 0 0 0.020292 0 0 CYP2C19 1557 broad.mit.edu 37 10 96522526 96522526 + Nonsense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:96522526C>T ENST00000371321.3 + 1 146 c.64C>T c.(64-66)Cag>Tag p.Q22* CYP2C19_ENST00000464755.1_Intron NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 22 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) AATCTGGAGACAGAGCTCTGG 0.458000 56 121 0 0 0.048971 0 0 LRP1B 53353 broad.mit.edu 37 2 141135766 141135766 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:141135766C>T ENST00000389484.3 - 68 11592 c.10621G>A c.(10621-10623)Gca>Aca p.A3541T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3541 LDL-receptor class A 26. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GAGCCATCTGCACAGTCAAAA 0.403000 TSP Lung(27;0.18) 21 43 0 0 0.055883 0 0 SCN8A 6334 broad.mit.edu 37 12 52180593 52180593 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:52180593C>A ENST00000354534.5 + 22 4388 c.4210C>A c.(4210-4212)Ctg>Atg p.L1404M SCN8A_ENST00000545061.1_Missense_Mutation_p.L1363M NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1404 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) GGCAGGATACCTGGCCCTTCT 0.398000 5 21 0.00116845 0.00122308 0.021553 1 0 GABRA6 2559 broad.mit.edu 37 5 161128508 161128508 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:161128508C>A ENST00000523217.1 + 9 1303 c.1061C>A c.(1060-1062)cCt>cAt p.P354H GABRA6_ENST00000274545.5_Missense_Mutation_p.P364H NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 364 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CCACAGCATCCTGACTCCAAA 0.358000 TCGA Ovarian(5;0.080) 30 93 2.81731e-10 3.83102e-10 0.045705 1 0 LDB3 11155 broad.mit.edu 37 10 88477783 88477783 + Missense_Mutation SNP G G C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:88477783G>C ENST00000429277.2 + 11 1899 c.1754G>C c.(1753-1755)tGc>tCc p.C585S LDB3_ENST00000458213.2_Missense_Mutation_p.C470S|LDB3_ENST00000352360.5_Missense_Mutation_p.C323S|LDB3_ENST00000361373.4_Missense_Mutation_p.C580S|LDB3_ENST00000263066.6_Missense_Mutation_p.C470S NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 580 LIM zinc-binding 1. cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 TGTGCCTACTGCAAGACTTCC 0.547000 26 64 0 0 0.091800 0 0 CYP4A11 1579 broad.mit.edu 37 1 47400757 47400757 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:47400757G>T ENST00000310638.4 - 6 736 c.705C>A c.(703-705)gcC>gcA p.A235A CYP4A11_ENST00000475477.1_Intron|CYP4A11_ENST00000457840.2_Intron|CYP4A11_ENST00000371904.4_Silent_p.A235A|CYP4A11_ENST00000371905.1_Silent_p.A235A NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 235 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) TCTGGTGAAAGGCATTCCTCA 0.532000 26 87 4.72057e-08 5.74764e-08 0.091800 1 0 PARP10 84875 broad.mit.edu 37 8 145058713 145058713 + Splice_Site SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr8:145058713C>T ENST00000313028.7 - 5 1551 c.1458_splice c.e5+1 p.R486_splice PARP10_ENST00000524918.1_Splice_Site_p.R486_splice|PARP10_ENST00000525773.1_Splice_Site_p.R498_splice NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 486 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTCACTCACCCGAAAGCCAGT 0.582000 25 38 0 0 0.076483 0 0 ANAPC1 64682 broad.mit.edu 37 2 112540062 112540062 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:112540062C>A ENST00000341068.3 - 43 5858 c.5086G>T c.(5086-5088)Gtt>Ttt p.V1696F NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 1696 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 ACATATAAAACCCCATCCTTG 0.423000 6 37 0.00307968 0.00315559 0.038147 1 0 FUT10 84750 broad.mit.edu 37 8 33310750 33310750 + Missense_Mutation SNP T T G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr8:33310750T>G ENST00000327671.5 - 3 991 c.360A>C c.(358-360)aaA>aaC p.K120N FUT10_ENST00000518672.1_Missense_Mutation_p.K92N|FUT10_ENST00000335589.3_Missense_Mutation_p.S46R|FUT10_ENST00000524021.1_Missense_Mutation_p.K92N|FUT10_ENST00000518076.1_5'UTR NM_032664.3 NP_116053.3 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 (alpha (1,3) fucosyltransferase) 120 embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity p.K120N(1) cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 29 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) AGAGGAATGCTTTGGTCATGT 0.507000 19 47 0 0 0.083992 0 0 DNASE2B 58511 broad.mit.edu 37 1 84867755 84867755 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:84867755C>A ENST00000370665.3 + 2 330 c.297C>A c.(295-297)gcC>gcA p.A99A NM_021233.2 NP_067056.2 Q8WZ79 DNS2B_HUMAN deoxyribonuclease II beta 99 DNA metabolic process lysosome deoxyribonuclease II activity endometrium(1)|lung(4)|skin(1) 6 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) AAGCATATGCCTCTAAGGTAT 0.373000 12 26 0.0135373 0.0136783 0.093190 1 0 SSFA2 6744 broad.mit.edu 37 2 182780424 182780424 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:182780424C>T ENST00000431877.2 + 11 2236 c.2057C>T c.(2056-2058)tCt>tTt p.S686F SSFA2_ENST00000409136.1_Missense_Mutation_p.S195F|SSFA2_ENST00000409001.1_Missense_Mutation_p.S686F|SSFA2_ENST00000428267.2_Missense_Mutation_p.S533F|SSFA2_ENST00000320370.7_Missense_Mutation_p.S686F NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 686 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) GGGCCTCCCTCTTCCATGGAC 0.403000 18 38 0 0 0.033300 0 0 RYR2 6262 broad.mit.edu 37 1 237802491 237802491 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:237802491A>T ENST00000366574.2 + 46 7422 c.7105A>T c.(7105-7107)Agt>Tgt p.S2369C RYR2_ENST00000360064.6_Missense_Mutation_p.S2367C|RYR2_ENST00000542537.1_Missense_Mutation_p.S2353C NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2369 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TAGCGGATCCAGTAAAACACT 0.423000 8 24 0 0 0.047766 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137465 40137465 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:40137465G>T ENST00000278198.2 - 2 2341 c.378C>A c.(376-378)ctC>ctA p.L126L LRRC4C_ENST00000530763.1_Silent_p.L126L|LRRC4C_ENST00000528697.1_Silent_p.L126L|LRRC4C_ENST00000527150.1_Silent_p.L126L Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 126 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) CCAGAGTGTTGAGGTTCGCCA 0.443000 23 33 7.41877e-09 9.26551e-09 0.062417 1 0 FAT4 79633 broad.mit.edu 37 4 126411059 126411059 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:126411059G>T ENST00000394329.3 + 17 13095 c.13082G>T c.(13081-13083)gGt>gTt p.G4361V FAT4_ENST00000335110.5_Missense_Mutation_p.G2602V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4361 Laminin G-like 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTCCCAGCAGGTTTTGATGGC 0.418000 56 111 2.43277e-16 3.84748e-16 0.048971 1 0 IGSF9B 22997 broad.mit.edu 37 11 133789936 133789936 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:133789936G>T ENST00000321016.8 - 18 3914 c.3684C>A c.(3682-3684)ctC>ctA p.L1228L IGSF9B_ENST00000533871.2_Silent_p.L1228L Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1228 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCTGCTGCAGGAGGCCCGGGC 0.687000 19 41 3.01185e-09 3.87809e-09 0.091800 1 0 CEP170B 283638 broad.mit.edu 37 14 105361169 105361169 + Silent SNP A A C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr14:105361169A>C ENST00000453495.1 + 19 4875 c.4647A>C c.(4645-4647)tcA>tcC p.S1549S CEP170B_ENST00000418279.1_Silent_p.S1443S|CEP170B_ENST00000556508.1_Silent_p.S1478S|CEP170B_ENST00000414716.3_Silent_p.S1513S centrosomal protein 170B p.S1513S(3)|p.S1479S(3)|p.S1478S(1) GCCCACCCTCACCCGCCTCAG 0.711000 5 14 0 0 0.058154 0 0 PDGFRA 5156 broad.mit.edu 37 4 55155207 55155207 + Nonsense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:55155207G>T ENST00000257290.5 + 21 3137 c.2806G>T c.(2806-2808)Gag>Tag p.E936* FIP1L1_ENST00000507166.1_Nonsense_Mutation_p.E696* NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 936 Protein kinase. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CTGGAACAGTGAGCCGGAGAA 0.537000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 13 35 1.49906e-05 1.67779e-05 0.020292 1 0 KLHL30 377007 broad.mit.edu 37 2 239049536 239049536 + Missense_Mutation SNP C C G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:239049536C>G ENST00000409223.1 + 2 248 c.141C>G c.(139-141)caC>caG p.H47Q KLHL30_ENST00000305959.4_Missense_Mutation_p.H29Q Q0D2K2 KLH30_HUMAN kelch-like family member 30 47 BTB. lung(4) 4 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) TGCCATGCCACCGCGGCCTCC 0.692000 26 51 0 0 0.083992 0 0 A2ML1 144568 broad.mit.edu 37 12 9001432 9001432 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:9001432C>A ENST00000299698.7 + 16 2130 c.1950C>A c.(1948-1950)ccC>ccA p.P650P A2ML1_ENST00000539547.1_Silent_p.P159P NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 494 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 ACCCAATGCCCCAAGGGCATT 0.527000 70 147 4.79706e-38 8.8351e-38 0.048971 1 0 CLEC4D 338339 broad.mit.edu 37 12 8673750 8673750 + Silent SNP T T A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:8673750T>A ENST00000299665.2 + 6 724 c.531T>A c.(529-531)tcT>tcA p.S177S NM_080387.4 NP_525126.2 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D 177 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) CCGACAACTCTCAGGGAGAAA 0.343000 14 46 0 0 0.024245 0 0 PI4K2B 55300 broad.mit.edu 37 4 25262206 25262206 + Missense_Mutation SNP A A C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:25262206A>C ENST00000264864.6 + 6 1160 c.971A>C c.(970-972)gAc>gCc p.D324A PI4K2B_ENST00000512921.1_Missense_Mutation_p.D228A NM_018323.3 NP_060793.2 Q8TCG2 P4K2B_HUMAN phosphatidylinositol 4-kinase type 2 beta 324 PI3K/PI4K. cytoplasm|membrane 1-phosphatidylinositol 4-kinase activity|ATP binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3) 15 Breast(46;0.173) AAGGAAATTGACCATAAGGTA 0.289000 20 44 0 0 0.062417 0 0 RHBDD2 57414 broad.mit.edu 37 7 75511505 75511505 + Silent SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:75511505C>T ENST00000318622.4 + 3 743 c.114C>T c.(112-114)ccC>ccT p.P38P RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_Silent_p.P38P|RHBDD2_ENST00000006777.6_Silent_p.P179P NM_001040457.1 NP_001035547.1 Q6NTF9 RHBD2_HUMAN rhomboid domain containing 2 179 integral to membrane serine-type endopeptidase activity kidney(1)|lung(4)|prostate(1) 6 GGCTCATTCCCCAGACCTCTT 0.592000 7 32 0 0 0.038147 0 0 OR6K6 128371 broad.mit.edu 37 1 158725228 158725228 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:158725228A>T ENST00000368144.2 + 1 719 c.623A>T c.(622-624)gAt>gTt p.D208V NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) ATATTCTGTGATTTCACACCT 0.498000 16 81 0 0 0.024245 0 0 TEX15 56154 broad.mit.edu 37 8 30705213 30705213 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr8:30705213A>T ENST00000256246.2 - 1 1395 c.1321T>A c.(1321-1323)Tat>Aat p.Y441N NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 441 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GTTTCTTTATAGTCTCTCTGA 0.338000 65 140 0 0 0.048971 0 0 BAI3 577 broad.mit.edu 37 6 70070841 70070841 + Nonsense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr6:70070841G>T ENST00000370598.1 + 29 4497 c.3676G>T c.(3676-3678)Gaa>Taa p.E1226* BAI3_ENST00000238918.8_Nonsense_Mutation_p.E432*|BAI3_ENST00000546190.1_Nonsense_Mutation_p.E190* NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1226 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) TGATGATGAAGAAGAAAAGGG 0.423000 16 40 4.7546e-09 6.04188e-09 0.028581 1 0 MRGPRD 116512 broad.mit.edu 37 11 68747617 68747617 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:68747617C>T ENST00000309106.3 - 1 838 c.839G>A c.(838-840)gGc>gAc p.G280D NM_198923.2 NP_944605.2 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 280 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2) 22 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CCTCCGGCTGCCCACCAGGAA 0.667000 19 44 0 0 0.043863 0 0 IPO5 3843 broad.mit.edu 37 13 98641395 98641395 + Silent SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr13:98641395G>A ENST00000261574.5 + 7 678 c.498G>A c.(496-498)cgG>cgA p.R166R IPO5_ENST00000490680.1_Silent_p.R148R|IPO5_ENST00000539640.1_Intron NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 148 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 TGGGACTGCGGGAAGCTGCCC 0.378000 17 27 0 0 0.028581 0 0 SND1 27044 broad.mit.edu 37 7 127343309 127343309 + Nonsense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:127343309C>T ENST00000354725.3 + 7 966 c.772C>T c.(772-774)Cag>Tag p.Q258* NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 258 TNase-like 2. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 GCGACTGCTTCAGAGAGATGT 0.493000 22 47 0 0 0.076483 0 0 LILRP2 79166 broad.mit.edu 37 19 55221690 55221690 + RNA SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:55221690G>T ENST00000413439.1 + 0 1415 GGCCCTGCTGGGGGAGCCCAG 0.667000 6 16 3.59834e-05 3.98143e-05 0.021553 1 0 COL19A1 1310 broad.mit.edu 37 6 70831782 70831782 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr6:70831782G>T ENST00000322773.4 + 17 1391 c.1289G>T c.(1288-1290)gGa>gTa p.G430V COL19A1_ENST00000393344.1_Missense_Mutation_p.G52V NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 430 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 GGACCTCCTGGAATACAAGGA 0.269000 19 53 3.8784e-16 6.03538e-16 0.062417 1 0 SIGLEC10 89790 broad.mit.edu 37 19 51920651 51920651 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:51920651A>T ENST00000353836.5 - 2 327 c.106T>A c.(106-108)Tgc>Agc p.C36S SIGLEC10_ENST00000442846.3_Missense_Mutation_p.C36S|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.C36S|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.C36S|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.C36S|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.C36S|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.C36S|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.C36S|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.C36S 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 36 Ig-like V-type. 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) ACAGAGATGCACAGGCCCTCC 0.577000 12 68 0 0 0.033300 0 0 REV1 51455 broad.mit.edu 37 2 100021122 100021122 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:100021122C>T ENST00000258428.3 - 18 3058 c.2830G>A c.(2830-2832)Gaa>Aaa p.E944K REV1_ENST00000393445.3_Missense_Mutation_p.E943K|REV1_ENST00000465835.1_5'UTR NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 944 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGAAGTGCTTCTAAAACAGAC 0.438000 Direct reversal of damage 24 50 0 0 0.076483 0 0 ZNFX1 57169 broad.mit.edu 37 20 47888276 47888276 + Nonsense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr20:47888276C>A ENST00000396105.1 - 3 319 c.73G>T c.(73-75)Gga>Tga p.G25* ZNFX1_ENST00000371754.4_Nonsense_Mutation_p.G25*|ZNFX1_ENST00000371752.1_Nonsense_Mutation_p.G25* NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 25 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) GGTAACTCTCCATCCACAGGG 0.483000 16 37 6.94344e-10 9.22622e-10 0.038395 1 0 EFCAB5 374786 broad.mit.edu 37 17 28410034 28410034 + Silent SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr17:28410034G>A ENST00000394835.3 + 18 3744 c.3552G>A c.(3550-3552)acG>acA p.T1184T EFCAB5_ENST00000320856.5_Silent_p.T1060T|EFCAB5_ENST00000394832.2_Intron NM_198529.3 NP_940931.2 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 1184 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 CCATCACTACGTACTTTGTAG 0.488000 14 26 0 0 0.105934 0 0 GRK5 2869 broad.mit.edu 37 10 121196210 121196210 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:121196210C>A ENST00000392870.2 + 9 1115 c.786C>A c.(784-786)gtC>gtA p.V262V GRK5_ENST00000369108.3_Silent_p.V157V NM_005308.2 NP_005299.1 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 262 Protein kinase. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) TGTGCTTGGTCCTGACCATCA 0.552000 14 39 3.27435e-08 4.00352e-08 0.020292 1 0 ADRB3 155 broad.mit.edu 37 8 37823632 37823632 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr8:37823632A>T ENST00000345060.3 - 1 851 c.356T>A c.(355-357)cTg>cAg p.L119Q NM_000025.2 NP_000016.1 P13945 ADRB3_HUMAN adrenoceptor beta 3 119 carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade integral to plasma membrane|receptor complex beta3-adrenergic receptor activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4) 9 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571) GGTCACACACAGCACGTCCAC 0.692000 9 13 0 0 0.058154 0 0 C3orf56 285311 broad.mit.edu 37 3 126915575 126915575 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr3:126915575G>T ENST00000398112.1 + 2 287 c.47G>T c.(46-48)cGt>cTt p.R16L NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) AAGGTCCGCCGTGCCTTCGAG 0.607000 7 14 2.7689e-08 3.41419e-08 0.029380 1 0 NCKAP1 10787 broad.mit.edu 37 2 183821252 183821252 + Silent SNP T T C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:183821252T>C ENST00000360982.2 - 21 2867 c.2109A>G c.(2107-2109)gtA>gtG p.V703V NCKAP1_ENST00000361354.3_Silent_p.V697V NM_205842.1 NP_995314.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 697 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TATGTTCCCATACCACCATGT 0.328000 26 70 0 0 0.108266 0 0 GPR75-ASB3 100302652 broad.mit.edu 37 2 53897674 53897674 + Missense_Mutation SNP T T C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:53897674T>C ENST00000263634.3 - 10 1657 c.1523A>G c.(1522-1524)gAa>gGa p.E508G GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.E435G|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.E435G|ASB3_ENST00000406625.2_Missense_Mutation_p.E543G|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.E546G NM_016115.4 NP_057199.1 Q2TAI4 Q2TAI4_HUMAN 543 intracellular signal transduction TTCTGGAACTTCATACATCCT 0.383000 3 33 0 0 0.004672 0 0 NLRP5 126206 broad.mit.edu 37 19 56539267 56539267 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:56539267C>A ENST00000390649.3 + 7 1668 c.1668C>A c.(1666-1668)ctC>ctA p.L556L NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 556 NACHT. mitochondrion|nucleolus ATP binding p.L556L(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TTCAAGGACTCGGGGAGTCTG 0.532000 9 26 0.000274275 0.000290233 0.047766 1 0 USP6 9098 broad.mit.edu 37 17 5064886 5064886 + Silent SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr17:5064886C>T ENST00000574788.1 + 32 5122 c.2892C>T c.(2890-2892)tcC>tcT p.S964S USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Silent_p.S647S|USP6_ENST00000250066.6_Silent_p.S964S P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 964 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 ATGGGAACTCCTGTGCTTGGT 0.363000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 15 49 0 0 0.033300 0 0 RANBP2 5903 broad.mit.edu 37 2 109384607 109384607 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:109384607A>T ENST00000283195.6 + 20 7738 c.7612A>T c.(7612-7614)Agt>Tgt p.S2538C NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2538 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATTCGGCAACAGTTCAGCCAC 0.373000 84 246 0 0 0.048971 0 0 ITPK1 3705 broad.mit.edu 37 14 93408113 93408113 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr14:93408113C>A ENST00000267615.6 - 11 1211 c.1038G>T c.(1036-1038)gcG>gcT p.A346A ITPK1_ENST00000556603.2_Silent_p.A346A|ITPK1_ENST00000354313.3_Intron|ITPK1_ENST00000555495.1_Silent_p.A227A Q13572 ITPK1_HUMAN inositol-tetrakisphosphate 1-kinase 346 blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding endometrium(1)|large_intestine(3)|lung(6)|ovary(1) 11 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) CCAGGCCGCCCGCCGGCTCGG 0.721000 6 14 0.0293803 0.0294817 0.029380 1 0 FOXG1 2290 broad.mit.edu 37 14 29237287 29237287 + Missense_Mutation SNP G G C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr14:29237287G>C ENST00000382535.3 + 2 1171 c.802G>C c.(802-804)Ggc>Cgc p.G268R FOXG1_ENST00000313071.4_Missense_Mutation_p.G268R P55316 FOXG1_HUMAN forkhead box G1 268 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GTTCATCGGCGGCACCACGGG 0.677000 15 33 0 0 0.028581 0 0 GCG 2641 broad.mit.edu 37 2 163002070 163002070 + Silent SNP C C G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:163002070C>G ENST00000418842.2 - 4 626 c.372G>C c.(370-372)gtG>gtC p.V124V GCG_ENST00000375497.3_Silent_p.V124V NM_002054.4 NP_002045.1 P01275 GLUC_HUMAN glucagon 124 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9) 14 Exenatide(DB01276)|Phentolamine(DB00692) CTCGGCCTTTCACCAGCCAAG 0.408000 5 154 0 0 0.014758 0 0 VAV3 10451 broad.mit.edu 37 1 108185324 108185324 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:108185324G>T ENST00000370056.4 - 20 2105 c.1831C>A c.(1831-1833)Ctg>Atg p.L611M VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000544443.1_Missense_Mutation_p.L15M|VAV3_ENST00000415432.2_Missense_Mutation_p.L51M|VAV3_ENST00000527011.1_Missense_Mutation_p.L611M NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 611 SH3 1. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) CCTTCATGCAGAGCTGGGGGT 0.458000 37 93 2.05212e-20 3.53353e-20 0.080422 1 0 UGT1A5 54579 broad.mit.edu 37 2 234622463 234622463 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:234622463A>T ENST00000373414.3 + 1 826 c.826A>T c.(826-828)Att>Ttt p.I276F UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron NM_019078.1 NP_061951.1 cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) CATGGTCTTCATTGGGGGCAT 0.488000 52 110 0 0 0.048971 0 0 CTBP1 1487 broad.mit.edu 37 4 1232123 1232123 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:1232123C>T ENST00000510568.1 - 2 601 c.10G>A c.(10-12)Gtc>Atc p.V4I CTBP1_ENST00000382952.3_Missense_Mutation_p.V4I|CTBP1_ENST00000515690.1_5'UTR|CTBP1_ENST00000290921.6_Missense_Mutation_p.V15I Q13363 CTBP1_HUMAN C-terminal binding protein 1 15 Interaction with GLIS2 1 (By similarity). interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation cytoplasm|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) GGAGGTCGGACGCCTGCAAGA 0.667000 20 48 0 0 0.055883 0 0 GPR179 440435 broad.mit.edu 37 17 36485944 36485944 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr17:36485944G>T ENST00000342292.4 - 11 3528 c.3508C>A c.(3508-3510)Cgg>Agg p.R1170R NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1170 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CTGCCCTCCCGTTGACAGACT 0.577000 55 162 2.84144e-21 4.92177e-21 0.048971 1 0 ANK1 286 broad.mit.edu 37 8 41555583 41555583 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr8:41555583A>T ENST00000396942.1 - 24 2698 c.2615T>A c.(2614-2616)aTc>aAc p.I872N ANK1_ENST00000396945.1_Missense_Mutation_p.I872N|ANK1_ENST00000352337.4_Missense_Mutation_p.I872N|ANK1_ENST00000379758.2_Missense_Mutation_p.I872N|ANK1_ENST00000347528.4_Missense_Mutation_p.I872N|ANK1_ENST00000289734.7_Missense_Mutation_p.I872N|ANK1_ENST00000265709.8_Missense_Mutation_p.I913N P16157 ANK1_HUMAN ankyrin 1, erythrocytic 872 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TTCTGACCTGATCACCACTGT 0.562000 12 26 0 0 0.020292 0 0 KRT72 140807 broad.mit.edu 37 12 52984735 52984735 + Missense_Mutation SNP A A C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:52984735A>C ENST00000293745.2 - 6 1059 c.974T>G c.(973-975)cTg>cGg p.L325R KRT72_ENST00000354310.4_Intron|KRT72_ENST00000398066.3_Missense_Mutation_p.L137R|KRT72_ENST00000537672.2_Missense_Mutation_p.L325R NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 325 Coil 2.|Rod. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) TGTGACCTGCAGCTCCTGGAT 0.547000 17 46 0 0 0.033300 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51961268 51961268 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:51961268C>T ENST00000321424.3 - 1 440 c.374G>A c.(373-375)cGg>cAg p.R125Q SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R125Q|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R125Q NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 125 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TCTCTCTAGCCGAAAGAAATA 0.498000 62 112 0 0 0.048971 0 0 ARAP3 64411 broad.mit.edu 37 5 141050083 141050083 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:141050083C>A ENST00000239440.4 - 14 2168 c.2103G>T c.(2101-2103)cgG>cgT p.R701R ARAP3_ENST00000513878.1_Silent_p.R363R|ARAP3_ENST00000508305.1_Silent_p.R603R NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 701 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 CCTCACCATCCCGGCCCCTGC 0.602000 42 121 2.24722e-20 3.84671e-20 0.048971 1 0 TBL1Y 90665 broad.mit.edu 37 Y 6954409 6954409 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chrY:6954409C>T ENST00000383032.1 + 16 1878 c.1231C>T c.(1231-1233)Ccc>Tcc p.P411S TBL1Y_ENST00000346432.3_Missense_Mutation_p.P411S|TBL1Y_ENST00000355162.2_Missense_Mutation_p.P411S NM_033284.1 NP_150600.1 Q9BQ87 TBL1Y_HUMAN transducin (beta)-like 1, Y-linked 411 transcription, DNA-dependent kidney(1)|large_intestine(4)|lung(2)|skin(1) 8 CAAGTGGAGCCCCACCGGGCC 0.552000 10 4 0 0 0.069234 0 0 OR1J4 26219 broad.mit.edu 37 9 125282323 125282323 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:125282323G>A ENST00000340750.1 + 1 904 c.904G>A c.(904-906)Gag>Aag p.E302K NM_001004452.1 NP_001004452.1 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, member 4 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 20 GGGAGCCCTGGAGAGACTCTT 0.423000 14 38 0 0 0.024245 0 0 NOX4 50507 broad.mit.edu 37 11 89070683 89070683 + Splice_Site SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:89070683A>T ENST00000535633.1 - 16 1685 c.1374_splice c.e16-1 p.F459_splice NOX4_ENST00000534731.1_Splice_Site_p.F443_splice|NOX4_ENST00000343727.5_Splice_Site_p.F459_splice|NOX4_ENST00000528341.1_Splice_Site_p.F458_splice|NOX4_ENST00000525196.1_Splice_Site_p.F247_splice|NOX4_ENST00000263317.4_Splice_Site_p.F483_splice|NOX4_ENST00000532825.1_Splice_Site_p.F419_splice|NOX4_ENST00000531342.1_Splice_Site_p.F136_splice|NOX4_ENST00000375979.3_Splice_Site_p.F176_splice|NOX4_ENST00000542487.1_Splice_Site_p.F459_splice|NOX4_ENST00000527956.1_Splice_Site_p.F459_splice|NOX4_ENST00000527626.1_Splice_Site_p.F296_splice|NOX4_ENST00000413594.2_Splice_Site_p.F504_splice|NOX4_ENST00000424319.1_Splice_Site_p.F459_splice NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 483 Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) TCTTGCCAAAACTGAGAGGAC 0.363000 11 32 0 0 0.033300 0 0 BACH1 571 broad.mit.edu 37 21 30699100 30699100 + Nonsense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr21:30699100G>T ENST00000399921.1 + 3 1198 c.955G>T c.(955-957)Gga>Tga p.G319* BACH1_ENST00000286800.3_Nonsense_Mutation_p.G319* NM_206866.1 NP_996749.1 O14867 BACH1_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 1 319 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2) 27 AGACCCTCATGGACTTTATTC 0.398000 51 120 9.40368e-32 1.69967e-31 0.048971 1 0 PCDHAC2 56134 broad.mit.edu 37 5 140347559 140347559 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:140347559G>T ENST00000289269.5 + 1 1740 c.1208G>T c.(1207-1209)gGt>gTt p.G403V PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 403 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGAGCCTGGGTCTGGAGGCC 0.567000 20 85 0.00152264 0.00158813 0.055883 1 0 UNC13C 440279 broad.mit.edu 37 15 54919169 54919169 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr15:54919169G>T ENST00000545554.1 + 32 6503 c.6503G>T c.(6502-6504)tGg>tTg p.W2168L UNC13C_ENST00000539562.2_Missense_Mutation_p.W89L|UNC13C_ENST00000537900.1_Missense_Mutation_p.W2166L|UNC13C_ENST00000260323.11_Missense_Mutation_p.W2168L Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 2168 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TATGGGGCATGGTATCCTCTT 0.403000 18 51 3.99206e-14 5.98809e-14 0.043863 1 0 C8orf37 157657 broad.mit.edu 37 8 96272100 96272100 + Missense_Mutation SNP A A C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr8:96272100A>C ENST00000286688.5 - 4 353 c.342T>G c.(340-342)atT>atG p.I114M NM_177965.3 NP_808880.1 Q96NL8 CH037_HUMAN chromosome 8 open reading frame 37 114 kidney(1)|large_intestine(1)|lung(5) 7 Breast(36;3.41e-05) TCCCACATGGAATAGAGCTTC 0.358000 30 57 0 0 0.059317 0 0 BCL9L 283149 broad.mit.edu 37 11 118773311 118773311 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:118773311C>A ENST00000334801.3 - 6 2105 c.1141G>T c.(1141-1143)Ggg>Tgg p.G381W BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 381 Necessary for interaction with CTNNB1 (By similarity).|Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GCTGCCTCCCCCAGCAGGGCA 0.692000 15 40 6.94344e-10 9.22622e-10 0.038395 1 0 FLG 2312 broad.mit.edu 37 1 152284875 152284875 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:152284875G>T ENST00000368799.1 - 3 2522 c.2487C>A c.(2485-2487)tcC>tcA p.S829S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 829 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGAGTGCCTGGAGTTGTCTC 0.567000 Ichthyosis 273 297 4.78259e-89 9.0963e-89 0.048971 1 0 ZNF578 147660 broad.mit.edu 37 19 53014459 53014459 + Silent SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:53014459A>T ENST00000421239.2 + 6 1069 c.825A>T c.(823-825)gcA>gcT p.A275A NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 50 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) GATACCTTGCACGCCATCGTA 0.378000 37 97 0 0 0.064281 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077389 19077389 + Silent SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:19077389A>T ENST00000329773.2 - 2 648 c.561T>A c.(559-561)acT>acA p.T187T NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 187 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 GCCACGCTGCAGTGATGAAAT 0.527000 25 34 0 0 0.083992 0 0 KIAA1462 57608 broad.mit.edu 37 10 30336510 30336510 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:30336510C>A ENST00000375377.1 - 2 333 c.232G>T c.(232-234)Ggc>Tgc p.G78C NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 78 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 TCCCCGTGGCCTCTCGGTGTG 0.612000 8 52 0.000157383 0.000169624 0.038147 1 0 F5 2153 broad.mit.edu 37 1 169519078 169519078 + Silent SNP T T A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:169519078T>A ENST00000367796.3 - 10 1773 c.1572A>T c.(1570-1572)ctA>ctT p.L524L F5_ENST00000546081.1_3'UTR|F5_ENST00000367797.3_Silent_p.L524L P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 524 F5/8 type A 2.|Plastocyanin-like 3. 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) TCTTACAGATTAGAAGTAGTC 0.428000 18 89 0 0 0.049695 0 0 REV1 51455 broad.mit.edu 37 2 100021119 100021119 + Missense_Mutation SNP C C G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:100021119C>G ENST00000258428.3 - 18 3061 c.2833G>C c.(2833-2835)Gca>Cca p.A945P REV1_ENST00000393445.3_Missense_Mutation_p.A944P|REV1_ENST00000465835.1_5'UTR NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 945 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGTGGAAGTGCTTCTAAAACA 0.438000 Direct reversal of damage 24 49 0 0 0.083992 0 0 FLRT2 23768 broad.mit.edu 37 14 86089443 86089443 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr14:86089443C>A ENST00000330753.4 + 2 2352 c.1585C>A c.(1585-1587)Cat>Aat p.H529N FLRT2_ENST00000554746.1_Missense_Mutation_p.H529N NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 529 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) AGCGTCCAGCCATGAGCAGAC 0.577000 37 107 3.33393e-15 5.10618e-15 0.074837 1 0 AOX1 316 broad.mit.edu 37 2 201523986 201523986 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:201523986G>T ENST00000374700.2 + 28 3511 c.3270G>T c.(3268-3270)gtG>gtT p.V1090V AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 1090 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GAGGTTCTGTGGTGGCAGATC 0.502000 25 101 9.04412e-07 1.05274e-06 0.099896 1 0 COL8A2 1296 broad.mit.edu 37 1 36564428 36564428 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:36564428G>T ENST00000397799.1 - 4 1078 c.854C>A c.(853-855)gCa>gAa p.A285E COL8A2_ENST00000303143.4_Missense_Mutation_p.A285E|COL8A2_ENST00000481785.1_Missense_Mutation_p.A220E P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 285 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CAACCCTGCTGCCCCTGGGAC 0.692000 12 29 3.07112e-06 3.50469e-06 0.080935 1 0 LRP1B 53353 broad.mit.edu 37 2 141739834 141739834 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:141739834G>T ENST00000389484.3 - 18 3753 c.2782C>A c.(2782-2784)Cag>Aag p.Q928K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 928 LDL-receptor class A 5. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGGTCTACCTGGCATGTTCTG 0.408000 TSP Lung(27;0.18) 11 41 6.40141e-05 7.00305e-05 0.080935 1 0 LHFP 10186 broad.mit.edu 37 13 39952639 39952639 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr13:39952639G>A ENST00000379589.3 - 3 872 c.410C>T c.(409-411)gCc>gTc p.A137V NM_005780.2 NP_005771.1 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner 137 integral to membrane DNA binding HMGA2/LHFP(2) breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) GGGGTAGAGGGCACAGCCAGC 0.507000 T HMGA2 lipoma 16 38 0 0 0.028581 0 0 NEB 4703 broad.mit.edu 37 2 152507201 152507201 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:152507201A>T ENST00000427231.2 - 53 7316 c.7114T>A c.(7114-7116)Tgt>Agt p.C2372S NEB_ENST00000603639.1_Missense_Mutation_p.C2372S|NEB_ENST00000409198.1_Missense_Mutation_p.C2372S|NEB_ENST00000172853.10_Missense_Mutation_p.C2372S|NEB_ENST00000397345.3_Missense_Mutation_p.C2372S|NEB_ENST00000604864.1_Missense_Mutation_p.C2372S NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 2372 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) AACTCCTGACACTTCTTGGCC 0.448000 78 211 0 0 0.048971 0 0 TGM2 7052 broad.mit.edu 37 20 36768012 36768012 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr20:36768012C>A ENST00000361475.2 - 9 1317 c.1144G>T c.(1144-1146)Ggc>Tgc p.G382C TGM2_ENST00000536701.1_Missense_Mutation_p.G301C|TGM2_ENST00000536724.1_Missense_Mutation_p.G322C NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 382 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) CTCAGGTCGCCCTCCTTGATG 0.587000 9 29 2.17888e-05 2.42932e-05 0.058154 1 0 RANGAP1 5905 broad.mit.edu 37 22 41670684 41670684 + Silent SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr22:41670684G>A ENST00000455915.2 - 2 1629 c.160C>T c.(160-162)Ctg>Ttg p.L54L RANGAP1_ENST00000356244.3_Silent_p.L54L|RANGAP1_ENST00000407260.4_Silent_p.L44L|RANGAP1_ENST00000405486.1_Silent_p.L54L P46060 RAGP1_HUMAN Ran GTPase activating protein 1 54 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCCAGACGCAGAGCCTCCAAG 0.512000 7 100 0 0 0.038147 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118196292 118196292 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:118196292C>A ENST00000369230.3 + 2 265 c.119C>A c.(118-120)aCa>aAa p.T40K NM_001011709.2 NP_001011709.2 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 40 lipid catabolic process extracellular region triglyceride lipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) ACTTTCTCAACAGAGTTGGTA 0.433000 22 67 1.36565e-18 2.25797e-18 0.076483 1 0 PCDHA13 56136 broad.mit.edu 37 5 140264050 140264050 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:140264050G>T ENST00000289272.2 + 1 2197 c.2197G>T c.(2197-2199)Gcg>Tcg p.A733S PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A733S|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 p.A733T(1) NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCGCGTGCGCGCCGGGCAA 0.672000 26 92 1.03484e-13 1.53642e-13 0.080422 1 0 CDH7 1005 broad.mit.edu 37 18 63430170 63430170 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr18:63430170G>T ENST00000536984.2 + 2 786 c.92G>T c.(91-93)aGg>aTg p.R31M CDH7_ENST00000323011.3_Missense_Mutation_p.R31M|CDH7_ENST00000397968.2_Missense_Mutation_p.R31M Q9ULB5 CADH7_HUMAN cadherin 7, type 2 31 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) GAACTCTCAAGGTCCAGATCA 0.468000 15 30 8.60227e-14 1.28372e-13 0.028581 1 0 HPSE2 60495 broad.mit.edu 37 10 100219443 100219443 + Missense_Mutation SNP G G T rs138866975 TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:100219443G>T ENST00000370552.3 - 12 1726 c.1667C>A c.(1666-1668)cCa>cAa p.P556Q HPSE2_ENST00000370549.1_Missense_Mutation_p.P498Q|HPSE2_ENST00000404542.1_Missense_Mutation_p.P444Q|HPSE2_ENST00000370546.1_3'UTR NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 556 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) CTTCAATTCTGGGAGGGTCCC 0.537000 11 19 3.86212e-05 4.25711e-05 0.069234 1 0 RGL1 23179 broad.mit.edu 37 1 183881336 183881336 + Silent SNP G G C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:183881336G>C ENST00000304685.3 + 16 2249 c.1788G>C c.(1786-1788)tcG>tcC p.S596S RGL1_ENST00000367531.1_Silent_p.S596S|RGL1_ENST00000536277.1_Silent_p.S559S|RGL1_ENST00000360851.3_Silent_p.S561S|RGL1_ENST00000539189.1_Silent_p.S532S NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 561 Ser-rich. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 CCTGCGAGTCGAACCACTCAG 0.532000 19 55 0 0 0.049695 0 0 EPHA7 2045 broad.mit.edu 37 6 94066441 94066441 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr6:94066441G>T ENST00000369303.4 - 5 1502 c.1318C>A c.(1318-1320)Caa>Aaa p.Q440K NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 440 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) ATACCTGCTTGACCAGTGGTG 0.408000 23 52 3.01185e-09 3.87809e-09 0.091800 1 0 INTS1 26173 broad.mit.edu 37 7 1538656 1538656 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:1538656C>A ENST00000389470.4 - 9 1475 c.1476G>T c.(1474-1476)cgG>cgT p.R492R INTS1_ENST00000404767.3_Silent_p.R364R Q8N201 INT1_HUMAN integrator complex subunit 1 364 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CCGCCAGCAGCCGCACCTCCT 0.701000 6 4 3.59834e-05 3.98143e-05 0.021553 1 0 FAR1 84188 broad.mit.edu 37 11 13722001 13722001 + Silent SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:13722001C>T ENST00000354817.3 + 3 471 c.327C>T c.(325-327)ttC>ttT p.F109F NM_032228.5 NP_115604.1 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 109 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 ATATTATATTCCACTGTGCAG 0.303000 6 67 0 0 0.038147 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 9 7 6.40141e-05 7.00305e-05 0.080935 1 0 NDUFV3 4731 broad.mit.edu 37 21 44323690 44323690 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr21:44323690G>T ENST00000354250.2 + 3 637 c.568G>T c.(568-570)Gcc>Tcc p.A190S NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Intron NM_021075.3 NP_066553.3 P56181 NDUV3_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 21 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) AAAACCAGAGGCCTCTCATTC 0.502000 40 72 4.14481e-20 7.05345e-20 0.086207 1 0 SPINK4 27290 broad.mit.edu 37 9 33248442 33248442 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:33248442C>A ENST00000379725.1 + 5 425 c.303C>A c.(301-303)atC>atA p.I101I SPINK4_ENST00000379721.3_Silent_p.I78I|SPINK4_ENST00000379723.1_Silent_p.I101I O60575 ISK4_HUMAN serine peptidase inhibitor, Kazal type 4 78 extracellular region serine-type endopeptidase inhibitor activity lung(1) 1 LUSC - Lung squamous cell carcinoma(29;0.00506) AACAGGACATCCAGATCATGA 0.498000 5 30 0.000602214 0.000634943 0.014758 1 0 INPP5D 3635 broad.mit.edu 37 2 234091102 234091102 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:234091102C>A ENST00000359570.5 + 21 2082 c.2082C>A c.(2080-2082)gcC>gcA p.A694A INPP5D_ENST00000455936.2_Silent_p.A458A|INPP5D_ENST00000450745.1_Silent_p.A458A|INPP5D_ENST00000538935.1_3'UTR Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 706 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CTGTCTTTGCCACATTTGAGG 0.517000 20 66 1.28384e-07 1.53114e-07 0.062417 1 0 RFX6 222546 broad.mit.edu 37 6 117198593 117198593 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr6:117198593A>T ENST00000332958.2 + 1 171 c.155A>T c.(154-156)cAg>cTg p.Q52L NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 52 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 GCCGAAGGGCAGCCCGGGGGC 0.657000 3 9 0 0 0.009096 0 0 SPECC1L 23384 broad.mit.edu 37 22 24718430 24718430 + Silent SNP T T A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr22:24718430T>A ENST00000314328.9 + 5 1767 c.1482T>A c.(1480-1482)cgT>cgA p.R494R SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000541492.1_Silent_p.R494R|KB-1896H10.1_ENST00000358654.2_Silent_p.R494R|SPECC1L_ENST00000437398.1_Silent_p.R494R NM_001254733.1|NM_015330.3 NP_001241662.1|NP_056145.3 Q69YQ0 CYTSA_HUMAN sperm antigen with calponin homology and coiled-coil domains 1-like 494 cell cycle|cell division breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1) 27 TAGAGCAACGTTACATGGACC 0.418000 34 89 0 0 0.069456 0 0 MAP1LC3C 440738 broad.mit.edu 37 1 242159549 242159549 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:242159549G>T ENST00000357246.3 - 4 424 c.360C>A c.(358-360)gcC>gcA p.A120A NM_001004343.2 NP_001004343.1 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 gamma 120 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(106;0.0188) TCTCCTGGGAGGCGTAGGTCA 0.567000 24 59 3.6726e-16 5.74585e-16 0.091800 1 0 XIST 7503 broad.mit.edu 37 X 73067641 73067641 + RNA SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chrX:73067641G>T ENST00000429829.1 - 0 4947 NR_001564.2 TAATGTAAAAGGGGTAGAATA 0.373000 23 21 3.5997e-14 5.42753e-14 0.069288 1 0 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr22:44083357C>T ENST00000262726.7 - 11 1389 c.1136G>A c.(1135-1137)aGa>aAa p.R379K EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K|EFCAB6_ENST00000358439.4_Intron NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 379 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) ATACCTATTTCTTTTTGTCAG 0.308000 6 27 0 0 0.021553 0 0 MKRN3 7681 broad.mit.edu 37 15 23811970 23811970 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr15:23811970G>T ENST00000314520.3 + 1 1517 c.1041G>T c.(1039-1041)tgG>tgT p.W347C MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Missense_Mutation_p.W107C NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 347 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding p.W347C(1) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) TCCGCAGGTGGAGAAGTGCCA 0.517000 31 77 4.02929e-09 5.1653e-09 0.045705 1 0 CALCR 799 broad.mit.edu 37 7 93116272 93116272 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:93116272G>A ENST00000359558.2 - 4 375 c.76C>T c.(76-78)Cgg>Tgg p.R26W CALCR_ENST00000426151.1_Missense_Mutation_p.R8W|CALCR_ENST00000421592.1_Missense_Mutation_p.R8W|CALCR_ENST00000360249.4_Missense_Mutation_p.R8W|CALCR_ENST00000394441.1_Missense_Mutation_p.R8W NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 8 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) GCCAAGCACCGGCTTGTAAAT 0.313000 32 84 0 0 0.059317 0 0 TRPV3 162514 broad.mit.edu 37 17 3432144 3432144 + Missense_Mutation SNP G G C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr17:3432144G>C ENST00000301365.4 - 10 1519 c.1388C>G c.(1387-1389)cCc>cGc p.P463R TRPV3_ENST00000572519.1_Missense_Mutation_p.P463R|TRPV3_ENST00000576742.1_Missense_Mutation_p.P463R Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, subfamily V, member 3 463 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) CTCCTCCCGGGGGCGGTAGTA 0.562000 20 44 0 0 0.069288 0 0 RBM6 10180 broad.mit.edu 37 3 50006042 50006042 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr3:50006042G>T ENST00000443081.1 + 3 1707 c.788G>T c.(787-789)gGg>gTg p.G263V RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.G395V|RBM6_ENST00000539992.1_Intron P78332 RBM6_HUMAN RNA binding motif protein 6 395 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) GACTTTCTTGGGCGGCAAGAC 0.493000 27 63 3.65163e-15 5.56348e-15 0.030593 1 0 CPT1C 126129 broad.mit.edu 37 19 50212025 50212025 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:50212025G>T ENST00000392518.4 + 14 1867 c.1495G>T c.(1495-1497)Ggc>Tgc p.G499C CPT1C_ENST00000323446.5_Missense_Mutation_p.G499C|CPT1C_ENST00000354199.5_Missense_Mutation_p.G499C|CPT1C_ENST00000405931.2_Missense_Mutation_p.G488C|CPT1C_ENST00000598293.1_Missense_Mutation_p.G499C NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 499 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) CTCAACAGACGGCCACTGCAA 0.612000 21 85 7.45023e-12 1.04232e-11 0.055883 1 0 PHF3 23469 broad.mit.edu 37 6 64394074 64394074 + Missense_Mutation SNP A A G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr6:64394074A>G ENST00000262043.3 + 4 791 c.451A>G c.(451-453)Aat>Gat p.N151D PHF3_ENST00000509330.1_Missense_Mutation_p.N151D|PHF3_ENST00000393387.1_Missense_Mutation_p.N151D Q92576 PHF3_HUMAN PHD finger protein 3 151 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CAAGCGTTCAAATGCAGCACC 0.373000 48 117 0 0 0.048971 0 0 JMJD1C 221037 broad.mit.edu 37 10 64967073 64967073 + Silent SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:64967073G>A ENST00000399262.2 - 10 4574 c.4356C>T c.(4354-4356)acC>acT p.T1452T JMJD1C_ENST00000399251.1_Silent_p.T1233T|JMJD1C_ENST00000402544.1_Silent_p.T1233T|JMJD1C_ENST00000542921.1_Silent_p.T1270T NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1452 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) CTGGTGCTGTGGTGCTGACCT 0.408000 44 101 0 0 0.042209 0 0 USH2A 7399 broad.mit.edu 37 1 215960025 215960025 + Silent SNP C C A rs137963595 byFrequency TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:215960025C>A ENST00000366943.2 - 52 10760 c.10374G>T c.(10372-10374)acG>acT p.T3458T USH2A_ENST00000307340.3_Silent_p.T3458T O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3458 Fibronectin type-III 19. 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) TGTAAGAGTACGTGTTTACAC 0.433000 HNSCC(13;0.011) 9 59 0.000274275 0.000290233 0.047766 1 0 MICAL2 9645 broad.mit.edu 37 11 12183922 12183922 + Missense_Mutation SNP T T C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:12183922T>C ENST00000256194.4 + 3 508 c.220T>C c.(220-222)Tcc>Ccc p.S74P MICAL2_ENST00000527546.1_Missense_Mutation_p.S74P|MICAL2_ENST00000537344.1_Missense_Mutation_p.S74P|MICAL2_ENST00000342902.5_Missense_Mutation_p.S74P|MICAL2_ENST00000379612.3_Missense_Mutation_p.S74P NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 74 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) TAAGCGTGGTTCCCACAAAGA 0.507000 11 28 0 0 0.069234 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507613 74507613 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:74507613C>A ENST00000354431.4 - 7 1193 c.1002G>T c.(1000-1002)caG>caT p.Q334H LRRIQ3_ENST00000395089.1_Missense_Mutation_p.Q334H NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 334 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 CTTCAGACTCCTGACCTACAT 0.299000 9 16 0.000274275 0.000290233 0.047766 1 0 FAM171A1 221061 broad.mit.edu 37 10 15255495 15255495 + Missense_Mutation SNP C C G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr10:15255495C>G ENST00000378116.4 - 8 2098 c.2092G>C c.(2092-2094)Ggt>Cgt p.G698R NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 698 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GGCTTCCCACCCCCAAGCTCC 0.582000 29 73 0 0 0.037714 0 0 BAZ2B 29994 broad.mit.edu 37 2 160189152 160189152 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:160189152G>A ENST00000392783.2 - 34 6337 c.5842C>T c.(5842-5844)Ctt>Ttt p.L1948F BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1848F|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1912F|BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1914F NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1948 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 CCATCACAAAGAAGAAGCAGT 0.383000 16 55 0 0 0.038395 0 0 PTPRB 5787 broad.mit.edu 37 12 70988333 70988333 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:70988333C>A ENST00000334414.6 - 6 1474 c.1430G>T c.(1429-1431)gGg>gTg p.G477V PTPRB_ENST00000538708.1_Missense_Mutation_p.G259V|PTPRB_ENST00000261266.5_Missense_Mutation_p.G259V|PTPRB_ENST00000551525.1_Missense_Mutation_p.G476V|PTPRB_ENST00000550857.1_Missense_Mutation_p.G259V|PTPRB_ENST00000550358.1_Missense_Mutation_p.G477V|PTPRB_ENST00000451516.2_Missense_Mutation_p.G259V|PTPRB_ENST00000538174.2_5'UTR NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 259 Fibronectin type-III 6. 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) AGGGGTCAGCCCGTGAAAAGC 0.502000 32 59 1.74807e-11 2.42232e-11 0.045705 1 0 CDH19 28513 broad.mit.edu 37 18 64211401 64211401 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr18:64211401C>A ENST00000262150.2 - 7 1313 c.1021G>T c.(1021-1023)Gtt>Ttt p.V341F CDH19_ENST00000540086.1_Missense_Mutation_p.V341F NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 341 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) TGCTCAGGAACATGATGGTTT 0.418000 8 39 0.00307968 0.00315559 0.038147 1 0 ZNF217 7764 broad.mit.edu 37 20 52198208 52198208 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr20:52198208G>T ENST00000371471.2 - 2 1583 c.1158C>A c.(1156-1158)acC>acA p.T386T ZNF217_ENST00000302342.3_Silent_p.T386T O75362 ZN217_HUMAN zinc finger protein 217 386 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) GCTGGTGGTAGGTTCTGAAAG 0.647000 17 46 4.14922e-12 5.83296e-12 0.028581 1 0 THEMIS 387357 broad.mit.edu 37 6 128134635 128134635 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr6:128134635G>T ENST00000368250.1 - 5 1412 c.914C>A c.(913-915)tCt>tAt p.S305Y THEMIS_ENST00000368248.2_Missense_Mutation_p.S384Y|THEMIS_ENST00000543064.1_Missense_Mutation_p.S384Y|THEMIS_ENST00000537166.1_Missense_Mutation_p.S349Y Q8N1K5 THMS1_HUMAN thymocyte selection associated 384 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 GTCCCCAACAGATACGGATGA 0.488000 34 77 3.11337e-16 4.89725e-16 0.054565 1 0 ZNF98 148198 broad.mit.edu 37 19 22605005 22605005 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:22605005G>T ENST00000357774.5 - 1 143 c.22C>A c.(22-24)Cta>Ata p.L8I ZNF98_ENST00000601553.1_Missense_Mutation_p.L8I NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) ACCATTTCTAGGCTTCCAAGG 0.612000 47 76 5.34276e-22 9.36591e-22 0.048971 1 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 4 49 0 0 0.009096 0 0 DNAH10 196385 broad.mit.edu 37 12 124395175 124395175 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:124395175G>T ENST00000409039.3 + 58 9761 c.9736G>T c.(9736-9738)Ggc>Tgc p.G3246C NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3246 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AGCTGTAATGGGCTACTGTGA 0.473000 20 45 1.78486e-19 3.00229e-19 0.043863 1 0 ARSF 416 broad.mit.edu 37 X 3019232 3019232 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chrX:3019232C>A ENST00000381127.1 + 8 1293 c.1072C>A c.(1072-1074)Caa>Aaa p.Q358K ARSF_ENST00000359361.2_Missense_Mutation_p.Q358K|ARSF_ENST00000537104.1_Missense_Mutation_p.Q358K NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 358 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 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) AGGGCATGCCCAACTTGGTGG 0.438000 37 25 9.73076e-26 1.73721e-25 0.092188 1 0 UNC13C 440279 broad.mit.edu 37 15 54527297 54527297 + Silent SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr15:54527297C>T ENST00000545554.1 + 4 3141 c.3141C>T c.(3139-3141)gtC>gtT p.V1047V UNC13C_ENST00000537900.1_Silent_p.V1047V|UNC13C_ENST00000260323.11_Silent_p.V1047V Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1047 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGCCTATTGTCCGAGATGTGG 0.383000 6 32 0 0 0.038147 0 0 DYSF 8291 broad.mit.edu 37 2 71791305 71791305 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:71791305G>A ENST00000258104.3 + 24 2750 c.2473G>A c.(2473-2475)Ggc>Agc p.G825S DYSF_ENST00000409582.3_Missense_Mutation_p.G842S|DYSF_ENST00000394120.2_Missense_Mutation_p.G826S|DYSF_ENST00000409744.1_Missense_Mutation_p.G812S|DYSF_ENST00000429174.2_Missense_Mutation_p.G825S|DYSF_ENST00000413539.2_Missense_Mutation_p.G856S|DYSF_ENST00000410041.1_Missense_Mutation_p.G843S|DYSF_ENST00000409651.1_Missense_Mutation_p.G857S|DYSF_ENST00000409366.1_Missense_Mutation_p.G826S|DYSF_ENST00000410020.3_Missense_Mutation_p.G843S|DYSF_ENST00000409762.1_Missense_Mutation_p.G842S NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 825 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CAACTACTGTGGCAAGAATTG 0.512000 32 77 0 0 0.045705 0 0 CLUH 23277 broad.mit.edu 37 17 2603704 2603704 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr17:2603704C>A ENST00000570628.1 - 9 1229 c.1124G>T c.(1123-1125)cGg>cTg p.R375L CLUH_ENST00000538975.1_Missense_Mutation_p.R375L|CLUH_ENST00000435359.1_Missense_Mutation_p.R375L|CLUH_ENST00000575014.1_Missense_Mutation_p.R307L clustered mitochondria (cluA/CLU1) homolog TCGGAGCAGCCGCTCAGGCAG 0.607000 4 20 0.0215528 0.0217019 0.021553 1 0 NLRP2 55655 broad.mit.edu 37 19 55495055 55495055 + Silent SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:55495055G>A ENST00000543010.1 + 6 2132 c.1989G>A c.(1987-1989)ccG>ccA p.P663P NLRP2_ENST00000391721.4_Silent_p.P639P|NLRP2_ENST00000339757.7_Silent_p.P641P|NLRP2_ENST00000538819.1_Silent_p.P639P|NLRP2_ENST00000263437.6_Silent_p.P660P|NLRP2_ENST00000537859.1_Silent_p.P641P|NLRP2_ENST00000448584.2_Silent_p.P663P|NLRP2_ENST00000427260.2_Silent_p.P640P NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 663 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) AGAATCTCCCGGAGAATGTCA 0.488000 16 50 0 0 0.038395 0 0 CD1E 913 broad.mit.edu 37 1 158324171 158324171 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:158324171C>A ENST00000368160.3 + 2 63 c.63C>A c.(61-63)ccC>ccA p.P21P CD1E_ENST00000368165.3_Silent_p.P21P|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368156.1_Silent_p.P21P|CD1E_ENST00000368155.3_Silent_p.P21P|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368167.3_Silent_p.P21P|CD1E_ENST00000434258.1_Silent_p.P19P|CD1E_ENST00000368163.3_Silent_p.P21P|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368161.3_Silent_p.P21P NM_001042583.2 NP_001036048.1 P15812 CD1E_HUMAN CD1e molecule 21 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) TCTCAGCTCCCCAGGCTCTAC 0.502000 94 98 1.76403e-45 3.29059e-45 0.048971 1 0 RXFP2 122042 broad.mit.edu 37 13 32352717 32352717 + Nonsense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr13:32352717G>A ENST00000298386.2 + 9 853 c.782G>A c.(781-783)tGg>tAg p.W261* RXFP2_ENST00000380314.1_Nonsense_Mutation_p.W261* NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 261 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) CAACTCAACTGGGTGTGAGTA 0.328000 29 100 0 0 0.045705 0 0 RGPD4 285190 broad.mit.edu 37 2 108475962 108475962 + Missense_Mutation SNP A A C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:108475962A>C ENST00000408999.3 + 11 1663 c.1586A>C c.(1585-1587)cAa>cCa p.Q529P RGPD4_ENST00000354986.4_Missense_Mutation_p.Q529P NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 529 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 ACAGAAAGACAAAAATCTTGG 0.398000 80 264 0 0 0.048971 0 0 KDR 3791 broad.mit.edu 37 4 55981449 55981449 + Splice_Site SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:55981449G>T ENST00000263923.4 - 4 783 c.489_splice c.e4+1 p.A163_splice NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 163 Ig-like C2-type 2. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity p.A163E(1) NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GCAACTTACTGCACAAAGTGA 0.358000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 11 20 1.08611e-07 1.30602e-07 0.080935 1 0 ZNF551 90233 broad.mit.edu 37 19 58199618 58199618 + Missense_Mutation SNP A A G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:58199618A>G ENST00000282296.5 + 3 2160 c.1975A>G c.(1975-1977)Att>Gtt p.I659V AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.I643V NM_001270938.1 NP_001257867.1 Q7Z340 ZN551_HUMAN zinc finger protein 551 659 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) ATCTAACCTCATTCGACATCG 0.428000 35 72 0 0 0.069456 0 0 DOPEY1 23033 broad.mit.edu 37 6 83823102 83823102 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr6:83823102G>A ENST00000349129.2 + 7 1002 c.742G>A c.(742-744)Gac>Aac p.D248N DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.D248N|DOPEY1_ENST00000237163.5_Missense_Mutation_p.D248N NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 248 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) AAGCACACTGGACCTCATACT 0.373000 17 56 0 0 0.055883 0 0 SI 6476 broad.mit.edu 37 3 164767594 164767594 + Missense_Mutation SNP G G C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr3:164767594G>C ENST00000264382.3 - 14 1644 c.1582C>G c.(1582-1584)Cca>Gca p.P528A NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 528 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTAAACGGTGGATAATTCAAT 0.279000 HNSCC(35;0.089) 10 36 0 0 0.080935 0 0 GTPBP10 85865 broad.mit.edu 37 7 89984398 89984398 + Splice_Site SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:89984398A>T ENST00000222511.6 + 4 385 c.e4-1 GTPBP10_ENST00000257659.8_Intron NM_033107.3 NP_149098.2 A4D1E9 GTPBA_HUMAN GTP-binding protein 10 (putative) ribosome biogenesis chromosome|nucleolus GTP binding|GTPase activity|magnesium ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(4) 10 CCTCTTTTTAAGGAGAACTCA 0.318000 21 44 0 0 0.062417 0 0 CRNKL1 51340 broad.mit.edu 37 20 20024248 20024248 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr20:20024248G>A ENST00000377340.2 - 8 1374 c.1343C>T c.(1342-1344)gCc>gTc p.A448V CRNKL1_ENST00000377327.4_Missense_Mutation_p.A436V|CRNKL1_ENST00000536226.1_Missense_Mutation_p.A287V NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 448 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 GAGTTCTTGGGCATCTTGTTT 0.373000 33 73 0 0 0.045705 0 0 TNFAIP6 7130 broad.mit.edu 37 2 152220570 152220570 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:152220570C>A ENST00000243347.3 + 2 283 c.208C>A c.(208-210)Cag>Aag p.Q70K NM_007115.3 NP_009046.2 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 70 Link. cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.131) AACTTACAAGCAGCTAGAGGC 0.433000 9 27 0.00448238 0.00456074 0.047766 1 0 WBSCR17 64409 broad.mit.edu 37 7 71175827 71175827 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:71175827G>T ENST00000333538.5 + 10 2216 c.1582G>T c.(1582-1584)Gtg>Ttg p.V528L WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 528 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CCGCTGCCTGGTGGACAACTC 0.607000 19 66 1.56452e-12 2.26506e-12 0.043863 1 0 RYR3 6263 broad.mit.edu 37 15 33925217 33925217 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr15:33925217C>A ENST00000389232.4 + 24 3005 c.2935C>A c.(2935-2937)Caa>Aaa p.Q979K RYR3_ENST00000415757.3_Missense_Mutation_p.Q979K NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 979 4 X approximate repeats. 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) GTTACCTCCTCAAGAAATTTT 0.378000 23 70 3.83957e-06 4.36451e-06 0.076483 1 0 DMRT3 58524 broad.mit.edu 37 9 990397 990397 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:990397C>A ENST00000190165.2 + 2 849 c.811C>A c.(811-813)Ctc>Atc p.L271I NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 271 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) TGAGCTCATCCTCAAGGGCTG 0.562000 28 47 9.65963e-10 1.27771e-09 0.059317 1 0 RUVBL1 8607 broad.mit.edu 37 3 127823653 127823653 + Missense_Mutation SNP A A C rs150247734 TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr3:127823653A>C ENST00000464873.1 - 4 1046 c.296T>G c.(295-297)aTa>aGa p.I99R RUVBL1_ENST00000417360.1_Missense_Mutation_p.I159R|RUVBL1_ENST00000322623.5_Missense_Mutation_p.I159R Q9Y265 RUVB1_HUMAN RuvB-like AAA ATPase 1 159 cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|DNA helicase activity|protein binding endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GBM - Glioblastoma multiforme(114;0.181) tttgagtcctatgatcacatg 0.473000 18 40 0 0 0.033300 0 0 ARAP2 116984 broad.mit.edu 37 4 36109211 36109211 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:36109211C>T ENST00000303965.4 - 27 4750 c.4261G>A c.(4261-4263)Gct>Act p.A1421T NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1421 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 ATTGTGTCAGCGGTTAAGAAT 0.423000 26 72 0 0 0.034045 0 0 SVEP1 79987 broad.mit.edu 37 9 113169975 113169975 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:113169975C>A ENST00000401783.2 - 38 8241 c.7905G>T c.(7903-7905)gaG>gaT p.E2635D SVEP1_ENST00000374469.1_Missense_Mutation_p.E2612D|SVEP1_ENST00000297826.5_Missense_Mutation_p.E561D NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2635 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 CGTCTTCTTGCTCAAAATATC 0.443000 51 166 1.22102e-19 2.06579e-19 0.048971 1 0 RTCB 51493 broad.mit.edu 37 22 32802692 32802692 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr22:32802692C>A ENST00000216038.5 - 4 395 c.297G>T c.(295-297)atG>atT p.M99I RTCB_ENST00000476619.1_5'UTR|RTCB_ENST00000451746.2_Missense_Mutation_p.M99I NM_014306.4 NP_055121.1 RNA 2',3'-cyclic phosphate and 5'-OH ligase CAAAGGCTGCCATGTTCCCAA 0.458000 46 113 2.37804e-12 3.40891e-12 0.048971 1 0 PRB4 5545 broad.mit.edu 37 12 11461220 11461220 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:11461220C>A ENST00000279575.1 - 3 730 c.697G>T c.(697-699)Ggg>Tgg p.G233W PRB4_ENST00000445719.2_Missense_Mutation_p.G164W|PRB4_ENST00000535904.1_Missense_Mutation_p.G233W NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 296 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 GGCCTGCCCCCTTGAGGAGGT 0.582000 HNSCC(22;0.051) 60 142 3.00467e-41 5.56916e-41 0.048971 1 0 LINC00477 144360 broad.mit.edu 37 12 24736367 24736367 + RNA SNP T T A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:24736367T>A ENST00000483544.1 - 0 735 NR_029451.2 GAGACCACGCTGCGTGCCAGA 0.557000 7 21 0 0 0.029380 0 0 TLN1 7094 broad.mit.edu 37 9 35722169 35722169 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:35722169C>A ENST00000314888.9 - 9 1248 c.895G>T c.(895-897)Gtg>Ttg p.V299L TLN1_ENST00000540444.1_Missense_Mutation_p.V299L NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 299 FERM.|Interaction with LAYN (By similarity). axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GCTAGCTTCACGTAGCGGACC 0.488000 22 50 1.77063e-15 2.72621e-15 0.108266 1 0 BBS9 27241 broad.mit.edu 37 7 33313545 33313545 + Silent SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:33313545A>T ENST00000242067.6 + 9 1514 c.993A>T c.(991-993)gtA>gtT p.V331V BBS9_ENST00000396127.2_Silent_p.V331V|BBS9_ENST00000355070.2_Silent_p.V331V|BBS9_ENST00000425508.2_Silent_p.V286V|BBS9_ENST00000350941.3_Silent_p.V331V|BBS9_ENST00000354265.4_Silent_p.V331V NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 331 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) ACATTCCTGTAGCAGTAAGAG 0.343000 Bardet-Biedl syndrome 12 40 0 0 0.105934 0 0 MTHFSD 64779 broad.mit.edu 37 16 86575712 86575712 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr16:86575712A>T ENST00000322911.6 - 6 597 c.547T>A c.(547-549)Tgc>Agc p.C183S MTHFSD_ENST00000360900.6_Missense_Mutation_p.C184S|MTHFSD_ENST00000546093.1_Missense_Mutation_p.C21S|MTHFSD_ENST00000543303.2_Missense_Mutation_p.C183S|MTHFSD_ENST00000381214.5_Missense_Mutation_p.C184S NM_001159377.1|NM_022764.2 NP_001152849.1|NP_073601.2 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain containing 184 folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding endometrium(1)|large_intestine(3)|lung(6)|skin(1) 11 AGCACCTGGCAGTCGTGGACG 0.577000 15 48 0 0 0.028581 0 0 CROCCP3 114819 broad.mit.edu 37 1 16809787 16809787 + RNA SNP C C G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:16809787C>G ENST00000263511.4 - 0 1998 NR_023386.1 GGCACCTTCTCAGGAGCTCTT 0.627000 3 3 0 0 0.004672 0 0 KEAP1 9817 broad.mit.edu 37 19 10602739 10602739 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:10602739A>T ENST00000171111.5 - 3 1386 c.839T>A c.(838-840)tTc>tAc p.F280Y KEAP1_ENST00000393623.2_Missense_Mutation_p.F280Y|KEAP1_ENST00000588024.1_5'UTR NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 280 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CATCTGCAGGAAGTTCGGCGT 0.617000 31 41 0 0 0.059317 0 0 AKR1A1 10327 broad.mit.edu 37 1 46033774 46033774 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:46033774G>T ENST00000372070.3 + 6 1224 c.477G>T c.(475-477)ctG>ctT p.L159L AKR1A1_ENST00000351829.4_Silent_p.L159L NM_001202413.1|NM_001202414.1|NM_006066.3 NP_001189342.1|NP_001189343.1|NP_006057.1 P14550 AK1A1_HUMAN aldo-keto reductase family 1, member A1 (aldehyde reductase) 159 glucose metabolic process alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding lung(3)|prostate(1)|urinary_tract(1) 5 Acute lymphoblastic leukemia(166;0.155) TGCAGGCGCTGGGCCTGTCCA 0.562000 4 27 0.00909568 0.00922245 0.009096 1 0 PRDM9 56979 broad.mit.edu 37 5 23527675 23527675 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:23527675C>A ENST00000296682.3 + 11 2660 c.2478C>A c.(2476-2478)caC>caA p.H826Q NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 826 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.H826Q(2) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AGAGGACACACACAGGGGAGA 0.582000 HNSCC(3;0.000094) 48 165 3.89483e-19 6.51376e-19 0.048971 1 0 MNDA 4332 broad.mit.edu 37 1 158815601 158815601 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:158815601C>A ENST00000368141.4 + 5 1056 c.795C>A c.(793-795)gtC>gtA p.V265V NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 265 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) GGAAGAAGGTCATTACCATAT 0.353000 45 41 9.85913e-13 1.4345e-12 0.111260 1 0 RCBTB2 1102 broad.mit.edu 37 13 49076859 49076859 + Splice_Site SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr13:49076859C>A ENST00000344532.3 - 11 1541 c.e11+1 RCBTB2_ENST00000430805.2_Splice_Site|RCBTB2_ENST00000544492.1_Splice_Site NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 Ran guanyl-nucleotide exchange factor activity breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) GACCAGCTTACCCACGGAGAG 0.547000 16 63 1.55795e-14 2.36126e-14 0.062417 1 0 CACNA1B 774 broad.mit.edu 37 9 140954117 140954117 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:140954117A>T ENST00000277549.5 + 32 4753 c.2184A>T c.(2182-2184)agA>agT p.R728S CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1532S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1533S|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1533S|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1532S|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R1532S Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1532 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) ACTATTTCAGAGATGCCTGGA 0.428000 36 84 0 0 0.080422 0 0 RIN2 54453 broad.mit.edu 37 20 19970827 19970827 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr20:19970827A>T ENST00000255006.6 + 9 2236 c.2087A>T c.(2086-2088)gAt>gTt p.D696V RIN2_ENST00000440354.2_Missense_Mutation_p.D214V|RIN2_ENST00000484638.1_3'UTR NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 647 VPS9. endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 CCGACCCCTGATTTTGTGGAT 0.537000 5 8 0 0 0.014758 0 0 CRHBP 1393 broad.mit.edu 37 5 76249022 76249022 + Silent SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:76249022G>A ENST00000274368.4 + 1 485 c.63G>A c.(61-63)ggG>ggA p.G21G CRHBP_ENST00000506501.1_Silent_p.G21G NM_001882.3 NP_001873.2 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein 21 female pregnancy|learning or memory|signal transduction soluble fraction kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) CTCTAAGAGGGGAAAGCCGGT 0.597000 8 21 0 0 0.038147 0 0 FLG 2312 broad.mit.edu 37 1 152284876 152284876 + Missense_Mutation SNP G G T rs139207952 byFrequency TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:152284876G>T ENST00000368799.1 - 3 2521 c.2486C>A c.(2485-2487)tCc>tAc p.S829Y FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 829 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGAGTGCCTGGAGTTGTCTCG 0.572000 Ichthyosis 276 294 1.77019e-86 3.34498e-86 0.048971 1 0 ADIPOR2 79602 broad.mit.edu 37 12 1863667 1863667 + Missense_Mutation SNP C C G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:1863667C>G ENST00000357103.4 + 2 409 c.158C>G c.(157-159)tCc>tGc p.S53C NM_024551.2 NP_078827.2 Q86V24 ADR2_HUMAN adiponectin receptor 2 53 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane hormone binding|receptor activity endometrium(1)|large_intestine(3)|lung(7)|stomach(1) 12 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000382) GTTCTATCTTCCCATCATAAA 0.433000 12 39 0 0 0.093190 0 0 SHROOM1 134549 broad.mit.edu 37 5 132159951 132159951 + Missense_Mutation SNP T T C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:132159951T>C ENST00000378679.3 - 7 2206 c.1402A>G c.(1402-1404)Agc>Ggc p.S468G SHROOM1_ENST00000319854.3_Missense_Mutation_p.S468G|SHROOM1_ENST00000378676.1_Missense_Mutation_p.S399G NM_001172700.1 NP_001166171.1 Q2M3G4 SHRM1_HUMAN shroom family member 1 468 actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGGGTGTGGCTTGTGGGCCTG 0.567000 18 35 0 0 0.038395 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786488 19786488 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:19786488G>A ENST00000341998.2 - 1 438 c.377C>T c.(376-378)tCc>tTc p.S126F SLC24A2_ENST00000286344.3_Missense_Mutation_p.S126F NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 126 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) CTCCTCAAGGGAAAAGATGTC 0.438000 29 49 0 0 0.037714 0 0 HOXC11 3227 broad.mit.edu 37 12 54367460 54367460 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:54367460C>A ENST00000546378.1 + 1 551 c.435C>A c.(433-435)agC>agA p.S145R HOTAIR_ENST00000424518.1_RNA|HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.S145R O43248 HXC11_HUMAN homeobox C11 145 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 ACAAGAACAGCGTCCTGCCTC 0.667000 T NUP98 AML 50 126 6.14515e-18 1.00463e-17 0.048971 1 0 SPTA1 6708 broad.mit.edu 37 1 158605732 158605732 + Missense_Mutation SNP C C G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:158605732C>G ENST00000368148.3 - 38 5583 c.5403G>C c.(5401-5403)tgG>tgC p.W1801C SPTA1_ENST00000368147.3_Missense_Mutation_p.W1801C NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1801 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 p.W1801C(1) 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) TGAGCTTCTCCCAGTGTTCAA 0.522000 108 86 0 0 0.048971 0 0 MS4A6A 64231 broad.mit.edu 37 11 59939710 59939710 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:59939710G>T ENST00000323961.3 - 7 905 c.668C>A c.(667-669)cCt>cAt p.P223H MS4A6A_ENST00000529054.1_Missense_Mutation_p.P251H|MS4A6A_ENST00000426738.2_3'UTR|MS4A6A_ENST00000530839.1_Missense_Mutation_p.P223H|MS4A6A_ENST00000420732.2_3'UTR|MS4A6A_ENST00000528851.1_3'UTR NM_152851.2 NP_690590.1 Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 6A 223 integral to membrane receptor activity endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GTAACTGTGAGGCAGGAAAAG 0.338000 54 100 2.48254e-18 4.08147e-18 0.048971 1 0 VCAN 1462 broad.mit.edu 37 5 82835845 82835845 + Silent SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:82835845A>T ENST00000265077.3 + 8 7588 c.7023A>T c.(7021-7023)gcA>gcT p.A2341A VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Silent_p.A1354A NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2341 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ACACTGGAGCAGAAGGACCCA 0.468000 21 69 0 0 0.055883 0 0 EVC2 132884 broad.mit.edu 37 4 5570366 5570366 + Splice_Site SNP T T A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:5570366T>A ENST00000310917.2 - 20 3853 c.3120_splice c.e20-1 p.E1041_splice EVC2_ENST00000344408.5_Splice_Site_p.E1121_splice|EVC2_ENST00000344938.1_Splice_Site_p.E1121_splice NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 1121 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 CAGTCTCAGCTCCTACAGGAA 0.562000 7 9 0 0 0.029380 0 0 CACNA1F 778 broad.mit.edu 37 X 49066115 49066115 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chrX:49066115C>A ENST00000376265.2 - 41 4889 c.4828G>T c.(4828-4830)Gcc>Tcc p.A1610S CACNA1F_ENST00000323022.5_Missense_Mutation_p.A1599S|CACNA1F_ENST00000376251.1_Missense_Mutation_p.A1545S NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1610 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) GTGCTAGGGGCGGCGTCGTTG 0.582000 12 7 7.03913e-09 8.82925e-09 0.093190 1 0 FNDC3B 64778 broad.mit.edu 37 3 172058969 172058969 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr3:172058969G>T ENST00000336824.4 + 17 2018 c.1919G>T c.(1918-1920)gGc>gTc p.G640V FNDC3B_ENST00000416957.1_Missense_Mutation_p.G640V|FNDC3B_ENST00000415807.2_Missense_Mutation_p.G640V NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 640 Fibronectin type-III 4. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) TTGAAACCAGGCACTTTGTAC 0.468000 46 118 5.34276e-22 9.36591e-22 0.048971 1 0 PCDHB3 56132 broad.mit.edu 37 5 140481682 140481682 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:140481682C>A ENST00000231130.2 + 1 1449 c.1449C>A c.(1447-1449)aaC>aaA p.N483K AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 483 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGGCACCAACGCCCAGGTAA 0.632000 65 188 9.68594e-22 1.68779e-21 0.048971 1 0 NUP188 23511 broad.mit.edu 37 9 131747255 131747255 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:131747255A>T ENST00000372577.2 + 20 2059 c.2038A>T c.(2038-2040)Act>Tct p.T680S NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 680 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 GTATGGGGTTACTATTGCCTT 0.468000 OREG0003924 type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 22 72 0 0 0.069288 0 0 VN1R1 57191 broad.mit.edu 37 19 57967672 57967672 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:57967672C>A ENST00000321039.3 - 1 182 c.183G>T c.(181-183)ctG>ctT p.L61L AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron NM_020633.3 NP_065684.1 Q9GZP7 VN1R1_HUMAN vomeronasal 1 receptor 1 61 response to pheromone integral to membrane|plasma membrane pheromone receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171) AGGAATTTCCCAGGATCCCAA 0.408000 25 43 4.59853e-10 6.16669e-10 0.108266 1 0 BRD2 6046 broad.mit.edu 37 6 32943871 32943871 + Missense_Mutation SNP T T G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr6:32943871T>G ENST00000395289.2 + 5 2136 c.535T>G c.(535-537)Tca>Gca p.S179A BRD2_ENST00000374831.4_Missense_Mutation_p.S179A|BRD2_ENST00000395287.1_Missense_Mutation_p.S179A|BRD2_ENST00000374825.4_Missense_Mutation_p.S179A|BRD2_ENST00000443797.2_Missense_Mutation_p.S59A|BRD2_ENST00000449085.2_Missense_Mutation_p.S132A P25440 BRD2_HUMAN bromodomain containing 2 179 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 GAAGGTTGCATCAATGCCACA 0.438000 20 43 0 0 0.043863 0 0 MUC17 140453 broad.mit.edu 37 7 100680018 100680018 + Missense_Mutation SNP T T C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:100680018T>C ENST00000306151.4 + 3 5385 c.5321T>C c.(5320-5322)aTt>aCt p.I1774T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1774 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCAACTCCTATTGACACCAGC 0.498000 155 384 0 0 0.048971 0 0 OR2M5 127059 broad.mit.edu 37 1 248308584 248308584 + Missense_Mutation SNP G G C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:248308584G>C ENST00000366476.1 + 1 135 c.135G>C c.(133-135)atG>atC p.M45I NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 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;0.0388) ACTCTGTCATGGTTCTCCTCA 0.527000 96 223 0 0 0.048971 0 0 PRMT5 10419 broad.mit.edu 37 14 23393546 23393546 + Missense_Mutation SNP C C G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr14:23393546C>G ENST00000324366.8 - 11 1355 c.1132G>C c.(1132-1134)Gca>Cca p.A378P PRMT5_ENST00000397441.2_Missense_Mutation_p.A361P|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.A317P|PRMT5_ENST00000553897.1_Missense_Mutation_p.A334P|PRMT5_ENST00000538452.1_Missense_Mutation_p.A272P|PRMT5_ENST00000397440.4_Missense_Mutation_p.A207P|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA NM_006109.3 NP_006100.2 O14744 ANM5_HUMAN protein arginine methyltransferase 5 378 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) TGCTTGGCTGCCCGCAGGGAA 0.552000 30 63 0 0 0.041601 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209817 140209817 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:140209817C>A ENST00000529310.1 + 1 2255 c.2141C>A c.(2140-2142)aCg>aAg p.T714K PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 p.T714M(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) CTGGTCCTCACGCTACTGCTG 0.706000 28 96 1.16021e-09 1.52081e-09 0.034045 1 0 PCDH11X 27328 broad.mit.edu 37 X 91131959 91131959 + Silent SNP T T C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chrX:91131959T>C ENST00000373094.1 + 2 1565 c.720T>C c.(718-720)acT>acC p.T240T PCDH11X_ENST00000373097.1_Silent_p.T240T|PCDH11X_ENST00000395337.2_Silent_p.T240T|PCDH11X_ENST00000373088.1_Silent_p.T240T|PCDH11X_ENST00000361655.2_Silent_p.T240T|PCDH11X_ENST00000361724.1_Silent_p.T240T|PCDH11X_ENST00000504220.1_Silent_p.T240T|PCDH11X_ENST00000298274.8_Silent_p.T240T|PCDH11X_ENST00000406881.1_Silent_p.T240T NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 240 Cadherin 2. 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 TGAGTGTTACTGATACAAATG 0.428000 57 51 0 0 0.048971 0 0 SPICE1 152185 broad.mit.edu 37 3 113212121 113212121 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr3:113212121C>A ENST00000295872.4 - 6 683 c.424G>T c.(424-426)Ggt>Tgt p.G142C NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 142 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 ACAATGGGACCCTGAGAGGAA 0.398000 16 27 7.07596e-05 7.712e-05 0.038395 1 0 KDM6A 7403 broad.mit.edu 37 X 44918511 44918511 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chrX:44918511A>T ENST00000377967.4 + 12 1035 c.994A>T c.(994-996)Aat>Tat p.N332Y KDM6A_ENST00000536777.1_Missense_Mutation_p.N332Y|KDM6A_ENST00000543216.1_Missense_Mutation_p.N332Y|KDM6A_ENST00000382899.4_Missense_Mutation_p.N332Y NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 332 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(2) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TCAGCAGCAAAATCAGCCCAT 0.398000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 13 8 0 0 0.020292 0 0 REST 5978 broad.mit.edu 37 4 57798155 57798155 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:57798155G>A ENST00000309042.7 + 4 3445 c.3131G>A c.(3130-3132)aGa>aAa p.R1044K NM_001193508.1|NM_005612.4 NP_001180437.1|NP_005603.3 Q13127 REST_HUMAN RE1-silencing transcription factor 1044 Interaction with RCOR1. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) GAATCTAGCAGAAAAAATGCA 0.443000 4 60 0 0 0.014758 0 0 POLG2 11232 broad.mit.edu 37 17 62479064 62479064 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr17:62479064C>T ENST00000539111.2 - 6 1230 c.1163G>A c.(1162-1164)gGa>gAa p.G388E POLG2_ENST00000582501.1_5'UTR NM_007215.3 NP_009146.2 Q9UHN1 DPOG2_HUMAN polymerase (DNA directed), gamma 2, accessory subunit 388 DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation mitochondrial chromosome ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1) 15 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;4.97e-11) GGGGCCTCTTCCTACATCCAA 0.408000 22 48 0 0 0.108266 0 0 TRMT1L 81627 broad.mit.edu 37 1 185109211 185109211 + Nonsense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:185109211C>A ENST00000367504.3 - 8 1274 c.535G>T c.(535-537)Gaa>Taa p.E179* TRMT1L_ENST00000367506.5_Nonsense_Mutation_p.E335* Q7Z2T5 TRM1L_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae)-like 335 intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 21 TCACTCTTTTCCTTTTCCTTA 0.343000 24 117 1.85244e-09 2.40652e-09 0.083992 1 0 SGCZ 137868 broad.mit.edu 37 8 14095116 14095116 + Nonsense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr8:14095116C>A ENST00000382080.1 - 4 1124 c.409G>T c.(409-411)Gga>Tga p.G137* SGCZ_ENST00000421524.2_Nonsense_Mutation_p.G90* NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 124 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma p.G137R(1) NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) GTCAGCTGTCCGGTTAACTGC 0.403000 94 264 9.04842e-37 1.65603e-36 0.048971 1 0 SLC10A6 345274 broad.mit.edu 37 4 87770045 87770045 + Missense_Mutation SNP T T A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:87770045T>A ENST00000273905.6 - 1 371 c.224A>T c.(223-225)cAg>cTg p.Q75L SLC10A6_ENST00000505535.1_5'UTR NM_197965.2 NP_932069.1 Q3KNW5 SOAT_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 6 75 integral to membrane|plasma membrane bile acid:sodium symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 9 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) GAGCCCAAACTGGCAGAGCAG 0.552000 16 38 0 0 0.028581 0 0 ESRP2 80004 broad.mit.edu 37 16 68264348 68264348 + Missense_Mutation SNP C C G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr16:68264348C>G ENST00000473183.2 - 14 2546 c.2008G>C c.(2008-2010)Ggt>Cgt p.G670R ESRP2_ENST00000565858.1_Missense_Mutation_p.G680R Q9H6T0 ESRP2_HUMAN epithelial splicing regulatory protein 2 680 mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 16 TATGGGACACCCTGCATGCGG 0.632000 25 67 0 0 0.083992 0 0 MYT1 4661 broad.mit.edu 37 20 62839248 62839248 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr20:62839248G>T ENST00000536311.1 + 7 1063 c.699G>T c.(697-699)caG>caT p.Q233H MYT1_ENST00000328439.1_Missense_Mutation_p.Q233H|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 233 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AGCGCTCCCAGGACCTGTGTC 0.627000 7 35 0.00307968 0.00315559 0.038147 1 0 MUC17 140453 broad.mit.edu 37 7 100677722 100677722 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:100677722G>T ENST00000306151.4 + 3 3089 c.3025G>T c.(3025-3027)Gac>Tac p.D1009Y NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1009 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACTCCTGTTGACTCCAACAC 0.522000 90 833 1.41219e-46 2.65127e-46 0.048971 1 0 OR52E2 119678 broad.mit.edu 37 11 5080461 5080461 + Nonsense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:5080461G>A ENST00000321522.2 - 1 396 c.397C>T c.(397-399)Caa>Taa p.Q133* NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) GCGCTATATTGGAGTGGATTG 0.433000 9 35 0 0 0.058154 0 0 SYNE2 23224 broad.mit.edu 37 14 64678779 64678779 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr14:64678779C>T ENST00000357395.3 + 105 19123 c.7979C>T c.(7978-7980)tCa>tTa p.S2660L SYNE2_ENST00000554584.1_Missense_Mutation_p.S6234L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2660L|SYNE2_ENST00000344113.4_Missense_Mutation_p.S6275L|SYNE2_ENST00000358025.3_Missense_Mutation_p.S6275L|SYNE2_ENST00000555002.1_Missense_Mutation_p.S2909L|SYNE2_ENST00000555022.1_Missense_Mutation_p.S153L|SYNE2_ENST00000554805.1_Missense_Mutation_p.S58L Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6275 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GAGCACTTCTCAGAGAGTGAC 0.547000 18 106 0 0 0.038395 0 0 CRB2 286204 broad.mit.edu 37 9 126132529 126132529 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr9:126132529C>A ENST00000373631.3 + 7 1198 c.1197C>A c.(1195-1197)ggC>ggA p.G399G CRB2_ENST00000359999.3_Silent_p.G399G|CRB2_ENST00000373629.2_Silent_p.G67G NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 399 EGF-like 9. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 AGCTCACTGGCTGCCAGGGCC 0.642000 18 29 2.94398e-08 3.61476e-08 0.043863 1 0 CTHRC1 115908 broad.mit.edu 37 8 104388119 104388119 + Missense_Mutation SNP T T C TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr8:104388119T>C ENST00000330295.5 + 2 446 c.304T>C c.(304-306)Tgg>Cgg p.W102R CTHRC1_ENST00000415886.2_Missense_Mutation_p.W102R|CTHRC1_ENST00000520337.1_Missense_Mutation_p.W88R NM_138455.3 NP_612464.1 Q96CG8 CTHR1_HUMAN collagen triple helix repeat containing 1 102 collagen endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) TGAGGAGTCCTGGACACCCAA 0.463000 14 29 0 0 0.020292 0 0 LPHN3 23284 broad.mit.edu 37 4 62599194 62599194 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:62599194G>T ENST00000512091.1 + 7 1864 c.1117G>T c.(1117-1119)Gac>Tac p.D373Y LPHN3_ENST00000507625.1_Missense_Mutation_p.D441Y|LPHN3_ENST00000506746.1_Missense_Mutation_p.D441Y|LPHN3_ENST00000514591.1_Missense_Mutation_p.D373Y|LPHN3_ENST00000507164.1_Missense_Mutation_p.D441Y|LPHN3_ENST00000508946.1_Missense_Mutation_p.D373Y|LPHN3_ENST00000511324.1_Missense_Mutation_p.D441Y|LPHN3_ENST00000514157.1_Missense_Mutation_p.D373Y|LPHN3_ENST00000509896.1_Missense_Mutation_p.D441Y|LPHN3_ENST00000545650.1_Missense_Mutation_p.D373Y|LPHN3_ENST00000514996.1_Missense_Mutation_p.D373Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.D441Y|LPHN3_ENST00000506720.1_Missense_Mutation_p.D441Y|LPHN3_ENST00000506700.1_Missense_Mutation_p.D373Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.D373Y Q9HAR2 LPHN3_HUMAN latrophilin 3 373 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CAACCCCAGGGACAACCTACT 0.398000 9 20 0.000274275 0.000290233 0.047766 1 0 CXorf22 170063 broad.mit.edu 37 X 35966464 35966464 + Missense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chrX:35966464C>A ENST00000297866.5 + 4 617 c.551C>A c.(550-552)cCc>cAc p.P184H NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 184 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 GGCCAATTACCCATCCTCATT 0.403000 44 25 2.68985e-26 4.83177e-26 0.048971 1 0 DYRK3 8444 broad.mit.edu 37 1 206820932 206820932 + Missense_Mutation SNP A A G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:206820932A>G ENST00000367106.1 + 4 802 c.329A>G c.(328-330)aAc>aGc p.N110S DYRK3_ENST00000367109.2_Missense_Mutation_p.N130S|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Missense_Mutation_p.N110S O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 130 erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) GTAAAATCCAACAGTTCATCC 0.418000 30 155 0 0 0.030593 0 0 MTMR8 55613 broad.mit.edu 37 X 63445215 63445215 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chrX:63445215C>T ENST00000453546.1 - 10 1530 c.1441G>A c.(1441-1443)Gca>Aca p.A481T ASB12_ENST00000362002.2_Missense_Mutation_p.A106T|ASB12_ENST00000396130.2_Missense_Mutation_p.A97T Q96EF0 MTMR8_HUMAN myotubularin related protein 8 0 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity p.0?(2) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 GGCGTCTGTGCCTTGACATCC 0.527000 3 10 0 0 0.004672 0 0 COLEC11 78989 broad.mit.edu 37 2 3652050 3652050 + Missense_Mutation SNP T T A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:3652050T>A ENST00000236693.7 + 2 266 c.32T>A c.(31-33)cTg>cAg p.L11Q COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000349077.4_Silent_p.P40P|COLEC11_ENST00000382062.2_Silent_p.P40P|COLEC11_ENST00000418971.2_Silent_p.P54P NM_199235.2 NP_954705.1 Q9BWP8 COL11_HUMAN collectin sub-family member 11 0 collagen mannose binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1) 22 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) TCCTCGTCCCTGGCCTCAAAG 0.627000 19 74 0 0 0.043863 0 0 SCN5A 6331 broad.mit.edu 37 3 38628930 38628930 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr3:38628930G>T ENST00000413689.1 - 15 2590 c.2397C>A c.(2395-2397)tcC>tcA p.S799S SCN5A_ENST00000443581.1_Silent_p.S799S|SCN5A_ENST00000423572.2_Silent_p.S799S|SCN5A_ENST00000414099.2_Silent_p.S799S|SCN5A_ENST00000451551.2_Silent_p.S799S|SCN5A_ENST00000333535.4_Silent_p.S799S|SCN5A_ENST00000450102.2_Silent_p.S799S|SCN5A_ENST00000449557.2_Silent_p.S799S|SCN5A_ENST00000455624.2_Silent_p.S799S|SCN5A_ENST00000425664.1_Silent_p.S799S NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 799 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TGCTCATGCGGGACAGGCCCA 0.597000 6 29 0.00116845 0.00122308 0.021553 1 0 COCH 1690 broad.mit.edu 37 14 31346907 31346907 + Nonsense_Mutation SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr14:31346907C>A ENST00000396618.3 + 4 268 c.212C>A c.(211-213)tCg>tAg p.S71* COCH_ENST00000475087.1_Nonsense_Mutation_p.S71*|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000460581.2_5'UTR|COCH_ENST00000216361.4_Nonsense_Mutation_p.S71* NM_004086.2 NP_004077.1 O43405 COCH_HUMAN cochlin 71 LCCL. sensory perception of sound proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3) 19 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) GCTTCTGTATCGAGCATATGT 0.502000 12 34 1.49906e-05 1.67779e-05 0.020292 1 0 LRTM2 654429 broad.mit.edu 37 12 1940197 1940197 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:1940197G>T ENST00000543818.1 + 4 1006 c.164G>T c.(163-165)aGt>aTt p.S55I LRTM2_ENST00000299194.1_Missense_Mutation_p.S55I|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.S55I 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 55 LRRNT. 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) GTGGACTGCAGTGGCCTTGGC 0.632000 19 67 3.62473e-10 4.88332e-10 0.062417 1 0 SAMSN1 64092 broad.mit.edu 37 21 15858294 15858294 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr21:15858294A>T ENST00000285670.2 - 9 1439 c.1265T>A c.(1264-1266)cTg>cAg p.L422Q SAMSN1_ENST00000400566.1_Missense_Mutation_p.L354Q|SAMSN1_ENST00000400564.1_Missense_Mutation_p.L186Q NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 354 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TTCAGACTCCAGATCCTCTTT 0.403000 37 83 0 0 0.039052 0 0 SCYL2 55681 broad.mit.edu 37 12 100729587 100729587 + Splice_Site SNP A A G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:100729587A>G ENST00000360820.2 + 16 2366 c.e16-1 NM_017988.4 NP_060458.3 Q6P3W7 SCYL2_HUMAN SCY1-like 2 (S. cerevisiae) endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1) 41 TTTCTATTTCAGCAAATTGAC 0.328000 31 65 0 0 0.050027 0 0 ANAPC1 64682 broad.mit.edu 37 2 112540063 112540063 + Silent SNP C C A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:112540063C>A ENST00000341068.3 - 43 5857 c.5085G>T c.(5083-5085)ggG>ggT p.G1695G NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 1695 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 CATATAAAACCCCATCCTTGG 0.423000 6 37 0.00448238 0.00456074 0.047766 1 0 INSC 387755 broad.mit.edu 37 11 15260573 15260573 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr11:15260573G>T ENST00000379554.3 + 11 1533 c.1487G>T c.(1486-1488)cGt>cTt p.R496L INSC_ENST00000530161.1_Missense_Mutation_p.R449L|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Missense_Mutation_p.R449L|INSC_ENST00000525218.1_Missense_Mutation_p.R407L|INSC_ENST00000528567.1_Missense_Mutation_p.R449L|INSC_ENST00000424273.1_Missense_Mutation_p.R407L NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 496 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 ACCCTGGCTCGTCTCAGCCGA 0.607000 7 32 0.000157383 0.000169624 0.038147 1 0 CDCA2 157313 broad.mit.edu 37 8 25364831 25364831 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr8:25364831G>T ENST00000330560.3 + 15 3126 c.2649G>T c.(2647-2649)agG>agT p.R883S CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.R868S NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 883 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) CCTTTCAGAGGAGAAATAGTG 0.423000 27 75 1.2476e-16 1.98389e-16 0.030593 1 0 PDCD7 10081 broad.mit.edu 37 15 65411761 65411761 + Missense_Mutation SNP C C A rs145137866 byFrequency TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr15:65411761C>A ENST00000204549.4 - 4 1341 c.1287G>T c.(1285-1287)caG>caT p.Q429H NM_005707.1 NP_005698.1 Q8N8D1 PDCD7_HUMAN programmed cell death 7 429 apoptosis|induction of apoptosis|response to glucocorticoid stimulus U12-type spliceosomal complex endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 7 GGAGATAATACTGTCGGAAAG 0.488000 9 25 3.09899e-07 3.66587e-07 0.047766 1 0 PSG6 5675 broad.mit.edu 37 19 43414784 43414784 + Silent SNP T T A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:43414784T>A ENST00000187910.2 - 3 719 c.654A>T c.(652-654)atA>atT p.I218I PSG6_ENST00000402603.4_Silent_p.I218I|PSG6_ENST00000292125.2_Silent_p.I218I NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) CTGGGTTCCGTATTTCACATT 0.502000 127 267 0 0 0.048971 0 0 BTBD11 121551 broad.mit.edu 37 12 108011167 108011167 + Missense_Mutation SNP C C G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:108011167C>G ENST00000280758.5 + 9 2713 c.2185C>G c.(2185-2187)Cag>Gag p.Q729E RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Missense_Mutation_p.Q729E|BTBD11_ENST00000357167.4_Missense_Mutation_p.Q266E|BTBD11_ENST00000420571.2_Intron NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 729 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 TACAACCCCCCAGGGTGATAT 0.522000 24 70 0 0 0.069288 0 0 ZIC1 7545 broad.mit.edu 37 3 147128353 147128353 + Missense_Mutation SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr3:147128353G>T ENST00000282928.4 + 1 1183 c.454G>T c.(454-456)Ggc>Tgc p.G152C NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 152 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 GCAGGCTGCCGGCCACGCGTC 0.716000 6 18 4.096e-09 5.22779e-09 0.021553 1 0 ZNF98 148198 broad.mit.edu 37 19 22605004 22605004 + Missense_Mutation SNP A A T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:22605004A>T ENST00000357774.5 - 1 144 c.23T>A c.(22-24)cTa>cAa p.L8Q ZNF98_ENST00000601553.1_Missense_Mutation_p.L8Q NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) CACCATTTCTAGGCTTCCAAG 0.612000 45 76 0 0 0.045515 0 0 SPAM1 6677 broad.mit.edu 37 7 123593796 123593796 + Missense_Mutation SNP G G A TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr7:123593796G>A ENST00000340011.5 + 3 529 c.172G>A c.(172-174)Gaa>Aaa p.E58K SPAM1_ENST00000223028.7_Missense_Mutation_p.E58K|SPAM1_ENST00000439500.1_Missense_Mutation_p.E58K|SPAM1_ENST00000402183.2_Missense_Mutation_p.E58K|SPAM1_ENST00000460182.1_Missense_Mutation_p.E58K NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 58 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) TGCCCCAAGTGAATTTTGTCT 0.448000 8 30 0 0 0.038147 0 0 ASH1L 55870 broad.mit.edu 37 1 155451804 155451804 + Frame_Shift_Del DEL T T - TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr1:155451804delT ENST00000368346.3 - 3 1496 c.857delA c.(856-858)gtfs p.D286fs ASH1L_ENST00000392403.3_Frame_Shift_Del_p.D286fs|ASH1L_ENST00000548830.1_3'UTR Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 286 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TTTCCCAGGATCTTTAGTTAC 0.403 101 96 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218682911 218682936 + Frame_Shift_Del DEL CCCCAGGGTGCCGGCCCAGGCTGGGA CCCCAGGGTGCCGGCCCAGGCTGGGA - rs140195511 byFrequency TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr2:218682911_218682936delCCCCAGGGTGCCGGCCCAGGCTGGGA ENST00000171887.4 - 24 4259_4284 c.3807_3832delTCCCAGCCTGGGCCGGCACCCTGGGG c.(3805-3834)agctfs p.SPSLGRHPGA1269fs TNS1_ENST00000430930.1_Frame_Shift_Del_p.SPSLGRHPGA1248fs|TNS1_ENST00000419504.1_Frame_Shift_Del_p.SPSLGRHPGA1256fs NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1269 cytoplasm|cytoskeleton|focal adhesion actin binding p.H1275Q(1) breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CCTTGGTGAGCCCCAGGGTGCCGGCCCAGGCTGGGACTCCCCGGGG 0.673 10 31 --- --- --- --- RGS12 6002 broad.mit.edu 37 4 3430399 3430399 + Frame_Shift_Del DEL A A - TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr4:3430399delA ENST00000336727.3 + 16 4430 c.3526delA c.(3526-3528)aafs p.K1178fs RGS12_ENST00000306648.7_Intron|RGS12_ENST00000338806.4_Frame_Shift_Del_p.K530fs|RGS12_ENST00000344733.5_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000382788.3_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000538395.1_Intron NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1178 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AAAGATTGGGAAAAAAAAATA 0.328 15 36 --- --- --- --- DTWD2 285605 broad.mit.edu 37 5 118183864 118183864 + Frame_Shift_Del DEL G G - TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr5:118183864delG ENST00000304058.4 - 5 519 c.449delC c.(448-450)cgfs p.P150fs DTWD2_ENST00000515439.3_Frame_Shift_Del_p.P120fs|DTWD2_ENST00000510708.1_Frame_Shift_Del_p.P216fs Q8NBA8 DTWD2_HUMAN DTW domain containing 2 216 breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4) 13 all_epithelial(76;0.0982)|Prostate(80;0.121) OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939) TCTATTAGTCGGCTGCATCCG 0.318 17 80 --- --- --- --- SEC63 11231 broad.mit.edu 37 6 108193003 108193003 + Frame_Shift_Del DEL C C - TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr6:108193003delC ENST00000369002.4 - 21 2367 c.2188delG c.(2188-2190)atfs p.D730fs NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 730 protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) ATTGCTGTATCCCACTGTGGG 0.433 55 106 --- --- --- --- FAM66B 100128890 broad.mit.edu 37 8 7196263 7196264 + RNA DEL AC AC - TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr8:7196263_7196264delAC ENST00000606573.1 - 0 703 ACTGAGGGGTacacacacacac 0.500 2 4 --- --- --- --- PPTC7 160760 broad.mit.edu 37 12 111020740 111020742 + In_Frame_Del DEL CGC CGC - TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr12:111020740_111020742delCGC ENST00000354300.3 - 1 383_385 c.95_97delGCG c.(94-99)gac>g p.GD32del NM_139283.1 NP_644812.1 Q8NI37 PPTC7_HUMAN PTC7 protein phosphatase homolog (S. cerevisiae) 32 Gly-rich. metal ion binding|phosphoprotein phosphatase activity endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 9 AGTCCGTAGTcgccgccgccgcc 0.739 6 3 --- --- --- --- RNF6 6049 broad.mit.edu 37 13 26788700 26788700 + Frame_Shift_Del DEL C C - TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr13:26788700delC ENST00000381588.4 - 5 2071 c.1319delG c.(1318-1320)gcfs p.G440fs RNF6_ENST00000346166.3_Frame_Shift_Del_p.G440fs|RNF6_ENST00000399762.2_Frame_Shift_Del_p.G84fs|RNF6_ENST00000381570.3_Frame_Shift_Del_p.G440fs|RNF6_ENST00000468480.1_Intron NM_005977.3 NP_005968.1 Q9Y252 RNF6_HUMAN ring finger protein (C3H2C3 type) 6 440 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2) 23 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) TCGGCGAAAGCCCCCACTATT 0.433 31 94 --- --- --- --- AKAP13 11214 broad.mit.edu 37 15 86236596 86236597 + Frame_Shift_Ins INS - - T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr15:86236596_86236597insT ENST00000394518.2 + 17 5473_5474 c.5378_5379insT c.(5377-5379)attfs p.I1793fs AKAP13_ENST00000361243.2_Frame_Shift_Ins_p.I1797fs|AKAP13_ENST00000394510.2_Frame_Shift_Ins_p.I38fs|AKAP13_ENST00000560579.1_3'UTR NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1793 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|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 AACGGGCACACTTTCAGTTCCA 0.416 47 119 --- --- --- --- ZNF598 90850 broad.mit.edu 37 16 2049882 2049883 + In_Frame_Ins INS - - TCC rs61746014 by1000genomes TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr16:2049882_2049883insTCC ENST00000563630.1 - 9 1744_1745 c.1502_1503insGGA c.(1501-1503)ggg>gGGAgg p.501_502insR ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR|ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR Q86UK7 ZN598_HUMAN zinc finger protein 598 556 intracellular zinc ion binding p.E555_D556insE(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 CCGGGCCGCCGTCCTCCTCCTC 0.703 4 5 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32077916 32077917 + RNA INS - - TTT rs139112308 by1000genomes TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr16:32077916_32077917insTTT ENST00000566806.1 - 0 499 ATGGAAAACGGTTATTTTTTTG 0.421 2 4 --- --- --- --- PSG5 5673 broad.mit.edu 37 19 43689239 43689239 + Frame_Shift_Del DEL G G - TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chr19:43689239delG ENST00000404580.1 - 2 213 c.125delC c.(124-126)cafs p.P43fs PSG5_ENST00000342951.6_Frame_Shift_Del_p.P43fs|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407568.1_Frame_Shift_Del_p.P43fs|PSG5_ENST00000366175.3_Frame_Shift_Del_p.P43fs|PSG5_ENST00000407356.1_Frame_Shift_Del_p.P43fs|PSG5_ENST00000599812.1_Frame_Shift_Del_p.P43fs Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 43 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) AACTTTGGGTGGCAGGGCTTC 0.473 72 191 --- --- --- --- RBM10 8241 broad.mit.edu 37 X 47028743 47028744 + Frame_Shift_Ins INS - - T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17c52748-ff25-4df2-a02e-2dafe57bba78 7c79723d-3ea4-4e5e-b682-5f7672f45f73 g.chrX:47028743_47028744insT ENST00000377604.3 + 3 789_790 c.47_48insT c.(46-48)tggfs p.W16fs RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Frame_Shift_Ins_p.W16fs|RBM10_ENST00000345781.6_Frame_Shift_Ins_p.W16fs NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 16 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 ACTGGCCGCTATGGAGCCACTG 0.584 16 21 --- --- --- ---