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 FGF9 2254 broad.mit.edu 37 13 22255205 22255205 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:22255205C>A ENST00000382353.5 + 2 832 c.302C>A c.(301-303)gCa>gAa p.A101E NM_002010.2 NP_002001.1 P31371 FGF9_HUMAN fibroblast growth factor 9 101 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division extracellular space growth factor activity|heparin binding p.A101E(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2) 9 all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106) all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163) ATCAGTATAGCAGTGGGCCTG 0.517000 40 42 4.01344e-20 4.77428e-20 1 1 0 OR51Q1 390061 broad.mit.edu 37 11 5444131 5444131 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:5444131C>A ENST00000300778.4 + 1 791 c.701C>A c.(700-702)gCt>gAt p.A234D AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A234D(2) endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCACCTGGGCTGAGCGACTC 0.483000 128 250 6.74356e-53 8.50569e-53 1 1 0 BRICD5 283870 broad.mit.edu 37 16 2259615 2259615 + Silent SNP C C T rs144177469 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:2259615C>T ENST00000328540.3 - 5 1647 c.531G>A c.(529-531)gcG>gcA p.A177A BRICD5_ENST00000562360.1_Silent_p.A177A NM_182563.3 NP_872369.2 BRICHOS domain containing 5 CCAAAGCCCCCGCCTGGGCGG 0.692000 3 6 0 0 1 0 0 LIG3 3980 broad.mit.edu 37 17 33329065 33329065 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:33329065G>A ENST00000378526.4 + 18 2749 c.2616G>A c.(2614-2616)aaG>aaA p.K872K LIG3_ENST00000262327.5_Silent_p.K872K NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 872 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding p.K872K(1)|p.K785K(1) endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) CCCCCAGCAAGCCCTCAGCCA 0.572000 Other BER factors 8 152 0 0 1 0 0 RPN2 6185 broad.mit.edu 37 20 35827457 35827457 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:35827457C>G ENST00000237530.6 + 4 619 c.308C>G c.(307-309)tCt>tGt p.S103C RPN2_ENST00000373622.5_Missense_Mutation_p.S71C NM_002951.3 NP_002942.2 P04844 RPN2_HUMAN ribophorin II 103 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding p.S103C(2) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1) 24 Myeloproliferative disorder(115;0.00878) TCTTAGATCTCTATTTCAAAT 0.468000 172 452 0 0 1 0 0 RMND5B 64777 broad.mit.edu 37 5 177570722 177570722 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:177570722C>T ENST00000515098.1 + 7 872 c.521C>T c.(520-522)gCg>gTg p.A174V RMND5B_ENST00000542098.1_Missense_Mutation_p.A161V|RMND5B_ENST00000313386.4_Missense_Mutation_p.A174V Q96G75 RMD5B_HUMAN required for meiotic nuclear division 5 homolog B (S. cerevisiae) 174 CTLH. p.A174V(2) endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 17 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGGGTCCTGCGTTGGAGTAA 0.527000 4 34 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79054629 79054629 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:79054629A>G ENST00000446378.2 + 7 11195 c.11164A>G c.(11164-11166)Aca>Gca p.T3722A CMYA5_ENST00000505466.1_3'UTR NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3722 Fibronectin type-III 1. perinuclear region of cytoplasm p.T3722A(2) NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CACCAGCACAACAATTGCAGT 0.378000 121 140 0 0 1 0 0 RPP40 10799 broad.mit.edu 37 6 4996626 4996626 + Nonsense_Mutation SNP A A T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:4996626A>T ENST00000380051.2 - 6 632 c.588T>A c.(586-588)taT>taA p.Y196* RPP40_ENST00000464646.1_Nonsense_Mutation_p.Y136*|RPP40_ENST00000319533.5_Nonsense_Mutation_p.Y173* NM_006638.2 NP_006629.2 O75818 RPP40_HUMAN ribonuclease P/MRP 40kDa subunit 196 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity p.Y196*(1) NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 14 Ovarian(93;0.11) all_hematologic(90;0.0895) ACTTGGAAAAATATGACATCA 0.453000 39 223 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61525430 61525430 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:61525430C>G ENST00000266070.4 - 12 3014 c.2689G>C c.(2689-2691)Gat>Cat p.D897H DIDO1_ENST00000395340.1_Missense_Mutation_p.D897H|DIDO1_ENST00000395335.2_Missense_Mutation_p.D897H|DIDO1_ENST00000395343.1_Missense_Mutation_p.D897H NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 897 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.D897H(1) NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TCAGCTGAATCCGGAGCTGGG 0.478000 11 89 0 0 1 0 0 TNMD 64102 broad.mit.edu 37 X 99854065 99854065 + Silent SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chrX:99854065C>G ENST00000373031.4 + 6 847 c.630C>G c.(628-630)gcC>gcG p.A210A NM_022144.2 NP_071427.2 Q9H2S6 TNMD_HUMAN tenomodulin 210 integral to membrane p.A210A(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1) 16 ACTTTCCTGCCAACGAAAAAA 0.423000 52 60 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31855382 31855382 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:31855382G>A ENST00000395728.3 - 14 2153 c.2154C>T c.(2152-2154)ggC>ggT p.G718G EHMT2_ENST00000375528.4_Silent_p.G684G|EHMT2_ENST00000375530.4_Silent_p.G627G|EHMT2_ENST00000375537.4_Silent_p.G661G|EHMT2_ENST00000480912.1_5'UTR Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 661 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 TCTGCAGCTCGCCCTGCTTCA 0.592000 4 60 0 0 1 0 0 TANK 10010 broad.mit.edu 37 2 162036261 162036261 + Missense_Mutation SNP T T A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:162036261T>A ENST00000392749.2 + 2 327 c.88T>A c.(88-90)Tta>Ata p.L30I TANK_ENST00000403609.1_Missense_Mutation_p.L30I|TANK_ENST00000402568.1_Missense_Mutation_p.L88I|TANK_ENST00000405852.1_Missense_Mutation_p.L30I|TANK_ENST00000457476.1_Missense_Mutation_p.L30I|TANK_ENST00000259075.2_Missense_Mutation_p.L30I|TANK_ENST00000406287.1_Missense_Mutation_p.L88I NM_001199135.1 NP_001186064.1 Q92844 TANK_HUMAN TRAF family member-associated NFKB activator 30 cytosol metal ion binding|protein binding p.L30I(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1) 21 AGTAAAAGAATTACAGCAAAA 0.378000 21 133 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146266588 146266588 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:146266588C>A ENST00000367503.3 - 8 1905 c.1507G>T c.(1507-1509)Ggt>Tgt p.G503C SHPRH_ENST00000275233.7_Missense_Mutation_p.G503C|SHPRH_ENST00000367505.2_Missense_Mutation_p.G503C|SHPRH_ENST00000438092.2_Missense_Mutation_p.G503C NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 503 H15. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) CCAGAAAAACCATGGCCTTTG 0.348000 4 72 2.56e-06 2.78165e-06 1 1 0 C11orf30 56946 broad.mit.edu 37 11 76227233 76227233 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:76227233C>T ENST00000529032.1 + 10 1561 c.1561C>T c.(1561-1563)Cgg>Tgg p.R521W C11orf30_ENST00000525038.1_Missense_Mutation_p.R536W|C11orf30_ENST00000334736.3_Missense_Mutation_p.R521W|C11orf30_ENST00000524767.1_Missense_Mutation_p.R536W|C11orf30_ENST00000525919.1_Missense_Mutation_p.R522W|C11orf30_ENST00000524490.1_Missense_Mutation_p.R437W|C11orf30_ENST00000533248.1_Missense_Mutation_p.R535W|C11orf30_ENST00000343878.3_Missense_Mutation_p.R521W Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 521 Thr-rich. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.R521W(2) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 ATCCATTGGTCGGATGGCTGC 0.473000 86 210 0 0 1 0 0 MS4A15 219995 broad.mit.edu 37 11 60543133 60543133 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:60543133C>T ENST00000405633.3 + 7 747 c.668C>T c.(667-669)gCa>gTa p.A223V MS4A15_ENST00000337911.4_Missense_Mutation_p.A130V|MS4A15_ENST00000528170.1_Missense_Mutation_p.A182V NM_001098835.1 NP_001092305.1 Q8N5U1 M4A15_HUMAN membrane-spanning 4-domains, subfamily A, member 15 223 integral to membrane receptor activity breast(1)|large_intestine(2)|lung(3) 6 CCCAGCCCGGCAGCCTCTGCG 0.587000 OREG0020991 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 99 243 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626979 108626979 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:108626979G>A ENST00000264047.2 + 9 1681 c.1405G>A c.(1405-1407)Gat>Aat p.D469N SLC5A7_ENST00000409059.1_Missense_Mutation_p.D469N|SLC5A7_ENST00000540517.1_Missense_Mutation_p.D364N NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 469 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity p.D469N(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TTACCCTGATGATAATGGTAT 0.398000 8 108 0 0 1 0 0 LHX8 431707 broad.mit.edu 37 1 75608822 75608822 + Missense_Mutation SNP T T G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:75608822T>G ENST00000294638.5 + 6 1073 c.409T>G c.(409-411)Tct>Gct p.S137A LHX8_ENST00000356261.3_Missense_Mutation_p.S127A NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 137 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S137A(2) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 AACTCGCTGCTCTCGATGTGG 0.443000 14 90 0 0 1 0 0 TM4SF19 116211 broad.mit.edu 37 3 196050777 196050777 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:196050777G>T ENST00000446879.1 - 5 662 c.537C>A c.(535-537)ttC>ttA p.F179L TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19_ENST00000454715.1_Missense_Mutation_p.L155M|TM4SF19_ENST00000273695.3_Missense_Mutation_p.L181M Q96DZ7 T4S19_HUMAN transmembrane 4 L six family member 19 0 integral to membrane p.L181M(2) endometrium(2)|kidney(2)|large_intestine(3)|lung(5) 12 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) CTGATGCACAGAAGGGCGGAG 0.567000 12 66 0.00010058 0.000107887 1 1 0 DCAF8L2 347442 broad.mit.edu 37 X 27766598 27766598 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chrX:27766598C>T ENST00000451261.2 + 5 1985 c.1586C>T c.(1585-1587)gCg>gTg p.A529V NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 p.A496V(2) central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 CCTGTGTTGGCGTGCAGTGGC 0.473000 63 28 0 0 1 0 0 PIK3R3 8503 broad.mit.edu 37 1 46511639 46511639 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:46511639A>G ENST00000262741.5 - 9 1827 c.1138T>C c.(1138-1140)Ttc>Ctc p.F380L PIK3R3_ENST00000423209.1_Missense_Mutation_p.F321L|PIK3R3_ENST00000420542.1_Missense_Mutation_p.F380L|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000372006.1_Missense_Mutation_p.F380L|PIK3R3_ENST00000340332.6_Missense_Mutation_p.F285L|PIK3R3_ENST00000354242.4_Missense_Mutation_p.F321L|PIK3R3_ENST00000540385.1_Missense_Mutation_p.F426L NM_003629.3 NP_003620.3 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 (gamma) 380 SH2 2. insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding p.F380L(1) endometrium(1)|large_intestine(5)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(166;0.155) CGAATTAAGAATGCACCATCA 0.398000 154 616 0 0 1 0 0 DDX42 11325 broad.mit.edu 37 17 61869884 61869884 + Translation_Start_Site SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:61869884G>A ENST00000359353.5 + 0 300 DDX42_ENST00000578681.1_Missense_Mutation_p.D112N|DDX42_ENST00000389924.2_Missense_Mutation_p.D112N|DDX42_ENST00000583590.1_Missense_Mutation_p.D112N|DDX42_ENST00000457800.2_Missense_Mutation_p.D112N Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding p.D112N(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 TTCTGACAGCGATGATGATCC 0.398000 50 207 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131646712 131646712 + Nonsense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:131646712G>A ENST00000368648.3 - 11 1117 c.1045C>T c.(1045-1047)Cag>Tag p.Q349* EBF3_ENST00000355311.5_Nonsense_Mutation_p.Q358* NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 358 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding p.Q349*(3)|p.Q358*(3) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) TGCAACCTCTGAAAGCCGTAA 0.468000 18 86 0 0 1 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205306641 205306641 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:205306641G>A ENST00000367156.3 - 9 1755 c.939C>T c.(937-939)ccC>ccT p.P313P KLHDC8A_ENST00000539253.1_Silent_p.P313P|KLHDC8A_ENST00000537168.1_Silent_p.P200P|KLHDC8A_ENST00000367155.3_Silent_p.P313P|KLHDC8A_ENST00000460687.1_Silent_p.P179P NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 313 p.P313P(1) breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) AGCGGGGTGTGGGCATGGCAG 0.592000 9 252 0 0 1 0 0 PARP11 57097 broad.mit.edu 37 12 3938098 3938098 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:3938098G>A ENST00000228820.4 - 3 390 c.246C>T c.(244-246)ttC>ttT p.F82F PARP11_ENST00000447133.3_Intron|PARP11_ENST00000397096.2_Silent_p.F75F|PARP11_ENST00000427057.2_Intron NM_020367.4 NP_065100.2 Q9NR21 PAR11_HUMAN poly (ADP-ribose) polymerase family, member 11 75 WWE. NAD+ ADP-ribosyltransferase activity p.F75F(2) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 17 all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264) TCTTGTAGCTGAATTTGGAAG 0.358000 8 45 0 0 1 0 0 AGPS 8540 broad.mit.edu 37 2 178402821 178402821 + Silent SNP A A G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:178402821A>G ENST00000264167.4 + 20 2021 c.1875A>G c.(1873-1875)caA>caG p.Q625Q AGPS_ENST00000409888.1_Silent_p.Q156Q NM_003659.3 NP_003650.1 O00116 ADAS_HUMAN alkylglycerone phosphate synthase 625 ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity p.Q625Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) TACGGAAGCAATGGCTAAAGG 0.388000 35 219 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21557918 21557918 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:21557918G>C ENST00000382592.4 - 5 2332 c.1927C>G c.(1927-1929)Cag>Gag p.Q643E LATS2_ENST00000542899.1_Missense_Mutation_p.Q643E NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 643 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.Q643E(4) breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) TTCCGCATCTGCTCCTGCTCA 0.458000 8 37 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113256703 113256703 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:113256703C>T ENST00000297405.5 - 65 10566 c.10322G>A c.(10321-10323)gGc>gAc p.G3441D CSMD3_ENST00000455883.2_Missense_Mutation_p.G3272D|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3371D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3401D NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3441 Sushi 28. integral to membrane|plasma membrane p.G3441D(1)|p.G3401D(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TAAGAAGAAGCCAGGCTGACA 0.448000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 19 395 0 0 1 0 0 NSUN6 221078 broad.mit.edu 37 10 18937479 18937479 + Silent SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:18937479C>T ENST00000377304.4 - 2 589 c.171G>A c.(169-171)gtG>gtA p.V57V RP11-139J15.7_ENST00000606425.1_Silent_p.V45V NM_182543.2 NP_872349.1 Q8TEA1 NSUN6_HUMAN NOP2/Sun domain family, member 6 57 methyltransferase activity|RNA binding p.V57V(2) endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 AATGTGTATTCACTCTGACAG 0.338000 29 102 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49048414 49048414 + Nonsense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:49048414G>A ENST00000380950.2 - 20 3218 c.3031C>T c.(3031-3033)Cag>Tag p.Q1011* CEP152_ENST00000399334.3_Nonsense_Mutation_p.Q1011*|CEP152_ENST00000325747.5_Nonsense_Mutation_p.Q918* NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 1011 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding p.Q1011*(2) breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) GTCTCCTTCTGAAGAAGTAGT 0.393000 94 185 0 0 1 0 0 RASA4CP 401331 broad.mit.edu 37 7 44076350 44076350 + RNA SNP T T C rs28378571 by1000genomes TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:44076350T>C ENST00000446874.1 - 0 202 GCTGCCAAAGTTCTTTTCCTC 0.617000 4 27 0 0 1 0 0 ZNF566 84924 broad.mit.edu 37 19 36967453 36967453 + Nonsense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:36967453G>A ENST00000454319.1 - 2 141 c.7C>T c.(7-9)Cag>Tag p.Q3* ZNF566_ENST00000493391.1_5'UTR|ZNF566_ENST00000472909.2_5'UTR|ZNF566_ENST00000434377.2_Nonsense_Mutation_p.Q3*|ZNF566_ENST00000424129.2_Nonsense_Mutation_p.Q3*|ZNF566_ENST00000392170.2_Nonsense_Mutation_p.Q3* NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q3*(2) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) TATCTCACCTGAGCCATGGCT 0.398000 23 121 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45606340 45606340 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:45606340G>T ENST00000267430.5 + 2 662 c.577G>T c.(577-579)Gtc>Ttc p.V193F FANCM_ENST00000556036.1_Missense_Mutation_p.V193F|FANCM_ENST00000542564.2_Missense_Mutation_p.V193F NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 193 Helicase ATP-binding. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding p.V193F(1) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TACACCTCAGGTCATGGTAAA 0.393000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 18 505 3.08376e-08 3.45547e-08 1 1 0 TSPAN3 10099 broad.mit.edu 37 15 77348204 77348204 + Translation_Start_Site SNP A A T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:77348204A>T ENST00000561277.1 - 0 311 TSPAN3_ENST00000267970.4_Splice_Site_p.F86_splice|TSPAN3_ENST00000424443.3_Splice_Site_p.F22_splice|TSPAN3_ENST00000559494.1_Intron|TSPAN3_ENST00000558394.1_Intron|TSPAN3_ENST00000558745.1_De_novo_Start_OutOfFrame|TSPAN3_ENST00000346495.2_Intron O60637 TSN3_HUMAN tetraspanin 3 integral to membrane p.F86Y(2) kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1) 10 all cancers(203;1.14e-19) GATGATGACAAACTGTAAGAA 0.289000 28 65 0 0 1 0 0 GADL1 339896 broad.mit.edu 37 3 30769763 30769763 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:30769763C>T ENST00000282538.5 - 15 1687 c.1537G>A c.(1537-1539)Gag>Aag p.E513K GADL1_ENST00000498387.1_5'UTR NM_207359.2 NP_997242.2 Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 513 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding p.E513K(2)|p.E329K(2) breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) AAGTCTATCTCATCCAGGAGG 0.537000 85 260 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72295931 72295931 + Missense_Mutation SNP T T G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:72295931T>G ENST00000579490.1 + 6 1105 c.970T>G c.(970-972)Tat>Gat p.Y324D DNAI2_ENST00000307504.5_Missense_Mutation_p.Y124D|DNAI2_ENST00000582036.1_Missense_Mutation_p.Y267D|DNAI2_ENST00000446837.2_Missense_Mutation_p.Y267D|DNAI2_ENST00000311014.6_Missense_Mutation_p.Y267D Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 267 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity p.Y267D(2) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 AGACCCTGTGTATGGCACCAT 0.607000 Kartagener syndrome 22 43 0 0 1 0 0 ZNF655 79027 broad.mit.edu 37 7 99171066 99171066 + Silent SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:99171066C>T ENST00000424881.1 + 4 1660 c.1440C>T c.(1438-1440)ttC>ttT p.F480F ZNF655_ENST00000493277.1_Silent_p.F480F|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000394163.2_Silent_p.F445F|ZNF655_ENST00000252713.4_Silent_p.F445F NM_001083956.1|NM_001085368.1 NP_001077425.1|NP_001078837.1 Q8N720 ZN655_HUMAN zinc finger protein 655 445 G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding p.F480F(2)|p.F445F(2) NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 16 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) AGGGCAGTTTCAGTCATAGCT 0.408000 42 210 0 0 1 0 0 SLC44A4 80736 broad.mit.edu 37 6 31833121 31833121 + Silent SNP C C T rs142009471 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:31833121C>T ENST00000544672.1 - 17 1799 c.1503G>A c.(1501-1503)gcG>gcA p.A501A SLC44A4_ENST00000375562.4_Silent_p.A535A|SLC44A4_ENST00000229729.6_Silent_p.A577A NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 577 integral to membrane|plasma membrane choline transmembrane transporter activity p.A577A(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) GTAGCATGAACGCATTTTTGG 0.562000 24 143 0 0 1 0 0 XK 7504 broad.mit.edu 37 X 37587670 37587670 + Silent SNP T T C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chrX:37587670T>C ENST00000378616.3 + 3 1493 c.1290T>C c.(1288-1290)ccT>ccC p.P430P TM4SF2_ENST00000465127.1_Intron NM_021083.2 NP_066569.1 P51811 XK_HUMAN X-linked Kx blood group (McLeod syndrome) 430 amino acid transport integral to membrane protein binding|transporter activity p.P430P(1) breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(315;0.175) AAACAAGTCCTGAGCCTGGTC 0.473000 10 290 0 0 1 0 0 ZNF611 81856 broad.mit.edu 37 19 53208732 53208732 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:53208732C>G ENST00000543227.1 - 6 1850 c.1576G>C c.(1576-1578)Gag>Cag p.E526Q ZNF611_ENST00000595798.1_Missense_Mutation_p.E457Q|ZNF611_ENST00000319783.1_Missense_Mutation_p.E526Q|ZNF611_ENST00000540744.1_Missense_Mutation_p.E526Q|ZNF611_ENST00000602162.1_Missense_Mutation_p.E457Q|ZNF611_ENST00000453741.2_Missense_Mutation_p.E457Q NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 526 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E526Q(2) breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TTATGTGTCTCAAGGCTTGAT 0.358000 135 264 0 0 1 0 0 USP47 55031 broad.mit.edu 37 11 11941942 11941942 + Silent SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:11941942C>T ENST00000339865.5 + 9 1678 c.915C>T c.(913-915)ttC>ttT p.F305F USP47_ENST00000399455.2_Silent_p.F393F|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Silent_p.F373F NM_017944.3 NP_060414.3 Q96K76 UBP47_HUMAN ubiquitin specific peptidase 47 393 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding p.F305F(2) breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 Epithelial(150;0.000339) TGAAAAGATTCGATTTTGATT 0.358000 10 148 0 0 1 0 0 SRGAP1 57522 broad.mit.edu 37 12 64521497 64521497 + Missense_Mutation SNP T T A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:64521497T>A ENST00000355086.3 + 20 3057 c.2533T>A c.(2533-2535)Tta>Ata p.L845I SRGAP1_ENST00000543397.1_Missense_Mutation_p.L782I|SRGAP1_ENST00000357825.3_Missense_Mutation_p.L822I NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 845 axon guidance cytosol p.L845I(2) breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) TGACGGCTATTTAGCCAGGTA 0.597000 19 168 0 0 1 0 0 SH2B1 25970 broad.mit.edu 37 16 28878061 28878061 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:28878061G>C ENST00000337120.5 + 1 3937 c.646G>C c.(646-648)Gat>Cat p.D216H SH2B1_ENST00000322610.8_Missense_Mutation_p.D216H|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.D216H|SH2B1_ENST00000359285.5_Missense_Mutation_p.D216H|SH2B1_ENST00000545570.1_Intron NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 216 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity p.D216H(2) endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 ACTGGTCAGTGATGGAACGTC 0.622000 11 14 0 0 1 0 0 C14orf159 80017 broad.mit.edu 37 14 91691111 91691111 + Silent SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:91691111G>T ENST00000518868.1 + 17 2490 c.1800G>T c.(1798-1800)ctG>ctT p.L600L C14orf159_ENST00000523816.1_Silent_p.L595L|C14orf159_ENST00000523576.1_3'UTR|C14orf159_ENST00000523771.1_Silent_p.L595L|C14orf159_ENST00000522322.1_Silent_p.L595L|C14orf159_ENST00000521077.2_Silent_p.L560L|C14orf159_ENST00000520328.1_Silent_p.L543L|C14orf159_ENST00000428926.2_Silent_p.L595L|C14orf159_ENST00000412671.2_Silent_p.L600L|C14orf159_ENST00000256324.10_Silent_p.L600L|C14orf159_ENST00000525393.2_Silent_p.L471L Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 595 mitochondrion p.L595L(2) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) TGGATGGGCTGCCCTTCCACA 0.572000 43 18 3.09479e-21 3.71671e-21 1 1 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 7 153 0 0 1 0 0 PLCB3 5331 broad.mit.edu 37 11 64029532 64029532 + Silent SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:64029532C>T ENST00000540288.1 + 17 2125 c.2022C>T c.(2020-2022)ctC>ctT p.L674L PLCB3_ENST00000279230.6_Silent_p.L674L|PLCB3_ENST00000325234.5_Silent_p.L607L NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 674 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.L674L(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 TTGTTGCGCTCAACTTCCAGA 0.607000 3 17 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71631126 71631126 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:71631126G>A ENST00000409544.1 + 17 3586 c.2956G>A c.(2956-2958)Gag>Aag p.E986K ZNF638_ENST00000355812.3_Missense_Mutation_p.E986K|ZNF638_ENST00000264447.4_Missense_Mutation_p.E986K NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 986 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding p.E986K(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TATAAAAGATGAGGTAAATCA 0.328000 81 482 0 0 1 0 0 STARD7-AS1 285033 broad.mit.edu 37 2 96906022 96906022 + RNA SNP T T C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:96906022T>C ENST00000446816.1 + 0 564 CCCTTCAGAATACATGGACAA 0.418000 8 33 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57080108 57080108 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:57080108A>G ENST00000532437.1 - 4 2365 c.2054T>C c.(2053-2055)cTg>cCg p.L685P TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.L685P Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 685 Acidic.|Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding p.L685P(2) breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) GAGGTCGTCCAGCCAGCGGGA 0.647000 4 14 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53576594 53576594 + Missense_Mutation SNP A A C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:53576594A>C ENST00000355147.5 - 7 848 c.440T>G c.(439-441)tTc>tGc p.F147C ZNF160_ENST00000599056.1_Intron|ZNF160_ENST00000601421.1_Intron|ZNF160_ENST00000429604.1_Intron|ZNF160_ENST00000418871.1_Intron Q9HCG1 ZN160_HUMAN zinc finger protein 160 0 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) ACAATCTTAGAAGATAGAACC 0.478000 38 76 0 0 1 0 0 GAL3ST4 79690 broad.mit.edu 37 7 99757602 99757602 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:99757602G>A ENST00000360039.4 - 4 1802 c.1410C>T c.(1408-1410)ttC>ttT p.F470F GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000413800.1_Silent_p.F470F|GAL3ST4_ENST00000426974.2_Silent_p.F408F NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 470 cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity p.F470F(1) cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CGGTAGGGGGGAACTGCTTGG 0.532000 11 71 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53589517 53589517 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:53589517G>T ENST00000429604.1 - 4 428 c.13C>A c.(13-15)Cag>Aag p.Q5K ZNF160_ENST00000599056.1_Missense_Mutation_p.Q5K|ZNF160_ENST00000418871.1_Missense_Mutation_p.Q5K|ZNF160_ENST00000355147.5_Missense_Mutation_p.Q5K NM_001102603.1|NM_198893.2 NP_001096073.1|NP_942596.1 Q9HCG1 ZN160_HUMAN zinc finger protein 160 5 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q5K(2)|p.Q5E(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) CACTTTACCTGAGTAAGGGCC 0.428000 58 115 1.85257e-25 2.24636e-25 1 1 0 OBSCN 84033 broad.mit.edu 37 1 228547306 228547306 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:228547306C>A ENST00000284548.11 + 81 18787 c.18713C>A c.(18712-18714)aCc>aAc p.T6238N OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.T3357N|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366707.4_Intron Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6238 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.T6238N(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGAGAAGAGACCATCACCACT 0.642000 2 1 0.0784 0.0799935 1 1 0 VCP 7415 broad.mit.edu 37 9 35059557 35059557 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:35059557G>T ENST00000358901.6 - 14 2832 c.1937C>A c.(1936-1938)cCa>cAa p.P646Q NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 646 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding p.P646Q(2) breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) ATCAGGAAGTGGGATGTAGAT 0.522000 54 57 1.13205e-32 1.39972e-32 1 1 0 FBN2 2201 broad.mit.edu 37 5 127599169 127599169 + Nonsense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:127599169C>A ENST00000508053.1 - 69 9114 c.8140G>T c.(8140-8142)Gag>Tag p.E2714* FBN2_ENST00000262464.4_Nonsense_Mutation_p.E2714* P35556 FBN2_HUMAN fibrillin 2 2714 EGF-like 47; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.E2714*(4) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TAGCCCCCCTCCGTGTTAGAG 0.587000 119 80 3.63811e-69 4.61194e-69 1 1 0 TRAV8-6 28680 broad.mit.edu 37 14 22446767 22446767 + RNA SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:22446767C>G ENST00000390443.3 + 0 69 CATCCAGGCTCCTTAAGGGAA 0.517000 OREG0022573 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 6 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201469469 201469469 + Silent SNP A A G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:201469469A>G ENST00000374700.2 + 9 961 c.720A>G c.(718-720)agA>agG p.R240R NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 240 FAD-binding PCMH-type. 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 p.R240R(1) 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) GCAGTGAGAGAATGATGTGGT 0.463000 93 415 0 0 1 0 0 BAIAP3 8938 broad.mit.edu 37 16 1394491 1394491 + Missense_Mutation SNP G G A rs114280977 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:1394491G>A ENST00000324385.5 + 18 1887 c.1729G>A c.(1729-1731)Gac>Aac p.D577N BAIAP3_ENST00000397489.1_Missense_Mutation_p.D559N|BAIAP3_ENST00000562208.1_Missense_Mutation_p.D519N|BAIAP3_ENST00000568887.1_Missense_Mutation_p.D514N|BAIAP3_ENST00000397488.2_Missense_Mutation_p.D559N|BAIAP3_ENST00000426824.3_Missense_Mutation_p.D542N|BAIAP3_ENST00000421665.2_Missense_Mutation_p.D506N NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 577 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) TGAGTGGTACGACAGGATCCT 0.602000 3 15 0 0 1 0 0 PNPLA8 50640 broad.mit.edu 37 7 108113084 108113084 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:108113084C>T ENST00000426128.2 - 10 2049 c.1924G>A c.(1924-1926)Gac>Aac p.D642N PNPLA8_ENST00000257694.8_Missense_Mutation_p.D704N|PNPLA8_ENST00000453144.1_Missense_Mutation_p.D604N|PNPLA8_ENST00000422087.1_Missense_Mutation_p.D704N|PNPLA8_ENST00000388728.5_Missense_Mutation_p.D642N|PNPLA8_ENST00000436062.1_Missense_Mutation_p.D704N NM_001256009.1 NP_001242938.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 704 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity p.D704N(1) breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 AAATAGGTGTCAGGAGGTAAC 0.378000 5 105 0 0 1 0 0 GRSF1 2926 broad.mit.edu 37 4 71701932 71701932 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:71701932G>C ENST00000254799.6 - 2 574 c.457C>G c.(457-459)Cga>Gga p.R153G GRSF1_ENST00000439371.1_5'UTR|GRSF1_ENST00000545193.1_Missense_Mutation_p.R35G|GRSF1_ENST00000502323.1_5'UTR|GRSF1_ENST00000508091.1_5'UTR NM_002092.3 NP_002083.3 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 153 RRM 1. mRNA polyadenylation mRNA binding|nucleotide binding p.R153G(2) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2) 17 all_hematologic(202;0.21) Lung(101;0.235) CCTTGAGCTCGAATGAGAAAG 0.398000 4 39 0 0 1 0 0 ATP6V1A 523 broad.mit.edu 37 3 113505180 113505180 + Silent SNP A A C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:113505180A>C ENST00000273398.3 + 6 774 c.666A>C c.(664-666)ccA>ccC p.P222P ATP6V1A_ENST00000538620.1_Silent_p.P189P NM_001690.3 NP_001681.2 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A 222 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism p.P222P(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AGAAGCTGCCAGCCAATCATC 0.463000 80 475 0 0 1 0 0 RPN2 6185 broad.mit.edu 37 20 35827584 35827584 + Silent SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:35827584C>G ENST00000237530.6 + 4 746 c.435C>G c.(433-435)ctC>ctG p.L145L RPN2_ENST00000373622.5_Silent_p.L113L NM_002951.3 NP_002942.2 P04844 RPN2_HUMAN ribophorin II 145 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding p.L145L(2) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1) 24 Myeloproliferative disorder(115;0.00878) AAGAAGCACTCAGTGCCCTTA 0.527000 141 418 0 0 1 0 0 HHEX 3087 broad.mit.edu 37 10 94452138 94452138 + Silent SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:94452138C>G ENST00000282728.5 + 2 2174 c.375C>G c.(373-375)ctC>ctG p.L125L HHEX_ENST00000492654.2_5'UTR|HHEX_ENST00000472590.2_5'UTR NM_002729.4 NP_002720.1 Q03014 HHEX_HUMAN hematopoietically expressed homeobox 125 Pro-rich. anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway cytoplasm|nucleus|protein-DNA complex DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding p.L125L(2) kidney(2)|large_intestine(2)|lung(5)|ovary(1) 10 AACCTCTACTCTGGAGCCCCT 0.617000 6 7 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106967651 106967651 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:106967651G>T ENST00000369066.3 + 2 1831 c.1344G>T c.(1342-1344)caG>caT p.Q448H NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 448 sugar binding p.Q448H(1) breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) CAAAGCCACAGCATACATTTT 0.502000 5 62 0.014758 0.0152439 1 1 0 GPR152 390212 broad.mit.edu 37 11 67219321 67219321 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:67219321G>T ENST00000312457.2 - 1 879 c.875C>A c.(874-876)cCc>cAc p.P292H NM_206997.1 NP_996880.1 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 292 integral to membrane|plasma membrane G-protein coupled receptor activity p.P292H(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GCAGAGGAAGGGGCTGAGGCA 0.652000 9 15 2.17888e-05 2.35732e-05 1 1 0 VCAN 1462 broad.mit.edu 37 5 82816704 82816704 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:82816704G>A ENST00000265077.3 + 7 3144 c.2579G>A c.(2578-2580)aGt>aAt p.S860N VCAN_ENST00000512590.2_Missense_Mutation_p.S812N|VCAN_ENST00000342785.4_Missense_Mutation_p.S860N|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 860 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.S860I(1)|p.S860N(1) 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) ATTCCAGATAGTACTCAAAAG 0.413000 9 186 0 0 1 0 0 SLC9A1 6548 broad.mit.edu 37 1 27426971 27426971 + Missense_Mutation SNP C C T rs140504210 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:27426971C>T ENST00000263980.3 - 12 2850 c.2275G>A c.(2275-2277)Gat>Aat p.D759N SLC9A1_ENST00000545949.1_Missense_Mutation_p.D420N NM_003047.4 NP_003038.2 P19634 SL9A1_HUMAN solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 759 regulation of pH integral to membrane sodium:hydrogen antiporter activity p.D759N(1) central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) ATGCCCCCATCGTCGTCCTCG 0.602000 7 63 0 0 1 0 0 TEX33 339669 broad.mit.edu 37 22 37387544 37387544 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr22:37387544A>T ENST00000405091.2 - 6 974 c.723T>A c.(721-723)caT>caA p.H241Q TEX33_ENST00000402860.3_Missense_Mutation_p.H156Q|TEX33_ENST00000381821.1_Missense_Mutation_p.H241Q O43247 EAN57_HUMAN testis expressed 33 241 p.H156Q(2) TCTTCCTGCCATGCCAGTGTT 0.542000 158 234 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072821 17072821 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr22:17072821G>T ENST00000359963.3 - 1 879 c.620C>A c.(619-621)gCg>gAg p.A207E NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 207 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.A207G(1)|p.A207V(1)|p.A207E(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CCCGGGCAGCGCGCACACCCC 0.617000 9 44 0.00621372 0.0065257 1 1 0 GGN 199720 broad.mit.edu 37 19 38876616 38876616 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:38876616G>T ENST00000334928.6 - 3 1418 c.1286C>A c.(1285-1287)cCg>cAg p.P429Q GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA NM_152657.3 NP_689870.3 Q86UU5 GGN_HUMAN gametogenetin 429 Interaction with GGNBP1 (By similarity).|Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis p.P429Q(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGGAGGCCCCGGGCGCATGGG 0.721000 3 5 5.9392e-07 6.56713e-07 1 1 0 FAM47B 170062 broad.mit.edu 37 X 34962140 34962140 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chrX:34962140C>T ENST00000329357.5 + 1 1228 c.1192C>T c.(1192-1194)Cgc>Tgc p.R398C NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 398 p.R398C(2) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 GCCCCATCTCCGCCTGGTGCT 0.582000 74 34 0 0 1 0 0 SLC6A16 28968 broad.mit.edu 37 19 49812634 49812634 + Missense_Mutation SNP A A C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:49812634A>C ENST00000454748.3 - 6 1112 c.911T>G c.(910-912)aTc>aGc p.I304S SLC6A16_ENST00000335875.4_Missense_Mutation_p.I304S Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 304 integral to membrane|intracellular neurotransmitter:sodium symporter activity p.I304S(2) NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) ACCGACAATGATGAAACAGGG 0.493000 31 179 0 0 1 0 0 RECK 8434 broad.mit.edu 37 9 36112407 36112407 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:36112407A>T ENST00000377966.3 + 16 2560 c.1994A>T c.(1993-1995)cAg>cTg p.Q665L NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 665 Kazal-like 1. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity p.Q665L(2) cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) CAAGACCATCAGTTTGAGTTT 0.463000 87 78 0 0 1 0 0 MAN1A2 10905 broad.mit.edu 37 1 117944871 117944871 + Silent SNP A A C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:117944871A>C ENST00000356554.3 + 2 1101 c.366A>C c.(364-366)gcA>gcC p.A122A MAN1A2_ENST00000482811.1_Intron NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 122 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity p.A122A(2) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) TGGAAGAAGCAAAAGAAAAAT 0.373000 24 100 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26881693 26881693 + Missense_Mutation SNP T T C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:26881693T>C ENST00000231021.4 - 12 2094 c.1922A>G c.(1921-1923)aAa>aGa p.K641R NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 641 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.K641R(2) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 AGGTTCCTTTTTTCTTTGCCT 0.388000 47 119 0 0 1 0 0 SLC6A15 55117 broad.mit.edu 37 12 85266387 85266387 + Silent SNP T T A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:85266387T>A ENST00000266682.5 - 8 1837 c.1296A>T c.(1294-1296)ctA>ctT p.L432L SLC6A15_ENST00000309283.7_Silent_p.L140L|SLC6A15_ENST00000552192.1_Silent_p.L325L NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 432 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.L432L(2) kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 TAACTTTATTTAGCTCTTCTT 0.328000 11 65 0 0 1 0 0 VPRBP 9730 broad.mit.edu 37 3 51440599 51440599 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:51440599C>A ENST00000335891.5 - 16 3105 c.3096G>T c.(3094-3096)gaG>gaT p.E1032D Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 1481 interspecies interaction between organisms cytoplasm|nucleus protein binding p.E1485D(2) breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) TCAGTTCCACCTCCTCATCTG 0.527000 27 36 1.414e-09 1.59871e-09 1 1 0 UNC13C 440279 broad.mit.edu 37 15 54305729 54305729 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:54305729G>A ENST00000545554.1 + 1 629 c.629G>A c.(628-630)aGa>aAa p.R210K UNC13C_ENST00000260323.11_Missense_Mutation_p.R210K|UNC13C_ENST00000537900.1_Missense_Mutation_p.R210K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 210 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.R210K(4) 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) TGGGGAATAAGAAGTAAGTCT 0.438000 46 296 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204948557 204948557 + Silent SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:204948557C>A ENST00000367172.4 + 19 2374 c.2046C>A c.(2044-2046)ccC>ccA p.P682P NFASC_ENST00000338515.6_Silent_p.P682P|NFASC_ENST00000401399.1_Silent_p.P682P|NFASC_ENST00000338586.6_Silent_p.P682P|NFASC_ENST00000360049.4_Silent_p.P678P|NFASC_ENST00000513543.1_Silent_p.P678P|NFASC_ENST00000339876.6_Silent_p.P682P|NFASC_ENST00000404076.1_Silent_p.P661P|NFASC_ENST00000367170.4_Silent_p.P682P|NFASC_ENST00000404907.1_Silent_p.P678P|NFASC_ENST00000539706.1_Silent_p.P678P|NFASC_ENST00000367171.4_Silent_p.P667P|NFASC_ENST00000367169.4_Silent_p.P682P O94856 NFASC_HUMAN neurofascin 682 Fibronectin type-III 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding p.P678P(3)|p.P682P(3) NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCAAGTACCCCGGCAGCGTTA 0.572000 38 101 5.04308e-16 5.91501e-16 1 1 0 MARCO 8685 broad.mit.edu 37 2 119735488 119735488 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:119735488A>T ENST00000541757.1 + 9 889 c.509A>T c.(508-510)gAg>gTg p.E170V MARCO_ENST00000327097.4_Missense_Mutation_p.E248V Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 248 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity p.E248V(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 ACTAAGGGAGAGAAAGGAGAC 0.602000 5 27 0 0 1 0 0 ZNF283 284349 broad.mit.edu 37 19 44351558 44351558 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:44351558G>C ENST00000324461.7 + 7 1102 c.805G>C c.(805-807)Ggg>Cgg p.G269R ZNF283_ENST00000588797.1_Missense_Mutation_p.G130R NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 269 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G269R(1) endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) TAAGGAATGTGGGAAGACCTT 0.403000 22 147 0 0 1 0 0 PI15 51050 broad.mit.edu 37 8 75756265 75756265 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:75756265G>A ENST00000260113.2 + 3 502 c.323G>A c.(322-324)tGc>tAc p.C108Y PI15_ENST00000523773.1_Missense_Mutation_p.C108Y|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA NM_015886.3 NP_056970.1 O43692 PI15_HUMAN peptidase inhibitor 15 108 extracellular region peptidase inhibitor activity p.C108Y(2) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1) 30 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) GCGGCTACTTGCATTTGGGAC 0.428000 58 213 0 0 1 0 0 CLCA4 22802 broad.mit.edu 37 1 87045236 87045236 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:87045236G>C ENST00000370563.3 + 13 2364 c.2322G>C c.(2320-2322)tgG>tgC p.W774C RP4-651E10.4_ENST00000456587.1_RNA NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 774 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity p.W774C(2) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) TTCTTACATGGACAGCACCAG 0.408000 266 352 0 0 1 0 0 WDR70 55100 broad.mit.edu 37 5 37727024 37727024 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:37727024C>G ENST00000265107.4 + 17 1910 c.1754C>G c.(1753-1755)tCt>tGt p.S585C NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 585 p.S585C(1) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGCACTCTCTCTTCCTATATT 0.448000 128 280 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108776234 108776234 + Silent SNP G G A rs144305402 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:108776234G>A ENST00000232603.5 - 13 1213 c.1131C>T c.(1129-1131)atC>atT p.I377I MORC1_ENST00000483760.1_Silent_p.I377I NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 377 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding p.I377I(2) breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CATGCATTTTGATCAAACGGT 0.388000 154 319 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553584 140553584 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:140553584C>T ENST00000231137.3 + 1 1342 c.1168C>T c.(1168-1170)Ccc>Tcc p.P390S NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 390 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P390S(2) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGACGATGTCCCCTTCATCCT 0.473000 18 20 0 0 1 0 0 SPDYC 387778 broad.mit.edu 37 11 64940248 64940248 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:64940248C>T ENST00000377185.2 + 6 692 c.610C>T c.(610-612)Cgc>Tgc p.R204C NM_001008778.1 NP_001008778.1 Q5MJ68 SPDYC_HUMAN speedy/RINGO cell cycle regulator family member C 204 cell cycle nucleus protein kinase binding p.R204C(1) breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1) 16 GGTCCCTGTTCGCCTTCCCCG 0.652000 19 21 0 0 1 0 0 VPS33A 65082 broad.mit.edu 37 12 122748723 122748723 + Silent SNP T T A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:122748723T>A ENST00000267199.4 - 2 238 c.126A>T c.(124-126)ctA>ctT p.L42L VPS33A_ENST00000542310.1_5'UTR|VPS33A_ENST00000451053.2_Silent_p.L42L|RP11-512M8.5_ENST00000535844.1_Silent_p.L42L NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 42 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding p.L42L(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) AGGGTCCAGTTAGGTATTCAT 0.343000 30 118 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578433 7578433 + Nonsense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:7578433G>C ENST00000420246.2 - 5 629 c.497C>G c.(496-498)tCa>tGa p.S166* TP53_ENST00000359597.4_Nonsense_Mutation_p.S166*|TP53_ENST00000455263.2_Nonsense_Mutation_p.S166*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S166*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Nonsense_Mutation_p.S166*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S166* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 166 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. S -> A (in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S166*(25)|p.0?(8)|p.S166L(4)|p.Q167fs*14(4)|p.S34*(2)|p.S73*(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CATGTGCTGTGACTGCTTGTA 0.632000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 74 77 0 0 1 0 0 MDGA2 161357 broad.mit.edu 37 14 47566113 47566113 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:47566113A>T ENST00000426342.1 - 6 991 c.245T>A c.(244-246)aTt>aAt p.I82N MDGA2_ENST00000439988.2_Missense_Mutation_p.I311N|MDGA2_ENST00000357362.3_Missense_Mutation_p.I82N|MDGA2_ENST00000399232.2_Missense_Mutation_p.I380N NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 311 Ig-like 1. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 ATTATTGGCAATGCAGCTGTA 0.433000 164 3168 0 0 1 0 0 LIPI 149998 broad.mit.edu 37 21 15561527 15561527 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr21:15561527C>T ENST00000344577.2 - 2 348 c.323G>A c.(322-324)gGc>gAc p.G108D LIPI_ENST00000536861.1_Missense_Mutation_p.G87D NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 87 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity p.G108D(1) endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TGGGATGGAGCCTACTGGTCT 0.393000 11 152 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 93518680 93518680 + Silent SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:93518680C>T ENST00000377067.3 + 8 2079 c.1707C>T c.(1705-1707)ccC>ccT p.P569P NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 569 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.P569P(2) NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TGTTACTTCCCGGGATTTGGT 0.433000 153 388 0 0 1 0 0 ADARB1 104 broad.mit.edu 37 21 46641940 46641940 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr21:46641940C>T ENST00000539173.1 + 12 2489 c.2054C>T c.(2053-2055)tCc>tTc p.S685F ADARB1_ENST00000348831.4_Missense_Mutation_p.S645F|ADARB1_ENST00000389863.4_Missense_Mutation_p.S685F|ADARB1_ENST00000360697.3_Missense_Mutation_p.S685F|ADARB1_ENST00000437626.1_3'UTR NM_015833.3 NP_056648.1 P78563 RED1_HUMAN adenosine deaminase, RNA-specific, B1 685 A to I editase. adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding p.S685F(2) endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1) 17 Colorectal(79;0.115) CAGGTTCCCTCCCACTTACTA 0.488000 6 4 0 0 1 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227472 56227472 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:56227472G>A ENST00000341744.3 - 4 820 c.501C>T c.(499-501)ctC>ctT p.L167L PMEPA1_ENST00000347215.4_Silent_p.L132L|PMEPA1_ENST00000395814.1_Silent_p.L117L|PMEPA1_ENST00000395816.3_Silent_p.L117L|PMEPA1_ENST00000265626.4_Silent_p.L117L NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 167 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding p.L167L(1) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 CCCGAAGCTGGAGGGTGCAGG 0.642000 5 48 0 0 1 0 0 MARK1 4139 broad.mit.edu 37 1 220835506 220835506 + Nonstop_Mutation SNP T T G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:220835506T>G ENST00000402574.1 + 17 2938 c.1936T>G c.(1936-1938)Taa>Gaa p.*646E MARK1_ENST00000366917.4_Nonstop_Mutation_p.*796E|MARK1_ENST00000366918.4_Nonstop_Mutation_p.*759E NM_018650.3 NP_061120.3 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 0 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.*796E(3) central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) GCTTAAGCTGTAAAGAAGTCC 0.393000 11 70 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101631628 101631628 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:101631628G>A ENST00000310954.6 - 1 625 c.339C>T c.(337-339)ctC>ctT p.L113L NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 113 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity p.L113L(2) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TGACGGCCAAGAGGCAGTAGT 0.632000 14 12 0 0 1 0 0 SRSF11 9295 broad.mit.edu 37 1 70687463 70687463 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:70687463G>C ENST00000370950.3 + 2 226 c.144G>C c.(142-144)caG>caC p.Q48H SRSF11_ENST00000436161.2_Missense_Mutation_p.Q48H|SRSF11_ENST00000370951.1_Missense_Mutation_p.Q48H|SRSF11_ENST00000454435.2_Missense_Mutation_p.Q48H|SRSF11_ENST00000405432.1_Missense_Mutation_p.Q48H Q05519 SRS11_HUMAN serine/arginine-rich splicing factor 11 48 RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding p.Q48H(2) large_intestine(3)|ovary(2)|skin(1) 6 GCTCTGAGCAGATGCGGACTC 0.647000 57 41 0 0 1 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142539807 142539807 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:142539807C>T ENST00000295992.3 - 8 1336 c.1030G>A c.(1030-1032)Gag>Aag p.E344K PCOLCE2_ENST00000485766.1_Missense_Mutation_p.R264K NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 344 NTR. extracellular region collagen binding|heparin binding|peptidase activator activity p.E344K(1) NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 AAATTTCCCTCTTTGTAGATG 0.507000 92 181 0 0 1 0 0 LUZP2 338645 broad.mit.edu 37 11 25004819 25004819 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:25004819G>T ENST00000533227.1 + 9 774 c.487G>T c.(487-489)Gat>Tat p.D163Y LUZP2_ENST00000336930.6_Missense_Mutation_p.D249Y NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 249 extracellular region p.D249Y(2) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 TAAGCTTCCAGATGCAGCGGC 0.428000 84 340 3.57987e-33 4.44825e-33 1 1 0 SLITRK5 26050 broad.mit.edu 37 13 88328774 88328774 + Silent SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:88328774G>T ENST00000325089.6 + 2 1350 c.1131G>T c.(1129-1131)gcG>gcT p.A377A SLITRK5_ENST00000400028.3_Silent_p.A136A NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 377 LRRNT. integral to membrane p.A377A(2) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GTCCCACCGCGTGCTCTTGCA 0.577000 11 23 1.52009e-12 1.7502e-12 1 1 0 RIN3 79890 broad.mit.edu 37 14 93118640 93118640 + Nonsense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:93118640C>T ENST00000216487.7 + 6 1405 c.1246C>T c.(1246-1248)Caa>Taa p.Q416* RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 416 Pro-rich. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding p.Q416*(1) endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) CCTGCCTCCCCAAGGGACCTC 0.657000 3 11 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38406296 38406296 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:38406296G>A ENST00000322350.5 + 7 1127 c.781G>A c.(781-783)Gat>Aat p.D261N EGFLAM_ENST00000354891.3_Missense_Mutation_p.D261N|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D27N NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 261 cell junction|proteinaceous extracellular matrix|synapse p.D261N(4) NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TGGTGAGGATGATGAAGGATT 0.473000 76 118 0 0 1 0 0 BAZ2A 11176 broad.mit.edu 37 12 56999683 56999683 + Silent SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:56999683C>T ENST00000179765.5 - 14 2533 c.2334G>A c.(2332-2334)cgG>cgA p.R778R BAZ2A_ENST00000379441.3_Silent_p.R780R|BAZ2A_ENST00000549884.1_Silent_p.R808R|BAZ2A_ENST00000551812.1_Silent_p.R810R Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 810 Lys-rich. chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding p.R810R(4)|p.R846R(2) breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 GCTGCCTCTGCCGTTCCTCCA 0.517000 16 13 0 0 1 0 0 IFNL3 282617 broad.mit.edu 37 19 39734751 39734751 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:39734751A>G ENST00000413851.2 - 3 343 c.305T>C c.(304-306)cTg>cCg p.L102P NM_172139.2 NP_742151.2 interferon, lambda 3 p.L102P(1) CAGAACCTTCAGCGTCAGGGC 0.652000 18 40 0 0 1 0 0 LDHC 3948 broad.mit.edu 37 11 18456297 18456297 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:18456297G>C ENST00000541669.1 + 5 540 c.429G>C c.(427-429)ttG>ttC p.L143F LDHC_ENST00000535809.1_Missense_Mutation_p.L143F|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000536880.1_Missense_Mutation_p.L129F|LDHC_ENST00000544105.1_Missense_Mutation_p.L143F|LDHC_ENST00000546146.1_Missense_Mutation_p.L85F|LDHC_ENST00000280704.4_Missense_Mutation_p.L143F P07864 LDHC_HUMAN lactate dehydrogenase C 143 glycolysis cytoplasm binding|L-lactate dehydrogenase activity p.L143F(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 NADH(DB00157) TGGATATTTTGACATATATAG 0.308000 38 237 0 0 1 0 0 CCDC158 339965 broad.mit.edu 37 4 77247123 77247123 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:77247123G>C ENST00000388914.3 - 22 3196 c.3044C>G c.(3043-3045)tCt>tGt p.S1015C NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 1015 Ser-rich. p.S1015C(2) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 CTTCTTAGGAGAAGAATTGAA 0.358000 107 450 0 0 1 0 0 NFXL1 152518 broad.mit.edu 37 4 47892633 47892633 + Silent SNP T T G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:47892633T>G ENST00000507489.1 - 12 1716 c.1540A>C c.(1540-1542)Aga>Cga p.R514R NFXL1_ENST00000329043.3_Silent_p.R514R|NFXL1_ENST00000381538.3_Silent_p.R514R NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 514 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding p.R514R(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 AGTTTACCTCTGTGACAGACA 0.348000 49 122 0 0 1 0 0 ZNF70 7621 broad.mit.edu 37 22 24087099 24087099 + Nonsense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr22:24087099G>A ENST00000341976.3 - 2 689 c.229C>T c.(229-231)Caa>Taa p.Q77* NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 77 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q77*(2) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 GGGATACTTTGATGCTGAACA 0.488000 52 258 0 0 1 0 0 VSTM1 284415 broad.mit.edu 37 19 54545619 54545619 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:54545619G>A ENST00000338372.2 - 5 574 c.399C>T c.(397-399)acC>acT p.T133T VSTM1_ENST00000376626.1_Intron|VSTM1_ENST00000366170.2_Silent_p.T45T|VSTM1_ENST00000425006.2_3'UTR NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 133 integral to membrane p.T133T(2) breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) AGATGGTTCTGGTGTCTGGAG 0.537000 33 87 0 0 1 0 0 SNAP47 116841 broad.mit.edu 37 1 227946805 227946805 + Missense_Mutation SNP C C T rs143092410 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:227946805C>T ENST00000366759.4 + 3 1156 c.742C>T c.(742-744)Ccc>Tcc p.P248S SNAP47_ENST00000315781.5_Missense_Mutation_p.P248S|SNAP47_ENST00000366760.1_Missense_Mutation_p.P6S NM_053052.3 NP_444280.2 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 248 endomembrane system|membrane|perinuclear region of cytoplasm p.P248S(1) endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CAGTTGTGAACCCTTTGGGAA 0.493000 4 78 0 0 1 0 0 SLC27A1 376497 broad.mit.edu 37 19 17612097 17612097 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:17612097C>A ENST00000252595.7 + 11 1749 c.1652C>A c.(1651-1653)gCa>gAa p.A551E SLC27A1_ENST00000442725.1_Missense_Mutation_p.A551E|SLC27A1_ENST00000598848.1_Intron|SLC27A1_ENST00000598424.1_Missense_Mutation_p.A372E|CTD-3131K8.2_ENST00000596643.1_lincRNA NM_198580.1 NP_940982.1 Q6PCB7 S27A1_HUMAN solute carrier family 27 (fatty acid transporter), member 1 551 cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding p.A551E(4) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 GAGGGTAAGGCAGGGATGGCG 0.642000 10 7 0.000978159 0.00103594 1 1 0 DCST1 149095 broad.mit.edu 37 1 155015885 155015885 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:155015885G>A ENST00000295542.1 + 10 1168 c.1072G>A c.(1072-1074)Gag>Aag p.E358K DCST1_ENST00000392480.1_Missense_Mutation_p.E358K|DCST1_ENST00000368419.2_Missense_Mutation_p.E358K|DCST1_ENST00000423025.2_Missense_Mutation_p.E333K NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 358 integral to membrane zinc ion binding p.E358K(2) breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CGTGAGCACCGAGGTGCGGGA 0.667000 17 60 0 0 1 0 0 CCDC39 339829 broad.mit.edu 37 3 180372586 180372586 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:180372586C>A ENST00000273654.4 - 13 1765 c.1146G>T c.(1144-1146)caG>caT p.Q382H CCDC39_ENST00000442201.2_Missense_Mutation_p.Q298H Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 298 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton p.Q298H(2)|p.Q382H(2) NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTTCATGGTCCTGATATGCCG 0.343000 38 90 1.07234e-20 1.28171e-20 1 1 0 COL11A1 1301 broad.mit.edu 37 1 103364245 103364245 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:103364245G>A ENST00000358392.2 - 56 4578 c.4261C>T c.(4261-4263)Ctt>Ttt p.L1421F COL11A1_ENST00000370096.3_Missense_Mutation_p.L1409F|COL11A1_ENST00000512756.1_Missense_Mutation_p.L1293F|COL11A1_ENST00000353414.4_Missense_Mutation_p.L1370F NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1409 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.L1409F(2)|p.L1421F(2) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ATGCCCCGAAGACCTTCTGGA 0.453000 17 59 0 0 1 0 0 GOLM1 51280 broad.mit.edu 37 9 88661457 88661457 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:88661457C>G ENST00000388712.3 - 5 563 c.395G>C c.(394-396)gGc>gCc p.G132A GOLM1_ENST00000388711.3_Missense_Mutation_p.G132A|GOLM1_ENST00000257504.6_5'UTR NM_016548.3 NP_057632.2 Q8NBJ4 GOLM1_HUMAN golgi membrane protein 1 132 Golgi apparatus|integral to plasma membrane p.G132A(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 CTGCAGCCTGCCGTAATTCCT 0.532000 32 23 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33632679 33632679 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:33632679C>A ENST00000374316.5 + 13 2241 c.1181C>A c.(1180-1182)aCc>aAc p.T394N ITPR3_ENST00000605930.1_Missense_Mutation_p.T394N Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 394 MIR 5. activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding p.T394N(4) NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 CACCTCTGCACCAACACGTGG 0.662000 11 39 0.0242445 0.0249401 1 1 0 GALNT11 63917 broad.mit.edu 37 7 151818708 151818708 + Silent SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:151818708C>T ENST00000434507.1 + 14 2210 c.1773C>T c.(1771-1773)gtC>gtT p.V591V GALNT11_ENST00000320311.2_Silent_p.V591V|GALNT11_ENST00000452146.2_Silent_p.V510V|RP5-981O7.2_ENST00000424630.1_RNA|GALNT11_ENST00000430044.2_Silent_p.V591V Q8NCW6 GLT11_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 591 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.V591V(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) AGGGCTCTGTCGCCATGGCGA 0.532000 14 55 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26747039 26747039 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr22:26747039G>T ENST00000529632.2 + 12 2625 c.2429G>T c.(2428-2430)gGa>gTa p.G810V SEZ6L_ENST00000403121.1_Missense_Mutation_p.G583V|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000411842.2_Missense_Mutation_p.G7V|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G810V|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G810V|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G583V|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G810V NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 810 Sushi 4. endoplasmic reticulum membrane|integral to membrane p.G810V(2) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 ACCGACCCCGGAGAGGTGGAT 0.527000 21 97 3.28513e-13 3.81744e-13 1 1 0 LZTS1 11178 broad.mit.edu 37 8 20112537 20112537 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:20112537G>A ENST00000381569.1 - 2 513 c.156C>T c.(154-156)caC>caT p.H52H LZTS1_ENST00000265801.6_Silent_p.H52H|LZTS1_ENST00000522290.1_Silent_p.H52H Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 52 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.H52H(2) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) TGGACTTGCCGTGACCGGAGT 0.577000 33 42 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5219402 5219402 + Missense_Mutation SNP T T C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:5219402T>C ENST00000372412.4 - 23 4078 c.3845A>G c.(3844-3846)gAg>gGg p.E1282G PTPRS_ENST00000587303.1_Missense_Mutation_p.E1281G|PTPRS_ENST00000357368.4_Missense_Mutation_p.E1281G|PTPRS_ENST00000348075.2_Missense_Mutation_p.E1259G|PTPRS_ENST00000262963.6_Missense_Mutation_p.E1277G|PTPRS_ENST00000353284.2_Missense_Mutation_p.E850G|PTPRS_ENST00000592099.1_Missense_Mutation_p.E850G|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.E1259G Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1281 cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GATAAGCCCCTCCTCGCCATC 0.587000 4 21 0 0 1 0 0 OR56A3 390083 broad.mit.edu 37 11 5969183 5969183 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:5969183C>A ENST00000329564.6 + 1 614 c.607C>A c.(607-609)Caa>Aaa p.Q203K NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q203K(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCACCTTTACCAATTTGCTGG 0.478000 45 392 2.81731e-22 3.39973e-22 1 1 0 MSH2 4436 broad.mit.edu 37 2 47709956 47709956 + Silent SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:47709956G>C ENST00000233146.2 + 16 2896 c.2673G>C c.(2671-2673)gtG>gtC p.V891V MSH2_ENST00000461394.1_Intron|MSH2_ENST00000543555.1_Silent_p.V825V|MSH2_ENST00000406134.1_Intron NM_000251.2 NP_000242.1 P43246 MSH2_HUMAN mutS homolog 2 891 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.V891V(2)|p.0?(2)|p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TGTCCAAGGTGAAACAAATGC 0.313000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 12 37 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274206 39274206 + Missense_Mutation SNP C C T rs79388709 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:39274206C>T ENST00000391413.2 - 1 400 c.362G>A c.(361-363)aGa>aAa p.R121K NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 121 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.R121K(5) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gcactggggtctgcagcagct 0.652000 6 96 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219874697 219874697 + Missense_Mutation SNP G G T rs145107151 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:219874697G>T ENST00000341552.5 - 27 4502 c.4419C>A c.(4417-4419)ttC>ttA p.F1473L AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.F1473L|CCDC108_ENST00000453220.1_Missense_Mutation_p.F1473L NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1473 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTGCCAGGAGAAGGCAATTT 0.552000 3 4 0.00909568 0.00943395 1 1 0 PCDHB4 56131 broad.mit.edu 37 5 140503320 140503320 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:140503320G>A ENST00000194152.1 + 1 1740 c.1740G>A c.(1738-1740)gaG>gaA p.E580E NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 580 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.E580E(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGCGGCCGAGCCGGGCTACC 0.697000 5 12 0 0 1 0 0 ID3 3399 broad.mit.edu 37 1 23885762 23885762 + Silent SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:23885762C>T ENST00000374561.5 - 1 523 c.156G>A c.(154-156)cgG>cgA p.R52R ID3_ENST00000486541.1_5'UTR NM_002167.4 NP_002158.3 Q02535 ID3_HUMAN inhibitor of DNA binding 3, dominant negative helix-loop-helix protein 52 Helix-loop-helix motif. negative regulation of sequence-specific DNA binding transcription factor activity transcription corepressor activity p.R52R(2) central_nervous_system(1)|lung(3) 4 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) GTACCAGTTCCCGCAGGCGGG 0.642000 10 25 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152733114 152733114 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:152733114C>G ENST00000368773.1 + 2 1108 c.1050C>G c.(1048-1050)atC>atG p.I350M KPRP_ENST00000606109.1_Missense_Mutation_p.I350M NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 350 Pro-rich. cytoplasm p.I350M(2) NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCTCCCATCAGACGCCGCT 0.652000 11 50 0 0 1 0 0 CES1P1 51716 broad.mit.edu 37 16 55806422 55806422 + RNA SNP T T A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:55806422T>A ENST00000571348.1 + 0 724 NR_003276.2 GAGGAGAAAGTGTCTCTGTTC 0.557000 14 34 0 0 1 0 0 FAM86DP 692099 broad.mit.edu 37 3 75471230 75471230 + RNA SNP C C T rs11716994 by1000genomes TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:75471230C>T ENST00000459803.1 - 0 1911 NR_024241.1 CTGCAGGAGTCGCAGCAGCTC 0.522000 3 24 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55175634 55175634 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:55175634G>A ENST00000421030.2 + 24 4031 c.3746G>A c.(3745-3747)aGa>aAa p.R1249K MROH7_ENST00000454855.2_Missense_Mutation_p.R767K|MROH7_ENST00000409996.1_Missense_Mutation_p.R817K|MROH7_ENST00000414150.2_Intron NM_001039464.2 NP_001034553.2 maestro heat-like repeat family member 7 p.R1246K(2)|p.R1249K(2) GATAACTTGAGACATGACCCA 0.572000 19 93 0 0 1 0 0 TSSK3 81629 broad.mit.edu 37 1 32829545 32829545 + Silent SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:32829545G>C ENST00000373534.3 + 2 1000 c.495G>C c.(493-495)ctG>ctC p.L165L FAM229A_ENST00000415596.1_Intron NM_052841.3 NP_443073.1 Q96PN8 TSSK3_HUMAN testis-specific serine kinase 3 165 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.L165L(2) NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212) ACCGGGAGCTGAGCCAGACCT 0.572000 33 78 0 0 1 0 0 HSDL2 84263 broad.mit.edu 37 9 115171264 115171264 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:115171264C>G ENST00000398805.3 + 4 585 c.358C>G c.(358-360)Ctg>Gtg p.L120V HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000539114.1_5'UTR|HSDL2_ENST00000398803.1_Intron|HSDL2_ENST00000262542.7_5'UTR NM_032303.4 NP_115679.2 Q6YN16 HSDL2_HUMAN hydroxysteroid dehydrogenase like 2 120 peroxisome oxidoreductase activity|sterol binding p.L120V(1) NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 13 GAGATTGGATCTGATGATGAA 0.408000 89 289 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144942315 144942315 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:144942315C>T ENST00000525985.1 - 2 5178 c.5107G>A c.(5107-5109)Gtg>Atg p.V1703M P58107 EPIPL_HUMAN epiplakin 1 1703 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGGTAGGCCACGTCCACGGGC 0.677000 3 10 0 0 1 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356290 37356290 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:37356290C>A ENST00000217420.1 + 2 849 c.586C>A c.(586-588)Ccg>Acg p.P196T NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 196 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity p.P196T(1) breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CTGCTGCGCCCCGCGCTTCCC 0.632000 8 14 0.00829132 0.00867134 1 1 0 SAP30BP 29115 broad.mit.edu 37 17 73689542 73689542 + Missense_Mutation SNP G G C rs150596591 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:73689542G>C ENST00000584667.1 + 4 544 c.287G>C c.(286-288)cGa>cCa p.R96P SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.R80P NM_013260.6 NP_037392.1 Q9UHR5 S30BP_HUMAN SAP30 binding protein 96 apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.R96P(2) kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1) 17 all_cancers(13;6.42e-08) all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GCAGAAAAGCGAGACCCCCAG 0.552000 11 53 0 0 1 0 0 CLK1 1195 broad.mit.edu 37 2 201719419 201719419 + Splice_Site SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:201719419C>A ENST00000434813.2 - 11 1601 c.e11-1 CLK1_ENST00000409769.2_Splice_Site|CLK1_ENST00000321356.4_Splice_Site NM_001162407.1 NP_001155879.1 P49759 CLK1_HUMAN CDC-like kinase 1 cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity p.?(4) NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 TATCGTGTGTCTAGAAATAAA 0.368000 39 203 1.48646e-12 1.71936e-12 1 1 0 OSER1 51526 broad.mit.edu 37 20 42831602 42831602 + Splice_Site SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:42831602C>A ENST00000372970.2 - 5 370 c.191_splice c.e5+1 p.G64_splice OSER1_ENST00000255174.2_Splice_Site_p.G64_splice oxidative stress responsive serine-rich 1 p.G64W(2) AGCTCTTACCCGTGCCAACTG 0.383000 48 133 3.16986e-14 3.70063e-14 1 1 0 LRCH4 4034 broad.mit.edu 37 7 100179736 100179736 + Silent SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:100179736G>T ENST00000310300.6 - 3 472 c.420C>A c.(418-420)gtC>gtA p.V140V LRCH4_ENST00000497245.1_5'UTR NM_002319.3 NP_002310.2 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 140 nervous system development PML body protein binding p.V140V(2) NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGACGATGAGGACCCTCAGGG 0.637000 7 12 1.26484e-09 1.43654e-09 1 1 0 ZRSR1 7310 broad.mit.edu 37 5 112227939 112227939 + Silent SNP T T C rs712666 by1000genomes TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:112227939T>C ENST00000391338.1 + 1 627 c.603T>C c.(601-603)tcT>tcC p.S201S REEP5_ENST00000504247.1_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000545426.1_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000513339.1_Intron NM_001204199.1 NP_001191128.1 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 p.S201S(1) breast(1)|skin(1)|stomach(2) 4 TCCCAACATCTAGTCCTACCC 0.453000 16 227 0 0 1 0 0 SDCBP2 27111 broad.mit.edu 37 20 1298989 1298989 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:1298989G>A ENST00000360779.3 - 4 371 c.198C>T c.(196-198)agC>agT p.S66S SDCBP2_ENST00000339987.3_Silent_p.S66S|SDCBP2_ENST00000381812.1_Silent_p.S66S NM_080489.4 NP_536737.3 Q9H190 SDCB2_HUMAN syndecan binding protein (syntenin) 2 66 intracellular signal transduction|intracellular transport|nervous system development cytoplasm protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity p.S66S(2) endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1) 7 TCTGAAGCAGGCTCTCCTGGA 0.478000 4 78 0 0 1 0 0 GOLGA1 2800 broad.mit.edu 37 9 127693657 127693657 + Missense_Mutation SNP T T C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:127693657T>C ENST00000373555.4 - 4 497 c.164A>G c.(163-165)gAt>gGt p.D55G NM_002077.3 NP_002068.1 Q92805 GOGA1_HUMAN golgin A1 55 Golgi cisterna membrane p.D55G(2) NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 GGATGAAAGATCTTCTCTGGA 0.433000 51 45 0 0 1 0 0 RCOR2 283248 broad.mit.edu 37 11 63679947 63679947 + Missense_Mutation SNP G G C rs144368985 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:63679947G>C ENST00000301459.4 - 11 1474 c.1087C>G c.(1087-1089)Ctg>Gtg p.L363V NM_173587.3 NP_775858.2 Q8IZ40 RCOR2_HUMAN REST corepressor 2 363 SANT 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 17 ACCTGGGTCAGAGTCTTGTTC 0.567000 3 27 0 0 1 0 0 KCNK18 338567 broad.mit.edu 37 10 118969302 118969302 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:118969302C>A ENST00000334549.1 + 3 647 c.647C>A c.(646-648)aCa>aAa p.T216K NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 216 integral to membrane|plasma membrane p.T216K(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) AAACTTGGCACATGTCCTTCA 0.527000 14 42 7.05477e-17 8.31336e-17 1 1 0 EXPH5 23086 broad.mit.edu 37 11 108380461 108380461 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:108380461C>T ENST00000265843.4 - 6 5883 c.5773G>A c.(5773-5775)Gat>Aat p.D1925N EXPH5_ENST00000428840.1_Missense_Mutation_p.D1849N|EXPH5_ENST00000443411.1_Missense_Mutation_p.D1737N|EXPH5_ENST00000525344.1_Missense_Mutation_p.D1918N NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1925 intracellular protein transport Rab GTPase binding p.D1925N(2) breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTCCTCAAATCATCTTTTAGG 0.408000 20 55 0 0 1 0 0 ZMYM2 7750 broad.mit.edu 37 13 20608525 20608525 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:20608525G>C ENST00000382869.3 + 11 2351 c.2100G>C c.(2098-2100)aaG>aaC p.K700N ZMYM2_ENST00000382874.2_Missense_Mutation_p.K700N|ZMYM2_ENST00000382871.2_Missense_Mutation_p.K700N|ZMYM2_ENST00000382883.3_Missense_Mutation_p.K182N|ZMYM2_ENST00000382870.2_Missense_Mutation_p.K80N NM_001190965.1|NM_003453.3|NM_197968.2 NP_001177894.1|NP_003444.1|NP_932072.1 Q9UBW7 ZMYM2_HUMAN zinc finger, MYM-type 2 700 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding p.K700N(4) large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) CTGGCGTTAAGAGACCTTTCT 0.343000 82 280 0 0 1 0 0 OR4C11 219429 broad.mit.edu 37 11 55371624 55371624 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:55371624C>A ENST00000302231.4 - 1 250 c.226G>T c.(226-228)Gcc>Tcc p.A76S NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A76S(2) endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 AATCTAGGGGCTGTGGAAGTT 0.398000 97 48 8.62921e-31 1.06173e-30 1 1 0 PCDHB1 29930 broad.mit.edu 37 5 140431299 140431299 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:140431299G>C ENST00000306549.3 + 1 321 c.244G>C c.(244-246)Gga>Cga p.G82R NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 82 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G82R(2) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGCAAGACGGGAGATTTGTT 0.572000 24 81 0 0 1 0 0 JADE3 9767 broad.mit.edu 37 X 46913983 46913983 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chrX:46913983C>T ENST00000218343.4 + 9 1694 c.1396C>T c.(1396-1398)Cac>Tac p.H466Y PHF16_ENST00000397189.1_Missense_Mutation_p.H466Y NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 466 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding p.H466Y(2) NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 GGAAAGCATTCACACTCGAAT 0.453000 27 24 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171083381 171083381 + Missense_Mutation SNP A A C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:171083381A>C ENST00000367755.4 + 7 1173 c.1062A>C c.(1060-1062)aaA>aaC p.K354N FMO3_ENST00000542847.1_Missense_Mutation_p.K334N|FMO3_ENST00000538429.1_Missense_Mutation_p.K291N|FMO3_ENST00000392085.2_Missense_Mutation_p.K354N NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 354 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity p.K354N(2) endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTTTATTTAAAGGAGTATTTC 0.443000 65 189 0 0 1 0 0 TRPC3 7222 broad.mit.edu 37 4 122828657 122828657 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:122828657C>A ENST00000264811.5 - 6 2057 c.1639G>T c.(1639-1641)Gtg>Ttg p.V547L TRPC3_ENST00000513531.1_Missense_Mutation_p.V492L|TRPC3_ENST00000379645.3_Missense_Mutation_p.V620L NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 535 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity p.V547L(2) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 AAGCTGAGCACAACAGCTATG 0.443000 95 107 3.18938e-35 3.98276e-35 1 1 0 MYCBP2 23077 broad.mit.edu 37 13 77847609 77847609 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:77847609G>C ENST00000407578.2 - 5 1209 c.943C>G c.(943-945)Cag>Gag p.Q315E MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.Q277E|MYCBP2_ENST00000357337.6_Missense_Mutation_p.Q277E NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 277 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding p.Q277E(4)|p.Q315E(2) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TGAAATACCTGAATAGTTTGG 0.398000 34 152 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186678562 186678562 + Silent SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:186678562G>C ENST00000343098.5 + 18 20385 c.20385G>C c.(20383-20385)acG>acC p.T6795T FSIP2_ENST00000424728.1_Silent_p.T6706T NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 p.T1404T(4) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CACTAAGCACGAGCAGCCTGA 0.358000 57 57 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28211923 28211923 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:28211923A>T ENST00000354638.3 - 15 1704 c.1549T>A c.(1549-1551)Tgc>Agc p.C517S OCA2_ENST00000382996.2_Missense_Mutation_p.C517S|OCA2_ENST00000353809.5_Missense_Mutation_p.C493S NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 517 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding p.C517S(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AGAACAAGGCAAATCCCAATG 0.493000 Oculocutaneous Albinism 29 50 0 0 1 0 0 ZNF141 7700 broad.mit.edu 37 4 367007 367007 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:367007G>A ENST00000240499.7 + 4 930 c.781G>A c.(781-783)Ggc>Agc p.G261S ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron NM_003441.2 NP_003432.1 Q15928 ZN141_HUMAN zinc finger protein 141 261 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding p.G261S(2) breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 18 TGAAGAATGTGGCAAAGCCTT 0.368000 70 79 0 0 1 0 0 CAPN3 825 broad.mit.edu 37 15 42702827 42702827 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:42702827C>G ENST00000397163.3 + 21 2445 c.2226C>G c.(2224-2226)atC>atG p.I742M RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.I649M|CAPN3_ENST00000569136.1_Missense_Mutation_p.I77M|CAPN3_ENST00000357568.3_Missense_Mutation_p.I736M|CAPN3_ENST00000561817.1_Missense_Mutation_p.I77M|CAPN3_ENST00000397200.4_Missense_Mutation_p.I230M|CAPN3_ENST00000397204.4_Missense_Mutation_p.I77M|CAPN3_ENST00000349748.3_Missense_Mutation_p.I650M|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000318023.7_Missense_Mutation_p.I736M|CAPN3_ENST00000337571.4_Missense_Mutation_p.I77M NM_000070.2 NP_000061.1 P20807 CAN3_HUMAN calpain 3, (p94) 742 Domain IV.|EF-hand 3. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity p.I649M(2)|p.I736M(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) CCGGCACCATCAACAGCTACG 0.512000 61 125 0 0 1 0 0 KRT74 121391 broad.mit.edu 37 12 52967174 52967174 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:52967174C>T ENST00000549343.1 - 1 426 c.388G>A c.(388-390)Gac>Aac p.D130N KRT74_ENST00000305620.2_Missense_Mutation_p.D130N Q7RTS7 K2C74_HUMAN keratin 74 130 Head. keratin filament structural molecule activity p.D130N(2) kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) ATCTCAGGGTCCAGCTCCACG 0.602000 15 111 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55451720 55451720 + Missense_Mutation SNP C C T rs61746625 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:55451720C>T ENST00000588756.1 - 6 953 c.467G>A c.(466-468)cGg>cAg p.R156Q NLRP7_ENST00000590030.1_Missense_Mutation_p.R156Q|NLRP7_ENST00000340844.2_Missense_Mutation_p.R156Q|NLRP7_ENST00000448121.2_Missense_Mutation_p.R156Q|NLRP7_ENST00000446217.1_Missense_Mutation_p.R184Q|NLRP7_ENST00000328092.5_Missense_Mutation_p.R156Q|NLRP7_ENST00000592784.1_Missense_Mutation_p.R156Q Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 156 ATP binding p.R156Q(2) autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TGGAATGAACCGTTGGTTTCT 0.502000 10 320 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175049473 175049473 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:175049473G>T ENST00000239462.4 + 4 1072 c.959G>T c.(958-960)gGt>gTt p.G320V NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 320 Fibronectin type-III 1. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix p.G320V(2) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GAGATTCTTGGTTTGCTGCCT 0.537000 13 54 0.000308642 0.000328259 1 1 0 SOX7 83595 broad.mit.edu 37 8 10583367 10583367 + Missense_Mutation SNP C C A rs147348948 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:10583367C>A ENST00000304501.1 - 2 1126 c.1048G>T c.(1048-1050)Gcc>Tcc p.A350S SOX7_ENST00000554914.1_Missense_Mutation_p.A402S|SOX7_ENST00000553390.1_Missense_Mutation_p.A402S NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 350 Sox C-terminal. endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) CCACTGAGGGCCATGGCCCCT 0.597000 3 30 0.115264 0.117131 1 1 0 PIGM 93183 broad.mit.edu 37 1 160001137 160001137 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:160001137C>G ENST00000368090.2 - 1 646 c.393G>C c.(391-393)tgG>tgC p.W131C NM_145167.2 NP_660150.1 Q9H3S5 PIGM_HUMAN phosphatidylinositol glycan anchor biosynthesis, class M 131 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane p.W131C(2) kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGTTAAGAAGCCAAAAGACAC 0.562000 29 149 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22154332 22154332 + Silent SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:22154332G>T ENST00000397126.4 - 4 3652 c.3504C>A c.(3502-3504)ccC>ccA p.P1168P ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.P1040P(4)|p.P1168P(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CACATTTGTAGGGTTTCTCTA 0.363000 29 32 7.16026e-08 7.98767e-08 1 1 0 ZNF852 285346 broad.mit.edu 37 3 44541963 44541963 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:44541963G>A ENST00000436261.1 - 4 466 c.306C>T c.(304-306)ccC>ccT p.P102P ZNF852_ENST00000489411.1_5'UTR B6EU87 B6EU87_HUMAN zinc finger protein 852 102 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.P102P(4)|p.P52P(2) endometrium(2)|kidney(1)|lung(5) 8 CTTCATTTGAGGGTTGTCCTT 0.408000 20 19 0 0 1 0 0 PLEKHO2 80301 broad.mit.edu 37 15 65152098 65152098 + Silent SNP C C T rs28503503 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:65152098C>T ENST00000323544.4 + 4 413 c.285C>T c.(283-285)agC>agT p.S95S AC069368.3_ENST00000437723.1_Silent_p.S95S NM_001195059.1|NM_025201.4 NP_001181988.1|NP_079477.2 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O member 2 95 PH. NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 CACAGGTCAGCGACATCAAAT 0.483000 11 291 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10429161 10429161 + Missense_Mutation SNP T T A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:10429161T>A ENST00000245503.5 - 31 4604 c.4220A>T c.(4219-4221)gAg>gTg p.E1407V CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1407V NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1407 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TACATGTTCCTCAGCTGCCTG 0.483000 4 79 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5827176 5827176 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chrX:5827176C>A ENST00000381095.3 - 4 1357 c.730G>T c.(730-732)Gac>Tac p.D244Y NLGN4X_ENST00000538097.1_Missense_Mutation_p.D244Y|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D244Y|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D264Y|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D244Y NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 244 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.D244F(1)|p.D244Y(1) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 CTCTTGGGGTCCCCGCCAAAG 0.567000 10 37 5.16669e-11 5.92164e-11 1 1 0 TOMM70A 9868 broad.mit.edu 37 3 100100548 100100548 + Silent SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:100100548C>A ENST00000284320.5 - 5 1243 c.795G>T c.(793-795)acG>acT p.T265T NM_014820.4 NP_055635.3 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) 265 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity p.T265T(2) endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 32 TGATATCATCCGTGAAAGAAC 0.378000 70 168 3.4779e-39 4.36476e-39 1 1 0 ATMIN 23300 broad.mit.edu 37 16 81069732 81069732 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:81069732G>T ENST00000299575.4 + 1 281 c.257G>T c.(256-258)tGc>tTc p.C86F NM_015251.2 NP_056066.2 O43313 ATMIN_HUMAN ATM interactor 86 response to DNA damage stimulus nucleus zinc ion binding p.C86F(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 AACATCCTGTGCACCGTGCGC 0.736000 3 8 0.00909568 0.00943395 1 1 0 MYO7A 4647 broad.mit.edu 37 11 76871264 76871264 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:76871264G>C ENST00000409709.3 + 11 1408 c.1136G>C c.(1135-1137)gGg>gCg p.G379A MYO7A_ENST00000409893.1_Missense_Mutation_p.G379A|MYO7A_ENST00000458637.2_Missense_Mutation_p.G379A|MYO7A_ENST00000409619.2_Missense_Mutation_p.G368A NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 379 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity p.G379A(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 ATCACCCGCGGGGAGACGGTG 0.667000 4 10 0 0 1 0 0 C9orf131 138724 broad.mit.edu 37 9 35042966 35042966 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:35042966C>A ENST00000312292.5 + 2 387 c.340C>A c.(340-342)Ctg>Atg p.L114M C9orf131_ENST00000421362.2_Missense_Mutation_p.L66M|C9orf131_ENST00000354479.5_Missense_Mutation_p.L41M NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 114 p.L114M(2) cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) cgaggCATCTCTGGATCCACT 0.557000 58 55 9.40535e-28 1.14599e-27 1 1 0 CTBP2 1488 broad.mit.edu 37 10 126683170 126683170 + Silent SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:126683170C>A ENST00000309035.6 - 5 2398 c.2268G>T c.(2266-2268)ggG>ggT p.G756G CTBP2_ENST00000334808.6_Silent_p.G284G|CTBP2_ENST00000494626.2_Silent_p.G216G|CTBP2_ENST00000531469.1_Silent_p.G216G|CTBP2_ENST00000411419.2_Silent_p.G216G|CTBP2_ENST00000337195.5_Silent_p.G216G NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 216 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding p.G756G(1)|p.G216G(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) ACCGCTCGATCCCATCCTGCA 0.557000 28 67 2.42023e-17 2.86546e-17 1 1 0 PRG4 10216 broad.mit.edu 37 1 186277527 186277527 + Silent SNP T T C rs75928540 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:186277527T>C ENST00000445192.2 + 7 2721 c.2676T>C c.(2674-2676)agT>agC p.S892S PRG4_ENST00000367485.4_Silent_p.S799S|PRG4_ENST00000367483.4_Silent_p.S851S|PRG4_ENST00000367484.3_Silent_p.S421S|PRG4_ENST00000367486.3_Silent_p.S849S NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 892 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.S892S(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 TTGAAAACAGTCCCAAGGAAC 0.458000 4 40 0 0 1 0 0 KLHL25 64410 broad.mit.edu 37 15 86311732 86311732 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:86311732G>T ENST00000337975.5 - 2 1584 c.1310C>A c.(1309-1311)gCc>gAc p.A437D KLHL25_ENST00000536947.1_Missense_Mutation_p.A437D|KLHL25_ENST00000559131.1_Intron NM_022480.3 NP_071925.2 Q9H0H3 ENC2_HUMAN kelch-like family member 25 437 cytoplasm p.A437D(2) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 25 CACCACTGCGGCATTGCTGAC 0.587000 11 55 7.93312e-07 8.73339e-07 1 1 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 5 59 0 0 1 0 0 MED1 5469 broad.mit.edu 37 17 37564674 37564674 + Missense_Mutation SNP G G A rs138417070 by1000genomes TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:37564674G>A ENST00000300651.6 - 17 4023 c.3800C>T c.(3799-3801)aCg>aTg p.T1267M MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 1267 Interaction with TP53.|Ser-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.T1267M(2) NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) GGAAGATGCCGTACAGGAATT 0.478000 HNSCC(31;0.082) 5 84 0 0 1 0 0 C1orf222 339457 broad.mit.edu 37 1 1920356 1920356 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:1920356C>T ENST00000434971.2 - 3 156 c.124G>A c.(124-126)Gag>Aag p.E42K Q69YW0 CA222_HUMAN chromosome 1 open reading frame 222 0 p.E42K(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1) 11 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) ACGTCATCCTCAGCTTCCTGT 0.532000 3 23 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128366435 128366435 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:128366435G>A ENST00000389524.4 + 22 2849 c.2796G>A c.(2794-2796)caG>caA p.Q932Q MYO7B_ENST00000428314.1_Silent_p.Q932Q|MYO7B_ENST00000409816.2_Silent_p.Q932Q Q6PIF6 MYO7B_HUMAN myosin VIIB 932 apical plasma membrane|myosin complex actin binding|ATP binding|motor activity p.Q932Q(4) breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) AGGAGGGCCAGGCCTCGCCGC 0.622000 5 9 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123599915 123599915 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:123599915G>A ENST00000340011.5 + 5 1779 c.1422G>A c.(1420-1422)gaG>gaA p.E474E SPAM1_ENST00000460182.1_Silent_p.E474E|SPAM1_ENST00000402183.2_Silent_p.E474E|SPAM1_ENST00000439500.1_Silent_p.E474E|SPAM1_ENST00000223028.7_Silent_p.E474E NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 474 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 p.E474E(4) 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) CTCCCATGGAGACAGAAGAAC 0.383000 59 142 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 88935340 88935340 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:88935340C>A ENST00000556564.1 - 18 3600 c.3316G>T c.(3316-3318)Gtc>Ttc p.V1106F PTPN21_ENST00000328736.3_Missense_Mutation_p.V1106F NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 1106 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity p.V1106F(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CTGCAGTGGACCAACAACGGA 0.498000 8 107 0.411799 0.415106 1 1 0 KCNH7 90134 broad.mit.edu 37 2 163253285 163253285 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:163253285C>G ENST00000332142.5 - 11 2677 c.2578G>C c.(2578-2580)Gag>Cag p.E860Q NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 860 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.E860Q(2) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) AAAGTCAACTCTAGGTTTGTT 0.363000 79 61 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66933233 66933233 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:66933233C>G ENST00000269080.2 - 4 462 c.325G>C c.(325-327)Gat>Cat p.D109H ABCA8_ENST00000586539.1_Missense_Mutation_p.D109H|ABCA8_ENST00000430352.2_Missense_Mutation_p.D109H NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 109 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.D109H(2) breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) CTTTCCTCATCTGGCAGTCCC 0.338000 56 78 0 0 1 0 0 KLK14 43847 broad.mit.edu 37 19 51581323 51581323 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:51581323C>T ENST00000391802.1 - 7 963 c.745G>A c.(745-747)Gtc>Atc p.V249I KLK14_ENST00000156499.2_Missense_Mutation_p.V249I NM_022046.4 NP_071329.2 Q9P0G3 KLK14_HUMAN kallikrein-related peptidase 14 249 Peptidase S1. epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction extracellular space serine-type endopeptidase activity p.V233I(2)|p.V249I(2) kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 11 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422) TTGGTGTAGACACCGGGGTAG 0.622000 18 113 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86305044 86305044 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:86305044C>T ENST00000263857.6 - 11 1696 c.1318G>A c.(1318-1320)Gct>Act p.A440T POLR1A_ENST00000409681.1_Missense_Mutation_p.A440T O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 440 YA -> ST (in Ref. 1; AAC99959). termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding p.A440T(2) NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GAGCGCGCAGCGTAGTCCACT 0.453000 77 407 0 0 1 0 0 INTS2 57508 broad.mit.edu 37 17 59988888 59988888 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:59988888C>G ENST00000444766.3 - 7 1046 c.971G>C c.(970-972)gGa>gCa p.G324A INTS2_ENST00000251334.6_Missense_Mutation_p.G316A NM_020748.2 NP_065799.1 Q9H0H0 INT2_HUMAN integrator complex subunit 2 324 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding p.G324A(2) NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 CACCTGCTGTCCATTTCGGAT 0.388000 44 77 0 0 1 0 0 SLC35A1 10559 broad.mit.edu 37 6 88218187 88218187 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:88218187G>A ENST00000369552.4 + 6 651 c.624G>A c.(622-624)gtG>gtA p.V208V SLC35A1_ENST00000464978.1_3'UTR|SLC35A1_ENST00000369557.5_Intron|SLC35A1_ENST00000544441.1_Silent_p.V74V|SLC35A1_ENST00000369556.3_Intron|C6orf165_ENST00000506888.1_3'UTR NM_006416.4 NP_006407.1 P78382 S35A1_HUMAN solute carrier family 35 (CMP-sialic acid transporter), member A1 208 carbohydrate metabolic process|protein modification process Golgi membrane|integral to plasma membrane CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity p.V208V(2) breast(1)|kidney(3)|large_intestine(2)|lung(3) 9 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0429) CTCTTTGGGTGAGAAACATTC 0.294000 28 42 0 0 1 0 0 SFTPC 6440 broad.mit.edu 37 8 22019351 22019351 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:22019351G>A ENST00000521315.1 + 1 42 c.10G>A c.(10-12)Ggc>Agc p.G4S SFTPC_ENST00000524255.1_Missense_Mutation_p.G4S|SFTPC_ENST00000522109.1_Missense_Mutation_p.G4S|SFTPC_ENST00000520605.1_Missense_Mutation_p.G4S|SFTPC_ENST00000437090.2_Missense_Mutation_p.G4S|SFTPC_ENST00000318561.3_Missense_Mutation_p.G4S P11686 PSPC_HUMAN surfactant protein C 4 respiratory gaseous exchange extracellular space p.G4S(1) autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GATGGATGTGGGCAGCAAAGA 0.587000 3 30 0 0 1 0 0 WBSCR28 135886 broad.mit.edu 37 7 73280019 73280019 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:73280019C>T ENST00000320531.2 + 3 650 c.614C>T c.(613-615)aCc>aTc p.T205I NM_182504.3 NP_872310.2 Q6UE05 WBS28_HUMAN Williams-Beuren syndrome chromosome region 28 205 integral to membrane breast(2)|kidney(2)|lung(6)|skin(1) 11 Lung NSC(55;0.159) TATCTCATCACCTGGACCACC 0.617000 5 108 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108434855 108434855 + Missense_Mutation SNP A A C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:108434855A>C ENST00000263054.6 - 14 1899 c.1892T>G c.(1891-1893)tTt>tGt p.F631C SORCS1_ENST00000344440.6_Missense_Mutation_p.F631C|SORCS1_ENST00000369698.1_Missense_Mutation_p.F166C NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 631 integral to membrane neuropeptide receptor activity|protein binding p.F631C(2) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CCCATCCACAAAAAGTGGAAT 0.398000 137 163 0 0 1 0 0 PI15 51050 broad.mit.edu 37 8 75756266 75756266 + Silent SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:75756266C>T ENST00000260113.2 + 3 503 c.324C>T c.(322-324)tgC>tgT p.C108C PI15_ENST00000523773.1_Silent_p.C108C|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA NM_015886.3 NP_056970.1 O43692 PI15_HUMAN peptidase inhibitor 15 108 extracellular region peptidase inhibitor activity p.C108Y(2) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1) 30 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) CGGCTACTTGCATTTGGGACC 0.433000 57 214 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 139894884 139894884 + Silent SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:139894884C>T ENST00000458420.3 + 2 391 c.201C>T c.(199-201)gcC>gcT p.A67A NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 67 Cadherin 1. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding p.A67A(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CACTGGTAGCCCTGGATAAAG 0.468000 HNSCC(16;0.037) 36 218 0 0 1 0 0 FAM184A 79632 broad.mit.edu 37 6 119345909 119345909 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:119345909C>T ENST00000338891.7 - 2 672 c.229G>A c.(229-231)Gaa>Aaa p.E77K FAM184A_ENST00000522284.1_5'UTR|FAM184A_ENST00000352896.5_5'UTR|FAM184A_ENST00000521531.1_Missense_Mutation_p.E77K|FAM184A_ENST00000368475.4_5'UTR|RP11-351A11.1_ENST00000518570.1_RNA NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 77 p.E77K(2) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 ATTTCTTCTTCATGAGCATCT 0.338000 43 23 0 0 1 0 0 SLC22A4 6583 broad.mit.edu 37 5 131630701 131630701 + Splice_Site SNP A A T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:131630701A>T ENST00000200652.3 + 1 566 c.393_splice c.e1+1 p.E131_splice P4HA2_ENST00000471826.1_Intron NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 131 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity p.E131V(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) GTCGTGACCGAGGTGGGTGCC 0.701000 2 2 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28202874 28202874 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:28202874C>A ENST00000354638.3 - 16 1799 c.1644G>T c.(1642-1644)aaG>aaT p.K548N OCA2_ENST00000382996.2_Missense_Mutation_p.K548N|OCA2_ENST00000353809.5_Missense_Mutation_p.K524N NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 548 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding p.K548N(2)|p.K548K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GAATCTCGTGCTTCAGTTCTG 0.612000 Oculocutaneous Albinism 22 54 2.79863e-10 3.19299e-10 1 1 0 HNRNPC 3183 broad.mit.edu 37 14 21699132 21699132 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:21699132G>A ENST00000320084.7 - 3 580 c.341C>T c.(340-342)cCg>cTg p.P114L HNRNPC_ENST00000553300.1_Intron|HNRNPC_ENST00000555309.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000556513.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000556142.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000555914.1_Intron|HNRNPC_ENST00000555883.1_Intron|HNRNPC_ENST00000336053.6_Intron|HNRNPC_ENST00000556897.1_Intron|HNRNPC_ENST00000420743.2_Missense_Mutation_p.P114L|HNRNPC_ENST00000430246.2_Intron|HNRNPC_ENST00000554455.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000554969.1_Intron|HNRNPC_ENST00000553753.1_Intron|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000557201.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000449098.1_Intron NM_001077442.1 NP_001070910.1 P07910 HNRPC_HUMAN heterogeneous nuclear ribonucleoprotein C (C1/C2) 114 catalytic step 2 spliceosome|nucleoplasm identical protein binding|nucleotide binding|RNA binding p.P114L(1) breast(1)|liver(1)|lung(6)|skin(1) 9 all_cancers(95;0.00176) Epithelial(56;1.08e-06)|all cancers(55;8.95e-06) GBM - Glioblastoma multiforme(265;0.00783) TAGAGGGGACGGAGAAGGGTG 0.478000 17 247 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73458031 73458031 + Missense_Mutation SNP T T C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:73458031T>C ENST00000377110.2 - 5 932 c.689A>G c.(688-690)cAt>cGt p.H230R TRPM3_ENST00000377105.1_Missense_Mutation_p.H77R|TRPM3_ENST00000377111.2_Missense_Mutation_p.H230R|TRPM3_ENST00000396280.5_Missense_Mutation_p.H77R|TRPM3_ENST00000358082.3_Missense_Mutation_p.H77R|TRPM3_ENST00000361823.5_Missense_Mutation_p.H77R|TRPM3_ENST00000377101.1_Missense_Mutation_p.H77R|TRPM3_ENST00000396285.1_Missense_Mutation_p.H77R|TRPM3_ENST00000396292.4_Missense_Mutation_p.H77R|TRPM3_ENST00000396283.1_Missense_Mutation_p.H77R|TRPM3_ENST00000377106.1_Missense_Mutation_p.H77R|TRPM3_ENST00000408909.2_Missense_Mutation_p.H77R|TRPM3_ENST00000377097.3_Missense_Mutation_p.H77R|TRPM3_ENST00000423814.3_Missense_Mutation_p.H232R|TRPM3_ENST00000360823.2_Missense_Mutation_p.H77R|TRPM3_ENST00000357533.2_Missense_Mutation_p.H232R NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 230 integral to membrane calcium channel activity p.H77R(1)|p.H232R(1)|p.H230R(1) NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 ATCGCCAACATGACGAATAAC 0.403000 6 61 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81601108 81601108 + Missense_Mutation SNP C C T rs78086631 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:81601108C>T ENST00000356860.3 - 26 2464 c.2126G>A c.(2125-2127)aGt>aAt p.S709N CACNA2D1_ENST00000356253.5_Missense_Mutation_p.S721N NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 721 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TTTCTGCTTACTCCAGTAATT 0.308000 4 80 0 0 1 0 0 RTBDN 83546 broad.mit.edu 37 19 12939476 12939476 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:12939476C>T ENST00000393233.2 - 5 785 c.236G>A c.(235-237)aGg>aAg p.R79K RTBDN_ENST00000589272.1_Silent_p.Q152Q|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000458671.2_Silent_p.Q120Q|RTBDN_ENST00000322912.5_Silent_p.Q152Q|RTBDN_ENST00000592204.1_Silent_p.Q130Q NM_001270440.1 NP_001257369.1 Q9BSG5 RTBDN_HUMAN retbindin 0 extracellular region p.Q152Q(1) kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12 CCTACCAGGCCTGGCAGAGCT 0.647000 4 13 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077532 19077532 + Missense_Mutation SNP G G A rs60756581 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:19077532G>A ENST00000329773.2 - 2 505 c.418C>T c.(418-420)Cgc>Tgc p.R140C NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 140 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding p.R140C(2) NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 CTGGGGCGGCGGCAGCGATAC 0.607000 64 222 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 64045267 64045267 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:64045267C>A ENST00000443617.2 - 8 1879 c.1792G>T c.(1792-1794)Gat>Tat p.D598Y NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 598 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity p.D598Y(4) NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CTGTTGGTATCACCATGACCA 0.343000 18 79 0.006122 0.0064564 1 1 0 FLNB 2317 broad.mit.edu 37 3 58156414 58156414 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:58156414G>T ENST00000295956.4 + 46 7899 c.7734G>T c.(7732-7734)agG>agT p.R2578S FLNB_ENST00000429972.2_Missense_Mutation_p.R2567S|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000419752.2_Missense_Mutation_p.R2398S|FLNB_ENST00000358537.3_Missense_Mutation_p.R2554S|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.R2537S|FLNB_ENST00000493452.1_Missense_Mutation_p.R2385S|FLNB_ENST00000490882.1_Missense_Mutation_p.R2609S NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 2578 Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail (By similarity). actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding p.R2609S(1)|p.R2578S(1) NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) TCAAGGAGAGGGGCGATTATG 0.547000 4 85 1 1 1 1 0 HOXB3 3213 broad.mit.edu 37 17 46628504 46628504 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:46628504C>T ENST00000470495.1 - 2 1935 c.488G>A c.(487-489)gGa>gAa p.G163E HOXB3_ENST00000311626.4_Missense_Mutation_p.G163E|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.G29E|HOXB3_ENST00000460160.1_Missense_Mutation_p.G31E|HOXB3_ENST00000472863.1_Missense_Mutation_p.G90E|HOXB3_ENST00000485909.2_Missense_Mutation_p.G31E|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.G163E|HOXB3_ENST00000476342.1_Missense_Mutation_p.G163E|HOXB3_ENST00000489475.1_Missense_Mutation_p.G90E P14651 HXB3_HUMAN homeobox B3 163 Gly-rich. angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G163E(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 accactgcctccgccgccgcc 0.711000 2 0 0 0 1 0 0 CEP57 9702 broad.mit.edu 37 11 95546154 95546154 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:95546154G>C ENST00000325542.5 + 3 499 c.261G>C c.(259-261)agG>agC p.R87S CEP57_ENST00000537677.1_Missense_Mutation_p.R60S|CEP57_ENST00000538658.1_Missense_Mutation_p.R87S|CEP57_ENST00000325486.5_Missense_Mutation_p.R87S|CEP57_ENST00000541150.1_Missense_Mutation_p.R78S|CEP57_ENST00000536587.1_3'UTR NM_001243776.1|NM_014679.4 NP_001230705.1|NP_055494.2 Q86XR8 CEP57_HUMAN centrosomal protein 57kDa 87 centrosome localization domain (CLD) (By similarity). fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development centrosome|cytosol|Golgi apparatus|microtubule|nucleus fibroblast growth factor binding|protein homodimerization activity p.R87S(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AACTTGAGAGGATTCAGGCAG 0.368000 Mosaic Variegated Aneuploidy Syndrome 25 151 0 0 1 0 0 PIGG 54872 broad.mit.edu 37 4 515659 515659 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:515659G>C ENST00000453061.2 + 8 1649 c.1543G>C c.(1543-1545)Gcc>Ccc p.A515P PIGG_ENST00000310340.5_Missense_Mutation_p.A507P|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.A382P|PIGG_ENST00000509768.1_Missense_Mutation_p.A426P|PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000504346.1_Missense_Mutation_p.A426P|PIGG_ENST00000536264.1_3'UTR NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 515 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity p.A507P(2) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 GATGGTGCTGGCCTCGGCGCT 0.587000 21 58 0 0 1 0 0 GAL3ST4 79690 broad.mit.edu 37 7 99757573 99757573 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:99757573G>A ENST00000360039.4 - 4 1831 c.1439C>T c.(1438-1440)aCt>aTt p.T480I GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.T480I|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.T418I NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 480 cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGGCCTTGAAGTCTTGAGGGG 0.547000 6 73 0 0 1 0 0 RSPH6A 81492 broad.mit.edu 37 19 46305469 46305469 + Silent SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:46305469C>A ENST00000221538.3 - 4 1849 c.1707G>T c.(1705-1707)ctG>ctT p.L569L RSPH6A_ENST00000597055.1_Silent_p.L569L|RSPH6A_ENST00000600188.1_Silent_p.L305L NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 569 Glu-rich. intracellular p.L569L(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 cctcctcccccaggtcctcct 0.627000 2 1 0.0784 0.0799935 1 1 0 RYR2 6262 broad.mit.edu 37 1 237995884 237995884 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:237995884G>T ENST00000366574.2 + 105 15158 c.14841G>T c.(14839-14841)agG>agT p.R4947S RYR2_ENST00000542537.1_Missense_Mutation_p.R4931S|RYR2_ENST00000360064.6_Missense_Mutation_p.R4953S|RYR2_ENST00000462585.1_3'UTR NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4947 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 p.R4945S(2) 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) ATCAAGAAAGGTGTTGGGAAT 0.388000 48 110 9.40535e-28 1.14599e-27 1 1 0 SLC6A16 28968 broad.mit.edu 37 19 49812634 49812634 + Missense_Mutation SNP A A C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:49812634A>C ENST00000454748.3 - 6 1112 c.911T>G c.(910-912)aTc>aGc p.I304S SLC6A16_ENST00000335875.4_Missense_Mutation_p.I304S Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 304 integral to membrane|intracellular neurotransmitter:sodium symporter activity p.I304S(2) NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) ACCGACAATGATGAAACAGGG 0.493000 11 81 0 0 0.020292 0 0 OR51Q1 390061 broad.mit.edu 37 11 5444131 5444131 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:5444131C>A ENST00000300778.4 + 1 791 c.701C>A c.(700-702)gCt>gAt p.A234D HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A234D(2) endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCACCTGGGCTGAGCGACTC 0.483000 96 131 1.69331e-39 2.20035e-39 0.048971 1 0 LIG3 3980 broad.mit.edu 37 17 33329065 33329065 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:33329065G>A ENST00000378526.4 + 18 2749 c.2616G>A c.(2614-2616)aaG>aaA p.K872K LIG3_ENST00000262327.5_Silent_p.K872K NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 872 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding p.K872K(1)|p.K785K(1) endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) CCCCCAGCAAGCCCTCAGCCA 0.572000 Other BER factors 9 103 0 0 0.047766 0 0 RPN2 6185 broad.mit.edu 37 20 35827457 35827457 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:35827457C>G ENST00000237530.6 + 4 619 c.308C>G c.(307-309)tCt>tGt p.S103C RPN2_ENST00000373622.5_Missense_Mutation_p.S71C NM_002951.3 NP_002942.2 P04844 RPN2_HUMAN ribophorin II 103 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding p.S103C(2) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1) 24 Myeloproliferative disorder(115;0.00878) TCTTAGATCTCTATTTCAAAT 0.468000 70 164 0 0 0.048971 0 0 RMND5B 64777 broad.mit.edu 37 5 177570722 177570722 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:177570722C>T ENST00000515098.1 + 7 872 c.521C>T c.(520-522)gCg>gTg p.A174V RMND5B_ENST00000313386.4_Missense_Mutation_p.A174V|RMND5B_ENST00000542098.1_Missense_Mutation_p.A161V Q96G75 RMD5B_HUMAN required for meiotic nuclear division 5 homolog B (S. cerevisiae) 174 CTLH. p.A174V(2) endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 17 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGGGTCCTGCGTTGGAGTAA 0.527000 19 40 0 0 0.043863 0 0 CMYA5 202333 broad.mit.edu 37 5 79054629 79054629 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:79054629A>G ENST00000446378.2 + 7 11195 c.11164A>G c.(11164-11166)Aca>Gca p.T3722A CMYA5_ENST00000505466.1_3'UTR NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3722 Fibronectin type-III 1. perinuclear region of cytoplasm p.T3722A(2) NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CACCAGCACAACAATTGCAGT 0.378000 38 30 0 0 0.023175 0 0 RPP40 10799 broad.mit.edu 37 6 4996626 4996626 + Nonsense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:4996626A>T ENST00000380051.2 - 6 632 c.588T>A c.(586-588)taT>taA p.Y196* RPP40_ENST00000319533.5_Nonsense_Mutation_p.Y173*|RPP40_ENST00000464646.1_Nonsense_Mutation_p.Y136* NM_006638.2 NP_006629.2 O75818 RPP40_HUMAN ribonuclease P/MRP 40kDa subunit 196 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity p.Y196*(1) NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 14 Ovarian(93;0.11) all_hematologic(90;0.0895) ACTTGGAAAAATATGACATCA 0.453000 17 162 0 0 0.033300 0 0 PCDH17 27253 broad.mit.edu 37 13 58208543 58208543 + Silent SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:58208543G>T ENST00000377918.3 + 1 1889 c.1863G>T c.(1861-1863)ggG>ggT p.G621G NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 621 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GCGAGAGCGGGCGTCTCACCT 0.657000 10 162 4.3838e-07 4.73368e-07 0.016723 1 0 DLL4 54567 broad.mit.edu 37 15 41222861 41222861 + Silent SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:41222861A>T ENST00000249749.5 + 3 651 c.375A>T c.(373-375)ccA>ccT p.P125P NM_019074.3 NP_061947.1 Q9NR61 DLL4_HUMAN delta-like 4 (Drosophila) 125 blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding p.P125P(1) breast(3)|large_intestine(1) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) GGCACGCGCCAGGAGACGACC 0.652000 OREG0023070 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 25 0 0 0.013537 0 0 CLCA2 9635 broad.mit.edu 37 1 86900422 86900422 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:86900422G>T ENST00000370565.4 + 6 1128 c.966G>T c.(964-966)atG>atT p.M322I NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 322 VWFA. cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) CCAGCAAGATGGCAGAGGTAA 0.398000 5 131 0.000602214 0.000626739 0.014758 1 0 TANK 10010 broad.mit.edu 37 2 162036261 162036261 + Missense_Mutation SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:162036261T>A ENST00000392749.2 + 2 327 c.88T>A c.(88-90)Tta>Ata p.L30I TANK_ENST00000457476.1_Missense_Mutation_p.L30I|TANK_ENST00000402568.1_Missense_Mutation_p.L88I|TANK_ENST00000406287.1_Missense_Mutation_p.L88I|TANK_ENST00000405852.1_Missense_Mutation_p.L30I|TANK_ENST00000403609.1_Missense_Mutation_p.L30I|TANK_ENST00000259075.2_Missense_Mutation_p.L30I NM_001199135.1 NP_001186064.1 Q92844 TANK_HUMAN TRAF family member-associated NFKB activator 30 cytosol metal ion binding|protein binding p.L30I(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1) 21 AGTAAAAGAATTACAGCAAAA 0.378000 4 36 0 0 0.014758 0 0 PDZD2 23037 broad.mit.edu 37 5 31799826 31799826 + Silent SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:31799826G>C ENST00000438447.1 + 2 859 c.471G>C c.(469-471)ggG>ggC p.G157G PDZD2_ENST00000282493.3_Silent_p.G157G O15018 PDZD2_HUMAN PDZ domain containing 2 157 PDZ 1. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 ATGTCAGTGGGGCCAGGTAAG 0.572000 7 222 0 0 0.029380 0 0 C11orf30 56946 broad.mit.edu 37 11 76227233 76227233 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:76227233C>T ENST00000529032.1 + 10 1561 c.1561C>T c.(1561-1563)Cgg>Tgg p.R521W C11orf30_ENST00000524490.1_Missense_Mutation_p.R437W|C11orf30_ENST00000525919.1_Missense_Mutation_p.R522W|C11orf30_ENST00000525038.1_Missense_Mutation_p.R536W|C11orf30_ENST00000334736.3_Missense_Mutation_p.R521W|C11orf30_ENST00000533248.1_Missense_Mutation_p.R535W|C11orf30_ENST00000524767.1_Missense_Mutation_p.R536W|C11orf30_ENST00000343878.3_Missense_Mutation_p.R521W Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 521 Thr-rich. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.R521W(2) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 ATCCATTGGTCGGATGGCTGC 0.473000 37 128 0 0 0.021022 0 0 LTBP3 4054 broad.mit.edu 37 11 65318931 65318931 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:65318931C>G ENST00000301873.5 - 10 1831 c.1563G>C c.(1561-1563)gaG>gaC p.E521D LTBP3_ENST00000322147.4_Missense_Mutation_p.E521D|LTBP3_ENST00000536982.1_Missense_Mutation_p.E147D NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 521 extracellular region calcium ion binding|growth factor binding p.E521D(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 GCACTGACCTCTCCTCACTCA 0.637000 25 79 0 0 0.027356 0 0 LHX8 431707 broad.mit.edu 37 1 75608822 75608822 + Missense_Mutation SNP T T G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:75608822T>G ENST00000294638.5 + 6 1073 c.409T>G c.(409-411)Tct>Gct p.S137A LHX8_ENST00000356261.3_Missense_Mutation_p.S127A NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 137 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S137A(2) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 AACTCGCTGCTCTCGATGTGG 0.443000 17 61 0 0 0.055883 0 0 TM4SF19 116211 broad.mit.edu 37 3 196050777 196050777 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:196050777G>T ENST00000446879.1 - 5 662 c.537C>A c.(535-537)ttC>ttA p.F179L TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000454715.1_Missense_Mutation_p.L155M|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19_ENST00000273695.3_Missense_Mutation_p.L181M Q96DZ7 T4S19_HUMAN transmembrane 4 L six family member 19 0 integral to membrane p.L181M(2) endometrium(2)|kidney(2)|large_intestine(3)|lung(5) 12 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) CTGATGCACAGAAGGGCGGAG 0.567000 19 116 3.57192e-18 4.36991e-18 0.038395 1 0 DCAF8L2 347442 broad.mit.edu 37 X 27766598 27766598 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chrX:27766598C>T ENST00000451261.2 + 5 1985 c.1586C>T c.(1585-1587)gCg>gTg p.A529V NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 p.A496V(2) central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 CCTGTGTTGGCGTGCAGTGGC 0.473000 17 4 0 0 0.028581 0 0 PIK3R3 8503 broad.mit.edu 37 1 46511639 46511639 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:46511639A>G ENST00000262741.5 - 9 1827 c.1138T>C c.(1138-1140)Ttc>Ctc p.F380L PIK3R3_ENST00000423209.1_Missense_Mutation_p.F321L|PIK3R3_ENST00000354242.4_Missense_Mutation_p.F321L|PIK3R3_ENST00000340332.6_Missense_Mutation_p.F285L|PIK3R3_ENST00000372006.1_Missense_Mutation_p.F380L|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000420542.1_Missense_Mutation_p.F380L|PIK3R3_ENST00000540385.1_Missense_Mutation_p.F426L NM_003629.3 NP_003620.3 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 (gamma) 380 SH2 2. insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding p.F380L(1) endometrium(1)|large_intestine(5)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(166;0.155) CGAATTAAGAATGCACCATCA 0.398000 30 132 0 0 0.054565 0 0 DDX42 11325 broad.mit.edu 37 17 61869884 61869884 + Translation_Start_Site SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:61869884G>A ENST00000359353.5 + 0 300 DDX42_ENST00000578681.1_Missense_Mutation_p.D112N|DDX42_ENST00000583590.1_Missense_Mutation_p.D112N|DDX42_ENST00000457800.2_Missense_Mutation_p.D112N|DDX42_ENST00000389924.2_Missense_Mutation_p.D112N Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding p.D112N(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 TTCTGACAGCGATGATGATCC 0.398000 15 102 0 0 0.012319 0 0 EBF3 253738 broad.mit.edu 37 10 131646712 131646712 + Nonsense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:131646712G>A ENST00000368648.3 - 11 1117 c.1045C>T c.(1045-1047)Cag>Tag p.Q349* EBF3_ENST00000355311.5_Nonsense_Mutation_p.Q358* NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 358 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding p.Q349*(3)|p.Q358*(3) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) TGCAACCTCTGAAAGCCGTAA 0.468000 53 192 0 0 0.048971 0 0 PTPRT 11122 broad.mit.edu 37 20 40730910 40730910 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:40730910G>A ENST00000373198.3 - 27 3869 c.3634C>T c.(3634-3636)Cgg>Tgg p.R1212W PTPRT_ENST00000373193.3_Missense_Mutation_p.R1193W|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1180W|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1190W|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1189W|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1200W|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1199W NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1190 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TCCTCGGGCCGCACACGGGGT 0.562000 5 203 0 0 0.021553 0 0 PARP11 57097 broad.mit.edu 37 12 3938098 3938098 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:3938098G>A ENST00000228820.4 - 3 390 c.246C>T c.(244-246)ttC>ttT p.F82F PARP11_ENST00000427057.2_Intron|PARP11_ENST00000447133.3_Intron|PARP11_ENST00000397096.2_Silent_p.F75F NM_020367.4 NP_065100.2 Q9NR21 PAR11_HUMAN poly (ADP-ribose) polymerase family, member 11 75 WWE. NAD+ ADP-ribosyltransferase activity p.F75F(2) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 17 all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264) TCTTGTAGCTGAATTTGGAAG 0.358000 11 80 0 0 0.008291 0 0 AGPS 8540 broad.mit.edu 37 2 178402821 178402821 + Silent SNP A A G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:178402821A>G ENST00000264167.4 + 20 2021 c.1875A>G c.(1873-1875)caA>caG p.Q625Q AGPS_ENST00000409888.1_Silent_p.Q156Q NM_003659.3 NP_003650.1 O00116 ADAS_HUMAN alkylglycerone phosphate synthase 625 ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity p.Q625Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) TACGGAAGCAATGGCTAAAGG 0.388000 6 84 0 0 0.038147 0 0 GPR124 25960 broad.mit.edu 37 8 37692771 37692771 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:37692771G>A ENST00000412232.2 + 12 1701 c.1688G>A c.(1687-1689)aGg>aAg p.R563K GPR124_ENST00000315215.7_Intron NM_032777.9 NP_116166.9 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 563 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity p.R556K(1) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GCCTTCCAGAGGAGGGAGGGA 0.672000 23 52 0 0 0.021523 0 0 LATS2 26524 broad.mit.edu 37 13 21557918 21557918 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:21557918G>C ENST00000382592.4 - 5 2332 c.1927C>G c.(1927-1929)Cag>Gag p.Q643E LATS2_ENST00000542899.1_Missense_Mutation_p.Q643E NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 643 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.Q643E(4) breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) TTCCGCATCTGCTCCTGCTCA 0.458000 17 64 0 0 0.043863 0 0 NSUN6 221078 broad.mit.edu 37 10 18937479 18937479 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:18937479C>T ENST00000377304.4 - 2 589 c.171G>A c.(169-171)gtG>gtA p.V57V RP11-139J15.7_ENST00000606425.1_Silent_p.V45V NM_182543.2 NP_872349.1 Q8TEA1 NSUN6_HUMAN NOP2/Sun domain family, member 6 57 methyltransferase activity|RNA binding p.V57V(2) endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 AATGTGTATTCACTCTGACAG 0.338000 11 51 0 0 0.010729 0 0 CEP152 22995 broad.mit.edu 37 15 49048414 49048414 + Nonsense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:49048414G>A ENST00000380950.2 - 20 3218 c.3031C>T c.(3031-3033)Cag>Tag p.Q1011* CEP152_ENST00000325747.5_Nonsense_Mutation_p.Q918*|CEP152_ENST00000399334.3_Nonsense_Mutation_p.Q1011* NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 1011 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding p.Q1011*(2) breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) GTCTCCTTCTGAAGAAGTAGT 0.393000 35 62 0 0 0.015359 0 0 SEZ6L 23544 broad.mit.edu 37 22 26747039 26747039 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr22:26747039G>T ENST00000529632.2 + 12 2625 c.2429G>T c.(2428-2430)gGa>gTa p.G810V SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G583V|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G583V|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G810V|SEZ6L_ENST00000411842.2_Missense_Mutation_p.G7V|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G810V|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G810V NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 810 Sushi 4. endoplasmic reticulum membrane|integral to membrane p.G810V(2) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 ACCGACCCCGGAGAGGTGGAT 0.527000 31 214 9.8876e-21 1.23595e-20 0.021022 1 0 FANCM 57697 broad.mit.edu 37 14 45606340 45606340 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:45606340G>T ENST00000267430.5 + 2 662 c.577G>T c.(577-579)Gtc>Ttc p.V193F FANCM_ENST00000556036.1_Missense_Mutation_p.V193F|FANCM_ENST00000542564.2_Missense_Mutation_p.V193F NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 193 Helicase ATP-binding. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding p.V193F(1) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TACACCTCAGGTCATGGTAAA 0.393000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 20 565 5.35267e-07 5.75287e-07 0.043863 1 0 KMT2C 58508 broad.mit.edu 37 7 151945303 151945303 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:151945303G>C ENST00000355193.2 - 14 2434 c.2216C>G c.(2215-2217)tCt>tGt p.S739C KMT2C_ENST00000262189.6_Missense_Mutation_p.S739C lysine (K)-specific methyltransferase 2C AGTCATTTCAGAGTCCATCAA 0.363000 3 78 0 0 0.009096 0 0 TSPAN3 10099 broad.mit.edu 37 15 77348204 77348204 + Translation_Start_Site SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:77348204A>T ENST00000561277.1 - 0 311 TSPAN3_ENST00000559494.1_Intron|TSPAN3_ENST00000558745.1_De_novo_Start_OutOfFrame|TSPAN3_ENST00000424443.3_Splice_Site_p.F22_splice|TSPAN3_ENST00000267970.4_Splice_Site_p.F86_splice|TSPAN3_ENST00000558394.1_Intron|TSPAN3_ENST00000346495.2_Intron O60637 TSN3_HUMAN tetraspanin 3 integral to membrane p.F86Y(2) kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1) 10 all cancers(203;1.14e-19) GATGATGACAAACTGTAAGAA 0.289000 41 86 0 0 0.030466 0 0 DCST1 149095 broad.mit.edu 37 1 155015885 155015885 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:155015885G>A ENST00000295542.1 + 10 1168 c.1072G>A c.(1072-1074)Gag>Aag p.E358K DCST1_ENST00000392480.1_Missense_Mutation_p.E358K|DCST1_ENST00000368419.2_Missense_Mutation_p.E358K|DCST1_ENST00000423025.2_Missense_Mutation_p.E333K NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 358 integral to membrane zinc ion binding p.E358K(2) breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CGTGAGCACCGAGGTGCGGGA 0.667000 27 109 0 0 0.030593 0 0 DNAI2 64446 broad.mit.edu 37 17 72295931 72295931 + Missense_Mutation SNP T T G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:72295931T>G ENST00000579490.1 + 6 1105 c.970T>G c.(970-972)Tat>Gat p.Y324D DNAI2_ENST00000311014.6_Missense_Mutation_p.Y267D|DNAI2_ENST00000446837.2_Missense_Mutation_p.Y267D|DNAI2_ENST00000307504.5_Missense_Mutation_p.Y124D|DNAI2_ENST00000582036.1_Missense_Mutation_p.Y267D Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 267 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity p.Y267D(2) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 AGACCCTGTGTATGGCACCAT 0.607000 Kartagener syndrome 38 50 0 0 0.027894 0 0 ZNF655 79027 broad.mit.edu 37 7 99171066 99171066 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:99171066C>T ENST00000424881.1 + 4 1660 c.1440C>T c.(1438-1440)ttC>ttT p.F480F ZNF655_ENST00000493277.1_Silent_p.F480F|ZNF655_ENST00000394163.2_Silent_p.F445F|ZNF655_ENST00000252713.4_Silent_p.F445F|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000425063.1_3'UTR NM_001083956.1|NM_001085368.1 NP_001077425.1|NP_001078837.1 Q8N720 ZN655_HUMAN zinc finger protein 655 445 G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding p.F480F(2)|p.F445F(2) NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 16 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) AGGGCAGTTTCAGTCATAGCT 0.408000 41 80 0 0 0.036044 0 0 SLC44A4 80736 broad.mit.edu 37 6 31833121 31833121 + Silent SNP C C T rs142009471 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:31833121C>T ENST00000544672.1 - 17 1799 c.1503G>A c.(1501-1503)gcG>gcA p.A501A SLC44A4_ENST00000229729.6_Silent_p.A577A|SLC44A4_ENST00000375562.4_Silent_p.A535A NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 577 integral to membrane|plasma membrane choline transmembrane transporter activity p.A577A(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) GTAGCATGAACGCATTTTTGG 0.562000 52 269 0 0 0.048971 0 0 PCSK4 54760 broad.mit.edu 37 19 1483662 1483662 + Nonsense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:1483662G>A ENST00000300954.5 - 11 1439 c.1378C>T c.(1378-1380)Cag>Tag p.Q460* NM_017573.3 NP_060043.2 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 460 proteolysis integral to membrane serine-type endopeptidase activity p.Q460*(1) cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)|STAD - Stomach adenocarcinoma(1328;0.18) GGGCGGCTCTGGACCCGGACG 0.697000 9 7 0 0 0.028581 0 0 USP47 55031 broad.mit.edu 37 11 11941942 11941942 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:11941942C>T ENST00000339865.5 + 9 1678 c.915C>T c.(913-915)ttC>ttT p.F305F USP47_ENST00000527733.1_Silent_p.F373F|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Silent_p.F393F NM_017944.3 NP_060414.3 Q96K76 UBP47_HUMAN ubiquitin specific peptidase 47 393 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding p.F305F(2) breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 Epithelial(150;0.000339) TGAAAAGATTCGATTTTGATT 0.358000 16 59 0 0 0.033300 0 0 SRGAP1 57522 broad.mit.edu 37 12 64521497 64521497 + Missense_Mutation SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:64521497T>A ENST00000355086.3 + 20 3057 c.2533T>A c.(2533-2535)Tta>Ata p.L845I SRGAP1_ENST00000357825.3_Missense_Mutation_p.L822I|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L782I NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 845 axon guidance cytosol p.L845I(2) breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) TGACGGCTATTTAGCCAGGTA 0.597000 21 117 0 0 0.055883 0 0 SH2B1 25970 broad.mit.edu 37 16 28878061 28878061 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:28878061G>C ENST00000337120.5 + 1 3937 c.646G>C c.(646-648)Gat>Cat p.D216H SH2B1_ENST00000322610.8_Missense_Mutation_p.D216H|SH2B1_ENST00000359285.5_Missense_Mutation_p.D216H|SH2B1_ENST00000395532.4_Missense_Mutation_p.D216H|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Intron NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 216 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity p.D216H(2) endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 ACTGGTCAGTGATGGAACGTC 0.622000 37 49 0 0 0.021022 0 0 C14orf159 80017 broad.mit.edu 37 14 91691111 91691111 + Silent SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:91691111G>T ENST00000518868.1 + 17 2490 c.1800G>T c.(1798-1800)ctG>ctT p.L600L C14orf159_ENST00000525393.2_Silent_p.L471L|C14orf159_ENST00000523816.1_Silent_p.L595L|C14orf159_ENST00000428926.2_Silent_p.L595L|C14orf159_ENST00000412671.2_Silent_p.L600L|C14orf159_ENST00000523771.1_Silent_p.L595L|C14orf159_ENST00000522322.1_Silent_p.L595L|C14orf159_ENST00000256324.10_Silent_p.L600L|C14orf159_ENST00000521077.2_Silent_p.L560L|C14orf159_ENST00000520328.1_Silent_p.L543L|C14orf159_ENST00000523576.1_3'UTR Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 595 mitochondrion p.L595L(2) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) TGGATGGGCTGCCCTTCCACA 0.572000 39 18 8.16277e-20 1.01483e-19 0.027894 1 0 PLCB3 5331 broad.mit.edu 37 11 64029532 64029532 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:64029532C>T ENST00000540288.1 + 17 2125 c.2022C>T c.(2020-2022)ctC>ctT p.L674L PLCB3_ENST00000279230.6_Silent_p.L674L|PLCB3_ENST00000325234.5_Silent_p.L607L NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 674 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.L674L(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 TTGTTGCGCTCAACTTCCAGA 0.607000 37 88 0 0 0.027894 0 0 ZNF638 27332 broad.mit.edu 37 2 71631126 71631126 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:71631126G>A ENST00000409544.1 + 17 3586 c.2956G>A c.(2956-2958)Gag>Aag p.E986K ZNF638_ENST00000355812.3_Missense_Mutation_p.E986K|ZNF638_ENST00000264447.4_Missense_Mutation_p.E986K NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 986 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding p.E986K(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TATAAAAGATGAGGTAAATCA 0.328000 38 197 0 0 0.027894 0 0 STARD7-AS1 285033 broad.mit.edu 37 2 96906022 96906022 + RNA SNP T T C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:96906022T>C ENST00000446816.1 + 0 564 CCCTTCAGAATACATGGACAA 0.418000 3 27 0 0 0.004672 0 0 MN1 4330 broad.mit.edu 37 22 28193194 28193194 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr22:28193194G>A ENST00000302326.4 - 1 4292 c.3338C>T c.(3337-3339)tCg>tTg p.S1113L NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 1113 binding p.S1113L(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 GTCAGGGGTCGAGGTAGAGTT 0.751000 T ETV6 """AML, meningioma""" 6 10 0 0 0.021553 0 0 ZNF160 90338 broad.mit.edu 37 19 53576594 53576594 + Missense_Mutation SNP A A C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:53576594A>C ENST00000355147.5 - 7 848 c.440T>G c.(439-441)tTc>tGc p.F147C ZNF160_ENST00000599056.1_Intron|ZNF160_ENST00000601421.1_Intron|ZNF160_ENST00000429604.1_Intron|ZNF160_ENST00000418871.1_Intron Q9HCG1 ZN160_HUMAN zinc finger protein 160 0 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) ACAATCTTAGAAGATAGAACC 0.478000 21 56 0 0 0.055883 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227472 56227472 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:56227472G>A ENST00000341744.3 - 4 820 c.501C>T c.(499-501)ctC>ctT p.L167L PMEPA1_ENST00000395814.1_Silent_p.L117L|PMEPA1_ENST00000347215.4_Silent_p.L132L|PMEPA1_ENST00000395816.3_Silent_p.L117L|PMEPA1_ENST00000265626.4_Silent_p.L117L NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 167 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding p.L167L(1) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 CCCGAAGCTGGAGGGTGCAGG 0.642000 14 68 0 0 0.016723 0 0 ZNF160 90338 broad.mit.edu 37 19 53589517 53589517 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:53589517G>T ENST00000429604.1 - 4 428 c.13C>A c.(13-15)Cag>Aag p.Q5K ZNF160_ENST00000599056.1_Missense_Mutation_p.Q5K|ZNF160_ENST00000355147.5_Missense_Mutation_p.Q5K|ZNF160_ENST00000418871.1_Missense_Mutation_p.Q5K NM_001102603.1|NM_198893.2 NP_001096073.1|NP_942596.1 Q9HCG1 ZN160_HUMAN zinc finger protein 160 5 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q5K(2)|p.Q5E(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) CACTTTACCTGAGTAAGGGCC 0.428000 38 84 2.87052e-16 3.40319e-16 0.023175 1 0 VCP 7415 broad.mit.edu 37 9 35059557 35059557 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:35059557G>T ENST00000358901.6 - 14 2832 c.1937C>A c.(1936-1938)cCa>cAa p.P646Q NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 646 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding p.P646Q(2) breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) ATCAGGAAGTGGGATGTAGAT 0.522000 39 46 1.49673e-21 1.88114e-21 0.025465 1 0 FBN2 2201 broad.mit.edu 37 5 127599169 127599169 + Nonsense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:127599169C>A ENST00000508053.1 - 69 9114 c.8140G>T c.(8140-8142)Gag>Tag p.E2714* FBN2_ENST00000262464.4_Nonsense_Mutation_p.E2714* P35556 FBN2_HUMAN fibrillin 2 2714 EGF-like 47; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.E2714*(4) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TAGCCCCCCTCCGTGTTAGAG 0.587000 50 59 6.26901e-30 8.05515e-30 0.048971 1 0 TRAV8-6 28680 broad.mit.edu 37 14 22446767 22446767 + RNA SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:22446767C>G ENST00000390443.3 + 0 69 CATCCAGGCTCCTTAAGGGAA 0.517000 OREG0022573 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 5 0 0 0.010729 0 0 AOX1 316 broad.mit.edu 37 2 201469469 201469469 + Silent SNP A A G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:201469469A>G ENST00000374700.2 + 9 961 c.720A>G c.(718-720)agA>agG p.R240R NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 240 FAD-binding PCMH-type. 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 p.R240R(1) 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) GCAGTGAGAGAATGATGTGGT 0.463000 30 117 0 0 0.041601 0 0 GRSF1 2926 broad.mit.edu 37 4 71701932 71701932 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:71701932G>C ENST00000254799.6 - 2 574 c.457C>G c.(457-459)Cga>Gga p.R153G GRSF1_ENST00000502323.1_5'UTR|GRSF1_ENST00000439371.1_5'UTR|GRSF1_ENST00000508091.1_5'UTR|GRSF1_ENST00000545193.1_Missense_Mutation_p.R35G NM_002092.3 NP_002083.3 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 153 RRM 1. mRNA polyadenylation mRNA binding|nucleotide binding p.R153G(2) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2) 17 all_hematologic(202;0.21) Lung(101;0.235) CCTTGAGCTCGAATGAGAAAG 0.398000 17 137 0 0 0.028581 0 0 ATP6V1A 523 broad.mit.edu 37 3 113505180 113505180 + Silent SNP A A C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:113505180A>C ENST00000273398.3 + 6 774 c.666A>C c.(664-666)ccA>ccC p.P222P ATP6V1A_ENST00000538620.1_Silent_p.P189P NM_001690.3 NP_001681.2 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A 222 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism p.P222P(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AGAAGCTGCCAGCCAATCATC 0.463000 42 223 0 0 0.039052 0 0 RPN2 6185 broad.mit.edu 37 20 35827584 35827584 + Silent SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:35827584C>G ENST00000237530.6 + 4 746 c.435C>G c.(433-435)ctC>ctG p.L145L RPN2_ENST00000373622.5_Silent_p.L113L NM_002951.3 NP_002942.2 P04844 RPN2_HUMAN ribophorin II 145 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding p.L145L(2) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1) 24 Myeloproliferative disorder(115;0.00878) AAGAAGCACTCAGTGCCCTTA 0.527000 47 141 0 0 0.042209 0 0 HHEX 3087 broad.mit.edu 37 10 94452138 94452138 + Silent SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:94452138C>G ENST00000282728.5 + 2 2174 c.375C>G c.(373-375)ctC>ctG p.L125L HHEX_ENST00000492654.2_5'UTR|HHEX_ENST00000472590.2_5'UTR NM_002729.4 NP_002720.1 Q03014 HHEX_HUMAN hematopoietically expressed homeobox 125 Pro-rich. anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway cytoplasm|nucleus|protein-DNA complex DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding p.L125L(2) kidney(2)|large_intestine(2)|lung(5)|ovary(1) 10 AACCTCTACTCTGGAGCCCCT 0.617000 64 84 0 0 0.048971 0 0 GPR152 390212 broad.mit.edu 37 11 67219321 67219321 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:67219321G>T ENST00000312457.2 - 1 879 c.875C>A c.(874-876)cCc>cAc p.P292H NM_206997.1 NP_996880.1 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 292 integral to membrane|plasma membrane G-protein coupled receptor activity p.P292H(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GCAGAGGAAGGGGCTGAGGCA 0.652000 27 88 9.58827e-17 1.14264e-16 0.048971 1 0 FGF9 2254 broad.mit.edu 37 13 22255205 22255205 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:22255205C>A ENST00000382353.5 + 2 832 c.302C>A c.(301-303)gCa>gAa p.A101E NM_002010.2 NP_002001.1 P31371 FGF9_HUMAN fibroblast growth factor 9 101 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division extracellular space growth factor activity|heparin binding p.A101E(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2) 9 all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106) all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163) ATCAGTATAGCAGTGGGCCTG 0.517000 27 22 2.61193e-14 3.06502e-14 0.041601 1 0 SPDYC 387778 broad.mit.edu 37 11 64940248 64940248 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:64940248C>T ENST00000377185.2 + 6 692 c.610C>T c.(610-612)Cgc>Tgc p.R204C NM_001008778.1 NP_001008778.1 Q5MJ68 SPDYC_HUMAN speedy/RINGO cell cycle regulator family member C 204 cell cycle nucleus protein kinase binding p.R204C(1) breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1) 16 GGTCCCTGTTCGCCTTCCCCG 0.652000 54 87 0 0 0.048971 0 0 TEX33 339669 broad.mit.edu 37 22 37387544 37387544 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr22:37387544A>T ENST00000405091.2 - 6 974 c.723T>A c.(721-723)caT>caA p.H241Q TEX33_ENST00000381821.1_Missense_Mutation_p.H241Q|TEX33_ENST00000402860.3_Missense_Mutation_p.H156Q O43247 EAN57_HUMAN testis expressed 33 241 p.H156Q(2) TCTTCCTGCCATGCCAGTGTT 0.542000 120 209 0 0 0.048971 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072821 17072821 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr22:17072821G>T ENST00000359963.3 - 1 879 c.620C>A c.(619-621)gCg>gAg p.A207E NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 207 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.A207G(1)|p.A207V(1)|p.A207E(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CCCGGGCAGCGCGCACACCCC 0.617000 35 149 1.836e-18 2.25818e-18 0.017118 1 0 AQP12B 653437 broad.mit.edu 37 2 241621963 241621963 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:241621963G>T ENST00000407834.3 - 1 354 c.292C>A c.(292-294)Ctg>Atg p.L98M NM_001102467.1 NP_001095937.1 A6NM10 AQ12B_HUMAN aquaporin 12B 86 integral to membrane transporter activity p.L98M(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1) 13 all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) AACTCCTGCAGGGACACGGTG 0.687000 13 74 7.03913e-09 7.67298e-09 0.013537 1 0 FBXO46 23403 broad.mit.edu 37 19 46216187 46216187 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:46216187G>C ENST00000317683.3 - 2 700 c.567C>G c.(565-567)agC>agG p.S189R NM_001080469.1 NP_001073938.1 Q6PJ61 FBX46_HUMAN F-box protein 46 189 protein binding p.S189R(1) breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) GTCGTGGGTAGCTCTGCAGGG 0.697000 5 16 0 0 0.014758 0 0 HRH2 3274 broad.mit.edu 37 5 175111158 175111158 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:175111158G>A ENST00000231683.2 + 1 2695 c.922G>A c.(922-924)Gcc>Acc p.A308T HRH2_ENST00000377291.2_Missense_Mutation_p.A308T NM_022304.2 NP_071640.1 P25021 HRH2_HUMAN histamine receptor H2 308 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) CTGCAGGCTGGCCAACCGCAA 0.582000 4 117 0 0 0.009096 0 0 TRIO 7204 broad.mit.edu 37 5 14291189 14291189 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:14291189C>T ENST00000344204.4 + 5 929 c.905C>T c.(904-906)gCg>gTg p.A302V TRIO_ENST00000537187.1_Missense_Mutation_p.A302V|TRIO_ENST00000509967.2_Missense_Mutation_p.A253V NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 302 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TCAGGCAATGCGGACCTGCAG 0.562000 5 222 0 0 0.014758 0 0 MAN1A2 10905 broad.mit.edu 37 1 117944871 117944871 + Silent SNP A A C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:117944871A>C ENST00000356554.3 + 2 1101 c.366A>C c.(364-366)gcA>gcC p.A122A MAN1A2_ENST00000482811.1_Intron NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 122 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity p.A122A(2) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) TGGAAGAAGCAAAAGAAAAAT 0.373000 10 34 0 0 0.006214 0 0 CDH9 1007 broad.mit.edu 37 5 26881693 26881693 + Missense_Mutation SNP T T C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:26881693T>C ENST00000231021.4 - 12 2094 c.1922A>G c.(1921-1923)aAa>aGa p.K641R NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 641 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.K641R(2) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 AGGTTCCTTTTTTCTTTGCCT 0.388000 16 61 0 0 0.033300 0 0 SLC6A15 55117 broad.mit.edu 37 12 85266387 85266387 + Silent SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:85266387T>A ENST00000266682.5 - 8 1837 c.1296A>T c.(1294-1296)ctA>ctT p.L432L SLC6A15_ENST00000309283.7_Silent_p.L140L|SLC6A15_ENST00000552192.1_Silent_p.L325L NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 432 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.L432L(2) kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 TAACTTTATTTAGCTCTTCTT 0.328000 9 60 0 0 0.047766 0 0 VPRBP 9730 broad.mit.edu 37 3 51440599 51440599 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:51440599C>A ENST00000335891.5 - 16 3105 c.3096G>T c.(3094-3096)gaG>gaT p.E1032D Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 1481 interspecies interaction between organisms cytoplasm|nucleus protein binding p.E1485D(2) breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) TCAGTTCCACCTCCTCATCTG 0.527000 34 26 1.07121e-22 1.35372e-22 0.027894 1 0 UNC13C 440279 broad.mit.edu 37 15 54305729 54305729 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:54305729G>A ENST00000545554.1 + 1 629 c.629G>A c.(628-630)aGa>aAa p.R210K UNC13C_ENST00000537900.1_Missense_Mutation_p.R210K|UNC13C_ENST00000260323.11_Missense_Mutation_p.R210K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 210 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.R210K(4) 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) TGGGGAATAAGAAGTAAGTCT 0.438000 38 151 0 0 0.023175 0 0 NFASC 23114 broad.mit.edu 37 1 204948557 204948557 + Silent SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:204948557C>A ENST00000367172.4 + 19 2374 c.2046C>A c.(2044-2046)ccC>ccA p.P682P NFASC_ENST00000401399.1_Silent_p.P682P|NFASC_ENST00000513543.1_Silent_p.P678P|NFASC_ENST00000339876.6_Silent_p.P682P|NFASC_ENST00000360049.4_Silent_p.P678P|NFASC_ENST00000539706.1_Silent_p.P678P|NFASC_ENST00000338515.6_Silent_p.P682P|NFASC_ENST00000367169.4_Silent_p.P682P|NFASC_ENST00000338586.6_Silent_p.P682P|NFASC_ENST00000404076.1_Silent_p.P661P|NFASC_ENST00000367170.4_Silent_p.P682P|NFASC_ENST00000367171.4_Silent_p.P667P|NFASC_ENST00000404907.1_Silent_p.P678P O94856 NFASC_HUMAN neurofascin 682 Fibronectin type-III 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding p.P678P(3)|p.P682P(3) NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCAAGTACCCCGGCAGCGTTA 0.572000 44 216 5.78141e-17 6.92565e-17 0.045515 1 0 KIAA0430 9665 broad.mit.edu 37 16 15705448 15705448 + Splice_Site SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:15705448C>A ENST00000396368.3 - 18 3824 c.e18+1 KIAA0430_ENST00000551742.1_Splice_Site|KIAA0430_ENST00000548025.1_Splice_Site|KIAA0430_ENST00000602337.1_Splice_Site|KIAA0430_ENST00000540441.2_Splice_Site|KIAA0430_ENST00000344181.3_Splice_Site NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 peroxisome nucleotide binding|RNA binding p.?(2) breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 CATCAACTCACCAGTGATAAG 0.368000 31 52 7.16026e-08 7.76821e-08 0.050027 1 0 MARCO 8685 broad.mit.edu 37 2 119735488 119735488 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:119735488A>T ENST00000541757.1 + 9 889 c.509A>T c.(508-510)gAg>gTg p.E170V MARCO_ENST00000327097.4_Missense_Mutation_p.E248V Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 248 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity p.E248V(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 ACTAAGGGAGAGAAAGGAGAC 0.602000 5 20 0 0 0.014758 0 0 MANF 7873 broad.mit.edu 37 3 51425216 51425216 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:51425216G>A ENST00000528157.1 + 3 567 c.271G>A c.(271-273)Gag>Aag p.E91K MANF_ENST00000470900.1_3'UTR NM_006010.4 NP_006001.3 P55145 MANF_HUMAN mesencephalic astrocyte-derived neurotrophic factor 91 response to unfolded protein extracellular region growth factor activity p.E91K(1)|p.E94K(1) lung(1)|ovary(1) 2 AATCATCAATGAGGTATCAAA 0.483000 11 22 0 0 0.008291 0 0 CHCHD6 84303 broad.mit.edu 37 3 126676372 126676372 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:126676372G>A ENST00000508789.1 + 7 755 c.683G>A c.(682-684)cGc>cAc p.R228H CHCHD6_ENST00000290913.3_Missense_Mutation_p.R227H Q9BRQ6 CHCH6_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 6 227 CHCH. p.R227H(1) endometrium(2)|large_intestine(3)|lung(3) 8 GCATACCAGCGCTGCGTGAGC 0.617000 16 22 0 0 0.028581 0 0 TPTE2 93492 broad.mit.edu 37 13 20056686 20056686 + Splice_Site SNP T T C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:20056686T>C ENST00000400230.2 - 4 165 c.119_splice c.e4-1 p.M41_splice TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 41 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) CGTTCTAACATACTTTAGCCA 0.313000 3 30 0 0 0.009096 0 0 CLCA4 22802 broad.mit.edu 37 1 87045236 87045236 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:87045236G>C ENST00000370563.3 + 13 2364 c.2322G>C c.(2320-2322)tgG>tgC p.W774C RP4-651E10.4_ENST00000456587.1_RNA NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 774 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity p.W774C(2) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) TTCTTACATGGACAGCACCAG 0.408000 47 75 0 0 0.048971 0 0 WDR70 55100 broad.mit.edu 37 5 37727024 37727024 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:37727024C>G ENST00000265107.4 + 17 1910 c.1754C>G c.(1753-1755)tCt>tGt p.S585C NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 585 p.S585C(1) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGCACTCTCTCTTCCTATATT 0.448000 81 183 0 0 0.048971 0 0 MORC1 27136 broad.mit.edu 37 3 108776234 108776234 + Silent SNP G G A rs144305402 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:108776234G>A ENST00000232603.5 - 13 1213 c.1131C>T c.(1129-1131)atC>atT p.I377I MORC1_ENST00000483760.1_Silent_p.I377I NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 377 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding p.I377I(2) breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CATGCATTTTGATCAAACGGT 0.388000 41 69 0 0 0.033182 0 0 FLNA 2316 broad.mit.edu 37 X 153593044 153593044 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chrX:153593044G>A ENST00000422373.1 - 13 2120 c.1872C>T c.(1870-1872)gaC>gaT p.D624D FLNA_ENST00000344736.4_Silent_p.D624D|FLNA_ENST00000360319.4_Silent_p.D624D|FLNA_ENST00000369850.3_Silent_p.D624D NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 624 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding p.D624D(1) breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGCCCTTGTCGTCACATTCGA 0.632000 44 64 0 0 0.048971 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553584 140553584 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:140553584C>T ENST00000231137.3 + 1 1342 c.1168C>T c.(1168-1170)Ccc>Tcc p.P390S NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 390 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P390S(2) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGACGATGTCCCCTTCATCCT 0.473000 44 34 0 0 0.033182 0 0 KIAA1456 57604 broad.mit.edu 37 8 12878691 12878691 + Missense_Mutation SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:12878691T>A ENST00000524591.2 + 5 992 c.503T>A c.(502-504)cTc>cAc p.L168H KIAA1456_ENST00000447063.2_Intron NM_001099677.1|NM_020844.2 NP_001093147.1|NP_065895.2 Q9P272 K1456_HUMAN KIAA1456 168 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 TGTTCCCAGCTCTTCTCAGAG 0.512000 16 52 0 0 0.055883 0 0 VPS33A 65082 broad.mit.edu 37 12 122748723 122748723 + Silent SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:122748723T>A ENST00000267199.4 - 2 238 c.126A>T c.(124-126)ctA>ctT p.L42L VPS33A_ENST00000451053.2_Silent_p.L42L|RP11-512M8.5_ENST00000535844.1_Silent_p.L42L|VPS33A_ENST00000542310.1_5'UTR NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 42 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding p.L42L(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) AGGGTCCAGTTAGGTATTCAT 0.343000 49 208 0 0 0.048971 0 0 TP53 7157 broad.mit.edu 37 17 7578433 7578433 + Nonsense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:7578433G>C ENST00000420246.2 - 5 629 c.497C>G c.(496-498)tCa>tGa p.S166* TP53_ENST00000413465.2_Nonsense_Mutation_p.S166*|TP53_ENST00000455263.2_Nonsense_Mutation_p.S166*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S166*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S166*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S166*|TP53_ENST00000574684.1_5'UTR NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 166 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. S -> A (in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S166*(25)|p.0?(8)|p.S166L(4)|p.Q167fs*14(4)|p.S34*(2)|p.S73*(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CATGTGCTGTGACTGCTTGTA 0.632000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 66 47 0 0 0.048971 0 0 MDGA2 161357 broad.mit.edu 37 14 47566113 47566113 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:47566113A>T ENST00000426342.1 - 6 991 c.245T>A c.(244-246)aTt>aAt p.I82N MDGA2_ENST00000357362.3_Missense_Mutation_p.I82N|MDGA2_ENST00000439988.2_Missense_Mutation_p.I311N|MDGA2_ENST00000399232.2_Missense_Mutation_p.I380N NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 311 Ig-like 1. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 ATTATTGGCAATGCAGCTGTA 0.433000 14 406 0 0 0.020292 0 0 GPC5 2262 broad.mit.edu 37 13 93518680 93518680 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:93518680C>T ENST00000377067.3 + 8 2079 c.1707C>T c.(1705-1707)ccC>ccT p.P569P NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 569 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.P569P(2) NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TGTTACTTCCCGGGATTTGGT 0.433000 24 88 0 0 0.016522 0 0 ADARB1 104 broad.mit.edu 37 21 46641940 46641940 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr21:46641940C>T ENST00000539173.1 + 12 2489 c.2054C>T c.(2053-2055)tCc>tTc p.S685F ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000389863.4_Missense_Mutation_p.S685F|ADARB1_ENST00000348831.4_Missense_Mutation_p.S645F|ADARB1_ENST00000360697.3_Missense_Mutation_p.S685F NM_015833.3 NP_056648.1 P78563 RED1_HUMAN adenosine deaminase, RNA-specific, B1 685 A to I editase. adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding p.S685F(2) endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1) 17 Colorectal(79;0.115) CAGGTTCCCTCCCACTTACTA 0.488000 33 29 0 0 0.050027 0 0 ZNF283 284349 broad.mit.edu 37 19 44351558 44351558 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:44351558G>C ENST00000324461.7 + 7 1102 c.805G>C c.(805-807)Ggg>Cgg p.G269R ZNF283_ENST00000588797.1_Missense_Mutation_p.G130R NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 269 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G269R(1) endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) TAAGGAATGTGGGAAGACCTT 0.403000 8 65 0 0 0.038147 0 0 FBXW8 26259 broad.mit.edu 37 12 117426577 117426577 + Missense_Mutation SNP T T G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:117426577T>G ENST00000455858.2 + 7 1017 c.944T>G c.(943-945)cTt>cGt p.L315R FBXW8_ENST00000309909.5_Missense_Mutation_p.L381R NM_012174.1|NM_153348.2 NP_036306.1|NP_699179.2 Q8N3Y1 FBXW8_HUMAN F-box and WD repeat domain containing 8 381 protein binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 22 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) AGAACCCTCCTTTACGCCCAC 0.547000 8 403 0 0 0.038147 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101631628 101631628 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:101631628G>A ENST00000310954.6 - 1 625 c.339C>T c.(337-339)ctC>ctT p.L113L NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 113 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity p.L113L(2) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TGACGGCCAAGAGGCAGTAGT 0.632000 39 34 0 0 0.033182 0 0 SKOR1 390598 broad.mit.edu 37 15 68119495 68119495 + Silent SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:68119495C>G ENST00000380035.2 + 2 1387 c.1329C>G c.(1327-1329)gcC>gcG p.A443A SKOR1_ENST00000389002.1_Silent_p.A399A|SKOR1_ENST00000554054.1_Silent_p.A415A|SKOR1_ENST00000341418.5_Intron|SKOR1_ENST00000554240.1_Silent_p.A404A P84550 SKOR1_HUMAN SKI family transcriptional corepressor 1 443 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity p.A443A(1)|p.A399A(1) endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 gcccgggagccagccacttgc 0.786000 2 1 0 0 0.004672 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142539807 142539807 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:142539807C>T ENST00000295992.3 - 8 1336 c.1030G>A c.(1030-1032)Gag>Aag p.E344K PCOLCE2_ENST00000485766.1_Missense_Mutation_p.R264K NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 344 NTR. extracellular region collagen binding|heparin binding|peptidase activator activity p.E344K(1) NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 AAATTTCCCTCTTTGTAGATG 0.507000 30 76 0 0 0.034045 0 0 LUZP2 338645 broad.mit.edu 37 11 25004819 25004819 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:25004819G>T ENST00000533227.1 + 9 774 c.487G>T c.(487-489)Gat>Tat p.D163Y LUZP2_ENST00000336930.6_Missense_Mutation_p.D249Y NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 249 extracellular region p.D249Y(2) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 TAAGCTTCCAGATGCAGCGGC 0.428000 14 77 8.60227e-14 9.8434e-14 0.028581 1 0 SLITRK5 26050 broad.mit.edu 37 13 88328774 88328774 + Silent SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:88328774G>T ENST00000325089.6 + 2 1350 c.1131G>T c.(1129-1131)gcG>gcT p.A377A SLITRK5_ENST00000400028.3_Silent_p.A136A NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 377 LRRNT. integral to membrane p.A377A(2) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GTCCCACCGCGTGCTCTTGCA 0.577000 60 84 5.47352e-35 7.07253e-35 0.048971 1 0 RIN3 79890 broad.mit.edu 37 14 93118640 93118640 + Nonsense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:93118640C>T ENST00000216487.7 + 6 1405 c.1246C>T c.(1246-1248)Caa>Taa p.Q416* RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 416 Pro-rich. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding p.Q416*(1) endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) CCTGCCTCCCCAAGGGACCTC 0.657000 23 69 0 0 0.021523 0 0 EGFLAM 133584 broad.mit.edu 37 5 38406296 38406296 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:38406296G>A ENST00000322350.5 + 7 1127 c.781G>A c.(781-783)Gat>Aat p.D261N EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Missense_Mutation_p.D261N|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D27N NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 261 cell junction|proteinaceous extracellular matrix|synapse p.D261N(4) NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TGGTGAGGATGATGAAGGATT 0.473000 36 55 0 0 0.015359 0 0 BAZ2A 11176 broad.mit.edu 37 12 56999683 56999683 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:56999683C>T ENST00000179765.5 - 14 2533 c.2334G>A c.(2332-2334)cgG>cgA p.R778R BAZ2A_ENST00000549884.1_Silent_p.R808R|BAZ2A_ENST00000551812.1_Silent_p.R810R|BAZ2A_ENST00000379441.3_Silent_p.R780R Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 810 Lys-rich. chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding p.R810R(4)|p.R846R(2) breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 GCTGCCTCTGCCGTTCCTCCA 0.517000 8 14 0 0 0.006214 0 0 IFNL3 282617 broad.mit.edu 37 19 39734751 39734751 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:39734751A>G ENST00000413851.2 - 3 343 c.305T>C c.(304-306)cTg>cCg p.L102P NM_172139.2 NP_742151.2 interferon, lambda 3 p.L102P(1) CAGAACCTTCAGCGTCAGGGC 0.652000 30 79 0 0 0.054565 0 0 LDHC 3948 broad.mit.edu 37 11 18456297 18456297 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:18456297G>C ENST00000541669.1 + 5 540 c.429G>C c.(427-429)ttG>ttC p.L143F LDHC_ENST00000546146.1_Missense_Mutation_p.L85F|LDHC_ENST00000535809.1_Missense_Mutation_p.L143F|LDHC_ENST00000544105.1_Missense_Mutation_p.L143F|LDHC_ENST00000280704.4_Missense_Mutation_p.L143F|LDHC_ENST00000536880.1_Missense_Mutation_p.L129F|LDHC_ENST00000537486.1_Intron P07864 LDHC_HUMAN lactate dehydrogenase C 143 glycolysis cytoplasm binding|L-lactate dehydrogenase activity p.L143F(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 NADH(DB00157) TGGATATTTTGACATATATAG 0.308000 28 152 0 0 0.050027 0 0 CCDC158 339965 broad.mit.edu 37 4 77247123 77247123 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:77247123G>C ENST00000388914.3 - 22 3196 c.3044C>G c.(3043-3045)tCt>tGt p.S1015C NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 1015 Ser-rich. p.S1015C(2) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 CTTCTTAGGAGAAGAATTGAA 0.358000 65 214 0 0 0.048971 0 0 NFXL1 152518 broad.mit.edu 37 4 47892633 47892633 + Silent SNP T T G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:47892633T>G ENST00000507489.1 - 12 1716 c.1540A>C c.(1540-1542)Aga>Cga p.R514R NFXL1_ENST00000329043.3_Silent_p.R514R|NFXL1_ENST00000381538.3_Silent_p.R514R NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 514 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding p.R514R(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 AGTTTACCTCTGTGACAGACA 0.348000 11 40 0 0 0.010729 0 0 ZNF70 7621 broad.mit.edu 37 22 24087099 24087099 + Nonsense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr22:24087099G>A ENST00000341976.3 - 2 689 c.229C>T c.(229-231)Caa>Taa p.Q77* NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 77 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q77*(2) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 GGGATACTTTGATGCTGAACA 0.488000 55 204 0 0 0.048971 0 0 VSTM1 284415 broad.mit.edu 37 19 54545619 54545619 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:54545619G>A ENST00000338372.2 - 5 574 c.399C>T c.(397-399)acC>acT p.T133T VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Intron|VSTM1_ENST00000366170.2_Silent_p.T45T NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 133 integral to membrane p.T133T(2) breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) AGATGGTTCTGGTGTCTGGAG 0.537000 16 47 0 0 0.033300 0 0 SLC27A1 376497 broad.mit.edu 37 19 17612097 17612097 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:17612097C>A ENST00000252595.7 + 11 1749 c.1652C>A c.(1651-1653)gCa>gAa p.A551E SLC27A1_ENST00000598848.1_Intron|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.A551E|SLC27A1_ENST00000598424.1_Missense_Mutation_p.A372E NM_198580.1 NP_940982.1 Q6PCB7 S27A1_HUMAN solute carrier family 27 (fatty acid transporter), member 1 551 cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding p.A551E(4) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 GAGGGTAAGGCAGGGATGGCG 0.642000 40 18 1.76056e-25 2.23717e-25 0.042209 1 0 GADL1 339896 broad.mit.edu 37 3 30769763 30769763 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:30769763C>T ENST00000282538.5 - 15 1687 c.1537G>A c.(1537-1539)Gag>Aag p.E513K GADL1_ENST00000498387.1_5'UTR NM_207359.2 NP_997242.2 Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 513 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding p.E513K(2)|p.E329K(2) breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) AAGTCTATCTCATCCAGGAGG 0.537000 58 152 0 0 0.048971 0 0 CCDC39 339829 broad.mit.edu 37 3 180372586 180372586 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:180372586C>A ENST00000273654.4 - 13 1765 c.1146G>T c.(1144-1146)caG>caT p.Q382H CCDC39_ENST00000442201.2_Missense_Mutation_p.Q298H Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 298 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton p.Q298H(2)|p.Q382H(2) NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTTCATGGTCCTGATATGCCG 0.343000 5 9 0.014758 0.0152898 0.014758 1 0 ITPRIPL2 162073 broad.mit.edu 37 16 19126881 19126881 + Silent SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:19126881A>T ENST00000381440.3 + 1 1628 c.1098A>T c.(1096-1098)gcA>gcT p.A366A CTD-2349B8.1_ENST00000564808.2_Intron NM_001034841.3 NP_001030013.1 Q3MIP1 IPIL2_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 2 366 integral to membrane p.A366A(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 AGGAACGGGCAGCTCCAGGTG 0.667000 30 112 0 0 0.041601 0 0 COL11A1 1301 broad.mit.edu 37 1 103364245 103364245 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:103364245G>A ENST00000358392.2 - 56 4578 c.4261C>T c.(4261-4263)Ctt>Ttt p.L1421F COL11A1_ENST00000370096.3_Missense_Mutation_p.L1409F|COL11A1_ENST00000353414.4_Missense_Mutation_p.L1370F|COL11A1_ENST00000512756.1_Missense_Mutation_p.L1293F NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1409 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.L1409F(2)|p.L1421F(2) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ATGCCCCGAAGACCTTCTGGA 0.453000 43 69 0 0 0.048971 0 0 GOLM1 51280 broad.mit.edu 37 9 88661457 88661457 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:88661457C>G ENST00000388712.3 - 5 563 c.395G>C c.(394-396)gGc>gCc p.G132A GOLM1_ENST00000388711.3_Missense_Mutation_p.G132A|GOLM1_ENST00000257504.6_5'UTR NM_016548.3 NP_057632.2 Q8NBJ4 GOLM1_HUMAN golgi membrane protein 1 132 Golgi apparatus|integral to plasma membrane p.G132A(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 CTGCAGCCTGCCGTAATTCCT 0.532000 13 10 0 0 0.016723 0 0 ITPR3 3710 broad.mit.edu 37 6 33632679 33632679 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:33632679C>A ENST00000374316.5 + 13 2241 c.1181C>A c.(1180-1182)aCc>aAc p.T394N ITPR3_ENST00000605930.1_Missense_Mutation_p.T394N Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 394 MIR 5. activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding p.T394N(4) NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 CACCTCTGCACCAACACGTGG 0.662000 24 48 2.48779e-11 2.77764e-11 0.027356 1 0 GALNT11 63917 broad.mit.edu 37 7 151818708 151818708 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:151818708C>T ENST00000434507.1 + 14 2210 c.1773C>T c.(1771-1773)gtC>gtT p.V591V GALNT11_ENST00000452146.2_Silent_p.V510V|GALNT11_ENST00000430044.2_Silent_p.V591V|GALNT11_ENST00000320311.2_Silent_p.V591V|RP5-981O7.2_ENST00000424630.1_RNA Q8NCW6 GLT11_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 591 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.V591V(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) AGGGCTCTGTCGCCATGGCGA 0.532000 27 72 0 0 0.034045 0 0 UBE2J1 51465 broad.mit.edu 37 6 90062268 90062268 + Silent SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:90062268C>A ENST00000435041.2 - 1 299 c.21G>T c.(19-21)ctG>ctT p.L7L NM_016021.2 NP_057105.2 Q9Y385 UB2J1_HUMAN ubiquitin-conjugating enzyme E2, J1 7 endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity p.L7L(1) NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1) 18 all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0139) CCGGACTCTTCAGGTTGTAGC 0.756000 15 7 4.7546e-09 5.20742e-09 0.028581 1 0 LZTS1 11178 broad.mit.edu 37 8 20112537 20112537 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:20112537G>A ENST00000381569.1 - 2 513 c.156C>T c.(154-156)caC>caT p.H52H LZTS1_ENST00000265801.6_Silent_p.H52H|LZTS1_ENST00000522290.1_Silent_p.H52H Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 52 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.H52H(2) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) TGGACTTGCCGTGACCGGAGT 0.577000 71 69 0 0 0.048971 0 0 OR56A3 390083 broad.mit.edu 37 11 5969183 5969183 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:5969183C>A ENST00000329564.6 + 1 614 c.607C>A c.(607-609)Caa>Aaa p.Q203K NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q203K(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCACCTTTACCAATTTGCTGG 0.478000 31 210 4.74835e-14 5.46061e-14 0.045705 1 0 MSH2 4436 broad.mit.edu 37 2 47709956 47709956 + Silent SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:47709956G>C ENST00000233146.2 + 16 2896 c.2673G>C c.(2671-2673)gtG>gtC p.V891V MSH2_ENST00000543555.1_Silent_p.V825V|MSH2_ENST00000461394.1_Intron|MSH2_ENST00000406134.1_Intron NM_000251.2 NP_000242.1 P43246 MSH2_HUMAN mutS homolog 2 891 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.V891V(2)|p.0?(2)|p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TGTCCAAGGTGAAACAAATGC 0.313000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 11 42 0 0 0.010729 0 0 NLGN4X 57502 broad.mit.edu 37 X 5827176 5827176 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chrX:5827176C>A ENST00000381095.3 - 4 1357 c.730G>T c.(730-732)Gac>Tac p.D244Y NLGN4X_ENST00000538097.1_Missense_Mutation_p.D244Y|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D244Y|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D244Y|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D264Y NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 244 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.D244F(1)|p.D244Y(1) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 CTCTTGGGGTCCCCGCCAAAG 0.567000 17 49 3.99206e-14 4.63724e-14 0.043863 1 0 PCDHB4 56131 broad.mit.edu 37 5 140503320 140503320 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:140503320G>A ENST00000194152.1 + 1 1740 c.1740G>A c.(1738-1740)gaG>gaA p.E580E NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 580 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.E580E(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGCGGCCGAGCCGGGCTACC 0.697000 38 29 0 0 0.048971 0 0 ID3 3399 broad.mit.edu 37 1 23885762 23885762 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:23885762C>T ENST00000374561.5 - 1 523 c.156G>A c.(154-156)cgG>cgA p.R52R ID3_ENST00000486541.1_5'UTR NM_002167.4 NP_002158.3 Q02535 ID3_HUMAN inhibitor of DNA binding 3, dominant negative helix-loop-helix protein 52 Helix-loop-helix motif. negative regulation of sequence-specific DNA binding transcription factor activity transcription corepressor activity p.R52R(2) central_nervous_system(1)|lung(3) 4 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) GTACCAGTTCCCGCAGGCGGG 0.642000 32 144 0 0 0.019004 0 0 KPRP 448834 broad.mit.edu 37 1 152733114 152733114 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:152733114C>G ENST00000368773.1 + 2 1108 c.1050C>G c.(1048-1050)atC>atG p.I350M KPRP_ENST00000606109.1_Missense_Mutation_p.I350M NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 350 Pro-rich. cytoplasm p.I350M(2) NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCTCCCATCAGACGCCGCT 0.652000 35 100 0 0 0.021022 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79066595 79066595 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:79066595C>T ENST00000388820.4 - 13 2134 c.1924G>A c.(1924-1926)Gag>Aag p.E642K ADAMTS7_ENST00000566303.1_Intron NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 642 Cys-rich. E -> K (in Ref. 1; AAD56358). proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CGCAGCTTCTCGGCAAAGTAC 0.627000 3 20 0 0 0.009096 0 0 CES1P1 51716 broad.mit.edu 37 16 55806422 55806422 + RNA SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:55806422T>A ENST00000571348.1 + 0 724 NR_003276.2 GAGGAGAAAGTGTCTCTGTTC 0.557000 6 25 0 0 0.029380 0 0 PIGM 93183 broad.mit.edu 37 1 160001137 160001137 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:160001137C>G ENST00000368090.2 - 1 646 c.393G>C c.(391-393)tgG>tgC p.W131C NM_145167.2 NP_660150.1 Q9H3S5 PIGM_HUMAN phosphatidylinositol glycan anchor biosynthesis, class M 131 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane p.W131C(2) kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGTTAAGAAGCCAAAAGACAC 0.562000 12 22 0 0 0.028581 0 0 TSSK3 81629 broad.mit.edu 37 1 32829545 32829545 + Silent SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:32829545G>C ENST00000373534.3 + 2 1000 c.495G>C c.(493-495)ctG>ctC p.L165L FAM229A_ENST00000415596.1_Intron NM_052841.3 NP_443073.1 Q96PN8 TSSK3_HUMAN testis-specific serine kinase 3 165 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.L165L(2) NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212) ACCGGGAGCTGAGCCAGACCT 0.572000 54 102 0 0 0.048971 0 0 VPS51 738 broad.mit.edu 37 11 64875899 64875899 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:64875899C>T ENST00000279281.3 + 5 1048 c.956C>T c.(955-957)gCg>gTg p.A319V VPS51_ENST00000527646.1_3'UTR NM_013265.2 NP_037397.2 vacuolar protein sorting 51 homolog (S. cerevisiae) TGCCAGGTGGCGGCGGCCTAC 0.697000 3 46 0 0 0.009096 0 0 HSDL2 84263 broad.mit.edu 37 9 115171264 115171264 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:115171264C>G ENST00000398805.3 + 4 585 c.358C>G c.(358-360)Ctg>Gtg p.L120V HSDL2_ENST00000539114.1_5'UTR|HSDL2_ENST00000398803.1_Intron|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000262542.7_5'UTR NM_032303.4 NP_115679.2 Q6YN16 HSDL2_HUMAN hydroxysteroid dehydrogenase like 2 120 peroxisome oxidoreductase activity|sterol binding p.L120V(1) NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 13 GAGATTGGATCTGATGATGAA 0.408000 28 67 0 0 0.054565 0 0 URB2 9816 broad.mit.edu 37 1 229794951 229794951 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:229794951G>A ENST00000258243.2 + 10 4618 c.4482G>A c.(4480-4482)caG>caA p.Q1494Q NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1494 nucleolus p.P1495S(1) 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 CCTCGCTGCAGCCGGGAATGA 0.502000 6 332 0 0 0.021553 0 0 SAP30BP 29115 broad.mit.edu 37 17 73689542 73689542 + Missense_Mutation SNP G G C rs150596591 byFrequency TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:73689542G>C ENST00000584667.1 + 4 544 c.287G>C c.(286-288)cGa>cCa p.R96P SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.R80P NM_013260.6 NP_037392.1 Q9UHR5 S30BP_HUMAN SAP30 binding protein 96 apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.R96P(2) kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1) 17 all_cancers(13;6.42e-08) all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GCAGAAAAGCGAGACCCCCAG 0.552000 17 73 0 0 0.049695 0 0 INTS2 57508 broad.mit.edu 37 17 59988888 59988888 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:59988888C>G ENST00000444766.3 - 7 1046 c.971G>C c.(970-972)gGa>gCa p.G324A INTS2_ENST00000251334.6_Missense_Mutation_p.G316A NM_020748.2 NP_065799.1 Q9H0H0 INT2_HUMAN integrator complex subunit 2 324 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding p.G324A(2) NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 CACCTGCTGTCCATTTCGGAT 0.388000 26 30 0 0 0.024334 0 0 OSER1 51526 broad.mit.edu 37 20 42831602 42831602 + Splice_Site SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:42831602C>A ENST00000372970.2 - 5 370 c.191_splice c.e5+1 p.G64_splice OSER1_ENST00000255174.2_Splice_Site_p.G64_splice oxidative stress responsive serine-rich 1 p.G64W(2) AGCTCTTACCCGTGCCAACTG 0.383000 19 71 1.45105e-14 1.7115e-14 0.038395 1 0 NOXA1 10811 broad.mit.edu 37 9 140327948 140327948 + Missense_Mutation SNP T T C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:140327948T>C ENST00000341349.2 + 11 1133 c.953T>C c.(952-954)gTg>gCg p.V318A NOXA1_ENST00000392815.2_Missense_Mutation_p.V262A NM_001256067.1|NM_006647.1 NP_001242996.1|NP_006638.1 Q86UR1 NOXA1_HUMAN NADPH oxidase activator 1 318 OPR. Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate). regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process cytoplasm|NADPH oxidase complex Rac GTPase binding|superoxide-generating NADPH oxidase activator activity p.V318A(1) cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1) 9 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982) ACTGTCACCGTGCAGTGCGCC 0.711000 5 7 0 0 0.014758 0 0 LRCH4 4034 broad.mit.edu 37 7 100179736 100179736 + Silent SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:100179736G>T ENST00000310300.6 - 3 472 c.420C>A c.(418-420)gtC>gtA p.V140V LRCH4_ENST00000497245.1_5'UTR NM_002319.3 NP_002310.2 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 140 nervous system development PML body protein binding p.V140V(2) NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGACGATGAGGACCCTCAGGG 0.637000 27 61 5.77227e-19 7.13775e-19 0.037714 1 0 FAM184A 79632 broad.mit.edu 37 6 119345909 119345909 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:119345909C>T ENST00000338891.7 - 2 672 c.229G>A c.(229-231)Gaa>Aaa p.E77K FAM184A_ENST00000352896.5_5'UTR|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_5'UTR|FAM184A_ENST00000521531.1_Missense_Mutation_p.E77K|FAM184A_ENST00000368475.4_5'UTR NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 77 p.E77K(2) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 ATTTCTTCTTCATGAGCATCT 0.338000 33 21 0 0 0.045705 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356290 37356290 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:37356290C>A ENST00000217420.1 + 2 849 c.586C>A c.(586-588)Ccg>Acg p.P196T NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 196 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity p.P196T(1) breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CTGCTGCGCCCCGCGCTTCCC 0.632000 28 67 3.99451e-17 4.81014e-17 0.041601 1 0 TNMD 64102 broad.mit.edu 37 X 99854065 99854065 + Silent SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chrX:99854065C>G ENST00000373031.4 + 6 847 c.630C>G c.(628-630)gcC>gcG p.A210A NM_022144.2 NP_071427.2 Q9H2S6 TNMD_HUMAN tenomodulin 210 integral to membrane p.A210A(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1) 16 ACTTTCCTGCCAACGAAAAAA 0.423000 16 5 0 0 0.028581 0 0 GOLGA1 2800 broad.mit.edu 37 9 127693657 127693657 + Missense_Mutation SNP T T C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:127693657T>C ENST00000373555.4 - 4 497 c.164A>G c.(163-165)gAt>gGt p.D55G NM_002077.3 NP_002068.1 Q92805 GOGA1_HUMAN golgin A1 55 Golgi cisterna membrane p.D55G(2) NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 GGATGAAAGATCTTCTCTGGA 0.433000 39 22 0 0 0.030466 0 0 KCNK18 338567 broad.mit.edu 37 10 118969302 118969302 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:118969302C>A ENST00000334549.1 + 3 647 c.647C>A c.(646-648)aCa>aAa p.T216K NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 216 integral to membrane|plasma membrane p.T216K(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) AAACTTGGCACATGTCCTTCA 0.527000 48 130 3.16986e-14 3.70086e-14 0.048971 1 0 URB2 9816 broad.mit.edu 37 1 229794952 229794952 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:229794952C>T ENST00000258243.2 + 10 4619 c.4483C>T c.(4483-4485)Ccg>Tcg p.P1495S NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1495 nucleolus p.P1495S(1) 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 CTCGCTGCAGCCGGGAATGAG 0.502000 6 334 0 0 0.021553 0 0 RPP25 54913 broad.mit.edu 37 15 75248342 75248342 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:75248342C>T ENST00000322177.5 - 1 1463 c.583G>A c.(583-585)Gag>Aag p.E195K RPP25_ENST00000499788.2_Missense_Mutation_p.E195K NM_017793.2 NP_060263.2 Q9BUL9 RPP25_HUMAN ribonuclease P/MRP 25kDa subunit 195 tRNA processing nucleus protein binding|ribonuclease P activity|RNA binding p.E195K(1) breast(1)|lung(1) 2 GTCTGATCCTCGTCCGCAACC 0.662000 9 50 0 0 0.006214 0 0 DLX1 1745 broad.mit.edu 37 2 172952956 172952956 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:172952956G>C ENST00000361725.4 + 3 1191 c.739G>C c.(739-741)Gaa>Caa p.E247Q DLX1_ENST00000550686.1_3'UTR|DLX1_ENST00000341900.6_3'UTR NM_178120.4 NP_835221.2 P56177 DLX1_HUMAN distal-less homeobox 1 247 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|lung(4)|prostate(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.216) AGCGCACCAAGAAGCTATGCA 0.617000 7 342 0 0 0.047766 0 0 ZMYM2 7750 broad.mit.edu 37 13 20608525 20608525 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:20608525G>C ENST00000382869.3 + 11 2351 c.2100G>C c.(2098-2100)aaG>aaC p.K700N ZMYM2_ENST00000382870.2_Missense_Mutation_p.K80N|ZMYM2_ENST00000382883.3_Missense_Mutation_p.K182N|ZMYM2_ENST00000382871.2_Missense_Mutation_p.K700N|ZMYM2_ENST00000382874.2_Missense_Mutation_p.K700N NM_001190965.1|NM_003453.3|NM_197968.2 NP_001177894.1|NP_003444.1|NP_932072.1 Q9UBW7 ZMYM2_HUMAN zinc finger, MYM-type 2 700 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding p.K700N(4) large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) CTGGCGTTAAGAGACCTTTCT 0.343000 34 84 0 0 0.019004 0 0 OR4C11 219429 broad.mit.edu 37 11 55371624 55371624 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:55371624C>A ENST00000302231.4 - 1 250 c.226G>T c.(226-228)Gcc>Tcc p.A76S NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A76S(2) endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 AATCTAGGGGCTGTGGAAGTT 0.398000 36 20 6.90743e-12 7.7498e-12 0.017118 1 0 PCDHB1 29930 broad.mit.edu 37 5 140431299 140431299 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:140431299G>C ENST00000306549.3 + 1 321 c.244G>C c.(244-246)Gga>Cga p.G82R NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 82 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G82R(2) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGCAAGACGGGAGATTTGTT 0.572000 22 61 0 0 0.014323 0 0 JADE3 9767 broad.mit.edu 37 X 46913983 46913983 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chrX:46913983C>T ENST00000218343.4 + 9 1694 c.1396C>T c.(1396-1398)Cac>Tac p.H466Y PHF16_ENST00000397189.1_Missense_Mutation_p.H466Y NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 466 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding p.H466Y(2) NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 GGAAAGCATTCACACTCGAAT 0.453000 18 16 0 0 0.033300 0 0 FMO3 2328 broad.mit.edu 37 1 171083381 171083381 + Missense_Mutation SNP A A C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:171083381A>C ENST00000367755.4 + 7 1173 c.1062A>C c.(1060-1062)aaA>aaC p.K354N FMO3_ENST00000392085.2_Missense_Mutation_p.K354N|FMO3_ENST00000542847.1_Missense_Mutation_p.K334N|FMO3_ENST00000538429.1_Missense_Mutation_p.K291N NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 354 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity p.K354N(2) endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTTTATTTAAAGGAGTATTTC 0.443000 25 81 0 0 0.021523 0 0 TRPC3 7222 broad.mit.edu 37 4 122828657 122828657 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:122828657C>A ENST00000264811.5 - 6 2057 c.1639G>T c.(1639-1641)Gtg>Ttg p.V547L TRPC3_ENST00000513531.1_Missense_Mutation_p.V492L|TRPC3_ENST00000379645.3_Missense_Mutation_p.V620L NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 535 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity p.V547L(2) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 AAGCTGAGCACAACAGCTATG 0.443000 39 43 3.61848e-18 4.40344e-18 0.030466 1 0 MYCBP2 23077 broad.mit.edu 37 13 77847609 77847609 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:77847609G>C ENST00000407578.2 - 5 1209 c.943C>G c.(943-945)Cag>Gag p.Q315E MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.Q277E|MYCBP2_ENST00000544440.2_Missense_Mutation_p.Q277E NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 277 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding p.Q277E(4)|p.Q315E(2) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TGAAATACCTGAATAGTTTGG 0.398000 14 45 0 0 0.033300 0 0 FSIP2 401024 broad.mit.edu 37 2 186678562 186678562 + Silent SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:186678562G>C ENST00000343098.5 + 18 20385 c.20385G>C c.(20383-20385)acG>acC p.T6795T FSIP2_ENST00000424728.1_Silent_p.T6706T NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 p.T1404T(4) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CACTAAGCACGAGCAGCCTGA 0.358000 33 13 0 0 0.054565 0 0 OCA2 4948 broad.mit.edu 37 15 28211923 28211923 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:28211923A>T ENST00000354638.3 - 15 1704 c.1549T>A c.(1549-1551)Tgc>Agc p.C517S OCA2_ENST00000353809.5_Missense_Mutation_p.C493S|OCA2_ENST00000382996.2_Missense_Mutation_p.C517S NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 517 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding p.C517S(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AGAACAAGGCAAATCCCAATG 0.493000 Oculocutaneous Albinism 20 47 0 0 0.012319 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626979 108626979 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:108626979G>A ENST00000264047.2 + 9 1681 c.1405G>A c.(1405-1407)Gat>Aat p.D469N SLC5A7_ENST00000409059.1_Missense_Mutation_p.D469N|SLC5A7_ENST00000540517.1_Missense_Mutation_p.D364N NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 469 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity p.D469N(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TTACCCTGATGATAATGGTAT 0.398000 16 114 0 0 0.028581 0 0 CAPN3 825 broad.mit.edu 37 15 42702827 42702827 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:42702827C>G ENST00000397163.3 + 21 2445 c.2226C>G c.(2224-2226)atC>atG p.I742M CAPN3_ENST00000318023.7_Missense_Mutation_p.I736M|CAPN3_ENST00000569136.1_Missense_Mutation_p.I77M|CAPN3_ENST00000397200.4_Missense_Mutation_p.I230M|CAPN3_ENST00000397204.4_Missense_Mutation_p.I77M|CAPN3_ENST00000357568.3_Missense_Mutation_p.I736M|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000561817.1_Missense_Mutation_p.I77M|CAPN3_ENST00000356316.3_Missense_Mutation_p.I649M|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.I650M|CAPN3_ENST00000337571.4_Missense_Mutation_p.I77M NM_000070.2 NP_000061.1 P20807 CAN3_HUMAN calpain 3, (p94) 742 Domain IV.|EF-hand 3. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity p.I649M(2)|p.I736M(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) CCGGCACCATCAACAGCTACG 0.512000 15 30 0 0 0.020292 0 0 KRT74 121391 broad.mit.edu 37 12 52967174 52967174 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:52967174C>T ENST00000549343.1 - 1 426 c.388G>A c.(388-390)Gac>Aac p.D130N KRT74_ENST00000305620.2_Missense_Mutation_p.D130N Q7RTS7 K2C74_HUMAN keratin 74 130 Head. keratin filament structural molecule activity p.D130N(2) kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) ATCTCAGGGTCCAGCTCCACG 0.602000 39 230 0 0 0.039052 0 0 SRSF11 9295 broad.mit.edu 37 1 70687463 70687463 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:70687463G>C ENST00000370950.3 + 2 226 c.144G>C c.(142-144)caG>caC p.Q48H SRSF11_ENST00000405432.1_Missense_Mutation_p.Q48H|SRSF11_ENST00000370951.1_Missense_Mutation_p.Q48H|SRSF11_ENST00000436161.2_Missense_Mutation_p.Q48H|SRSF11_ENST00000454435.2_Missense_Mutation_p.Q48H Q05519 SRS11_HUMAN serine/arginine-rich splicing factor 11 48 RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding p.Q48H(2) large_intestine(3)|ovary(2)|skin(1) 6 GCTCTGAGCAGATGCGGACTC 0.647000 101 109 0 0 0.048971 0 0 TNN 63923 broad.mit.edu 37 1 175049473 175049473 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:175049473G>T ENST00000239462.4 + 4 1072 c.959G>T c.(958-960)gGt>gTt p.G320V NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 320 Fibronectin type-III 1. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix p.G320V(2) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GAGATTCTTGGTTTGCTGCCT 0.537000 39 136 2.40579e-17 2.91227e-17 0.025465 1 0 FAM47B 170062 broad.mit.edu 37 X 34962140 34962140 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chrX:34962140C>T ENST00000329357.5 + 1 1228 c.1192C>T c.(1192-1194)Cgc>Tgc p.R398C NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 398 p.R398C(2) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 GCCCCATCTCCGCCTGGTGCT 0.582000 47 18 0 0 0.048971 0 0 MROH7 374977 broad.mit.edu 37 1 55175634 55175634 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:55175634G>A ENST00000421030.2 + 24 4031 c.3746G>A c.(3745-3747)aGa>aAa p.R1249K MROH7_ENST00000454855.2_Missense_Mutation_p.R767K|MROH7_ENST00000409996.1_Missense_Mutation_p.R817K|MROH7_ENST00000414150.2_Intron NM_001039464.2 NP_001034553.2 maestro heat-like repeat family member 7 p.R1246K(2)|p.R1249K(2) GATAACTTGAGACATGACCCA 0.572000 25 116 0 0 0.030593 0 0 ZNF208 7757 broad.mit.edu 37 19 22154332 22154332 + Silent SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:22154332G>T ENST00000397126.4 - 4 3652 c.3504C>A c.(3502-3504)ccC>ccA p.P1168P ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.P1040P(4)|p.P1168P(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CACATTTGTAGGGTTTCTCTA 0.363000 20 16 3.51602e-12 3.96414e-12 0.049695 1 0 ZNF852 285346 broad.mit.edu 37 3 44541963 44541963 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:44541963G>A ENST00000436261.1 - 4 466 c.306C>T c.(304-306)ccC>ccT p.P102P ZNF852_ENST00000489411.1_5'UTR B6EU87 B6EU87_HUMAN zinc finger protein 852 102 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.P102P(4)|p.P52P(2) endometrium(2)|kidney(1)|lung(5) 8 CTTCATTTGAGGGTTGTCCTT 0.408000 27 17 0 0 0.024334 0 0 C9orf131 138724 broad.mit.edu 37 9 35042966 35042966 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:35042966C>A ENST00000312292.5 + 2 387 c.340C>A c.(340-342)Ctg>Atg p.L114M C9orf131_ENST00000354479.5_Missense_Mutation_p.L41M|C9orf131_ENST00000421362.2_Missense_Mutation_p.L66M NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 114 p.L114M(2) cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) cgaggCATCTCTGGATCCACT 0.557000 54 43 2.01872e-29 2.57947e-29 0.048971 1 0 ATMIN 23300 broad.mit.edu 37 16 81069732 81069732 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:81069732G>T ENST00000299575.4 + 1 281 c.257G>T c.(256-258)tGc>tTc p.C86F NM_015251.2 NP_056066.2 O43313 ATMIN_HUMAN ATM interactor 86 response to DNA damage stimulus nucleus zinc ion binding p.C86F(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 AACATCCTGTGCACCGTGCGC 0.736000 8 32 0.000157383 0.000164537 0.038147 1 0 MYO7A 4647 broad.mit.edu 37 11 76871264 76871264 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:76871264G>C ENST00000409709.3 + 11 1408 c.1136G>C c.(1135-1137)gGg>gCg p.G379A MYO7A_ENST00000409619.2_Missense_Mutation_p.G368A|MYO7A_ENST00000458637.2_Missense_Mutation_p.G379A|MYO7A_ENST00000409893.1_Missense_Mutation_p.G379A NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 379 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity p.G379A(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 ATCACCCGCGGGGAGACGGTG 0.667000 5 4 0 0 0.014758 0 0 GPR123 84435 broad.mit.edu 37 10 134896297 134896297 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:134896297G>A ENST00000607359.1 + 7 1309 c.1309G>A c.(1309-1311)Gtg>Atg p.V437M Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 integral to membrane|plasma membrane G-protein coupled receptor activity p.V437M(1)|p.V437L(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) GCCTGGATGCGTGTGCCAGGG 0.672000 8 28 0 0 0.047766 0 0 PLXND1 23129 broad.mit.edu 37 3 129308193 129308193 + Splice_Site SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:129308193C>T ENST00000393239.1 - 2 1667 c.e2+1 PLXND1_ENST00000324093.4_Splice_Site Q9Y4D7 PLXD1_HUMAN plexin D1 axon guidance integral to membrane|intracellular|plasma membrane p.?(1) PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 ACCATACCTACCTTGAGAAGC 0.667000 10 27 0 0 0.016723 0 0 CTBP2 1488 broad.mit.edu 37 10 126683170 126683170 + Silent SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:126683170C>A ENST00000309035.6 - 5 2398 c.2268G>T c.(2266-2268)ggG>ggT p.G756G CTBP2_ENST00000334808.6_Silent_p.G284G|CTBP2_ENST00000337195.5_Silent_p.G216G|CTBP2_ENST00000494626.2_Silent_p.G216G|CTBP2_ENST00000531469.1_Silent_p.G216G|CTBP2_ENST00000411419.2_Silent_p.G216G NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 216 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding p.G756G(1)|p.G216G(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) ACCGCTCGATCCCATCCTGCA 0.557000 22 136 2.79863e-10 3.09464e-10 0.024334 1 0 LGI1 9211 broad.mit.edu 37 10 95549856 95549856 + Splice_Site SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:95549856G>T ENST00000371418.4 + 5 692 c.431_splice c.e5-1 p.L144_splice LGI1_ENST00000542308.1_Splice_Site_p.L96_splice|LGI1_ENST00000371413.3_Splice_Site_p.L144_splice NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 144 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding p.L144F(1) central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) TTTTTTCCAGGAGCCTTGCAA 0.338000 9 33 2.17888e-05 2.28832e-05 0.006214 1 0 FTH1P3 2498 broad.mit.edu 37 5 17354234 17354234 + RNA SNP C C T rs2652638 by1000genomes TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:17354234C>T ENST00000511821.1 + 0 101 FTH1P10_ENST00000401830.3_RNA CACACTCCATCGCATTCAGCC 0.468000 6 167 0 0 0.020292 0 0 C1orf222 339457 broad.mit.edu 37 1 1920356 1920356 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:1920356C>T ENST00000434971.2 - 3 156 c.124G>A c.(124-126)Gag>Aag p.E42K Q69YW0 CA222_HUMAN chromosome 1 open reading frame 222 0 p.E42K(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1) 11 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) ACGTCATCCTCAGCTTCCTGT 0.532000 12 59 0 0 0.033300 0 0 MYO7B 4648 broad.mit.edu 37 2 128366435 128366435 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:128366435G>A ENST00000389524.4 + 22 2849 c.2796G>A c.(2794-2796)caG>caA p.Q932Q MYO7B_ENST00000428314.1_Silent_p.Q932Q|MYO7B_ENST00000409816.2_Silent_p.Q932Q Q6PIF6 MYO7B_HUMAN myosin VIIB 932 apical plasma membrane|myosin complex actin binding|ATP binding|motor activity p.Q932Q(4) breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) AGGAGGGCCAGGCCTCGCCGC 0.622000 15 20 0 0 0.014323 0 0 SPAM1 6677 broad.mit.edu 37 7 123599915 123599915 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:123599915G>A ENST00000340011.5 + 5 1779 c.1422G>A c.(1420-1422)gaG>gaA p.E474E SPAM1_ENST00000460182.1_Silent_p.E474E|SPAM1_ENST00000439500.1_Silent_p.E474E|SPAM1_ENST00000402183.2_Silent_p.E474E|SPAM1_ENST00000223028.7_Silent_p.E474E NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 474 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 p.E474E(4) 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) CTCCCATGGAGACAGAAGAAC 0.383000 16 46 0 0 0.028581 0 0 KCNH7 90134 broad.mit.edu 37 2 163253285 163253285 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:163253285C>G ENST00000332142.5 - 11 2677 c.2578G>C c.(2578-2580)Gag>Cag p.E860Q NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 860 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.E860Q(2) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) AAAGTCAACTCTAGGTTTGTT 0.363000 16 22 0 0 0.028581 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57080108 57080108 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:57080108A>G ENST00000532437.1 - 4 2365 c.2054T>C c.(2053-2055)cTg>cCg p.L685P TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.L685P Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 685 Acidic.|Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding p.L685P(2) breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) GAGGTCGTCCAGCCAGCGGGA 0.647000 47 78 0 0 0.048971 0 0 ABCA8 10351 broad.mit.edu 37 17 66933233 66933233 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:66933233C>G ENST00000269080.2 - 4 462 c.325G>C c.(325-327)Gat>Cat p.D109H ABCA8_ENST00000586539.1_Missense_Mutation_p.D109H|ABCA8_ENST00000430352.2_Missense_Mutation_p.D109H NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 109 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.D109H(2) breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) CTTTCCTCATCTGGCAGTCCC 0.338000 21 29 0 0 0.049695 0 0 KLK14 43847 broad.mit.edu 37 19 51581323 51581323 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:51581323C>T ENST00000391802.1 - 7 963 c.745G>A c.(745-747)Gtc>Atc p.V249I KLK14_ENST00000156499.2_Missense_Mutation_p.V249I NM_022046.4 NP_071329.2 Q9P0G3 KLK14_HUMAN kallikrein-related peptidase 14 249 Peptidase S1. epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction extracellular space serine-type endopeptidase activity p.V233I(2)|p.V249I(2) kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 11 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422) TTGGTGTAGACACCGGGGTAG 0.622000 22 156 0 0 0.018920 0 0 POLR1A 25885 broad.mit.edu 37 2 86305044 86305044 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:86305044C>T ENST00000263857.6 - 11 1696 c.1318G>A c.(1318-1320)Gct>Act p.A440T POLR1A_ENST00000409681.1_Missense_Mutation_p.A440T O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 440 YA -> ST (in Ref. 1; AAC99959). termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding p.A440T(2) NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GAGCGCGCAGCGTAGTCCACT 0.453000 48 215 0 0 0.048971 0 0 GAS2L1 10634 broad.mit.edu 37 22 29704500 29704500 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr22:29704500C>T ENST00000471961.1 + 1 1453 c.405C>T c.(403-405)agC>agT p.S135S GAS2L1_ENST00000360113.2_Silent_p.S135S|GAS2L1_ENST00000407647.2_Silent_p.S135S|GAS2L1_ENST00000406549.3_Silent_p.S135S|GAS2L1_ENST00000341313.6_Silent_p.S135S|GAS2L1_ENST00000403764.1_Silent_p.S135S|GAS2L1_ENST00000407854.1_Silent_p.S135S Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 135 CH. cell cycle arrest cytoplasm|cytoskeleton p.S135S(2) endometrium(2)|lung(2)|prostate(1) 5 ACGAGAAGAGCGTGGTGCTGT 0.667000 5 30 0 0 0.014758 0 0 SLC35A1 10559 broad.mit.edu 37 6 88218187 88218187 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:88218187G>A ENST00000369552.4 + 6 651 c.624G>A c.(622-624)gtG>gtA p.V208V SLC35A1_ENST00000544441.1_Silent_p.V74V|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000464978.1_3'UTR|SLC35A1_ENST00000369557.5_Intron|SLC35A1_ENST00000369556.3_Intron NM_006416.4 NP_006407.1 P78382 S35A1_HUMAN solute carrier family 35 (CMP-sialic acid transporter), member A1 208 carbohydrate metabolic process|protein modification process Golgi membrane|integral to plasma membrane CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity p.V208V(2) breast(1)|kidney(3)|large_intestine(2)|lung(3) 9 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0429) CTCTTTGGGTGAGAAACATTC 0.294000 16 14 0 0 0.055883 0 0 PI15 51050 broad.mit.edu 37 8 75756265 75756265 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:75756265G>A ENST00000260113.2 + 3 502 c.323G>A c.(322-324)tGc>tAc p.C108Y RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.C108Y|RP11-758M4.4_ENST00000518128.1_RNA NM_015886.3 NP_056970.1 O43692 PI15_HUMAN peptidase inhibitor 15 108 extracellular region peptidase inhibitor activity p.C108Y(2) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1) 30 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) GCGGCTACTTGCATTTGGGAC 0.428000 29 128 0 0 0.037714 0 0 ZNF566 84924 broad.mit.edu 37 19 36967453 36967453 + Nonsense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:36967453G>A ENST00000454319.1 - 2 141 c.7C>T c.(7-9)Cag>Tag p.Q3* ZNF566_ENST00000424129.2_Nonsense_Mutation_p.Q3*|ZNF566_ENST00000493391.1_5'UTR|ZNF566_ENST00000392170.2_Nonsense_Mutation_p.Q3*|ZNF566_ENST00000434377.2_Nonsense_Mutation_p.Q3*|ZNF566_ENST00000472909.2_5'UTR NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q3*(2) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) TATCTCACCTGAGCCATGGCT 0.398000 13 66 0 0 0.016723 0 0 SORCS1 114815 broad.mit.edu 37 10 108434855 108434855 + Missense_Mutation SNP A A C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:108434855A>C ENST00000263054.6 - 14 1899 c.1892T>G c.(1891-1893)tTt>tGt p.F631C SORCS1_ENST00000369698.1_Missense_Mutation_p.F166C|SORCS1_ENST00000344440.6_Missense_Mutation_p.F631C NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 631 integral to membrane neuropeptide receptor activity|protein binding p.F631C(2) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CCCATCCACAAAAAGTGGAAT 0.398000 49 78 0 0 0.048971 0 0 SPACA1 81833 broad.mit.edu 37 6 88773828 88773828 + Nonsense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:88773828A>T ENST00000237201.1 + 6 739 c.622A>T c.(622-624)Aga>Tga p.R208* SPACA1_ENST00000462690.1_Intron NM_030960.2 NP_112222.1 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 208 integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) ATTGCAGATGAGAAGATCAAG 0.323000 5 54 0 0 0.014758 0 0 PI15 51050 broad.mit.edu 37 8 75756266 75756266 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:75756266C>T ENST00000260113.2 + 3 503 c.324C>T c.(322-324)tgC>tgT p.C108C RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Silent_p.C108C|RP11-758M4.4_ENST00000518128.1_RNA NM_015886.3 NP_056970.1 O43692 PI15_HUMAN peptidase inhibitor 15 108 extracellular region peptidase inhibitor activity p.C108Y(2) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1) 30 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) CGGCTACTTGCATTTGGGACC 0.433000 29 128 0 0 0.034045 0 0 CLSTN2 64084 broad.mit.edu 37 3 139894884 139894884 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:139894884C>T ENST00000458420.3 + 2 391 c.201C>T c.(199-201)gcC>gcT p.A67A NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 67 Cadherin 1. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding p.A67A(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CACTGGTAGCCCTGGATAAAG 0.468000 HNSCC(16;0.037) 8 108 0 0 0.047766 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077532 19077532 + Missense_Mutation SNP G G A rs60756581 byFrequency TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:19077532G>A ENST00000329773.2 - 2 505 c.418C>T c.(418-420)Cgc>Tgc p.R140C NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 140 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding p.R140C(2) NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 CTGGGGCGGCGGCAGCGATAC 0.607000 22 90 0 0 0.018920 0 0 SLC22A4 6583 broad.mit.edu 37 5 131630701 131630701 + Splice_Site SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:131630701A>T ENST00000200652.3 + 1 566 c.393_splice c.e1+1 p.E131_splice P4HA2_ENST00000471826.1_Intron NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 131 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity p.E131V(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) GTCGTGACCGAGGTGGGTGCC 0.701000 10 6 0 0 0.010729 0 0 RECK 8434 broad.mit.edu 37 9 36112407 36112407 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:36112407A>T ENST00000377966.3 + 16 2560 c.1994A>T c.(1993-1995)cAg>cTg p.Q665L NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 665 Kazal-like 1. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity p.Q665L(2) cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) CAAGACCATCAGTTTGAGTTT 0.463000 43 68 0 0 0.048971 0 0 OCA2 4948 broad.mit.edu 37 15 28202874 28202874 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:28202874C>A ENST00000354638.3 - 16 1799 c.1644G>T c.(1642-1644)aaG>aaT p.K548N OCA2_ENST00000353809.5_Missense_Mutation_p.K524N|OCA2_ENST00000382996.2_Missense_Mutation_p.K548N NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 548 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding p.K548N(2)|p.K548K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GAATCTCGTGCTTCAGTTCTG 0.612000 Oculocutaneous Albinism 34 56 1.414e-09 1.55608e-09 0.017118 1 0 DST 667 broad.mit.edu 37 6 56480781 56480781 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:56480781C>T ENST00000370765.6 - 24 7591 c.7484G>A c.(7483-7485)gGc>gAc p.G2495D DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1791 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GTACTTTTTGCCAGTAAGAGG 0.507000 5 152 0 0 0.021553 0 0 ZNF611 81856 broad.mit.edu 37 19 53208732 53208732 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:53208732C>G ENST00000543227.1 - 6 1850 c.1576G>C c.(1576-1578)Gag>Cag p.E526Q ZNF611_ENST00000453741.2_Missense_Mutation_p.E457Q|ZNF611_ENST00000540744.1_Missense_Mutation_p.E526Q|ZNF611_ENST00000595798.1_Missense_Mutation_p.E457Q|ZNF611_ENST00000319783.1_Missense_Mutation_p.E526Q|ZNF611_ENST00000602162.1_Missense_Mutation_p.E457Q NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 526 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E526Q(2) breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TTATGTGTCTCAAGGCTTGAT 0.358000 109 196 0 0 0.048971 0 0 HNRNPC 3183 broad.mit.edu 37 14 21699132 21699132 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:21699132G>A ENST00000320084.7 - 3 580 c.341C>T c.(340-342)cCg>cTg p.P114L HNRNPC_ENST00000449098.1_Intron|HNRNPC_ENST00000430246.2_Intron|HNRNPC_ENST00000555309.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000420743.2_Missense_Mutation_p.P114L|HNRNPC_ENST00000336053.6_Intron|HNRNPC_ENST00000554969.1_Intron|HNRNPC_ENST00000554455.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000553753.1_Intron|HNRNPC_ENST00000557201.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000556897.1_Intron|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000556513.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000556142.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000555883.1_Intron|HNRNPC_ENST00000553300.1_Intron|HNRNPC_ENST00000555914.1_Intron NM_001077442.1 NP_001070910.1 P07910 HNRPC_HUMAN heterogeneous nuclear ribonucleoprotein C (C1/C2) 114 catalytic step 2 spliceosome|nucleoplasm identical protein binding|nucleotide binding|RNA binding p.P114L(1) breast(1)|liver(1)|lung(6)|skin(1) 9 all_cancers(95;0.00176) Epithelial(56;1.08e-06)|all cancers(55;8.95e-06) GBM - Glioblastoma multiforme(265;0.00783) TAGAGGGGACGGAGAAGGGTG 0.478000 19 168 0 0 0.043863 0 0 RTBDN 83546 broad.mit.edu 37 19 12939476 12939476 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:12939476C>T ENST00000393233.2 - 5 785 c.236G>A c.(235-237)aGg>aAg p.R79K RTBDN_ENST00000589272.1_Silent_p.Q152Q|RTBDN_ENST00000458671.2_Silent_p.Q120Q|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000322912.5_Silent_p.Q152Q|RTBDN_ENST00000592204.1_Silent_p.Q130Q NM_001270440.1 NP_001257369.1 Q9BSG5 RTBDN_HUMAN retbindin 0 extracellular region p.Q152Q(1) kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12 CCTACCAGGCCTGGCAGAGCT 0.647000 20 55 0 0 0.021523 0 0 CABLES2 81928 broad.mit.edu 37 20 60971600 60971600 + Silent SNP G G C rs148559612 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:60971600G>C ENST00000279101.5 - 2 419 c.411C>G c.(409-411)gcC>gcG p.A137A NM_031215.2 NP_112492.2 Q9BTV7 CABL2_HUMAN Cdk5 and Abl enzyme substrate 2 137 cell cycle|cell division|regulation of cell cycle|regulation of cell division cyclin-dependent protein kinase regulator activity endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1) 11 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) CGCATCCCACGGCATCTTCCA 0.667000 9 65 0 0 0.010729 0 0 MUC2 4583 broad.mit.edu 37 11 1093344 1093344 + Silent SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:1093344G>T ENST00000441003.2 + 30 5190 c.5163G>T c.(5161-5163)ccG>ccT p.P1721P MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Silent_p.P1688P|MUC2_ENST00000333592.6_Silent_p.P9P NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1713 Approximate repeats. inner mucus layer|outer mucus layer protein binding p.P1688P(1)|p.P1721P(1) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ccccaaccccgacacccatct 0.642000 7 35 2.0095e-06 2.12011e-06 0.029380 1 0 HERC1 8925 broad.mit.edu 37 15 64045267 64045267 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:64045267C>A ENST00000443617.2 - 8 1879 c.1792G>T c.(1792-1794)Gat>Tat p.D598Y NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 598 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity p.D598Y(4) NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CTGTTGGTATCACCATGACCA 0.343000 10 53 7.48243e-07 8.00446e-07 0.006214 1 0 KLHL25 64410 broad.mit.edu 37 15 86311732 86311732 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:86311732G>T ENST00000337975.5 - 2 1584 c.1310C>A c.(1309-1311)gCc>gAc p.A437D KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.A437D NM_022480.3 NP_071925.2 Q9H0H3 ENC2_HUMAN kelch-like family member 25 437 cytoplasm p.A437D(2) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 25 CACCACTGCGGCATTGCTGAC 0.587000 33 130 4.74835e-14 5.46061e-14 0.045705 1 0 TOMM70A 9868 broad.mit.edu 37 3 100100548 100100548 + Silent SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:100100548C>A ENST00000284320.5 - 5 1243 c.795G>T c.(793-795)acG>acT p.T265T NM_014820.4 NP_055635.3 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) 265 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity p.T265T(2) endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 32 TGATATCATCCGTGAAAGAAC 0.378000 42 59 6.45866e-13 7.35392e-13 0.033182 1 0 HOXB3 3213 broad.mit.edu 37 17 46628504 46628504 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:46628504C>T ENST00000470495.1 - 2 1935 c.488G>A c.(487-489)gGa>gAa p.G163E HOXB3_ENST00000498678.1_Missense_Mutation_p.G163E|HOXB3_ENST00000476342.1_Missense_Mutation_p.G163E|HOXB3_ENST00000489475.1_Missense_Mutation_p.G90E|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.G31E|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.G31E|HOXB3_ENST00000490677.1_Missense_Mutation_p.G29E|HOXB3_ENST00000311626.4_Missense_Mutation_p.G163E|HOXB3_ENST00000472863.1_Missense_Mutation_p.G90E P14651 HXB3_HUMAN homeobox B3 163 Gly-rich. angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G163E(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 accactgcctccgccgccgcc 0.711000 5 8 0 0 0.021553 0 0 CEP57 9702 broad.mit.edu 37 11 95546154 95546154 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:95546154G>C ENST00000325542.5 + 3 499 c.261G>C c.(259-261)agG>agC p.R87S CEP57_ENST00000537677.1_Missense_Mutation_p.R60S|CEP57_ENST00000538658.1_Missense_Mutation_p.R87S|CEP57_ENST00000541150.1_Missense_Mutation_p.R78S|CEP57_ENST00000325486.5_Missense_Mutation_p.R87S|CEP57_ENST00000536587.1_3'UTR NM_001243776.1|NM_014679.4 NP_001230705.1|NP_055494.2 Q86XR8 CEP57_HUMAN centrosomal protein 57kDa 87 centrosome localization domain (CLD) (By similarity). fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development centrosome|cytosol|Golgi apparatus|microtubule|nucleus fibroblast growth factor binding|protein homodimerization activity p.R87S(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AACTTGAGAGGATTCAGGCAG 0.368000 Mosaic Variegated Aneuploidy Syndrome 26 124 0 0 0.018920 0 0 PIGG 54872 broad.mit.edu 37 4 515659 515659 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:515659G>C ENST00000453061.2 + 8 1649 c.1543G>C c.(1543-1545)Gcc>Ccc p.A515P PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000504346.1_Missense_Mutation_p.A426P|PIGG_ENST00000536264.1_3'UTR|PIGG_ENST00000509768.1_Missense_Mutation_p.A426P|PIGG_ENST00000383028.4_Missense_Mutation_p.A382P|PIGG_ENST00000310340.5_Missense_Mutation_p.A507P|PIGG_ENST00000296306.7_3'UTR NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 515 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity p.A507P(2) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 GATGGTGCTGGCCTCGGCGCT 0.587000 30 81 0 0 0.041601 0 0 ZNF141 7700 broad.mit.edu 37 4 367007 367007 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:367007G>A ENST00000240499.7 + 4 930 c.781G>A c.(781-783)Ggc>Agc p.G261S ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron NM_003441.2 NP_003432.1 Q15928 ZN141_HUMAN zinc finger protein 141 261 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding p.G261S(2) breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 18 TGAAGAATGTGGCAAAGCCTT 0.368000 91 81 0 0 0.048971 0 0 RSPH6A 81492 broad.mit.edu 37 19 46305469 46305469 + Silent SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:46305469C>A ENST00000221538.3 - 4 1849 c.1707G>T c.(1705-1707)ctG>ctT p.L569L RSPH6A_ENST00000600188.1_Silent_p.L305L|RSPH6A_ENST00000597055.1_Silent_p.L569L NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 569 Glu-rich. intracellular p.L569L(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 cctcctcccccaggtcctcct 0.627000 13 10 2.68362e-12 3.04055e-12 0.013537 1 0 RYR2 6262 broad.mit.edu 37 1 237995884 237995884 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:237995884G>T ENST00000366574.2 + 105 15158 c.14841G>T c.(14839-14841)agG>agT p.R4947S RYR2_ENST00000360064.6_Missense_Mutation_p.R4953S|RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.R4931S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4947 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 p.R4945S(2) 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) ATCAAGAAAGGTGTTGGGAAT 0.388000 17 21 8.34094e-07 8.88155e-07 0.049695 1 0 KIAA1456 57604 broad.mit.edu 37 8 12878692 12878692 + Silent SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:12878692C>A ENST00000524591.2 + 5 993 c.504C>A c.(502-504)ctC>ctA p.L168L KIAA1456_ENST00000447063.2_Intron NM_001099677.1|NM_020844.2 NP_001093147.1|NP_065895.2 Q9P272 K1456_HUMAN KIAA1456 168 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 GTTCCCAGCTCTTCTCAGAGT 0.507000 16 53 1.96292e-10 2.18102e-10 0.055883 1 0 EXPH5 23086 broad.mit.edu 37 11 108380461 108380461 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:108380461C>T ENST00000265843.4 - 6 5883 c.5773G>A c.(5773-5775)Gat>Aat p.D1925N EXPH5_ENST00000443411.1_Missense_Mutation_p.D1737N|EXPH5_ENST00000428840.1_Missense_Mutation_p.D1849N|EXPH5_ENST00000525344.1_Missense_Mutation_p.D1918N NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1925 intracellular protein transport Rab GTPase binding p.D1925N(2) breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTCCTCAAATCATCTTTTAGG 0.408000 47 64 0 0 0.039052 0 0 TTC16 158248 broad.mit.edu 37 9 130479208 130479208 + Missense_Mutation SNP T T A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr9:130479208T>A ENST00000373289.3 + 2 184 c.104T>A c.(103-105)aTc>aAc p.I35N PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_5'UTR|TTC16_ENST00000393748.4_Intron NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 35 binding p.I35N(1) central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 CTGCAGCACATCTTTGGGACC 0.542000 15 23 0 0 1 0 0 EID3 493861 broad.mit.edu 37 12 104698247 104698247 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:104698247C>A ENST00000527879.1 + 1 731 c.535C>A c.(535-537)Cgt>Agt p.R179S TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000526390.1_Intron NM_001008394.2 NP_001008395.1 Q8N140 EID3_HUMAN EP300 interacting inhibitor of differentiation 3 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus p.R179S(1) large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 CAAGCTAGAACGTTCTGCACC 0.428000 14 118 4.7546e-09 5.30586e-09 1 1 0 LIG3 3980 broad.mit.edu 37 17 33329065 33329065 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:33329065G>A ENST00000378526.4 + 18 2749 c.2616G>A c.(2614-2616)aaG>aaA p.K872K LIG3_ENST00000262327.5_Silent_p.K872K NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 872 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding p.K872K(1)|p.K785K(1) endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) CCCCCAGCAAGCCCTCAGCCA 0.572000 Other BER factors 8 152 0 0 1 0 0 RMND5B 64777 broad.mit.edu 37 5 177570722 177570722 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:177570722C>T ENST00000515098.1 + 7 872 c.521C>T c.(520-522)gCg>gTg p.A174V RMND5B_ENST00000542098.1_Missense_Mutation_p.A161V|RMND5B_ENST00000313386.4_Missense_Mutation_p.A174V Q96G75 RMD5B_HUMAN required for meiotic nuclear division 5 homolog B (S. cerevisiae) 174 CTLH. p.A174V(2) endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 17 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGGGTCCTGCGTTGGAGTAA 0.527000 4 34 0 0 1 0 0 PDZD8 118987 broad.mit.edu 37 10 119043731 119043731 + Missense_Mutation SNP T T G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr10:119043731T>G ENST00000334464.5 - 5 2752 c.2513A>C c.(2512-2514)gAa>gCa p.E838A NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 838 intracellular signal transduction metal ion binding p.E838A(1) kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) GTGTTTGTTTTCTGTTAAACC 0.383000 63 71 0 0 1 0 0 RPP40 10799 broad.mit.edu 37 6 4996626 4996626 + Nonsense_Mutation SNP A A T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr6:4996626A>T ENST00000380051.2 - 6 632 c.588T>A c.(586-588)taT>taA p.Y196* RPP40_ENST00000464646.1_Nonsense_Mutation_p.Y136*|RPP40_ENST00000319533.5_Nonsense_Mutation_p.Y173* NM_006638.2 NP_006629.2 O75818 RPP40_HUMAN ribonuclease P/MRP 40kDa subunit 196 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity p.Y196*(1) NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 14 Ovarian(93;0.11) all_hematologic(90;0.0895) ACTTGGAAAAATATGACATCA 0.453000 39 223 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61525430 61525430 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr20:61525430C>G ENST00000266070.4 - 12 3014 c.2689G>C c.(2689-2691)Gat>Cat p.D897H DIDO1_ENST00000395335.2_Missense_Mutation_p.D897H|DIDO1_ENST00000395343.1_Missense_Mutation_p.D897H|DIDO1_ENST00000395340.1_Missense_Mutation_p.D897H NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 897 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.D897H(1) NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TCAGCTGAATCCGGAGCTGGG 0.478000 11 89 0 0 1 0 0 SH2B1 25970 broad.mit.edu 37 16 28878061 28878061 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr16:28878061G>C ENST00000337120.5 + 1 3937 c.646G>C c.(646-648)Gat>Cat p.D216H SH2B1_ENST00000395532.4_Missense_Mutation_p.D216H|SH2B1_ENST00000359285.5_Missense_Mutation_p.D216H|SH2B1_ENST00000322610.8_Missense_Mutation_p.D216H|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000538342.1_Intron NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 216 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity p.D216H(2) endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 ACTGGTCAGTGATGGAACGTC 0.622000 11 14 0 0 1 0 0 FOXM1 2305 broad.mit.edu 37 12 2977850 2977850 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:2977850A>T ENST00000342628.2 - 4 838 c.725T>A c.(724-726)aTg>aAg p.M242K FOXM1_ENST00000359843.3_Missense_Mutation_p.M242K|FOXM1_ENST00000361953.3_Missense_Mutation_p.M242K|FOXM1_ENST00000537018.1_5'UTR NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 242 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding p.M242K(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) TATCATGGCCATGTAAGAGTA 0.498000 64 190 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68115636 68115636 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:68115636A>G ENST00000294304.7 + 2 519 c.413A>G c.(412-414)aAt>aGt p.N138S NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 138 Beta-propeller 1. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity p.N138S(1) autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GCCAACCTCAATGGCACATCC 0.647000 52 107 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31855382 31855382 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr6:31855382G>A ENST00000395728.3 - 14 2153 c.2154C>T c.(2152-2154)ggC>ggT p.G718G EHMT2_ENST00000375530.4_Silent_p.G627G|EHMT2_ENST00000375528.4_Silent_p.G684G|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Silent_p.G661G Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 661 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 TCTGCAGCTCGCCCTGCTTCA 0.592000 4 60 0 0 1 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89102315 89102315 + RNA SNP G G T rs335126 by1000genomes TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:89102315G>T ENST00000393525.3 + 0 2789 GCTTCATCGCGTCACTGCATC 0.378000 3 27 1 1 1 1 0 SHPRH 257218 broad.mit.edu 37 6 146266588 146266588 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr6:146266588C>A ENST00000367503.3 - 8 1905 c.1507G>T c.(1507-1509)Ggt>Tgt p.G503C SHPRH_ENST00000367505.2_Missense_Mutation_p.G503C|SHPRH_ENST00000275233.7_Missense_Mutation_p.G503C|SHPRH_ENST00000438092.2_Missense_Mutation_p.G503C NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 503 H15. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) CCAGAAAAACCATGGCCTTTG 0.348000 4 72 2.56e-06 2.77634e-06 1 1 0 OR51Q1 390061 broad.mit.edu 37 11 5444131 5444131 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:5444131C>A ENST00000300778.4 + 1 791 c.701C>A c.(700-702)gCt>gAt p.A234D HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A234D(2) endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCACCTGGGCTGAGCGACTC 0.483000 128 250 6.74356e-53 8.51236e-53 1 1 0 LIPI 149998 broad.mit.edu 37 21 15561527 15561527 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr21:15561527C>T ENST00000344577.2 - 2 348 c.323G>A c.(322-324)gGc>gAc p.G108D LIPI_ENST00000536861.1_Missense_Mutation_p.G87D NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 87 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity p.G108D(1) endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TGGGATGGAGCCTACTGGTCT 0.393000 11 152 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626979 108626979 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:108626979G>A ENST00000264047.2 + 9 1681 c.1405G>A c.(1405-1407)Gat>Aat p.D469N SLC5A7_ENST00000540517.1_Missense_Mutation_p.D364N|SLC5A7_ENST00000409059.1_Missense_Mutation_p.D469N NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 469 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity p.D469N(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TTACCCTGATGATAATGGTAT 0.398000 8 108 0 0 1 0 0 MSC 9242 broad.mit.edu 37 8 72754901 72754901 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr8:72754901C>T ENST00000325509.4 - 2 905 c.616G>A c.(616-618)Gct>Act p.A206T MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron NM_005098.3 NP_005089.2 O60682 MUSC_HUMAN musculin 206 transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.A206T(2) endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2) 26 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) CCGATTTAAGCGGTGGTTCCA 0.493000 122 534 0 0 1 0 0 LHX8 431707 broad.mit.edu 37 1 75608822 75608822 + Missense_Mutation SNP T T G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:75608822T>G ENST00000294638.5 + 6 1073 c.409T>G c.(409-411)Tct>Gct p.S137A LHX8_ENST00000356261.3_Missense_Mutation_p.S127A NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 137 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S137A(2) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 AACTCGCTGCTCTCGATGTGG 0.443000 14 90 0 0 1 0 0 TM4SF19 116211 broad.mit.edu 37 3 196050777 196050777 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:196050777G>T ENST00000446879.1 - 5 662 c.537C>A c.(535-537)ttC>ttA p.F179L TM4SF19_ENST00000273695.3_Missense_Mutation_p.L181M|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19_ENST00000454715.1_Missense_Mutation_p.L155M Q96DZ7 T4S19_HUMAN transmembrane 4 L six family member 19 0 integral to membrane p.L181M(2) endometrium(2)|kidney(2)|large_intestine(3)|lung(5) 12 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) CTGATGCACAGAAGGGCGGAG 0.567000 12 66 0.00010058 0.000107565 1 1 0 DCAF8L2 347442 broad.mit.edu 37 X 27766598 27766598 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chrX:27766598C>T ENST00000451261.2 + 5 1985 c.1586C>T c.(1585-1587)gCg>gTg p.A529V NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 p.A496V(2) central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 CCTGTGTTGGCGTGCAGTGGC 0.473000 63 28 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38406296 38406296 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:38406296G>A ENST00000322350.5 + 7 1127 c.781G>A c.(781-783)Gat>Aat p.D261N EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D27N|EGFLAM_ENST00000354891.3_Missense_Mutation_p.D261N NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 261 cell junction|proteinaceous extracellular matrix|synapse p.D261N(4) NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TGGTGAGGATGATGAAGGATT 0.473000 76 118 0 0 1 0 0 SDCBP2 27111 broad.mit.edu 37 20 1298989 1298989 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr20:1298989G>A ENST00000360779.3 - 4 371 c.198C>T c.(196-198)agC>agT p.S66S SDCBP2_ENST00000339987.3_Silent_p.S66S|SDCBP2_ENST00000381812.1_Silent_p.S66S NM_080489.4 NP_536737.3 Q9H190 SDCB2_HUMAN syndecan binding protein (syntenin) 2 66 intracellular signal transduction|intracellular transport|nervous system development cytoplasm protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity p.S66S(2) endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1) 7 TCTGAAGCAGGCTCTCCTGGA 0.478000 4 78 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617598 77617598 + Silent SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr8:77617598C>A ENST00000521891.2 + 2 1723 c.1275C>A c.(1273-1275)ctC>ctA p.L425L ZFHX4_ENST00000518282.1_Silent_p.L425L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.L425L|ZFHX4_ENST00000050961.6_Silent_p.L425L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 425 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L425L(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTGTCTCCCTCAGCCACTCAT 0.502000 HNSCC(33;0.089) 24 32 7.01153e-11 8.01814e-11 1 1 0 DDX42 11325 broad.mit.edu 37 17 61869884 61869884 + Translation_Start_Site SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:61869884G>A ENST00000359353.5 + 0 300 DDX42_ENST00000389924.2_Missense_Mutation_p.D112N|DDX42_ENST00000578681.1_Missense_Mutation_p.D112N|DDX42_ENST00000457800.2_Missense_Mutation_p.D112N|DDX42_ENST00000583590.1_Missense_Mutation_p.D112N Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding p.D112N(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 TTCTGACAGCGATGATGATCC 0.398000 50 207 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131646712 131646712 + Nonsense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr10:131646712G>A ENST00000368648.3 - 11 1117 c.1045C>T c.(1045-1047)Cag>Tag p.Q349* EBF3_ENST00000355311.5_Nonsense_Mutation_p.Q358* NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 358 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding p.Q349*(3)|p.Q358*(3) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) TGCAACCTCTGAAAGCCGTAA 0.468000 18 86 0 0 1 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205306641 205306641 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:205306641G>A ENST00000367156.3 - 9 1755 c.939C>T c.(937-939)ccC>ccT p.P313P KLHDC8A_ENST00000367155.3_Silent_p.P313P|KLHDC8A_ENST00000460687.1_Silent_p.P179P|KLHDC8A_ENST00000539253.1_Silent_p.P313P|KLHDC8A_ENST00000537168.1_Silent_p.P200P NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 313 p.P313P(1) breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) AGCGGGGTGTGGGCATGGCAG 0.592000 9 252 0 0 1 0 0 PARP11 57097 broad.mit.edu 37 12 3938098 3938098 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:3938098G>A ENST00000228820.4 - 3 390 c.246C>T c.(244-246)ttC>ttT p.F82F PARP11_ENST00000447133.3_Intron|PARP11_ENST00000427057.2_Intron|PARP11_ENST00000397096.2_Silent_p.F75F NM_020367.4 NP_065100.2 Q9NR21 PAR11_HUMAN poly (ADP-ribose) polymerase family, member 11 75 WWE. NAD+ ADP-ribosyltransferase activity p.F75F(2) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 17 all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264) TCTTGTAGCTGAATTTGGAAG 0.358000 8 45 0 0 1 0 0 AGPS 8540 broad.mit.edu 37 2 178402821 178402821 + Silent SNP A A G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:178402821A>G ENST00000264167.4 + 20 2021 c.1875A>G c.(1873-1875)caA>caG p.Q625Q AGPS_ENST00000409888.1_Silent_p.Q156Q NM_003659.3 NP_003650.1 O00116 ADAS_HUMAN alkylglycerone phosphate synthase 625 ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity p.Q625Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) TACGGAAGCAATGGCTAAAGG 0.388000 35 219 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 88935340 88935340 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr14:88935340C>A ENST00000556564.1 - 18 3600 c.3316G>T c.(3316-3318)Gtc>Ttc p.V1106F PTPN21_ENST00000328736.3_Missense_Mutation_p.V1106F NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 1106 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity p.V1106F(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CTGCAGTGGACCAACAACGGA 0.498000 8 107 0.411799 0.417217 1 1 0 LATS2 26524 broad.mit.edu 37 13 21557918 21557918 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr13:21557918G>C ENST00000382592.4 - 5 2332 c.1927C>G c.(1927-1929)Cag>Gag p.Q643E LATS2_ENST00000542899.1_Missense_Mutation_p.Q643E NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 643 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.Q643E(4) breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) TTCCGCATCTGCTCCTGCTCA 0.458000 8 37 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113256703 113256703 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr8:113256703C>T ENST00000297405.5 - 65 10566 c.10322G>A c.(10321-10323)gGc>gAc p.G3441D CSMD3_ENST00000455883.2_Missense_Mutation_p.G3272D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3401D|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3371D NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3441 Sushi 28. integral to membrane|plasma membrane p.G3441D(1)|p.G3401D(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TAAGAAGAAGCCAGGCTGACA 0.448000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 19 395 0 0 1 0 0 XK 7504 broad.mit.edu 37 X 37587670 37587670 + Silent SNP T T C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chrX:37587670T>C ENST00000378616.3 + 3 1493 c.1290T>C c.(1288-1290)ccT>ccC p.P430P TM4SF2_ENST00000465127.1_Intron NM_021083.2 NP_066569.1 P51811 XK_HUMAN X-linked Kx blood group (McLeod syndrome) 430 amino acid transport integral to membrane protein binding|transporter activity p.P430P(1) breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(315;0.175) AAACAAGTCCTGAGCCTGGTC 0.473000 10 290 0 0 1 0 0 NSUN6 221078 broad.mit.edu 37 10 18937479 18937479 + Silent SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr10:18937479C>T ENST00000377304.4 - 2 589 c.171G>A c.(169-171)gtG>gtA p.V57V RP11-139J15.7_ENST00000606425.1_Silent_p.V45V NM_182543.2 NP_872349.1 Q8TEA1 NSUN6_HUMAN NOP2/Sun domain family, member 6 57 methyltransferase activity|RNA binding p.V57V(2) endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 AATGTGTATTCACTCTGACAG 0.338000 29 102 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49048414 49048414 + Nonsense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr15:49048414G>A ENST00000380950.2 - 20 3218 c.3031C>T c.(3031-3033)Cag>Tag p.Q1011* CEP152_ENST00000325747.5_Nonsense_Mutation_p.Q918*|CEP152_ENST00000399334.3_Nonsense_Mutation_p.Q1011* NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 1011 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding p.Q1011*(2) breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) GTCTCCTTCTGAAGAAGTAGT 0.393000 94 185 0 0 1 0 0 RASA4CP 401331 broad.mit.edu 37 7 44076350 44076350 + RNA SNP T T C rs28378571 by1000genomes TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr7:44076350T>C ENST00000446874.1 - 0 202 GCTGCCAAAGTTCTTTTCCTC 0.617000 4 27 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133219516 133219516 + Missense_Mutation SNP T T G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:133219516T>G ENST00000320574.5 - 36 4661 c.4618A>C c.(4618-4620)Aag>Cag p.K1540Q POLE_ENST00000535270.1_Missense_Mutation_p.K1513Q NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1540 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) GGGCCCACCTTCTCCAGGAGG 0.627000 DNA polymerases (catalytic subunits) 8 13 0 0 1 0 0 TSPAN3 10099 broad.mit.edu 37 15 77348204 77348204 + Translation_Start_Site SNP A A T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr15:77348204A>T ENST00000561277.1 - 0 311 TSPAN3_ENST00000559494.1_Intron|TSPAN3_ENST00000558745.1_De_novo_Start_OutOfFrame|TSPAN3_ENST00000267970.4_Splice_Site_p.F86_splice|TSPAN3_ENST00000558394.1_Intron|TSPAN3_ENST00000346495.2_Intron|TSPAN3_ENST00000424443.3_Splice_Site_p.F22_splice O60637 TSN3_HUMAN tetraspanin 3 integral to membrane p.F86Y(2) kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1) 10 all cancers(203;1.14e-19) GATGATGACAAACTGTAAGAA 0.289000 28 65 0 0 1 0 0 GADL1 339896 broad.mit.edu 37 3 30769763 30769763 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:30769763C>T ENST00000282538.5 - 15 1687 c.1537G>A c.(1537-1539)Gag>Aag p.E513K GADL1_ENST00000498387.1_5'UTR NM_207359.2 NP_997242.2 Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 513 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding p.E513K(2)|p.E329K(2) breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) AAGTCTATCTCATCCAGGAGG 0.537000 85 260 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72295931 72295931 + Missense_Mutation SNP T T G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:72295931T>G ENST00000579490.1 + 6 1105 c.970T>G c.(970-972)Tat>Gat p.Y324D DNAI2_ENST00000446837.2_Missense_Mutation_p.Y267D|DNAI2_ENST00000307504.5_Missense_Mutation_p.Y124D|DNAI2_ENST00000311014.6_Missense_Mutation_p.Y267D|DNAI2_ENST00000582036.1_Missense_Mutation_p.Y267D Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 267 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity p.Y267D(2) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 AGACCCTGTGTATGGCACCAT 0.607000 Kartagener syndrome 22 43 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077532 19077532 + Missense_Mutation SNP G G A rs60756581 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:19077532G>A ENST00000329773.2 - 2 505 c.418C>T c.(418-420)Cgc>Tgc p.R140C NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 140 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding p.R140C(2) NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 CTGGGGCGGCGGCAGCGATAC 0.607000 64 222 0 0 1 0 0 SLC44A4 80736 broad.mit.edu 37 6 31833121 31833121 + Silent SNP C C T rs142009471 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr6:31833121C>T ENST00000544672.1 - 17 1799 c.1503G>A c.(1501-1503)gcG>gcA p.A501A SLC44A4_ENST00000229729.6_Silent_p.A577A|SLC44A4_ENST00000375562.4_Silent_p.A535A NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 577 integral to membrane|plasma membrane choline transmembrane transporter activity p.A577A(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) GTAGCATGAACGCATTTTTGG 0.562000 24 143 0 0 1 0 0 USP47 55031 broad.mit.edu 37 11 11941942 11941942 + Silent SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:11941942C>T ENST00000339865.5 + 9 1678 c.915C>T c.(913-915)ttC>ttT p.F305F USP47_ENST00000527733.1_Silent_p.F373F|USP47_ENST00000399455.2_Silent_p.F393F|USP47_ENST00000539466.1_5'UTR NM_017944.3 NP_060414.3 Q96K76 UBP47_HUMAN ubiquitin specific peptidase 47 393 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding p.F305F(2) breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 Epithelial(150;0.000339) TGAAAAGATTCGATTTTGATT 0.358000 10 148 0 0 1 0 0 SRGAP1 57522 broad.mit.edu 37 12 64521497 64521497 + Missense_Mutation SNP T T A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:64521497T>A ENST00000355086.3 + 20 3057 c.2533T>A c.(2533-2535)Tta>Ata p.L845I SRGAP1_ENST00000357825.3_Missense_Mutation_p.L822I|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L782I NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 845 axon guidance cytosol p.L845I(2) breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) TGACGGCTATTTAGCCAGGTA 0.597000 19 168 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5827175 5827175 + Missense_Mutation SNP T T A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chrX:5827175T>A ENST00000381095.3 - 4 1358 c.731A>T c.(730-732)gAc>gTc p.D244V NLGN4X_ENST00000381092.1_Missense_Mutation_p.D244V|NLGN4X_ENST00000538097.1_Missense_Mutation_p.D244V|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D264V|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D244V NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 244 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.D244F(1) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 TCTCTTGGGGTCCCCGCCAAA 0.572000 10 38 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658255 72658255 + RNA SNP A A G rs2539089 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr7:72658255A>G ENST00000425256.1 - 0 1656 NR_002164.1 tcagttttgtaacaagcccgt 0.488000 5 42 0 0 1 0 0 C14orf159 80017 broad.mit.edu 37 14 91691111 91691111 + Silent SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr14:91691111G>T ENST00000518868.1 + 17 2490 c.1800G>T c.(1798-1800)ctG>ctT p.L600L C14orf159_ENST00000522322.1_Silent_p.L595L|C14orf159_ENST00000523816.1_Silent_p.L595L|C14orf159_ENST00000428926.2_Silent_p.L595L|C14orf159_ENST00000412671.2_Silent_p.L600L|C14orf159_ENST00000523771.1_Silent_p.L595L|C14orf159_ENST00000523576.1_3'UTR|C14orf159_ENST00000521077.2_Silent_p.L560L|C14orf159_ENST00000256324.10_Silent_p.L600L|C14orf159_ENST00000520328.1_Silent_p.L543L|C14orf159_ENST00000525393.2_Silent_p.L471L Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 595 mitochondrion p.L595L(2) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) TGGATGGGCTGCCCTTCCACA 0.572000 43 18 3.09479e-21 3.70412e-21 1 1 0 PLCB3 5331 broad.mit.edu 37 11 64029532 64029532 + Silent SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:64029532C>T ENST00000540288.1 + 17 2125 c.2022C>T c.(2020-2022)ctC>ctT p.L674L PLCB3_ENST00000279230.6_Silent_p.L674L|PLCB3_ENST00000325234.5_Silent_p.L607L NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 674 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.L674L(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 TTGTTGCGCTCAACTTCCAGA 0.607000 3 17 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34962140 34962140 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chrX:34962140C>T ENST00000329357.5 + 1 1228 c.1192C>T c.(1192-1194)Cgc>Tgc p.R398C NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 398 p.R398C(2) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 GCCCCATCTCCGCCTGGTGCT 0.582000 74 34 0 0 1 0 0 LINC00854 100874261 broad.mit.edu 37 17 41382119 41382119 + RNA SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:41382119G>C ENST00000433702.2 - 0 14 NR_047479.1 ggtgatagctggggaggagcg 0.562000 2 6 0 0 1 0 0 STARD7-AS1 285033 broad.mit.edu 37 2 96906022 96906022 + RNA SNP T T C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:96906022T>C ENST00000446816.1 + 0 564 CCCTTCAGAATACATGGACAA 0.418000 8 33 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53576594 53576594 + Missense_Mutation SNP A A C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:53576594A>C ENST00000355147.5 - 7 848 c.440T>G c.(439-441)tTc>tGc p.F147C ZNF160_ENST00000599056.1_Intron|ZNF160_ENST00000429604.1_Intron|ZNF160_ENST00000601421.1_Intron|ZNF160_ENST00000418871.1_Intron Q9HCG1 ZN160_HUMAN zinc finger protein 160 0 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) ACAATCTTAGAAGATAGAACC 0.478000 38 76 0 0 1 0 0 GAL3ST4 79690 broad.mit.edu 37 7 99757602 99757602 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr7:99757602G>A ENST00000360039.4 - 4 1802 c.1410C>T c.(1408-1410)ttC>ttT p.F470F GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000413800.1_Silent_p.F470F|GAL3ST4_ENST00000426974.2_Silent_p.F408F NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 470 cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity p.F470F(1) cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CGGTAGGGGGGAACTGCTTGG 0.532000 11 71 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53589517 53589517 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:53589517G>T ENST00000429604.1 - 4 428 c.13C>A c.(13-15)Cag>Aag p.Q5K ZNF160_ENST00000599056.1_Missense_Mutation_p.Q5K|ZNF160_ENST00000355147.5_Missense_Mutation_p.Q5K|ZNF160_ENST00000418871.1_Missense_Mutation_p.Q5K NM_001102603.1|NM_198893.2 NP_001096073.1|NP_942596.1 Q9HCG1 ZN160_HUMAN zinc finger protein 160 5 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q5K(2)|p.Q5E(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) CACTTTACCTGAGTAAGGGCC 0.428000 58 115 1.85257e-25 2.25234e-25 1 1 0 RBM15 64783 broad.mit.edu 37 1 110882847 110882847 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:110882847G>A ENST00000369784.3 + 1 1720 c.820G>A c.(820-822)Ggg>Agg p.G274R RBM15_ENST00000487146.2_Missense_Mutation_p.G274R|RBM15_ENST00000602849.1_Missense_Mutation_p.G274R NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 274 interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding p.G274R(1) ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) CAGTGTGGTCGGGGCCTCTGT 0.597000 T MKL1 acute megakaryocytic leukemia 8 31 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127599169 127599169 + Nonsense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:127599169C>A ENST00000508053.1 - 69 9114 c.8140G>T c.(8140-8142)Gag>Tag p.E2714* FBN2_ENST00000262464.4_Nonsense_Mutation_p.E2714* P35556 FBN2_HUMAN fibrillin 2 2714 EGF-like 47; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.E2714*(4) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TAGCCCCCCTCCGTGTTAGAG 0.587000 119 80 3.63811e-69 4.6176e-69 1 1 0 KIF2A 3796 broad.mit.edu 37 5 61658358 61658358 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:61658358A>G ENST00000381103.2 + 13 1534 c.1049A>G c.(1048-1050)tAt>tGt p.Y350C KIF2A_ENST00000401507.3_Missense_Mutation_p.Y370C|KIF2A_ENST00000407818.3_Missense_Mutation_p.Y370C|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000506857.1_Missense_Mutation_p.Y324C NM_001243952.1 NP_001230881.1 O00139 KIF2A_HUMAN kinesin heavy chain member 2A 370 Kinesin-motor. blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 15 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) TTTGAAATTTATAGTGGAAAG 0.264000 5 3 0 0 1 0 0 TRAV8-6 28680 broad.mit.edu 37 14 22446767 22446767 + RNA SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr14:22446767C>G ENST00000390443.3 + 0 69 CATCCAGGCTCCTTAAGGGAA 0.517000 OREG0022573 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 6 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039045 11039045 + RNA SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr21:11039045G>C ENST00000470054.1 - 0 1158 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGTCATTTCAGAGTCCATCAA 0.373000 98 1836 0 0 1 0 0 PNPLA8 50640 broad.mit.edu 37 7 108113084 108113084 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr7:108113084C>T ENST00000426128.2 - 10 2049 c.1924G>A c.(1924-1926)Gac>Aac p.D642N PNPLA8_ENST00000257694.8_Missense_Mutation_p.D704N|PNPLA8_ENST00000436062.1_Missense_Mutation_p.D704N|PNPLA8_ENST00000422087.1_Missense_Mutation_p.D704N|PNPLA8_ENST00000453144.1_Missense_Mutation_p.D604N|PNPLA8_ENST00000388728.5_Missense_Mutation_p.D642N NM_001256009.1 NP_001242938.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 704 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity p.D704N(1) breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 AAATAGGTGTCAGGAGGTAAC 0.378000 5 105 0 0 1 0 0 GRSF1 2926 broad.mit.edu 37 4 71701932 71701932 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr4:71701932G>C ENST00000254799.6 - 2 574 c.457C>G c.(457-459)Cga>Gga p.R153G GRSF1_ENST00000502323.1_5'UTR|GRSF1_ENST00000508091.1_5'UTR|GRSF1_ENST00000545193.1_Missense_Mutation_p.R35G|GRSF1_ENST00000439371.1_5'UTR NM_002092.3 NP_002083.3 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 153 RRM 1. mRNA polyadenylation mRNA binding|nucleotide binding p.R153G(2) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2) 17 all_hematologic(202;0.21) Lung(101;0.235) CCTTGAGCTCGAATGAGAAAG 0.398000 4 39 0 0 1 0 0 ATP6V1A 523 broad.mit.edu 37 3 113505180 113505180 + Silent SNP A A C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:113505180A>C ENST00000273398.3 + 6 774 c.666A>C c.(664-666)ccA>ccC p.P222P ATP6V1A_ENST00000538620.1_Silent_p.P189P NM_001690.3 NP_001681.2 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A 222 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism p.P222P(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AGAAGCTGCCAGCCAATCATC 0.463000 80 475 0 0 1 0 0 RETSAT 54884 broad.mit.edu 37 2 85577259 85577259 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:85577259G>A ENST00000295802.4 - 4 815 c.703C>T c.(703-705)Ctt>Ttt p.L235F RETSAT_ENST00000263854.6_Missense_Mutation_p.L235F|RETSAT_ENST00000457495.2_Missense_Mutation_p.L174F NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 235 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity p.L235F(1) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) GATGCTTGAAGGAATGGAGAG 0.587000 4 55 0 0 1 0 0 HHEX 3087 broad.mit.edu 37 10 94452138 94452138 + Silent SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr10:94452138C>G ENST00000282728.5 + 2 2174 c.375C>G c.(373-375)ctC>ctG p.L125L HHEX_ENST00000472590.2_5'UTR|HHEX_ENST00000492654.2_5'UTR NM_002729.4 NP_002720.1 Q03014 HHEX_HUMAN hematopoietically expressed homeobox 125 Pro-rich. anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway cytoplasm|nucleus|protein-DNA complex DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding p.L125L(2) kidney(2)|large_intestine(2)|lung(5)|ovary(1) 10 AACCTCTACTCTGGAGCCCCT 0.617000 6 7 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106967651 106967651 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr6:106967651G>T ENST00000369066.3 + 2 1831 c.1344G>T c.(1342-1344)caG>caT p.Q448H NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 448 sugar binding p.Q448H(1) breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) CAAAGCCACAGCATACATTTT 0.502000 5 62 0.014758 0.0152192 1 1 0 GPR152 390212 broad.mit.edu 37 11 67219321 67219321 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:67219321G>T ENST00000312457.2 - 1 879 c.875C>A c.(874-876)cCc>cAc p.P292H NM_206997.1 NP_996880.1 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 292 integral to membrane|plasma membrane G-protein coupled receptor activity p.P292H(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GCAGAGGAAGGGGCTGAGGCA 0.652000 9 15 2.17888e-05 2.35197e-05 1 1 0 VCAN 1462 broad.mit.edu 37 5 82816704 82816704 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:82816704G>A ENST00000265077.3 + 7 3144 c.2579G>A c.(2578-2580)aGt>aAt p.S860N VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.S812N|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.S860N NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 860 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.S860I(1)|p.S860N(1) 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) ATTCCAGATAGTACTCAAAAG 0.413000 9 186 0 0 1 0 0 SLC9A1 6548 broad.mit.edu 37 1 27426971 27426971 + Missense_Mutation SNP C C T rs140504210 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:27426971C>T ENST00000263980.3 - 12 2850 c.2275G>A c.(2275-2277)Gat>Aat p.D759N SLC9A1_ENST00000545949.1_Missense_Mutation_p.D420N NM_003047.4 NP_003038.2 P19634 SL9A1_HUMAN solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 759 regulation of pH integral to membrane sodium:hydrogen antiporter activity p.D759N(1) central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) ATGCCCCCATCGTCGTCCTCG 0.602000 7 63 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48626185 48626185 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:48626185G>C ENST00000328333.8 - 19 2584 c.2477C>G c.(2476-2478)aCa>aGa p.T826R COL7A1_ENST00000454817.1_Missense_Mutation_p.T826R NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 826 Fibronectin type-III 7.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGCAGAGTCTGTGTTTCCTGG 0.607000 7 6 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617600 77617600 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr8:77617600G>A ENST00000521891.2 + 2 1725 c.1277G>A c.(1276-1278)aGc>aAc p.S426N ZFHX4_ENST00000518282.1_Missense_Mutation_p.S426N|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S426N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S426N NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 426 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S426N(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GTCTCCCTCAGCCACTCATCG 0.502000 HNSCC(33;0.089) 25 33 0 0 1 0 0 SLC6A16 28968 broad.mit.edu 37 19 49812634 49812634 + Missense_Mutation SNP A A C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:49812634A>C ENST00000454748.3 - 6 1112 c.911T>G c.(910-912)aTc>aGc p.I304S SLC6A16_ENST00000335875.4_Missense_Mutation_p.I304S Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 304 integral to membrane|intracellular neurotransmitter:sodium symporter activity p.I304S(2) NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) ACCGACAATGATGAAACAGGG 0.493000 31 179 0 0 1 0 0 TMEM260 54916 broad.mit.edu 37 14 57099793 57099793 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr14:57099793C>T ENST00000261556.6 + 13 1750 c.1628C>T c.(1627-1629)tCt>tTt p.S543F TMEM260_ENST00000536419.1_Missense_Mutation_p.S77F|TMEM260_ENST00000538838.1_3'UTR NM_017799.3 NP_060269.3 transmembrane protein 260 CCATGGGGGTCTTGTGACAAA 0.368000 13 43 0 0 1 0 0 RECK 8434 broad.mit.edu 37 9 36112407 36112407 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr9:36112407A>T ENST00000377966.3 + 16 2560 c.1994A>T c.(1993-1995)cAg>cTg p.Q665L NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 665 Kazal-like 1. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity p.Q665L(2) cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) CAAGACCATCAGTTTGAGTTT 0.463000 87 78 0 0 1 0 0 MAN1A2 10905 broad.mit.edu 37 1 117944871 117944871 + Silent SNP A A C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:117944871A>C ENST00000356554.3 + 2 1101 c.366A>C c.(364-366)gcA>gcC p.A122A MAN1A2_ENST00000482811.1_Intron NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 122 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity p.A122A(2) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) TGGAAGAAGCAAAAGAAAAAT 0.373000 24 100 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26881693 26881693 + Missense_Mutation SNP T T C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:26881693T>C ENST00000231021.4 - 12 2094 c.1922A>G c.(1921-1923)aAa>aGa p.K641R NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 641 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.K641R(2) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 AGGTTCCTTTTTTCTTTGCCT 0.388000 47 119 0 0 1 0 0 SLC6A15 55117 broad.mit.edu 37 12 85266387 85266387 + Silent SNP T T A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:85266387T>A ENST00000266682.5 - 8 1837 c.1296A>T c.(1294-1296)ctA>ctT p.L432L SLC6A15_ENST00000552192.1_Silent_p.L325L|SLC6A15_ENST00000309283.7_Silent_p.L140L NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 432 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.L432L(2) kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 TAACTTTATTTAGCTCTTCTT 0.328000 11 65 0 0 1 0 0 VPRBP 9730 broad.mit.edu 37 3 51440599 51440599 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:51440599C>A ENST00000335891.5 - 16 3105 c.3096G>T c.(3094-3096)gaG>gaT p.E1032D Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 1481 interspecies interaction between organisms cytoplasm|nucleus protein binding p.E1485D(2) breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) TCAGTTCCACCTCCTCATCTG 0.527000 27 36 1.414e-09 1.5856e-09 1 1 0 UNC13C 440279 broad.mit.edu 37 15 54305729 54305729 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr15:54305729G>A ENST00000545554.1 + 1 629 c.629G>A c.(628-630)aGa>aAa p.R210K UNC13C_ENST00000537900.1_Missense_Mutation_p.R210K|UNC13C_ENST00000260323.11_Missense_Mutation_p.R210K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 210 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.R210K(4) 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) TGGGGAATAAGAAGTAAGTCT 0.438000 46 296 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204948557 204948557 + Silent SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:204948557C>A ENST00000367172.4 + 19 2374 c.2046C>A c.(2044-2046)ccC>ccA p.P682P NFASC_ENST00000367169.4_Silent_p.P682P|NFASC_ENST00000338586.6_Silent_p.P682P|NFASC_ENST00000404076.1_Silent_p.P661P|NFASC_ENST00000513543.1_Silent_p.P678P|NFASC_ENST00000360049.4_Silent_p.P678P|NFASC_ENST00000367171.4_Silent_p.P667P|NFASC_ENST00000338515.6_Silent_p.P682P|NFASC_ENST00000539706.1_Silent_p.P678P|NFASC_ENST00000367170.4_Silent_p.P682P|NFASC_ENST00000339876.6_Silent_p.P682P|NFASC_ENST00000401399.1_Silent_p.P682P|NFASC_ENST00000404907.1_Silent_p.P678P O94856 NFASC_HUMAN neurofascin 682 Fibronectin type-III 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding p.P678P(3)|p.P682P(3) NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCAAGTACCCCGGCAGCGTTA 0.572000 38 101 5.04308e-16 5.91346e-16 1 1 0 KEAP1 9817 broad.mit.edu 37 19 10600446 10600446 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:10600446C>T ENST00000171111.5 - 4 1956 c.1409G>A c.(1408-1410)cGt>cAt p.R470H KEAP1_ENST00000393623.2_Missense_Mutation_p.R470H NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 470 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) ATAAAGGAGACGATTGAGGAC 0.562000 9 11 0 0 1 0 0 ISCU 23479 broad.mit.edu 37 12 108957910 108957910 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:108957910G>T ENST00000338291.4 + 2 206 c.18G>T c.(16-18)atG>atT p.M6I ISCU_ENST00000539593.1_Intron|ISCU_ENST00000547005.1_Intron|ISCU_ENST00000392807.4_Missense_Mutation_p.M6I|ISCU_ENST00000535729.1_Intron|ISCU_ENST00000311893.9_Intron|ISCU_ENST00000431221.2_Intron Q9H1K1 ISCU_HUMAN iron-sulfur cluster assembly enzyme 0 iron-sulfur cluster assembly|nitrogen fixation cytosol|mitochondrion|nucleus iron ion binding|iron-sulfur cluster binding|protein complex scaffold p.M6I(1) kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1) 11 TCATTGACATGAGTGTAGACC 0.403000 27 147 1.56738e-10 1.78357e-10 1 1 0 ZNF283 284349 broad.mit.edu 37 19 44351558 44351558 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:44351558G>C ENST00000324461.7 + 7 1102 c.805G>C c.(805-807)Ggg>Cgg p.G269R ZNF283_ENST00000588797.1_Missense_Mutation_p.G130R NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 269 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G269R(1) endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) TAAGGAATGTGGGAAGACCTT 0.403000 22 147 0 0 1 0 0 PI15 51050 broad.mit.edu 37 8 75756265 75756265 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr8:75756265G>A ENST00000260113.2 + 3 502 c.323G>A c.(322-324)tGc>tAc p.C108Y RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.C108Y NM_015886.3 NP_056970.1 O43692 PI15_HUMAN peptidase inhibitor 15 108 extracellular region peptidase inhibitor activity p.C108Y(2) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1) 30 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) GCGGCTACTTGCATTTGGGAC 0.428000 58 213 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 5 29 0.000602214 0.000635212 1 1 0 FANCM 57697 broad.mit.edu 37 14 45606340 45606340 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr14:45606340G>T ENST00000267430.5 + 2 662 c.577G>T c.(577-579)Gtc>Ttc p.V193F FANCM_ENST00000542564.2_Missense_Mutation_p.V193F|FANCM_ENST00000556036.1_Missense_Mutation_p.V193F NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 193 Helicase ATP-binding. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding p.V193F(1) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TACACCTCAGGTCATGGTAAA 0.393000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 18 505 3.08376e-08 3.42476e-08 1 1 0 TEX33 339669 broad.mit.edu 37 22 37387544 37387544 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr22:37387544A>T ENST00000405091.2 - 6 974 c.723T>A c.(721-723)caT>caA p.H241Q TEX33_ENST00000381821.1_Missense_Mutation_p.H241Q|TEX33_ENST00000402860.3_Missense_Mutation_p.H156Q O43247 EAN57_HUMAN testis expressed 33 241 p.H156Q(2) TCTTCCTGCCATGCCAGTGTT 0.542000 158 234 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553584 140553584 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:140553584C>T ENST00000231137.3 + 1 1342 c.1168C>T c.(1168-1170)Ccc>Tcc p.P390S NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 390 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P390S(2) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGACGATGTCCCCTTCATCCT 0.473000 18 20 0 0 1 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38205058 38205058 + Missense_Mutation SNP C C T rs142206759 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr8:38205058C>T ENST00000317025.8 - 2 1149 c.632G>A c.(631-633)cGc>cAc p.R211H WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R211H|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R211H|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.R211H NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 211 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding p.R211H(2) NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) GTGTGACTTGCGCTCTTCAGA 0.353000 T NUP98 AML 81 334 0 0 1 0 0 VPS33A 65082 broad.mit.edu 37 12 122748723 122748723 + Silent SNP T T A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:122748723T>A ENST00000267199.4 - 2 238 c.126A>T c.(124-126)ctA>ctT p.L42L VPS33A_ENST00000451053.2_Silent_p.L42L|VPS33A_ENST00000542310.1_5'UTR|RP11-512M8.5_ENST00000535844.1_Silent_p.L42L NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 42 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding p.L42L(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) AGGGTCCAGTTAGGTATTCAT 0.343000 30 118 0 0 1 0 0 CENPN 55839 broad.mit.edu 37 16 81050942 81050942 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr16:81050942C>G ENST00000305850.5 + 4 1019 c.229C>G c.(229-231)Cat>Gat p.H77D CENPN_ENST00000569461.1_Intron|CENPN_ENST00000428963.2_Missense_Mutation_p.H77D|CENPN_ENST00000393335.3_Missense_Mutation_p.H77D|CENPN_ENST00000439957.3_Intron|RP11-303E16.3_ENST00000562315.1_RNA|CMC2_ENST00000565914.1_Intron|CENPN_ENST00000299572.5_Missense_Mutation_p.H77D NM_001100624.2|NM_001270474.1 NP_001094094.2|NP_001257403.1 Q96H22 CENPN_HUMAN centromere protein N 77 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm p.H77D(3) breast(1)|large_intestine(5)|lung(4) 10 TATGCAATTTCATCAGCACCA 0.333000 46 81 0 0 1 0 0 KRT74 121391 broad.mit.edu 37 12 52967174 52967174 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:52967174C>T ENST00000549343.1 - 1 426 c.388G>A c.(388-390)Gac>Aac p.D130N KRT74_ENST00000305620.2_Missense_Mutation_p.D130N Q7RTS7 K2C74_HUMAN keratin 74 130 Head. keratin filament structural molecule activity p.D130N(2) kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) ATCTCAGGGTCCAGCTCCACG 0.602000 15 111 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 93518680 93518680 + Silent SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr13:93518680C>T ENST00000377067.3 + 8 2079 c.1707C>T c.(1705-1707)ccC>ccT p.P569P NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 569 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.P569P(2) NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TGTTACTTCCCGGGATTTGGT 0.433000 153 388 0 0 1 0 0 TEPP 374739 broad.mit.edu 37 16 58011792 58011792 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr16:58011792G>A ENST00000290871.5 + 2 274 c.237G>A c.(235-237)ctG>ctA p.L79L TEPP_ENST00000441824.2_Silent_p.L79L|TEPP_ENST00000569996.1_Intron NM_199046.2 NP_950247.2 Q6URK8 TEPP_HUMAN testis, prostate and placenta expressed 79 extracellular region p.L79L(1) central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 8 CGGCCATCCTGCTTCCCATGG 0.657000 37 95 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67338379 67338379 + Silent SNP T T C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr16:67338379T>C ENST00000304372.5 - 3 451 c.396A>G c.(394-396)acA>acG p.T132T KCTD19_ENST00000562860.1_Intron NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 132 voltage-gated potassium channel complex voltage-gated potassium channel activity p.T132T(1) endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) TACACTTCCATGTACGCCAGT 0.478000 125 188 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101631628 101631628 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:101631628G>A ENST00000310954.6 - 1 625 c.339C>T c.(337-339)ctC>ctT p.L113L NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 113 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity p.L113L(2) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TGACGGCCAAGAGGCAGTAGT 0.632000 14 12 0 0 1 0 0 SRSF11 9295 broad.mit.edu 37 1 70687463 70687463 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:70687463G>C ENST00000370950.3 + 2 226 c.144G>C c.(142-144)caG>caC p.Q48H SRSF11_ENST00000405432.1_Missense_Mutation_p.Q48H|SRSF11_ENST00000370951.1_Missense_Mutation_p.Q48H|SRSF11_ENST00000436161.2_Missense_Mutation_p.Q48H|SRSF11_ENST00000454435.2_Missense_Mutation_p.Q48H Q05519 SRS11_HUMAN serine/arginine-rich splicing factor 11 48 RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding p.Q48H(2) large_intestine(3)|ovary(2)|skin(1) 6 GCTCTGAGCAGATGCGGACTC 0.647000 57 41 0 0 1 0 0 RETSAT 54884 broad.mit.edu 37 2 85577260 85577260 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:85577260G>A ENST00000295802.4 - 4 814 c.702C>T c.(700-702)ttC>ttT p.F234F RETSAT_ENST00000263854.6_Silent_p.F234F|RETSAT_ENST00000457495.2_Silent_p.F173F NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 234 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity p.L235F(1) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) ATGCTTGAAGGAATGGAGAGA 0.582000 4 54 0 0 1 0 0 HHEX 3087 broad.mit.edu 37 10 94452163 94452163 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr10:94452163C>G ENST00000282728.5 + 2 2199 c.400C>G c.(400-402)Ctg>Gtg p.L134V HHEX_ENST00000472590.2_5'UTR|HHEX_ENST00000492654.2_5'UTR NM_002729.4 NP_002720.1 Q03014 HHEX_HUMAN hematopoietically expressed homeobox 134 anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway cytoplasm|nucleus|protein-DNA complex DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding p.L134V(1) kidney(2)|large_intestine(2)|lung(5)|ovary(1) 10 GCAGAGGCCTCTGCATAAAAG 0.602000 5 5 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072821 17072821 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr22:17072821G>T ENST00000359963.3 - 1 879 c.620C>A c.(619-621)gCg>gAg p.A207E NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 207 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.A207G(1)|p.A207V(1)|p.A207E(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CCCGGGCAGCGCGCACACCCC 0.617000 9 44 0.00621372 0.00646562 1 1 0 PCNT 5116 broad.mit.edu 37 21 47783764 47783764 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr21:47783764G>C ENST00000359568.5 + 14 2631 c.2524G>C c.(2524-2526)Gag>Cag p.E842Q PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 842 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding p.E842*(1)|p.E842K(1)|p.E842Q(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GTGTGGGCGGGAGCCGCCCAC 0.662000 19 26 0 0 1 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328774 88328774 + Silent SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr13:88328774G>T ENST00000325089.6 + 2 1350 c.1131G>T c.(1129-1131)gcG>gcT p.A377A SLITRK5_ENST00000400028.3_Silent_p.A136A NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 377 LRRNT. integral to membrane p.A377A(2) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GTCCCACCGCGTGCTCTTGCA 0.577000 11 23 1.52009e-12 1.75571e-12 1 1 0 RIN3 79890 broad.mit.edu 37 14 93118640 93118640 + Nonsense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr14:93118640C>T ENST00000216487.7 + 6 1405 c.1246C>T c.(1246-1248)Caa>Taa p.Q416* RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 416 Pro-rich. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding p.Q416*(1) endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) CCTGCCTCCCCAAGGGACCTC 0.657000 3 11 0 0 1 0 0 WBSCR28 135886 broad.mit.edu 37 7 73280019 73280019 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr7:73280019C>T ENST00000320531.2 + 3 650 c.614C>T c.(613-615)aCc>aTc p.T205I NM_182504.3 NP_872310.2 Q6UE05 WBS28_HUMAN Williams-Beuren syndrome chromosome region 28 205 integral to membrane breast(2)|kidney(2)|lung(6)|skin(1) 11 Lung NSC(55;0.159) TATCTCATCACCTGGACCACC 0.617000 5 108 0 0 1 0 0 BAZ2A 11176 broad.mit.edu 37 12 56999683 56999683 + Silent SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:56999683C>T ENST00000179765.5 - 14 2533 c.2334G>A c.(2332-2334)cgG>cgA p.R778R BAZ2A_ENST00000379441.3_Silent_p.R780R|BAZ2A_ENST00000551812.1_Silent_p.R810R|BAZ2A_ENST00000549884.1_Silent_p.R808R Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 810 Lys-rich. chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding p.R810R(4)|p.R846R(2) breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 GCTGCCTCTGCCGTTCCTCCA 0.517000 16 13 0 0 1 0 0 IFNL3 282617 broad.mit.edu 37 19 39734751 39734751 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:39734751A>G ENST00000413851.2 - 3 343 c.305T>C c.(304-306)cTg>cCg p.L102P NM_172139.2 NP_742151.2 interferon, lambda 3 p.L102P(1) CAGAACCTTCAGCGTCAGGGC 0.652000 18 40 0 0 1 0 0 FAM43A 131583 broad.mit.edu 37 3 194407563 194407563 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:194407563C>T ENST00000329759.4 + 1 942 c.8C>T c.(7-9)cCg>cTg p.P3L NM_153690.4 NP_710157.2 Q8N2R8 FA43A_HUMAN family with sequence similarity 43, member A 3 p.P3L(1) breast(2)|central_nervous_system(1)|lung(6)|skin(1) 10 all_cancers(143;2.04e-08)|Ovarian(172;0.0634) Lung NSC(153;0.147) OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.78e-05) GAGATGCTGCCGTGGAAGAAG 0.761000 4 4 0 0 1 0 0 LDHC 3948 broad.mit.edu 37 11 18456297 18456297 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:18456297G>C ENST00000541669.1 + 5 540 c.429G>C c.(427-429)ttG>ttC p.L143F LDHC_ENST00000280704.4_Missense_Mutation_p.L143F|LDHC_ENST00000544105.1_Missense_Mutation_p.L143F|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000535809.1_Missense_Mutation_p.L143F|LDHC_ENST00000536880.1_Missense_Mutation_p.L129F|LDHC_ENST00000546146.1_Missense_Mutation_p.L85F P07864 LDHC_HUMAN lactate dehydrogenase C 143 glycolysis cytoplasm binding|L-lactate dehydrogenase activity p.L143F(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 NADH(DB00157) TGGATATTTTGACATATATAG 0.308000 38 237 0 0 1 0 0 CCDC158 339965 broad.mit.edu 37 4 77247123 77247123 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr4:77247123G>C ENST00000388914.3 - 22 3196 c.3044C>G c.(3043-3045)tCt>tGt p.S1015C NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 1015 Ser-rich. p.S1015C(2) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 CTTCTTAGGAGAAGAATTGAA 0.358000 107 450 0 0 1 0 0 NFXL1 152518 broad.mit.edu 37 4 47892633 47892633 + Silent SNP T T G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr4:47892633T>G ENST00000507489.1 - 12 1716 c.1540A>C c.(1540-1542)Aga>Cga p.R514R NFXL1_ENST00000381538.3_Silent_p.R514R|NFXL1_ENST00000329043.3_Silent_p.R514R NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 514 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding p.R514R(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 AGTTTACCTCTGTGACAGACA 0.348000 49 122 0 0 1 0 0 SNAP47 116841 broad.mit.edu 37 1 227946805 227946805 + Missense_Mutation SNP C C T rs143092410 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:227946805C>T ENST00000366759.4 + 3 1156 c.742C>T c.(742-744)Ccc>Tcc p.P248S SNAP47_ENST00000366760.1_Missense_Mutation_p.P6S|SNAP47_ENST00000315781.5_Missense_Mutation_p.P248S NM_053052.3 NP_444280.2 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 248 endomembrane system|membrane|perinuclear region of cytoplasm p.P248S(1) endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CAGTTGTGAACCCTTTGGGAA 0.493000 4 78 0 0 1 0 0 SLC27A1 376497 broad.mit.edu 37 19 17612097 17612097 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:17612097C>A ENST00000252595.7 + 11 1749 c.1652C>A c.(1651-1653)gCa>gAa p.A551E SLC27A1_ENST00000442725.1_Missense_Mutation_p.A551E|SLC27A1_ENST00000598424.1_Missense_Mutation_p.A372E|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598848.1_Intron NM_198580.1 NP_940982.1 Q6PCB7 S27A1_HUMAN solute carrier family 27 (fatty acid transporter), member 1 551 cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding p.A551E(4) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 GAGGGTAAGGCAGGGATGGCG 0.642000 10 7 0.000978159 0.00102707 1 1 0 DCST1 149095 broad.mit.edu 37 1 155015885 155015885 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:155015885G>A ENST00000295542.1 + 10 1168 c.1072G>A c.(1072-1074)Gag>Aag p.E358K DCST1_ENST00000368419.2_Missense_Mutation_p.E358K|DCST1_ENST00000392480.1_Missense_Mutation_p.E358K|DCST1_ENST00000423025.2_Missense_Mutation_p.E333K NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 358 integral to membrane zinc ion binding p.E358K(2) breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CGTGAGCACCGAGGTGCGGGA 0.667000 17 60 0 0 1 0 0 CCDC39 339829 broad.mit.edu 37 3 180372586 180372586 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:180372586C>A ENST00000273654.4 - 13 1765 c.1146G>T c.(1144-1146)caG>caT p.Q382H CCDC39_ENST00000442201.2_Missense_Mutation_p.Q298H Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 298 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton p.Q298H(2)|p.Q382H(2) NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTTCATGGTCCTGATATGCCG 0.343000 38 90 1.07234e-20 1.27686e-20 1 1 0 COL11A1 1301 broad.mit.edu 37 1 103364245 103364245 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:103364245G>A ENST00000358392.2 - 56 4578 c.4261C>T c.(4261-4263)Ctt>Ttt p.L1421F COL11A1_ENST00000512756.1_Missense_Mutation_p.L1293F|COL11A1_ENST00000370096.3_Missense_Mutation_p.L1409F|COL11A1_ENST00000353414.4_Missense_Mutation_p.L1370F NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1409 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.L1409F(2)|p.L1421F(2) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ATGCCCCGAAGACCTTCTGGA 0.453000 17 59 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33632679 33632679 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr6:33632679C>A ENST00000374316.5 + 13 2241 c.1181C>A c.(1180-1182)aCc>aAc p.T394N ITPR3_ENST00000605930.1_Missense_Mutation_p.T394N Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 394 MIR 5. activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding p.T394N(4) NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 CACCTCTGCACCAACACGTGG 0.662000 11 39 0.0242445 0.024891 1 1 0 GALNT11 63917 broad.mit.edu 37 7 151818708 151818708 + Silent SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr7:151818708C>T ENST00000434507.1 + 14 2210 c.1773C>T c.(1771-1773)gtC>gtT p.V591V GALNT11_ENST00000320311.2_Silent_p.V591V|RP5-981O7.2_ENST00000424630.1_RNA|GALNT11_ENST00000452146.2_Silent_p.V510V|GALNT11_ENST00000430044.2_Silent_p.V591V Q8NCW6 GLT11_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 591 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.V591V(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) AGGGCTCTGTCGCCATGGCGA 0.532000 14 55 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5219402 5219402 + Missense_Mutation SNP T T C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:5219402T>C ENST00000372412.4 - 23 4078 c.3845A>G c.(3844-3846)gAg>gGg p.E1282G PTPRS_ENST00000357368.4_Missense_Mutation_p.E1281G|PTPRS_ENST00000587303.1_Missense_Mutation_p.E1281G|PTPRS_ENST00000592099.1_Missense_Mutation_p.E850G|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.E1277G|PTPRS_ENST00000588012.1_Missense_Mutation_p.E1259G|PTPRS_ENST00000348075.2_Missense_Mutation_p.E1259G|PTPRS_ENST00000353284.2_Missense_Mutation_p.E850G Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1281 cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GATAAGCCCCTCCTCGCCATC 0.587000 4 21 0 0 1 0 0 OR56A3 390083 broad.mit.edu 37 11 5969183 5969183 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:5969183C>A ENST00000329564.6 + 1 614 c.607C>A c.(607-609)Caa>Aaa p.Q203K NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q203K(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCACCTTTACCAATTTGCTGG 0.478000 45 392 2.81731e-22 3.40732e-22 1 1 0 MSH2 4436 broad.mit.edu 37 2 47709956 47709956 + Silent SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:47709956G>C ENST00000233146.2 + 16 2896 c.2673G>C c.(2671-2673)gtG>gtC p.V891V MSH2_ENST00000461394.1_Intron|MSH2_ENST00000406134.1_Intron|MSH2_ENST00000543555.1_Silent_p.V825V NM_000251.2 NP_000242.1 P43246 MSH2_HUMAN mutS homolog 2 891 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.V891V(2)|p.0?(2)|p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TGTCCAAGGTGAAACAAATGC 0.313000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 12 37 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62298118 62298118 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:62298118C>A ENST00000378024.4 - 5 4045 c.3771G>T c.(3769-3771)atG>atT p.M1257I AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1257 nervous system development nucleus protein binding p.M1257I(1) 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) TGGGCATTTTCATCTTGGGCA 0.512000 11 358 6.40141e-05 6.87779e-05 1 1 0 PCDHB4 56131 broad.mit.edu 37 5 140503320 140503320 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:140503320G>A ENST00000194152.1 + 1 1740 c.1740G>A c.(1738-1740)gaG>gaA p.E580E NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 580 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.E580E(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGCGGCCGAGCCGGGCTACC 0.697000 5 12 0 0 1 0 0 ID3 3399 broad.mit.edu 37 1 23885762 23885762 + Silent SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:23885762C>T ENST00000374561.5 - 1 523 c.156G>A c.(154-156)cgG>cgA p.R52R ID3_ENST00000486541.1_5'UTR NM_002167.4 NP_002158.3 Q02535 ID3_HUMAN inhibitor of DNA binding 3, dominant negative helix-loop-helix protein 52 Helix-loop-helix motif. negative regulation of sequence-specific DNA binding transcription factor activity transcription corepressor activity p.R52R(2) central_nervous_system(1)|lung(3) 4 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) GTACCAGTTCCCGCAGGCGGG 0.642000 10 25 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152733114 152733114 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:152733114C>G ENST00000368773.1 + 2 1108 c.1050C>G c.(1048-1050)atC>atG p.I350M KPRP_ENST00000606109.1_Missense_Mutation_p.I350M NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 350 Pro-rich. cytoplasm p.I350M(2) NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCTCCCATCAGACGCCGCT 0.652000 11 50 0 0 1 0 0 CES1P1 51716 broad.mit.edu 37 16 55806422 55806422 + RNA SNP T T A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr16:55806422T>A ENST00000571348.1 + 0 724 NR_003276.2 GAGGAGAAAGTGTCTCTGTTC 0.557000 14 34 0 0 1 0 0 PIGM 93183 broad.mit.edu 37 1 160001137 160001137 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:160001137C>G ENST00000368090.2 - 1 646 c.393G>C c.(391-393)tgG>tgC p.W131C NM_145167.2 NP_660150.1 Q9H3S5 PIGM_HUMAN phosphatidylinositol glycan anchor biosynthesis, class M 131 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane p.W131C(2) kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGTTAAGAAGCCAAAAGACAC 0.562000 29 149 0 0 1 0 0 TSSK3 81629 broad.mit.edu 37 1 32829545 32829545 + Silent SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:32829545G>C ENST00000373534.3 + 2 1000 c.495G>C c.(493-495)ctG>ctC p.L165L FAM229A_ENST00000415596.1_Intron NM_052841.3 NP_443073.1 Q96PN8 TSSK3_HUMAN testis-specific serine kinase 3 165 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.L165L(2) NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212) ACCGGGAGCTGAGCCAGACCT 0.572000 33 78 0 0 1 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227472 56227472 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr20:56227472G>A ENST00000341744.3 - 4 820 c.501C>T c.(499-501)ctC>ctT p.L167L PMEPA1_ENST00000265626.4_Silent_p.L117L|PMEPA1_ENST00000395814.1_Silent_p.L117L|PMEPA1_ENST00000395816.3_Silent_p.L117L|PMEPA1_ENST00000347215.4_Silent_p.L132L NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 167 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding p.L167L(1) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 CCCGAAGCTGGAGGGTGCAGG 0.642000 5 48 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144942315 144942315 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr8:144942315C>T ENST00000525985.1 - 2 5178 c.5107G>A c.(5107-5109)Gtg>Atg p.V1703M P58107 EPIPL_HUMAN epiplakin 1 1703 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGGTAGGCCACGTCCACGGGC 0.677000 3 10 0 0 1 0 0 FAM120B 84498 broad.mit.edu 37 6 170627094 170627094 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr6:170627094C>G ENST00000476287.1 + 2 724 c.616C>G c.(616-618)Ctc>Gtc p.L206V FAM120B_ENST00000540480.1_Missense_Mutation_p.L218V|FAM120B_ENST00000537664.1_Missense_Mutation_p.L229V|FAM120B_ENST00000252510.9_Intron NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 206 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.L206V(1) endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) CACCGTCATGCTCTGCAGAGA 0.527000 10 81 0 0 1 0 0 SAP30BP 29115 broad.mit.edu 37 17 73689542 73689542 + Missense_Mutation SNP G G C rs150596591 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:73689542G>C ENST00000584667.1 + 4 544 c.287G>C c.(286-288)cGa>cCa p.R96P SAP30BP_ENST00000355423.3_Missense_Mutation_p.R80P|SAP30BP_ENST00000579864.1_3'UTR NM_013260.6 NP_037392.1 Q9UHR5 S30BP_HUMAN SAP30 binding protein 96 apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.R96P(2) kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1) 17 all_cancers(13;6.42e-08) all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GCAGAAAAGCGAGACCCCCAG 0.552000 11 53 0 0 1 0 0 S1PR1 1901 broad.mit.edu 37 1 101705580 101705580 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:101705580G>T ENST00000305352.6 + 2 1415 c.1040G>T c.(1039-1041)gGc>gTc p.G347V NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 347 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity p.G347V(1) NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 ATCATCGCCGGCATGGAATTC 0.552000 33 129 1.99505e-19 2.36337e-19 1 1 0 INTS2 57508 broad.mit.edu 37 17 59988888 59988888 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:59988888C>G ENST00000444766.3 - 7 1046 c.971G>C c.(970-972)gGa>gCa p.G324A INTS2_ENST00000251334.6_Missense_Mutation_p.G316A NM_020748.2 NP_065799.1 Q9H0H0 INT2_HUMAN integrator complex subunit 2 324 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding p.G324A(2) NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 CACCTGCTGTCCATTTCGGAT 0.388000 44 77 0 0 1 0 0 OSER1 51526 broad.mit.edu 37 20 42831602 42831602 + Splice_Site SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr20:42831602C>A ENST00000372970.2 - 5 370 c.191_splice c.e5+1 p.G64_splice OSER1_ENST00000255174.2_Splice_Site_p.G64_splice oxidative stress responsive serine-rich 1 p.G64W(2) AGCTCTTACCCGTGCCAACTG 0.383000 48 133 3.16986e-14 3.69817e-14 1 1 0 CSPG4 1464 broad.mit.edu 37 15 75981976 75981976 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr15:75981976C>T ENST00000308508.5 - 3 1522 c.1430G>A c.(1429-1431)cGc>cAc p.R477H NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 477 Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity). RH -> HY (in Ref. 1; CAA65529). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity p.R477H(1) breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 CTCGCCATGGCGTGCCCCTCG 0.637000 3 22 0 0 1 0 0 LRCH4 4034 broad.mit.edu 37 7 100179736 100179736 + Silent SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr7:100179736G>T ENST00000310300.6 - 3 472 c.420C>A c.(418-420)gtC>gtA p.V140V LRCH4_ENST00000497245.1_5'UTR NM_002319.3 NP_002310.2 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 140 nervous system development PML body protein binding p.V140V(2) NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGACGATGAGGACCCTCAGGG 0.637000 7 12 1.26484e-09 1.42526e-09 1 1 0 FAM184A 79632 broad.mit.edu 37 6 119345909 119345909 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr6:119345909C>T ENST00000338891.7 - 2 672 c.229G>A c.(229-231)Gaa>Aaa p.E77K FAM184A_ENST00000522284.1_5'UTR|FAM184A_ENST00000521531.1_Missense_Mutation_p.E77K|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_5'UTR|FAM184A_ENST00000368475.4_5'UTR NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 77 p.E77K(2) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 ATTTCTTCTTCATGAGCATCT 0.338000 43 23 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43225669 43225669 + Silent SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr6:43225669C>T ENST00000259750.4 + 10 1064 c.981C>T c.(979-981)ccC>ccT p.P327P TTBK1_ENST00000304139.5_Silent_p.P276P NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 327 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.P327P(1) breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CTACCCCGCCCCAGCAGAACA 0.627000 22 11 0 0 1 0 0 KCNK18 338567 broad.mit.edu 37 10 118969302 118969302 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr10:118969302C>A ENST00000334549.1 + 3 647 c.647C>A c.(646-648)aCa>aAa p.T216K NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 216 integral to membrane|plasma membrane p.T216K(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) AAACTTGGCACATGTCCTTCA 0.527000 14 42 7.05477e-17 8.31455e-17 1 1 0 EXPH5 23086 broad.mit.edu 37 11 108380461 108380461 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:108380461C>T ENST00000265843.4 - 6 5883 c.5773G>A c.(5773-5775)Gat>Aat p.D1925N EXPH5_ENST00000428840.1_Missense_Mutation_p.D1849N|EXPH5_ENST00000525344.1_Missense_Mutation_p.D1918N|EXPH5_ENST00000443411.1_Missense_Mutation_p.D1737N NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1925 intracellular protein transport Rab GTPase binding p.D1925N(2) breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTCCTCAAATCATCTTTTAGG 0.408000 20 55 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233134066 233134066 + Missense_Mutation SNP T T C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:233134066T>C ENST00000258229.8 - 32 5956 c.5722A>G c.(5722-5724)Agc>Ggc p.S1908G PCNXL2_ENST00000344698.2_Missense_Mutation_p.S560G NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1908 integral to membrane p.S1908G(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) TGTTCTGCGCTGCTCTCCTGG 0.632000 6 43 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22154332 22154332 + Silent SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:22154332G>T ENST00000397126.4 - 4 3652 c.3504C>A c.(3502-3504)ccC>ccA p.P1168P ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.P1040P(4)|p.P1168P(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CACATTTGTAGGGTTTCTCTA 0.363000 29 32 7.16026e-08 7.91397e-08 1 1 0 OR4C11 219429 broad.mit.edu 37 11 55371624 55371624 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:55371624C>A ENST00000302231.4 - 1 250 c.226G>T c.(226-228)Gcc>Tcc p.A76S NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A76S(2) endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 AATCTAGGGGCTGTGGAAGTT 0.398000 97 48 8.62921e-31 1.06596e-30 1 1 0 LSMD1 84316 broad.mit.edu 37 17 7760666 7760666 + Missense_Mutation SNP T T A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:7760666T>A ENST00000333775.5 - 1 506 c.76A>T c.(76-78)Agt>Tgt p.S26C LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000575208.1_Intron|LSMD1_ENST00000575771.1_Intron|LSMD1_ENST00000575071.1_Intron|LSMD1_ENST00000335155.5_Intron NM_032356.3 NP_115732.2 Q9BRA0 LSMD1_HUMAN LSM domain containing 1 0 cytoplasm|nucleus endometrium(1)|lung(2)|ovary(1) 4 all_cancers(10;0.11)|Prostate(122;0.219) GCTGCTTGACTGCCCCTCAGT 0.652000 5 7 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431299 140431299 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:140431299G>C ENST00000306549.3 + 1 321 c.244G>C c.(244-246)Gga>Cga p.G82R NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 82 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G82R(2) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGCAAGACGGGAGATTTGTT 0.572000 24 81 0 0 1 0 0 JADE3 9767 broad.mit.edu 37 X 46913983 46913983 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chrX:46913983C>T ENST00000218343.4 + 9 1694 c.1396C>T c.(1396-1398)Cac>Tac p.H466Y PHF16_ENST00000397189.1_Missense_Mutation_p.H466Y NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 466 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding p.H466Y(2) NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 GGAAAGCATTCACACTCGAAT 0.453000 27 24 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171083381 171083381 + Missense_Mutation SNP A A C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:171083381A>C ENST00000367755.4 + 7 1173 c.1062A>C c.(1060-1062)aaA>aaC p.K354N FMO3_ENST00000538429.1_Missense_Mutation_p.K291N|FMO3_ENST00000542847.1_Missense_Mutation_p.K334N|FMO3_ENST00000392085.2_Missense_Mutation_p.K354N NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 354 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity p.K354N(2) endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTTTATTTAAAGGAGTATTTC 0.443000 65 189 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5827176 5827176 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chrX:5827176C>A ENST00000381095.3 - 4 1357 c.730G>T c.(730-732)Gac>Tac p.D244Y NLGN4X_ENST00000381092.1_Missense_Mutation_p.D244Y|NLGN4X_ENST00000538097.1_Missense_Mutation_p.D244Y|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D264Y|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D244Y NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 244 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.D244F(1)|p.D244Y(1) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 CTCTTGGGGTCCCCGCCAAAG 0.567000 10 37 5.16669e-11 5.93783e-11 1 1 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74622174 74622174 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:74622174G>A ENST00000156626.7 - 7 1618 c.1419C>T c.(1417-1419)caC>caT p.H473H NM_018414.3 NP_060884.1 Q9NSC7 SIA7A_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 473 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity p.H473H(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 CCTGGGGTCTGTGCCTGTGGT 0.547000 44 119 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186678562 186678562 + Silent SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:186678562G>C ENST00000343098.5 + 18 20385 c.20385G>C c.(20383-20385)acG>acC p.T6795T FSIP2_ENST00000424728.1_Silent_p.T6706T NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 p.T1404T(4) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CACTAAGCACGAGCAGCCTGA 0.358000 57 57 0 0 1 0 0 USP42 84132 broad.mit.edu 37 7 6189291 6189291 + Silent SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr7:6189291C>T ENST00000306177.5 + 13 1622 c.1464C>T c.(1462-1464)tcC>tcT p.S488S NM_032172.2 NP_115548.1 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 488 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity p.S616S(1)|p.S488S(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 35 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) ACGGGAATTCCAGTGTCAACA 0.463000 43 111 0 0 1 0 0 ZNF141 7700 broad.mit.edu 37 4 367007 367007 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr4:367007G>A ENST00000240499.7 + 4 930 c.781G>A c.(781-783)Ggc>Agc p.G261S ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron NM_003441.2 NP_003432.1 Q15928 ZN141_HUMAN zinc finger protein 141 261 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding p.G261S(2) breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 18 TGAAGAATGTGGCAAAGCCTT 0.368000 70 79 0 0 1 0 0 SAA2 6289 broad.mit.edu 37 11 18266989 18266989 + Missense_Mutation SNP T T C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:18266989T>C ENST00000526900.1 - 4 487 c.304A>G c.(304-306)Aaa>Gaa p.K102E SAA2_ENST00000414546.2_Intron|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000529528.1_Missense_Mutation_p.K102E|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000530400.1_Intron|SAA2_ENST00000256733.4_Missense_Mutation_p.K102E serum amyloid A2 p.K102E(2) central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1) 6 CTGCCCCATTTATTGGCAGCC 0.572000 7 105 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55451720 55451720 + Missense_Mutation SNP C C T rs61746625 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:55451720C>T ENST00000588756.1 - 6 953 c.467G>A c.(466-468)cGg>cAg p.R156Q NLRP7_ENST00000448121.2_Missense_Mutation_p.R156Q|NLRP7_ENST00000328092.5_Missense_Mutation_p.R156Q|NLRP7_ENST00000340844.2_Missense_Mutation_p.R156Q|NLRP7_ENST00000592784.1_Missense_Mutation_p.R156Q|NLRP7_ENST00000590030.1_Missense_Mutation_p.R156Q|NLRP7_ENST00000446217.1_Missense_Mutation_p.R184Q Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 156 ATP binding p.R156Q(2) autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TGGAATGAACCGTTGGTTTCT 0.502000 10 320 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53092797 53092797 + Silent SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr8:53092797C>T ENST00000276480.7 - 9 845 c.162G>A c.(160-162)agG>agA p.R54R NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 54 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GCAGGGATTTCCTTTTGTTGA 0.488000 8 133 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175049473 175049473 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:175049473G>T ENST00000239462.4 + 4 1072 c.959G>T c.(958-960)gGt>gTt p.G320V NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 320 Fibronectin type-III 1. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix p.G320V(2) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GAGATTCTTGGTTTGCTGCCT 0.537000 13 54 0.000308642 0.000327047 1 1 0 SOX7 83595 broad.mit.edu 37 8 10583367 10583367 + Missense_Mutation SNP C C A rs147348948 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr8:10583367C>A ENST00000304501.1 - 2 1126 c.1048G>T c.(1048-1050)Gcc>Tcc p.A350S SOX7_ENST00000553390.1_Missense_Mutation_p.A402S|SOX7_ENST00000554914.1_Missense_Mutation_p.A402S NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 350 Sox C-terminal. endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) CCACTGAGGGCCATGGCCCCT 0.597000 3 30 0.115264 0.117814 1 1 0 MROH7 374977 broad.mit.edu 37 1 55175634 55175634 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:55175634G>A ENST00000421030.2 + 24 4031 c.3746G>A c.(3745-3747)aGa>aAa p.R1249K MROH7_ENST00000409996.1_Missense_Mutation_p.R817K|MROH7_ENST00000454855.2_Missense_Mutation_p.R767K|MROH7_ENST00000414150.2_Intron NM_001039464.2 NP_001034553.2 maestro heat-like repeat family member 7 p.R1246K(2)|p.R1249K(2) GATAACTTGAGACATGACCCA 0.572000 19 93 0 0 1 0 0 ZNF852 285346 broad.mit.edu 37 3 44541963 44541963 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:44541963G>A ENST00000436261.1 - 4 466 c.306C>T c.(304-306)ccC>ccT p.P102P ZNF852_ENST00000489411.1_5'UTR B6EU87 B6EU87_HUMAN zinc finger protein 852 102 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.P102P(4)|p.P52P(2) endometrium(2)|kidney(1)|lung(5) 8 CTTCATTTGAGGGTTGTCCTT 0.408000 20 19 0 0 1 0 0 PLEKHO2 80301 broad.mit.edu 37 15 65152098 65152098 + Silent SNP C C T rs28503503 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr15:65152098C>T ENST00000323544.4 + 4 413 c.285C>T c.(283-285)agC>agT p.S95S AC069368.3_ENST00000437723.1_Silent_p.S95S NM_001195059.1|NM_025201.4 NP_001181988.1|NP_079477.2 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O member 2 95 PH. NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 CACAGGTCAGCGACATCAAAT 0.483000 11 291 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 64045267 64045267 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr15:64045267C>A ENST00000443617.2 - 8 1879 c.1792G>T c.(1792-1794)Gat>Tat p.D598Y NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 598 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity p.D598Y(4) NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CTGTTGGTATCACCATGACCA 0.343000 18 79 0.006122 0.00639902 1 1 0 MYH2 4620 broad.mit.edu 37 17 10429161 10429161 + Missense_Mutation SNP T T A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:10429161T>A ENST00000245503.5 - 31 4604 c.4220A>T c.(4219-4221)gAg>gTg p.E1407V CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1407V|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1407 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TACATGTTCCTCAGCTGCCTG 0.483000 4 79 0 0 1 0 0 C9orf131 138724 broad.mit.edu 37 9 35042966 35042966 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr9:35042966C>A ENST00000312292.5 + 2 387 c.340C>A c.(340-342)Ctg>Atg p.L114M C9orf131_ENST00000421362.2_Missense_Mutation_p.L66M|C9orf131_ENST00000354479.5_Missense_Mutation_p.L41M NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 114 p.L114M(2) cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) cgaggCATCTCTGGATCCACT 0.557000 58 55 9.40535e-28 1.14954e-27 1 1 0 SHKBP1 92799 broad.mit.edu 37 19 41086690 41086690 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:41086690G>T ENST00000291842.5 + 9 741 c.692G>T c.(691-693)aGc>aTc p.S231I SHKBP1_ENST00000600733.1_Missense_Mutation_p.S231I NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 231 voltage-gated potassium channel complex voltage-gated potassium channel activity p.S231I(1) breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GTGTTTTCCAGCCCCCGCCTG 0.632000 30 62 1.49673e-21 1.80076e-21 1 1 0 ATMIN 23300 broad.mit.edu 37 16 81069732 81069732 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr16:81069732G>T ENST00000299575.4 + 1 281 c.257G>T c.(256-258)tGc>tTc p.C86F NM_015251.2 NP_056066.2 O43313 ATMIN_HUMAN ATM interactor 86 response to DNA damage stimulus nucleus zinc ion binding p.C86F(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 AACATCCTGTGCACCGTGCGC 0.736000 3 8 0.00909568 0.00942198 1 1 0 TP53 7157 broad.mit.edu 37 17 7578433 7578433 + Nonsense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:7578433G>C ENST00000420246.2 - 5 629 c.497C>G c.(496-498)tCa>tGa p.S166* TP53_ENST00000269305.4_Nonsense_Mutation_p.S166*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S166*|TP53_ENST00000455263.2_Nonsense_Mutation_p.S166*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Nonsense_Mutation_p.S166*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S166* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 166 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. S -> A (in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S166*(25)|p.0?(8)|p.S166L(4)|p.Q167fs*14(4)|p.S34*(2)|p.S73*(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CATGTGCTGTGACTGCTTGTA 0.632000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 74 77 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186277527 186277527 + Silent SNP T T C rs75928540 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:186277527T>C ENST00000445192.2 + 7 2721 c.2676T>C c.(2674-2676)agT>agC p.S892S PRG4_ENST00000367485.4_Silent_p.S799S|PRG4_ENST00000367484.3_Silent_p.S421S|PRG4_ENST00000367483.4_Silent_p.S851S|PRG4_ENST00000367486.3_Silent_p.S849S NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 892 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.S892S(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 TTGAAAACAGTCCCAAGGAAC 0.458000 4 40 0 0 1 0 0 KLHL25 64410 broad.mit.edu 37 15 86311732 86311732 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr15:86311732G>T ENST00000337975.5 - 2 1584 c.1310C>A c.(1309-1311)gCc>gAc p.A437D KLHL25_ENST00000536947.1_Missense_Mutation_p.A437D|KLHL25_ENST00000559131.1_Intron NM_022480.3 NP_071925.2 Q9H0H3 ENC2_HUMAN kelch-like family member 25 437 cytoplasm p.A437D(2) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 25 CACCACTGCGGCATTGCTGAC 0.587000 11 55 7.93312e-07 8.68508e-07 1 1 0 MED1 5469 broad.mit.edu 37 17 37564674 37564674 + Missense_Mutation SNP G G A rs138417070 by1000genomes TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:37564674G>A ENST00000300651.6 - 17 4023 c.3800C>T c.(3799-3801)aCg>aTg p.T1267M MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 1267 Interaction with TP53.|Ser-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.T1267M(2) NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) GGAAGATGCCGTACAGGAATT 0.478000 HNSCC(31;0.082) 5 84 0 0 1 0 0 C1orf222 339457 broad.mit.edu 37 1 1920356 1920356 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:1920356C>T ENST00000434971.2 - 3 156 c.124G>A c.(124-126)Gag>Aag p.E42K Q69YW0 CA222_HUMAN chromosome 1 open reading frame 222 0 p.E42K(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1) 11 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) ACGTCATCCTCAGCTTCCTGT 0.532000 3 23 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128366435 128366435 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:128366435G>A ENST00000389524.4 + 22 2849 c.2796G>A c.(2794-2796)caG>caA p.Q932Q MYO7B_ENST00000409816.2_Silent_p.Q932Q|MYO7B_ENST00000428314.1_Silent_p.Q932Q Q6PIF6 MYO7B_HUMAN myosin VIIB 932 apical plasma membrane|myosin complex actin binding|ATP binding|motor activity p.Q932Q(4) breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) AGGAGGGCCAGGCCTCGCCGC 0.622000 5 9 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123599915 123599915 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr7:123599915G>A ENST00000340011.5 + 5 1779 c.1422G>A c.(1420-1422)gaG>gaA p.E474E SPAM1_ENST00000223028.7_Silent_p.E474E|SPAM1_ENST00000460182.1_Silent_p.E474E|SPAM1_ENST00000402183.2_Silent_p.E474E|SPAM1_ENST00000439500.1_Silent_p.E474E NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 474 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 p.E474E(4) 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) CTCCCATGGAGACAGAAGAAC 0.383000 59 142 0 0 1 0 0 LOC399815 399815 broad.mit.edu 37 10 124648206 124648206 + RNA SNP C C T rs11248323 by1000genomes TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr10:124648206C>T ENST00000425266.1 + 0 258 CAGGAAAACACCACCAAGCCT 0.398000 4 77 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163253285 163253285 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:163253285C>G ENST00000332142.5 - 11 2677 c.2578G>C c.(2578-2580)Gag>Cag p.E860Q NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 860 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.E860Q(2) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) AAAGTCAACTCTAGGTTTGTT 0.363000 79 61 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57080108 57080108 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:57080108A>G ENST00000532437.1 - 4 2365 c.2054T>C c.(2053-2055)cTg>cCg p.L685P TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.L685P Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 685 Acidic.|Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding p.L685P(2) breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) GAGGTCGTCCAGCCAGCGGGA 0.647000 4 14 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66933233 66933233 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:66933233C>G ENST00000269080.2 - 4 462 c.325G>C c.(325-327)Gat>Cat p.D109H ABCA8_ENST00000586539.1_Missense_Mutation_p.D109H|ABCA8_ENST00000430352.2_Missense_Mutation_p.D109H NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 109 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.D109H(2) breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) CTTTCCTCATCTGGCAGTCCC 0.338000 56 78 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86305044 86305044 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:86305044C>T ENST00000263857.6 - 11 1696 c.1318G>A c.(1318-1320)Gct>Act p.A440T POLR1A_ENST00000409681.1_Missense_Mutation_p.A440T O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 440 YA -> ST (in Ref. 1; AAC99959). termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding p.A440T(2) NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GAGCGCGCAGCGTAGTCCACT 0.453000 77 407 0 0 1 0 0 SLC35A1 10559 broad.mit.edu 37 6 88218187 88218187 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr6:88218187G>A ENST00000369552.4 + 6 651 c.624G>A c.(622-624)gtG>gtA p.V208V SLC35A1_ENST00000369557.5_Intron|SLC35A1_ENST00000544441.1_Silent_p.V74V|SLC35A1_ENST00000369556.3_Intron|SLC35A1_ENST00000464978.1_3'UTR|C6orf165_ENST00000506888.1_3'UTR NM_006416.4 NP_006407.1 P78382 S35A1_HUMAN solute carrier family 35 (CMP-sialic acid transporter), member A1 208 carbohydrate metabolic process|protein modification process Golgi membrane|integral to plasma membrane CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity p.V208V(2) breast(1)|kidney(3)|large_intestine(2)|lung(3) 9 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0429) CTCTTTGGGTGAGAAACATTC 0.294000 28 42 0 0 1 0 0 SFTPC 6440 broad.mit.edu 37 8 22019351 22019351 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr8:22019351G>A ENST00000521315.1 + 1 42 c.10G>A c.(10-12)Ggc>Agc p.G4S SFTPC_ENST00000520605.1_Missense_Mutation_p.G4S|SFTPC_ENST00000437090.2_Missense_Mutation_p.G4S|SFTPC_ENST00000524255.1_Missense_Mutation_p.G4S|SFTPC_ENST00000522109.1_Missense_Mutation_p.G4S|SFTPC_ENST00000318561.3_Missense_Mutation_p.G4S P11686 PSPC_HUMAN surfactant protein C 4 respiratory gaseous exchange extracellular space p.G4S(1) autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GATGGATGTGGGCAGCAAAGA 0.587000 3 30 0 0 1 0 0 ZNF566 84924 broad.mit.edu 37 19 36967453 36967453 + Nonsense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:36967453G>A ENST00000454319.1 - 2 141 c.7C>T c.(7-9)Cag>Tag p.Q3* ZNF566_ENST00000424129.2_Nonsense_Mutation_p.Q3*|ZNF566_ENST00000434377.2_Nonsense_Mutation_p.Q3*|ZNF566_ENST00000392170.2_Nonsense_Mutation_p.Q3*|ZNF566_ENST00000493391.1_5'UTR|ZNF566_ENST00000472909.2_5'UTR NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q3*(2) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) TATCTCACCTGAGCCATGGCT 0.398000 23 121 0 0 1 0 0 PI15 51050 broad.mit.edu 37 8 75756266 75756266 + Silent SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr8:75756266C>T ENST00000260113.2 + 3 503 c.324C>T c.(322-324)tgC>tgT p.C108C RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Silent_p.C108C NM_015886.3 NP_056970.1 O43692 PI15_HUMAN peptidase inhibitor 15 108 extracellular region peptidase inhibitor activity p.C108Y(2) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1) 30 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) CGGCTACTTGCATTTGGGACC 0.433000 57 214 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170148767 170148767 + Silent SNP T T A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:170148767T>A ENST00000263816.3 - 7 1050 c.765A>T c.(763-765)ggA>ggT p.G255G LRP2_ENST00000443831.1_Silent_p.G255G NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 255 LDL-receptor class A 6. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.G255G(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CCTTACCACATCCATCTTCAT 0.418000 53 267 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 139894884 139894884 + Silent SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:139894884C>T ENST00000458420.3 + 2 391 c.201C>T c.(199-201)gcC>gcT p.A67A NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 67 Cadherin 1. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding p.A67A(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CACTGGTAGCCCTGGATAAAG 0.468000 HNSCC(16;0.037) 36 218 0 0 1 0 0 ZRSR1 7310 broad.mit.edu 37 5 112227939 112227939 + Silent SNP T T C rs712666 by1000genomes TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:112227939T>C ENST00000391338.1 + 1 627 c.603T>C c.(601-603)tcT>tcC p.S201S SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000379638.4_Intron NM_001204199.1 NP_001191128.1 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 p.S201S(1) breast(1)|skin(1)|stomach(2) 4 TCCCAACATCTAGTCCTACCC 0.453000 16 227 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28211923 28211923 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr15:28211923A>T ENST00000354638.3 - 15 1704 c.1549T>A c.(1549-1551)Tgc>Agc p.C517S OCA2_ENST00000353809.5_Missense_Mutation_p.C493S|OCA2_ENST00000382996.2_Missense_Mutation_p.C517S NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 517 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding p.C517S(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AGAACAAGGCAAATCCCAATG 0.493000 Oculocutaneous Albinism 29 50 0 0 1 0 0 EPRS 2058 broad.mit.edu 37 1 220170591 220170591 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:220170591C>A ENST00000366923.3 - 18 2544 c.2275G>T c.(2275-2277)Gtt>Ttt p.V759F EPRS_ENST00000464052.1_5'UTR NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 759 Glutamyl-tRNA synthetase.|WHEP-TRS 1. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding p.V759F(1) breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TCTCCTTGAACAGCCACTCTA 0.388000 56 96 1.79293e-35 2.23874e-35 1 1 0 RASAL1 8437 broad.mit.edu 37 12 113559391 113559391 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:113559391C>G ENST00000546530.1 - 6 636 c.351G>C c.(349-351)caG>caC p.Q117H RASAL1_ENST00000446861.3_Missense_Mutation_p.Q117H|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Missense_Mutation_p.Q117H|RASAL1_ENST00000548055.1_Missense_Mutation_p.Q117H NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 117 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity p.Q117H(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 AGATCTCACCCTGCACTTCTG 0.562000 70 64 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28202874 28202874 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr15:28202874C>A ENST00000354638.3 - 16 1799 c.1644G>T c.(1642-1644)aaG>aaT p.K548N OCA2_ENST00000353809.5_Missense_Mutation_p.K524N|OCA2_ENST00000382996.2_Missense_Mutation_p.K548N NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 548 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding p.K548N(2)|p.K548K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GAATCTCGTGCTTCAGTTCTG 0.612000 Oculocutaneous Albinism 22 54 2.79863e-10 3.16904e-10 1 1 0 EPRS 2058 broad.mit.edu 37 1 220156531 220156531 + Splice_Site SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:220156531C>T ENST00000366923.3 - 22 3569 c.3300_splice c.e22+1 p.E1100_splice NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 1100 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding p.E1100E(1) breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) GCTCACTTACCTCTGGGGCAA 0.343000 54 109 0 0 1 0 0 HNRNPC 3183 broad.mit.edu 37 14 21699132 21699132 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr14:21699132G>A ENST00000320084.7 - 3 580 c.341C>T c.(340-342)cCg>cTg p.P114L HNRNPC_ENST00000420743.2_Missense_Mutation_p.P114L|HNRNPC_ENST00000556897.1_Intron|HNRNPC_ENST00000557201.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000553300.1_Intron|HNRNPC_ENST00000449098.1_Intron|HNRNPC_ENST00000556513.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000555883.1_Intron|HNRNPC_ENST00000430246.2_Intron|HNRNPC_ENST00000555914.1_Intron|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000556142.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000336053.6_Intron|HNRNPC_ENST00000554455.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000553753.1_Intron|HNRNPC_ENST00000554969.1_Intron|HNRNPC_ENST00000555309.1_Missense_Mutation_p.P114L NM_001077442.1 NP_001070910.1 P07910 HNRPC_HUMAN heterogeneous nuclear ribonucleoprotein C (C1/C2) 114 catalytic step 2 spliceosome|nucleoplasm identical protein binding|nucleotide binding|RNA binding p.P114L(1) breast(1)|liver(1)|lung(6)|skin(1) 9 all_cancers(95;0.00176) Epithelial(56;1.08e-06)|all cancers(55;8.95e-06) GBM - Glioblastoma multiforme(265;0.00783) TAGAGGGGACGGAGAAGGGTG 0.478000 17 247 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73458031 73458031 + Missense_Mutation SNP T T C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr9:73458031T>C ENST00000377110.2 - 5 932 c.689A>G c.(688-690)cAt>cGt p.H230R TRPM3_ENST00000377097.3_Missense_Mutation_p.H77R|TRPM3_ENST00000423814.3_Missense_Mutation_p.H232R|TRPM3_ENST00000358082.3_Missense_Mutation_p.H77R|TRPM3_ENST00000377105.1_Missense_Mutation_p.H77R|TRPM3_ENST00000408909.2_Missense_Mutation_p.H77R|TRPM3_ENST00000396280.5_Missense_Mutation_p.H77R|TRPM3_ENST00000377111.2_Missense_Mutation_p.H230R|TRPM3_ENST00000396283.1_Missense_Mutation_p.H77R|TRPM3_ENST00000361823.5_Missense_Mutation_p.H77R|TRPM3_ENST00000396285.1_Missense_Mutation_p.H77R|TRPM3_ENST00000360823.2_Missense_Mutation_p.H77R|TRPM3_ENST00000396292.4_Missense_Mutation_p.H77R|TRPM3_ENST00000377106.1_Missense_Mutation_p.H77R|TRPM3_ENST00000357533.2_Missense_Mutation_p.H232R|TRPM3_ENST00000377101.1_Missense_Mutation_p.H77R NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 230 integral to membrane calcium channel activity p.H77R(1)|p.H232R(1)|p.H230R(1) NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 ATCGCCAACATGACGAATAAC 0.403000 6 61 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81601108 81601108 + Missense_Mutation SNP C C T rs78086631 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr7:81601108C>T ENST00000356860.3 - 26 2464 c.2126G>A c.(2125-2127)aGt>aAt p.S709N CACNA2D1_ENST00000356253.5_Missense_Mutation_p.S721N NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 721 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TTTCTGCTTACTCCAGTAATT 0.308000 4 80 0 0 1 0 0 RTBDN 83546 broad.mit.edu 37 19 12939476 12939476 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:12939476C>T ENST00000393233.2 - 5 785 c.236G>A c.(235-237)aGg>aAg p.R79K RTBDN_ENST00000458671.2_Silent_p.Q120Q|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000322912.5_Silent_p.Q152Q|RTBDN_ENST00000589272.1_Silent_p.Q152Q|RTBDN_ENST00000592204.1_Silent_p.Q130Q NM_001270440.1 NP_001257369.1 Q9BSG5 RTBDN_HUMAN retbindin 0 extracellular region p.Q152Q(1) kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12 CCTACCAGGCCTGGCAGAGCT 0.647000 4 13 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77847609 77847609 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr13:77847609G>C ENST00000407578.2 - 5 1209 c.943C>G c.(943-945)Cag>Gag p.Q315E MYCBP2_ENST00000357337.6_Missense_Mutation_p.Q277E|MYCBP2_ENST00000544440.2_Missense_Mutation_p.Q277E|MYCBP2_ENST00000360084.5_5'UTR NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 277 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding p.Q277E(4)|p.Q315E(2) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TGAAATACCTGAATAGTTTGG 0.398000 34 152 0 0 1 0 0 TCERG1 10915 broad.mit.edu 37 5 145838656 145838656 + Silent SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:145838656G>A ENST00000296702.5 + 4 686 c.648G>A c.(646-648)caG>caA p.Q216Q TCERG1_ENST00000394421.2_Silent_p.Q216Q NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 216 Ala/Gln-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) cccaggcccaggcccaggccc 0.731000 2 4 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58156414 58156414 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:58156414G>T ENST00000295956.4 + 46 7899 c.7734G>T c.(7732-7734)agG>agT p.R2578S FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000493452.1_Missense_Mutation_p.R2385S|FLNB_ENST00000490882.1_Missense_Mutation_p.R2609S|FLNB_ENST00000429972.2_Missense_Mutation_p.R2567S|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000419752.2_Missense_Mutation_p.R2398S|FLNB_ENST00000358537.3_Missense_Mutation_p.R2554S|FLNB_ENST00000348383.5_Missense_Mutation_p.R2537S NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 2578 Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail (By similarity). actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding p.R2609S(1)|p.R2578S(1) NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) TCAAGGAGAGGGGCGATTATG 0.547000 4 85 1 1 1 1 0 DRD2 1813 broad.mit.edu 37 11 113286252 113286252 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:113286252G>T ENST00000362072.3 - 5 958 c.614C>A c.(613-615)aCc>aAc p.T205N DRD2_ENST00000544518.1_Missense_Mutation_p.T204N|DRD2_ENST00000542968.1_Missense_Mutation_p.T205N|DRD2_ENST00000538967.1_Missense_Mutation_p.T205N|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000355319.2_Missense_Mutation_p.T205N|DRD2_ENST00000346454.3_Missense_Mutation_p.T205N NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 205 activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding p.T205N(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) GACCAGCAGGGTGACAATGAA 0.592000 58 134 1.64573e-32 2.04389e-32 1 1 0 TOMM70A 9868 broad.mit.edu 37 3 100100548 100100548 + Silent SNP C C A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:100100548C>A ENST00000284320.5 - 5 1243 c.795G>T c.(793-795)acG>acT p.T265T NM_014820.4 NP_055635.3 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) 265 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity p.T265T(2) endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 32 TGATATCATCCGTGAAAGAAC 0.378000 70 168 3.4779e-39 4.36627e-39 1 1 0 SEZ6L 23544 broad.mit.edu 37 22 26747039 26747039 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr22:26747039G>T ENST00000529632.2 + 12 2625 c.2429G>T c.(2428-2430)gGa>gTa p.G810V SEZ6L_ENST00000248933.6_Missense_Mutation_p.G810V|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G583V|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G810V|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G583V|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000411842.2_Missense_Mutation_p.G7V|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G810V NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 810 Sushi 4. endoplasmic reticulum membrane|integral to membrane p.G810V(2) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 ACCGACCCCGGAGAGGTGGAT 0.527000 21 97 3.28513e-13 3.81339e-13 1 1 0 CEP57 9702 broad.mit.edu 37 11 95546154 95546154 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:95546154G>C ENST00000325542.5 + 3 499 c.261G>C c.(259-261)agG>agC p.R87S CEP57_ENST00000536587.1_3'UTR|CEP57_ENST00000541150.1_Missense_Mutation_p.R78S|CEP57_ENST00000325486.5_Missense_Mutation_p.R87S|CEP57_ENST00000538658.1_Missense_Mutation_p.R87S|CEP57_ENST00000537677.1_Missense_Mutation_p.R60S NM_001243776.1|NM_014679.4 NP_001230705.1|NP_055494.2 Q86XR8 CEP57_HUMAN centrosomal protein 57kDa 87 centrosome localization domain (CLD) (By similarity). fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development centrosome|cytosol|Golgi apparatus|microtubule|nucleus fibroblast growth factor binding|protein homodimerization activity p.R87S(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AACTTGAGAGGATTCAGGCAG 0.368000 Mosaic Variegated Aneuploidy Syndrome 25 151 0 0 1 0 0 PIGG 54872 broad.mit.edu 37 4 515659 515659 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr4:515659G>C ENST00000453061.2 + 8 1649 c.1543G>C c.(1543-1545)Gcc>Ccc p.A515P PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000504346.1_Missense_Mutation_p.A426P|PIGG_ENST00000383028.4_Missense_Mutation_p.A382P|PIGG_ENST00000310340.5_Missense_Mutation_p.A507P|PIGG_ENST00000509768.1_Missense_Mutation_p.A426P|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000536264.1_3'UTR NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 515 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity p.A507P(2) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 GATGGTGCTGGCCTCGGCGCT 0.587000 21 58 0 0 1 0 0 GAL3ST4 79690 broad.mit.edu 37 7 99757573 99757573 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr7:99757573G>A ENST00000360039.4 - 4 1831 c.1439C>T c.(1438-1440)aCt>aTt p.T480I GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.T480I|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.T418I NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 480 cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGGCCTTGAAGTCTTGAGGGG 0.547000 6 73 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237995884 237995884 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:237995884G>T ENST00000366574.2 + 105 15158 c.14841G>T c.(14839-14841)agG>agT p.R4947S RYR2_ENST00000360064.6_Missense_Mutation_p.R4953S|RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.R4931S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4947 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 p.R4945S(2) 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) ATCAAGAAAGGTGTTGGGAAT 0.388000 48 110 9.40535e-28 1.14954e-27 1 1 0 TTC16 158248 broad.mit.edu 37 9 130479208 130479208 + Missense_Mutation SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr9:130479208T>A ENST00000373289.3 + 2 184 c.104T>A c.(103-105)aTc>aAc p.I35N PTRH1_ENST00000419060.1_5'UTR|TTC16_ENST00000393748.4_Intron|PTRH1_ENST00000429848.1_Intron NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 35 binding p.I35N(1) central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 CTGCAGCACATCTTTGGGACC 0.542000 48 35 0 0 0.014410 0 0 LIG3 3980 broad.mit.edu 37 17 33329065 33329065 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:33329065G>A ENST00000378526.4 + 18 2749 c.2616G>A c.(2614-2616)aaG>aaA p.K872K LIG3_ENST00000262327.5_Silent_p.K872K NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 872 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding p.K872K(1)|p.K785K(1) endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) CCCCCAGCAAGCCCTCAGCCA 0.572000 Other BER factors 9 103 0 0 0.004482 0 0 RMND5B 64777 broad.mit.edu 37 5 177570722 177570722 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:177570722C>T ENST00000515098.1 + 7 872 c.521C>T c.(520-522)gCg>gTg p.A174V RMND5B_ENST00000313386.4_Missense_Mutation_p.A174V|RMND5B_ENST00000542098.1_Missense_Mutation_p.A161V Q96G75 RMD5B_HUMAN required for meiotic nuclear division 5 homolog B (S. cerevisiae) 174 CTLH. p.A174V(2) endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 17 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGGGTCCTGCGTTGGAGTAA 0.527000 19 40 0 0 0.007413 0 0 PDZD8 118987 broad.mit.edu 37 10 119043731 119043731 + Missense_Mutation SNP T T G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr10:119043731T>G ENST00000334464.5 - 5 2752 c.2513A>C c.(2512-2514)gAa>gCa p.E838A NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 838 intracellular signal transduction metal ion binding p.E838A(1) kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) GTGTTTGTTTTCTGTTAAACC 0.383000 38 77 0 0 0.004289 0 0 RPP40 10799 broad.mit.edu 37 6 4996626 4996626 + Nonsense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr6:4996626A>T ENST00000380051.2 - 6 632 c.588T>A c.(586-588)taT>taA p.Y196* RPP40_ENST00000464646.1_Nonsense_Mutation_p.Y136*|RPP40_ENST00000319533.5_Nonsense_Mutation_p.Y173* NM_006638.2 NP_006629.2 O75818 RPP40_HUMAN ribonuclease P/MRP 40kDa subunit 196 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity p.Y196*(1) NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 14 Ovarian(93;0.11) all_hematologic(90;0.0895) ACTTGGAAAAATATGACATCA 0.453000 17 162 0 0 0.004990 0 0 PCDH17 27253 broad.mit.edu 37 13 58208543 58208543 + Silent SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr13:58208543G>T ENST00000377918.3 + 1 1889 c.1863G>T c.(1861-1863)ggG>ggT p.G621G NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 621 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GCGAGAGCGGGCGTCTCACCT 0.657000 10 162 4.3838e-07 4.70118e-07 0.001855 1 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 4 156 0 0 0.000602 0 0 FOXM1 2305 broad.mit.edu 37 12 2977850 2977850 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:2977850A>T ENST00000342628.2 - 4 838 c.725T>A c.(724-726)aTg>aAg p.M242K FOXM1_ENST00000361953.3_Missense_Mutation_p.M242K|FOXM1_ENST00000359843.3_Missense_Mutation_p.M242K|FOXM1_ENST00000537018.1_5'UTR NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 242 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding p.M242K(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) TATCATGGCCATGTAAGAGTA 0.498000 96 250 0 0 0.014410 0 0 CLCA2 9635 broad.mit.edu 37 1 86900422 86900422 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:86900422G>T ENST00000370565.4 + 6 1128 c.966G>T c.(964-966)atG>atT p.M322I NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 322 VWFA. cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) CCAGCAAGATGGCAGAGGTAA 0.398000 5 131 0.000602214 0.000620543 0.000602 1 0 PDZD2 23037 broad.mit.edu 37 5 31799826 31799826 + Silent SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:31799826G>C ENST00000438447.1 + 2 859 c.471G>C c.(469-471)ggG>ggC p.G157G PDZD2_ENST00000282493.3_Silent_p.G157G O15018 PDZD2_HUMAN PDZ domain containing 2 157 PDZ 1. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 ATGTCAGTGGGGCCAGGTAAG 0.572000 7 222 0 0 0.001984 0 0 PGAM4 441531 broad.mit.edu 37 X 77224407 77224407 + Missense_Mutation SNP T T C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chrX:77224407T>C ENST00000458128.1 - 1 728 c.729A>G c.(727-729)atA>atG p.I243M ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 243 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 CCACAGCTTCTATGGCTTTGC 0.567000 5 110 0 0 0.003080 0 0 OR51Q1 390061 broad.mit.edu 37 11 5444131 5444131 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:5444131C>A ENST00000300778.4 + 1 791 c.701C>A c.(700-702)gCt>gAt p.A234D HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A234D(2) endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCACCTGGGCTGAGCGACTC 0.483000 96 131 1.69331e-39 2.16927e-39 0.014410 1 0 LTBP3 4054 broad.mit.edu 37 11 65318931 65318931 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:65318931C>G ENST00000301873.5 - 10 1831 c.1563G>C c.(1561-1563)gaG>gaC p.E521D LTBP3_ENST00000322147.4_Missense_Mutation_p.E521D|LTBP3_ENST00000536982.1_Missense_Mutation_p.E147D NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 521 extracellular region calcium ion binding|growth factor binding p.E521D(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 GCACTGACCTCTCCTCACTCA 0.637000 25 79 0 0 0.005443 0 0 LHX8 431707 broad.mit.edu 37 1 75608822 75608822 + Missense_Mutation SNP T T G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:75608822T>G ENST00000294638.5 + 6 1073 c.409T>G c.(409-411)Tct>Gct p.S137A LHX8_ENST00000356261.3_Missense_Mutation_p.S127A NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 137 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S137A(2) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 AACTCGCTGCTCTCGATGTGG 0.443000 17 61 0 0 0.010504 0 0 TM4SF19 116211 broad.mit.edu 37 3 196050777 196050777 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:196050777G>T ENST00000446879.1 - 5 662 c.537C>A c.(535-537)ttC>ttA p.F179L TM4SF19_ENST00000273695.3_Missense_Mutation_p.L181M|TM4SF19_ENST00000454715.1_Missense_Mutation_p.L155M|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19-AS1_ENST00000444939.1_RNA Q96DZ7 T4S19_HUMAN transmembrane 4 L six family member 19 0 integral to membrane p.L181M(2) endometrium(2)|kidney(2)|large_intestine(3)|lung(5) 12 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) CTGATGCACAGAAGGGCGGAG 0.567000 19 116 3.57192e-18 4.254e-18 0.006122 1 0 DCAF8L2 347442 broad.mit.edu 37 X 27766598 27766598 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chrX:27766598C>T ENST00000451261.2 + 5 1985 c.1586C>T c.(1585-1587)gCg>gTg p.A529V NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 p.A496V(2) central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 CCTGTGTTGGCGTGCAGTGGC 0.473000 17 4 0 0 0.004007 0 0 EGFLAM 133584 broad.mit.edu 37 5 38406296 38406296 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:38406296G>A ENST00000322350.5 + 7 1127 c.781G>A c.(781-783)Gat>Aat p.D261N EGFLAM_ENST00000354891.3_Missense_Mutation_p.D261N|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D27N|EGFLAM_ENST00000397202.2_Intron NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 261 cell junction|proteinaceous extracellular matrix|synapse p.D261N(4) NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TGGTGAGGATGATGAAGGATT 0.473000 36 55 0 0 0.003271 0 0 TEPP 374739 broad.mit.edu 37 16 58011792 58011792 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr16:58011792G>A ENST00000290871.5 + 2 274 c.237G>A c.(235-237)ctG>ctA p.L79L TEPP_ENST00000441824.2_Silent_p.L79L|TEPP_ENST00000569996.1_Intron NM_199046.2 NP_950247.2 Q6URK8 TEPP_HUMAN testis, prostate and placenta expressed 79 extracellular region p.L79L(1) central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 8 CGGCCATCCTGCTTCCCATGG 0.657000 132 209 0 0 0.014410 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617598 77617598 + Silent SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr8:77617598C>A ENST00000521891.2 + 2 1723 c.1275C>A c.(1273-1275)ctC>ctA p.L425L ZFHX4_ENST00000455469.2_Silent_p.L425L|ZFHX4_ENST00000518282.1_Silent_p.L425L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.L425L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 425 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L425L(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTGTCTCCCTCAGCCACTCAT 0.502000 HNSCC(33;0.089) 20 33 8.34094e-07 8.78579e-07 0.008871 1 0 EBF3 253738 broad.mit.edu 37 10 131646712 131646712 + Nonsense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr10:131646712G>A ENST00000368648.3 - 11 1117 c.1045C>T c.(1045-1047)Cag>Tag p.Q349* EBF3_ENST00000355311.5_Nonsense_Mutation_p.Q358* NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 358 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding p.Q349*(3)|p.Q358*(3) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) TGCAACCTCTGAAAGCCGTAA 0.468000 53 192 0 0 0.014410 0 0 PARP11 57097 broad.mit.edu 37 12 3938098 3938098 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:3938098G>A ENST00000228820.4 - 3 390 c.246C>T c.(244-246)ttC>ttT p.F82F PARP11_ENST00000427057.2_Intron|PARP11_ENST00000397096.2_Silent_p.F75F|PARP11_ENST00000447133.3_Intron NM_020367.4 NP_065100.2 Q9NR21 PAR11_HUMAN poly (ADP-ribose) polymerase family, member 11 75 WWE. NAD+ ADP-ribosyltransferase activity p.F75F(2) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 17 all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264) TCTTGTAGCTGAATTTGGAAG 0.358000 11 80 0 0 0.008291 0 0 AGPS 8540 broad.mit.edu 37 2 178402821 178402821 + Silent SNP A A G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:178402821A>G ENST00000264167.4 + 20 2021 c.1875A>G c.(1873-1875)caA>caG p.Q625Q AGPS_ENST00000409888.1_Silent_p.Q156Q NM_003659.3 NP_003650.1 O00116 ADAS_HUMAN alkylglycerone phosphate synthase 625 ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity p.Q625Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) TACGGAAGCAATGGCTAAAGG 0.388000 6 84 0 0 0.003080 0 0 LATS2 26524 broad.mit.edu 37 13 21557918 21557918 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr13:21557918G>C ENST00000382592.4 - 5 2332 c.1927C>G c.(1927-1929)Cag>Gag p.Q643E LATS2_ENST00000542899.1_Missense_Mutation_p.Q643E NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 643 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.Q643E(4) breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) TTCCGCATCTGCTCCTGCTCA 0.458000 17 64 0 0 0.007413 0 0 NSUN6 221078 broad.mit.edu 37 10 18937479 18937479 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr10:18937479C>T ENST00000377304.4 - 2 589 c.171G>A c.(169-171)gtG>gtA p.V57V RP11-139J15.7_ENST00000606425.1_Silent_p.V45V NM_182543.2 NP_872349.1 Q8TEA1 NSUN6_HUMAN NOP2/Sun domain family, member 6 57 methyltransferase activity|RNA binding p.V57V(2) endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 AATGTGTATTCACTCTGACAG 0.338000 11 51 0 0 0.010729 0 0 CEP152 22995 broad.mit.edu 37 15 49048414 49048414 + Nonsense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr15:49048414G>A ENST00000380950.2 - 20 3218 c.3031C>T c.(3031-3033)Cag>Tag p.Q1011* CEP152_ENST00000325747.5_Nonsense_Mutation_p.Q918*|CEP152_ENST00000399334.3_Nonsense_Mutation_p.Q1011* NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 1011 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding p.Q1011*(2) breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) GTCTCCTTCTGAAGAAGTAGT 0.393000 35 62 0 0 0.003271 0 0 POLE 5426 broad.mit.edu 37 12 133219516 133219516 + Missense_Mutation SNP T T G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:133219516T>G ENST00000320574.5 - 36 4661 c.4618A>C c.(4618-4620)Aag>Cag p.K1540Q POLE_ENST00000535270.1_Missense_Mutation_p.K1513Q NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1540 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) GGGCCCACCTTCTCCAGGAGG 0.627000 DNA polymerases (catalytic subunits) 69 70 0 0 0.014410 0 0 KMT2C 58508 broad.mit.edu 37 7 151945303 151945303 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr7:151945303G>C ENST00000355193.2 - 14 2434 c.2216C>G c.(2215-2217)tCt>tGt p.S739C KMT2C_ENST00000262189.6_Missense_Mutation_p.S739C lysine (K)-specific methyltransferase 2C AGTCATTTCAGAGTCCATCAA 0.363000 3 78 0 0 0.009096 0 0 GADL1 339896 broad.mit.edu 37 3 30769763 30769763 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:30769763C>T ENST00000282538.5 - 15 1687 c.1537G>A c.(1537-1539)Gag>Aag p.E513K GADL1_ENST00000498387.1_5'UTR NM_207359.2 NP_997242.2 Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 513 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding p.E513K(2)|p.E329K(2) breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) AAGTCTATCTCATCCAGGAGG 0.537000 58 152 0 0 0.014410 0 0 DNAI2 64446 broad.mit.edu 37 17 72295931 72295931 + Missense_Mutation SNP T T G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:72295931T>G ENST00000579490.1 + 6 1105 c.970T>G c.(970-972)Tat>Gat p.Y324D DNAI2_ENST00000446837.2_Missense_Mutation_p.Y267D|DNAI2_ENST00000582036.1_Missense_Mutation_p.Y267D|DNAI2_ENST00000311014.6_Missense_Mutation_p.Y267D|DNAI2_ENST00000307504.5_Missense_Mutation_p.Y124D Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 267 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity p.Y267D(2) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 AGACCCTGTGTATGGCACCAT 0.607000 Kartagener syndrome 38 50 0 0 0.006999 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077532 19077532 + Missense_Mutation SNP G G A rs60756581 byFrequency TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:19077532G>A ENST00000329773.2 - 2 505 c.418C>T c.(418-420)Cgc>Tgc p.R140C NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 140 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding p.R140C(2) NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 CTGGGGCGGCGGCAGCGATAC 0.607000 22 90 0 0 0.003330 0 0 SLC44A4 80736 broad.mit.edu 37 6 31833121 31833121 + Silent SNP C C T rs142009471 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr6:31833121C>T ENST00000544672.1 - 17 1799 c.1503G>A c.(1501-1503)gcG>gcA p.A501A SLC44A4_ENST00000229729.6_Silent_p.A577A|SLC44A4_ENST00000375562.4_Silent_p.A535A NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 577 integral to membrane|plasma membrane choline transmembrane transporter activity p.A577A(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) GTAGCATGAACGCATTTTTGG 0.562000 52 269 0 0 0.014410 0 0 USP47 55031 broad.mit.edu 37 11 11941942 11941942 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:11941942C>T ENST00000339865.5 + 9 1678 c.915C>T c.(913-915)ttC>ttT p.F305F USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Silent_p.F393F|USP47_ENST00000527733.1_Silent_p.F373F NM_017944.3 NP_060414.3 Q96K76 UBP47_HUMAN ubiquitin specific peptidase 47 393 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding p.F305F(2) breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 Epithelial(150;0.000339) TGAAAAGATTCGATTTTGATT 0.358000 16 59 0 0 0.004990 0 0 SNHG14 104472715 broad.mit.edu 37 15 25326355 25326355 + RNA SNP T T G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr15:25326355T>G ENST00000546682.1 + 0 55 SNHG14_ENST00000549804.2_RNA NR_003361.1 CCAGAGGCTGTTGGGATCCTC 0.507000 11 39 0 0 0.002780 0 0 SRGAP1 57522 broad.mit.edu 37 12 64521497 64521497 + Missense_Mutation SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:64521497T>A ENST00000355086.3 + 20 3057 c.2533T>A c.(2533-2535)Tta>Ata p.L845I SRGAP1_ENST00000543397.1_Missense_Mutation_p.L782I|SRGAP1_ENST00000357825.3_Missense_Mutation_p.L822I NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 845 axon guidance cytosol p.L845I(2) breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) TGACGGCTATTTAGCCAGGTA 0.597000 21 117 0 0 0.010504 0 0 NLGN4X 57502 broad.mit.edu 37 X 5827175 5827175 + Missense_Mutation SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chrX:5827175T>A ENST00000381095.3 - 4 1358 c.731A>T c.(730-732)gAc>gTc p.D244V NLGN4X_ENST00000538097.1_Missense_Mutation_p.D244V|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D264V|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D244V|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D244V NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 244 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.D244F(1) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 TCTCTTGGGGTCCCCGCCAAA 0.572000 18 47 0 0 0.008871 0 0 SH2B1 25970 broad.mit.edu 37 16 28878061 28878061 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr16:28878061G>C ENST00000337120.5 + 1 3937 c.646G>C c.(646-648)Gat>Cat p.D216H SH2B1_ENST00000322610.8_Missense_Mutation_p.D216H|SH2B1_ENST00000395532.4_Missense_Mutation_p.D216H|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.D216H|SH2B1_ENST00000563674.1_Intron NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 216 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity p.D216H(2) endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 ACTGGTCAGTGATGGAACGTC 0.622000 37 49 0 0 0.004878 0 0 C14orf159 80017 broad.mit.edu 37 14 91691111 91691111 + Silent SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr14:91691111G>T ENST00000518868.1 + 17 2490 c.1800G>T c.(1798-1800)ctG>ctT p.L600L C14orf159_ENST00000428926.2_Silent_p.L595L|C14orf159_ENST00000523771.1_Silent_p.L595L|C14orf159_ENST00000522322.1_Silent_p.L595L|C14orf159_ENST00000523816.1_Silent_p.L595L|C14orf159_ENST00000520328.1_Silent_p.L543L|C14orf159_ENST00000525393.2_Silent_p.L471L|C14orf159_ENST00000523576.1_3'UTR|C14orf159_ENST00000521077.2_Silent_p.L560L|C14orf159_ENST00000412671.2_Silent_p.L600L|C14orf159_ENST00000256324.10_Silent_p.L600L Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 595 mitochondrion p.L595L(2) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) TGGATGGGCTGCCCTTCCACA 0.572000 39 18 8.16277e-20 9.87029e-20 0.006999 1 0 PLCB3 5331 broad.mit.edu 37 11 64029532 64029532 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:64029532C>T ENST00000540288.1 + 17 2125 c.2022C>T c.(2020-2022)ctC>ctT p.L674L PLCB3_ENST00000325234.5_Silent_p.L607L|PLCB3_ENST00000279230.6_Silent_p.L674L NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 674 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.L674L(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 TTGTTGCGCTCAACTTCCAGA 0.607000 37 88 0 0 0.006999 0 0 SAP30BP 29115 broad.mit.edu 37 17 73689542 73689542 + Missense_Mutation SNP G G C rs150596591 byFrequency TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:73689542G>C ENST00000584667.1 + 4 544 c.287G>C c.(286-288)cGa>cCa p.R96P SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.R80P NM_013260.6 NP_037392.1 Q9UHR5 S30BP_HUMAN SAP30 binding protein 96 apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.R96P(2) kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1) 17 all_cancers(13;6.42e-08) all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GCAGAAAAGCGAGACCCCCAG 0.552000 17 73 0 0 0.008871 0 0 STARD7-AS1 285033 broad.mit.edu 37 2 96906022 96906022 + RNA SNP T T C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:96906022T>C ENST00000446816.1 + 0 564 CCCTTCAGAATACATGGACAA 0.418000 3 27 0 0 0.004672 0 0 NLGN4X 57502 broad.mit.edu 37 X 5827176 5827176 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chrX:5827176C>A ENST00000381095.3 - 4 1357 c.730G>T c.(730-732)Gac>Tac p.D244Y NLGN4X_ENST00000538097.1_Missense_Mutation_p.D244Y|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D264Y|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D244Y|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D244Y NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 244 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.D244F(1)|p.D244Y(1) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 CTCTTGGGGTCCCCGCCAAAG 0.567000 17 49 3.99206e-14 4.54864e-14 0.007413 1 0 ZNF160 90338 broad.mit.edu 37 19 53576594 53576594 + Missense_Mutation SNP A A C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:53576594A>C ENST00000355147.5 - 7 848 c.440T>G c.(439-441)tTc>tGc p.F147C ZNF160_ENST00000599056.1_Intron|ZNF160_ENST00000601421.1_Intron|ZNF160_ENST00000429604.1_Intron|ZNF160_ENST00000418871.1_Intron Q9HCG1 ZN160_HUMAN zinc finger protein 160 0 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) ACAATCTTAGAAGATAGAACC 0.478000 21 56 0 0 0.010504 0 0 EID3 493861 broad.mit.edu 37 12 104698247 104698247 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:104698247C>A ENST00000527879.1 + 1 731 c.535C>A c.(535-537)Cgt>Agt p.R179S TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000529546.1_Intron NM_001008394.2 NP_001008395.1 Q8N140 EID3_HUMAN EP300 interacting inhibitor of differentiation 3 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus p.R179S(1) large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 CAAGCTAGAACGTTCTGCACC 0.428000 39 239 1.67305e-13 1.8792e-13 0.006230 1 0 ZNF160 90338 broad.mit.edu 37 19 53589517 53589517 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:53589517G>T ENST00000429604.1 - 4 428 c.13C>A c.(13-15)Cag>Aag p.Q5K ZNF160_ENST00000599056.1_Missense_Mutation_p.Q5K|ZNF160_ENST00000418871.1_Missense_Mutation_p.Q5K|ZNF160_ENST00000355147.5_Missense_Mutation_p.Q5K NM_001102603.1|NM_198893.2 NP_001096073.1|NP_942596.1 Q9HCG1 ZN160_HUMAN zinc finger protein 160 5 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q5K(2)|p.Q5E(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) CACTTTACCTGAGTAAGGGCC 0.428000 38 84 2.87052e-16 3.3513e-16 0.005524 1 0 NR4A1 3164 broad.mit.edu 37 12 52448376 52448376 + Silent SNP A A C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:52448376A>C ENST00000545748.1 + 3 1421 c.426A>C c.(424-426)acA>acC p.T142T NR4A1_ENST00000550082.1_Silent_p.T101T|NR4A1_ENST00000360284.3_Silent_p.T101T|NR4A1_ENST00000548232.1_Silent_p.T88T|NR4A1_ENST00000547206.1_3'UTR|NR4A1_ENST00000394824.2_Silent_p.T88T|NR4A1_ENST00000394825.1_Silent_p.T88T|NR4A1_ENST00000243050.1_Silent_p.T88T P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 88 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2) 16 BRCA - Breast invasive adenocarcinoma(357;0.0967) cctcctccacatcctcgtcct 0.627000 18 108 0 0 0.004990 0 0 FBN2 2201 broad.mit.edu 37 5 127599169 127599169 + Nonsense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:127599169C>A ENST00000508053.1 - 69 9114 c.8140G>T c.(8140-8142)Gag>Tag p.E2714* FBN2_ENST00000262464.4_Nonsense_Mutation_p.E2714* P35556 FBN2_HUMAN fibrillin 2 2714 EGF-like 47; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.E2714*(4) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TAGCCCCCCTCCGTGTTAGAG 0.587000 50 59 6.26901e-30 7.81977e-30 0.014410 1 0 FAM43A 131583 broad.mit.edu 37 3 194407563 194407563 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:194407563C>T ENST00000329759.4 + 1 942 c.8C>T c.(7-9)cCg>cTg p.P3L NM_153690.4 NP_710157.2 Q8N2R8 FA43A_HUMAN family with sequence similarity 43, member A 3 p.P3L(1) breast(2)|central_nervous_system(1)|lung(6)|skin(1) 10 all_cancers(143;2.04e-08)|Ovarian(172;0.0634) Lung NSC(153;0.147) OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.78e-05) GAGATGCTGCCGTGGAAGAAG 0.761000 10 29 0 0 0.010729 0 0 TRAV8-6 28680 broad.mit.edu 37 14 22446767 22446767 + RNA SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr14:22446767C>G ENST00000390443.3 + 0 69 CATCCAGGCTCCTTAAGGGAA 0.517000 OREG0022573 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 5 0 0 0.010729 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162181 90162181 + RNA SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr16:90162181C>T ENST00000567960.1 + 0 917 TUBB8P7_ENST00000564451.1_RNA CTGTGACCCCCGTCATGGCCG 0.562000 13 64 0 0 0.003954 0 0 GRSF1 2926 broad.mit.edu 37 4 71701932 71701932 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr4:71701932G>C ENST00000254799.6 - 2 574 c.457C>G c.(457-459)Cga>Gga p.R153G GRSF1_ENST00000545193.1_Missense_Mutation_p.R35G|GRSF1_ENST00000439371.1_5'UTR|GRSF1_ENST00000508091.1_5'UTR|GRSF1_ENST00000502323.1_5'UTR NM_002092.3 NP_002083.3 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 153 RRM 1. mRNA polyadenylation mRNA binding|nucleotide binding p.R153G(2) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2) 17 all_hematologic(202;0.21) Lung(101;0.235) CCTTGAGCTCGAATGAGAAAG 0.398000 17 137 0 0 0.004007 0 0 ATP6V1A 523 broad.mit.edu 37 3 113505180 113505180 + Silent SNP A A C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:113505180A>C ENST00000273398.3 + 6 774 c.666A>C c.(664-666)ccA>ccC p.P222P ATP6V1A_ENST00000538620.1_Silent_p.P189P NM_001690.3 NP_001681.2 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A 222 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism p.P222P(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AGAAGCTGCCAGCCAATCATC 0.463000 42 223 0 0 0.010771 0 0 RETSAT 54884 broad.mit.edu 37 2 85577259 85577259 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:85577259G>A ENST00000295802.4 - 4 815 c.703C>T c.(703-705)Ctt>Ttt p.L235F RETSAT_ENST00000457495.2_Missense_Mutation_p.L174F|RETSAT_ENST00000263854.6_Missense_Mutation_p.L235F NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 235 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity p.L235F(1) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) GATGCTTGAAGGAATGGAGAG 0.587000 36 211 0 0 0.003271 0 0 HHEX 3087 broad.mit.edu 37 10 94452138 94452138 + Silent SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr10:94452138C>G ENST00000282728.5 + 2 2174 c.375C>G c.(373-375)ctC>ctG p.L125L HHEX_ENST00000492654.2_5'UTR|HHEX_ENST00000472590.2_5'UTR NM_002729.4 NP_002720.1 Q03014 HHEX_HUMAN hematopoietically expressed homeobox 125 Pro-rich. anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway cytoplasm|nucleus|protein-DNA complex DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding p.L125L(2) kidney(2)|large_intestine(2)|lung(5)|ovary(1) 10 AACCTCTACTCTGGAGCCCCT 0.617000 64 84 0 0 0.014410 0 0 PTPRT 11122 broad.mit.edu 37 20 40730910 40730910 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr20:40730910G>A ENST00000373198.3 - 27 3869 c.3634C>T c.(3634-3636)Cgg>Tgg p.R1212W PTPRT_ENST00000373184.1_Missense_Mutation_p.R1200W|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1189W|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1199W|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1193W|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1180W|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1190W NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1190 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TCCTCGGGCCGCACACGGGGT 0.562000 5 203 0 0 0.001168 0 0 PGAM4 441531 broad.mit.edu 37 X 77224418 77224418 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chrX:77224418A>G ENST00000458128.1 - 1 717 c.718T>C c.(718-720)Tgc>Cgc p.C240R ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 240 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity p.C240R(1) endometrium(2)|lung(4) 6 ATGGCTTTGCACACCGTCTCT 0.562000 4 118 0 0 0.003080 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072821 17072821 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr22:17072821G>T ENST00000359963.3 - 1 879 c.620C>A c.(619-621)gCg>gAg p.A207E NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 207 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.A207G(1)|p.A207V(1)|p.A207E(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CCCGGGCAGCGCGCACACCCC 0.617000 35 149 1.836e-18 2.19764e-18 0.003755 1 0 USP42 84132 broad.mit.edu 37 7 6189291 6189291 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr7:6189291C>T ENST00000306177.5 + 13 1622 c.1464C>T c.(1462-1464)tcC>tcT p.S488S NM_032172.2 NP_115548.1 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 488 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity p.S616S(1)|p.S488S(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 35 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) ACGGGAATTCCAGTGTCAACA 0.463000 67 108 0 0 0.014410 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617600 77617600 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr8:77617600G>A ENST00000521891.2 + 2 1725 c.1277G>A c.(1276-1278)aGc>aAc p.S426N ZFHX4_ENST00000455469.2_Missense_Mutation_p.S426N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S426N|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S426N NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 426 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S426N(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GTCTCCCTCAGCCACTCATCG 0.502000 HNSCC(33;0.089) 21 33 0 0 0.008871 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39253953 39253953 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:39253953G>T ENST00000333822.4 - 1 440 c.384C>A c.(382-384)agC>agA p.S128R NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 128 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 agatgctgcagctggggcggc 0.672000 6 6 4.75885e-15 5.50169e-15 0.004990 1 0 AQP12B 653437 broad.mit.edu 37 2 241621963 241621963 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:241621963G>T ENST00000407834.3 - 1 354 c.292C>A c.(292-294)Ctg>Atg p.L98M NM_001102467.1 NP_001095937.1 A6NM10 AQ12B_HUMAN aquaporin 12B 86 integral to membrane transporter activity p.L98M(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1) 13 all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) AACTCCTGCAGGGACACGGTG 0.687000 13 74 7.03913e-09 7.61768e-09 0.013537 1 0 SLC6A16 28968 broad.mit.edu 37 19 49812634 49812634 + Missense_Mutation SNP A A C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:49812634A>C ENST00000454748.3 - 6 1112 c.911T>G c.(910-912)aTc>aGc p.I304S SLC6A16_ENST00000335875.4_Missense_Mutation_p.I304S Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 304 integral to membrane|intracellular neurotransmitter:sodium symporter activity p.I304S(2) NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) ACCGACAATGATGAAACAGGG 0.493000 11 81 0 0 0.002450 0 0 TMEM260 54916 broad.mit.edu 37 14 57099793 57099793 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr14:57099793C>T ENST00000261556.6 + 13 1750 c.1628C>T c.(1627-1629)tCt>tTt p.S543F TMEM260_ENST00000538838.1_3'UTR|TMEM260_ENST00000536419.1_Missense_Mutation_p.S77F NM_017799.3 NP_060269.3 transmembrane protein 260 CCATGGGGGTCTTGTGACAAA 0.368000 19 47 0 0 0.010504 0 0 TRIO 7204 broad.mit.edu 37 5 14291189 14291189 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:14291189C>T ENST00000344204.4 + 5 929 c.905C>T c.(904-906)gCg>gTg p.A302V TRIO_ENST00000509967.2_Missense_Mutation_p.A253V|TRIO_ENST00000537187.1_Missense_Mutation_p.A302V NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 302 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TCAGGCAATGCGGACCTGCAG 0.562000 5 222 0 0 0.000602 0 0 MAN1A2 10905 broad.mit.edu 37 1 117944871 117944871 + Silent SNP A A C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:117944871A>C ENST00000356554.3 + 2 1101 c.366A>C c.(364-366)gcA>gcC p.A122A MAN1A2_ENST00000482811.1_Intron NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 122 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity p.A122A(2) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) TGGAAGAAGCAAAAGAAAAAT 0.373000 10 34 0 0 0.006214 0 0 CDH9 1007 broad.mit.edu 37 5 26881693 26881693 + Missense_Mutation SNP T T C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:26881693T>C ENST00000231021.4 - 12 2094 c.1922A>G c.(1921-1923)aAa>aGa p.K641R NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 641 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.K641R(2) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 AGGTTCCTTTTTTCTTTGCCT 0.388000 16 61 0 0 0.004990 0 0 SLC6A15 55117 broad.mit.edu 37 12 85266387 85266387 + Silent SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:85266387T>A ENST00000266682.5 - 8 1837 c.1296A>T c.(1294-1296)ctA>ctT p.L432L SLC6A15_ENST00000309283.7_Silent_p.L140L|SLC6A15_ENST00000552192.1_Silent_p.L325L NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 432 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.L432L(2) kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 TAACTTTATTTAGCTCTTCTT 0.328000 9 60 0 0 0.004482 0 0 VPRBP 9730 broad.mit.edu 37 3 51440599 51440599 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:51440599C>A ENST00000335891.5 - 16 3105 c.3096G>T c.(3094-3096)gaG>gaT p.E1032D Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 1481 interspecies interaction between organisms cytoplasm|nucleus protein binding p.E1485D(2) breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) TCAGTTCCACCTCCTCATCTG 0.527000 34 26 1.07121e-22 1.30864e-22 0.006999 1 0 UNC13C 440279 broad.mit.edu 37 15 54305729 54305729 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr15:54305729G>A ENST00000545554.1 + 1 629 c.629G>A c.(628-630)aGa>aAa p.R210K UNC13C_ENST00000537900.1_Missense_Mutation_p.R210K|UNC13C_ENST00000260323.11_Missense_Mutation_p.R210K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 210 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.R210K(4) 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) TGGGGAATAAGAAGTAAGTCT 0.438000 38 151 0 0 0.005524 0 0 NFASC 23114 broad.mit.edu 37 1 204948557 204948557 + Silent SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:204948557C>A ENST00000367172.4 + 19 2374 c.2046C>A c.(2044-2046)ccC>ccA p.P682P NFASC_ENST00000401399.1_Silent_p.P682P|NFASC_ENST00000404907.1_Silent_p.P678P|NFASC_ENST00000367170.4_Silent_p.P682P|NFASC_ENST00000367171.4_Silent_p.P667P|NFASC_ENST00000367169.4_Silent_p.P682P|NFASC_ENST00000539706.1_Silent_p.P678P|NFASC_ENST00000338586.6_Silent_p.P682P|NFASC_ENST00000338515.6_Silent_p.P682P|NFASC_ENST00000339876.6_Silent_p.P682P|NFASC_ENST00000360049.4_Silent_p.P678P|NFASC_ENST00000404076.1_Silent_p.P661P|NFASC_ENST00000513543.1_Silent_p.P678P O94856 NFASC_HUMAN neurofascin 682 Fibronectin type-III 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding p.P678P(3)|p.P682P(3) NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCAAGTACCCCGGCAGCGTTA 0.572000 44 216 5.78141e-17 6.81689e-17 0.013114 1 0 KIAA0430 9665 broad.mit.edu 37 16 15705448 15705448 + Splice_Site SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr16:15705448C>A ENST00000396368.3 - 18 3824 c.e18+1 KIAA0430_ENST00000602337.1_Splice_Site|KIAA0430_ENST00000551742.1_Splice_Site|KIAA0430_ENST00000548025.1_Splice_Site|KIAA0430_ENST00000540441.2_Splice_Site|KIAA0430_ENST00000344181.3_Splice_Site NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 peroxisome nucleotide binding|RNA binding p.?(2) breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 CATCAACTCACCAGTGATAAG 0.368000 31 52 7.16026e-08 7.71355e-08 0.012213 1 0 KEAP1 9817 broad.mit.edu 37 19 10600446 10600446 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:10600446C>T ENST00000171111.5 - 4 1956 c.1409G>A c.(1408-1410)cGt>cAt p.R470H KEAP1_ENST00000393623.2_Missense_Mutation_p.R470H NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 470 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) ATAAAGGAGACGATTGAGGAC 0.562000 25 21 0 0 0.002780 0 0 GPR124 25960 broad.mit.edu 37 8 37692771 37692771 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr8:37692771G>A ENST00000412232.2 + 12 1701 c.1688G>A c.(1687-1689)aGg>aAg p.R563K GPR124_ENST00000315215.7_Intron NM_032777.9 NP_116166.9 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 563 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity p.R556K(1) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GCCTTCCAGAGGAGGGAGGGA 0.672000 23 52 0 0 0.003954 0 0 ISCU 23479 broad.mit.edu 37 12 108957910 108957910 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:108957910G>T ENST00000338291.4 + 2 206 c.18G>T c.(16-18)atG>atT p.M6I ISCU_ENST00000547005.1_Intron|ISCU_ENST00000431221.2_Intron|ISCU_ENST00000539593.1_Intron|ISCU_ENST00000535729.1_Intron|ISCU_ENST00000392807.4_Missense_Mutation_p.M6I|ISCU_ENST00000311893.9_Intron Q9H1K1 ISCU_HUMAN iron-sulfur cluster assembly enzyme 0 iron-sulfur cluster assembly|nitrogen fixation cytosol|mitochondrion|nucleus iron ion binding|iron-sulfur cluster binding|protein complex scaffold p.M6I(1) kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1) 11 TCATTGACATGAGTGTAGACC 0.403000 36 192 3.38236e-24 4.15346e-24 0.006999 1 0 MANF 7873 broad.mit.edu 37 3 51425216 51425216 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:51425216G>A ENST00000528157.1 + 3 567 c.271G>A c.(271-273)Gag>Aag p.E91K MANF_ENST00000470900.1_3'UTR NM_006010.4 NP_006001.3 P55145 MANF_HUMAN mesencephalic astrocyte-derived neurotrophic factor 91 response to unfolded protein extracellular region growth factor activity p.E91K(1)|p.E94K(1) lung(1)|ovary(1) 2 AATCATCAATGAGGTATCAAA 0.483000 11 22 0 0 0.008291 0 0 CHCHD6 84303 broad.mit.edu 37 3 126676372 126676372 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:126676372G>A ENST00000508789.1 + 7 755 c.683G>A c.(682-684)cGc>cAc p.R228H CHCHD6_ENST00000290913.3_Missense_Mutation_p.R227H Q9BRQ6 CHCH6_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 6 227 CHCH. p.R227H(1) endometrium(2)|large_intestine(3)|lung(3) 8 GCATACCAGCGCTGCGTGAGC 0.617000 16 22 0 0 0.004007 0 0 FANCM 57697 broad.mit.edu 37 14 45606340 45606340 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr14:45606340G>T ENST00000267430.5 + 2 662 c.577G>T c.(577-579)Gtc>Ttc p.V193F FANCM_ENST00000556036.1_Missense_Mutation_p.V193F|FANCM_ENST00000542564.2_Missense_Mutation_p.V193F NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 193 Helicase ATP-binding. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding p.V193F(1) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TACACCTCAGGTCATGGTAAA 0.393000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 20 565 5.35267e-07 5.71433e-07 0.007413 1 0 TEX33 339669 broad.mit.edu 37 22 37387544 37387544 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr22:37387544A>T ENST00000405091.2 - 6 974 c.723T>A c.(721-723)caT>caA p.H241Q TEX33_ENST00000402860.3_Missense_Mutation_p.H156Q|TEX33_ENST00000381821.1_Missense_Mutation_p.H241Q O43247 EAN57_HUMAN testis expressed 33 241 p.H156Q(2) TCTTCCTGCCATGCCAGTGTT 0.542000 120 209 0 0 0.014410 0 0 FLNA 2316 broad.mit.edu 37 X 153593044 153593044 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chrX:153593044G>A ENST00000422373.1 - 13 2120 c.1872C>T c.(1870-1872)gaC>gaT p.D624D FLNA_ENST00000360319.4_Silent_p.D624D|FLNA_ENST00000344736.4_Silent_p.D624D|FLNA_ENST00000369850.3_Silent_p.D624D NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 624 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding p.D624D(1) breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGCCCTTGTCGTCACATTCGA 0.632000 44 64 0 0 0.014410 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553584 140553584 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:140553584C>T ENST00000231137.3 + 1 1342 c.1168C>T c.(1168-1170)Ccc>Tcc p.P390S NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 390 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P390S(2) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGACGATGTCCCCTTCATCCT 0.473000 44 34 0 0 0.008740 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38205058 38205058 + Missense_Mutation SNP C C T rs142206759 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr8:38205058C>T ENST00000317025.8 - 2 1149 c.632G>A c.(631-633)cGc>cAc p.R211H WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R211H|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R211H|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.R211H NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 211 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding p.R211H(2) NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) GTGTGACTTGCGCTCTTCAGA 0.353000 T NUP98 AML 47 160 0 0 0.014410 0 0 KIAA1456 57604 broad.mit.edu 37 8 12878691 12878691 + Missense_Mutation SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr8:12878691T>A ENST00000524591.2 + 5 992 c.503T>A c.(502-504)cTc>cAc p.L168H KIAA1456_ENST00000447063.2_Intron NM_001099677.1|NM_020844.2 NP_001093147.1|NP_065895.2 Q9P272 K1456_HUMAN KIAA1456 168 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 TGTTCCCAGCTCTTCTCAGAG 0.512000 16 52 0 0 0.010504 0 0 VPS33A 65082 broad.mit.edu 37 12 122748723 122748723 + Silent SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:122748723T>A ENST00000267199.4 - 2 238 c.126A>T c.(124-126)ctA>ctT p.L42L VPS33A_ENST00000451053.2_Silent_p.L42L|RP11-512M8.5_ENST00000535844.1_Silent_p.L42L|VPS33A_ENST00000542310.1_5'UTR NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 42 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding p.L42L(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) AGGGTCCAGTTAGGTATTCAT 0.343000 49 208 0 0 0.014410 0 0 TP53 7157 broad.mit.edu 37 17 7578433 7578433 + Nonsense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:7578433G>C ENST00000420246.2 - 5 629 c.497C>G c.(496-498)tCa>tGa p.S166* TP53_ENST00000359597.4_Nonsense_Mutation_p.S166*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Nonsense_Mutation_p.S166*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S166*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S166*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S166* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 166 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. S -> A (in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S166*(25)|p.0?(8)|p.S166L(4)|p.Q167fs*14(4)|p.S34*(2)|p.S73*(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CATGTGCTGTGACTGCTTGTA 0.632000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 66 47 0 0 0.014410 0 0 CENPN 55839 broad.mit.edu 37 16 81050942 81050942 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr16:81050942C>G ENST00000305850.5 + 4 1019 c.229C>G c.(229-231)Cat>Gat p.H77D RP11-303E16.3_ENST00000562315.1_RNA|CMC2_ENST00000565914.1_Intron|CENPN_ENST00000569461.1_Intron|CENPN_ENST00000299572.5_Missense_Mutation_p.H77D|CENPN_ENST00000439957.3_Intron|CENPN_ENST00000428963.2_Missense_Mutation_p.H77D|CENPN_ENST00000393335.3_Missense_Mutation_p.H77D NM_001100624.2|NM_001270474.1 NP_001094094.2|NP_001257403.1 Q96H22 CENPN_HUMAN centromere protein N 77 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm p.H77D(3) breast(1)|large_intestine(5)|lung(4) 10 TATGCAATTTCATCAGCACCA 0.333000 66 102 0 0 0.014410 0 0 GPC5 2262 broad.mit.edu 37 13 93518680 93518680 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr13:93518680C>T ENST00000377067.3 + 8 2079 c.1707C>T c.(1705-1707)ccC>ccT p.P569P NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 569 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.P569P(2) NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TGTTACTTCCCGGGATTTGGT 0.433000 24 88 0 0 0.002780 0 0 ZNF283 284349 broad.mit.edu 37 19 44351558 44351558 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:44351558G>C ENST00000324461.7 + 7 1102 c.805G>C c.(805-807)Ggg>Cgg p.G269R ZNF283_ENST00000588797.1_Missense_Mutation_p.G130R NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 269 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G269R(1) endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) TAAGGAATGTGGGAAGACCTT 0.403000 8 65 0 0 0.003080 0 0 FBXW8 26259 broad.mit.edu 37 12 117426577 117426577 + Missense_Mutation SNP T T G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:117426577T>G ENST00000455858.2 + 7 1017 c.944T>G c.(943-945)cTt>cGt p.L315R FBXW8_ENST00000309909.5_Missense_Mutation_p.L381R NM_012174.1|NM_153348.2 NP_036306.1|NP_699179.2 Q8N3Y1 FBXW8_HUMAN F-box and WD repeat domain containing 8 381 protein binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 22 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) AGAACCCTCCTTTACGCCCAC 0.547000 8 403 0 0 0.003080 0 0 KCTD19 146212 broad.mit.edu 37 16 67338379 67338379 + Silent SNP T T C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr16:67338379T>C ENST00000304372.5 - 3 451 c.396A>G c.(394-396)acA>acG p.T132T KCTD19_ENST00000562860.1_Intron NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 132 voltage-gated potassium channel complex voltage-gated potassium channel activity p.T132T(1) endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) TACACTTCCATGTACGCCAGT 0.478000 91 145 0 0 0.014410 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101631628 101631628 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:101631628G>A ENST00000310954.6 - 1 625 c.339C>T c.(337-339)ctC>ctT p.L113L NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 113 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity p.L113L(2) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TGACGGCCAAGAGGCAGTAGT 0.632000 39 34 0 0 0.008740 0 0 RETSAT 54884 broad.mit.edu 37 2 85577260 85577260 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:85577260G>A ENST00000295802.4 - 4 814 c.702C>T c.(700-702)ttC>ttT p.F234F RETSAT_ENST00000457495.2_Silent_p.F173F|RETSAT_ENST00000263854.6_Silent_p.F234F NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 234 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity p.L235F(1) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) ATGCTTGAAGGAATGGAGAGA 0.582000 37 209 0 0 0.003755 0 0 HHEX 3087 broad.mit.edu 37 10 94452163 94452163 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr10:94452163C>G ENST00000282728.5 + 2 2199 c.400C>G c.(400-402)Ctg>Gtg p.L134V HHEX_ENST00000492654.2_5'UTR|HHEX_ENST00000472590.2_5'UTR NM_002729.4 NP_002720.1 Q03014 HHEX_HUMAN hematopoietically expressed homeobox 134 anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway cytoplasm|nucleus|protein-DNA complex DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding p.L134V(1) kidney(2)|large_intestine(2)|lung(5)|ovary(1) 10 GCAGAGGCCTCTGCATAAAAG 0.602000 65 80 0 0 0.014410 0 0 ATP6V0A1 535 broad.mit.edu 37 17 40630546 40630546 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:40630546G>T ENST00000343619.4 + 7 695 c.572G>T c.(571-573)tGc>tTc p.C191F ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.C191F|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.C198F|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.C148F|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.C191F|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.C148F NM_001130021.1 NP_001123493.1 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 191 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity p.C191F(2) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) TGGCGGGTATGCCGGGGAAAT 0.532000 7 106 0.00198382 0.00203535 0.001984 1 0 PCNT 5116 broad.mit.edu 37 21 47783764 47783764 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr21:47783764G>C ENST00000359568.5 + 14 2631 c.2524G>C c.(2524-2526)Gag>Cag p.E842Q PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 842 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding p.E842*(1)|p.E842K(1)|p.E842Q(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GTGTGGGCGGGAGCCGCCCAC 0.662000 107 88 0 0 0.014410 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328774 88328774 + Silent SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr13:88328774G>T ENST00000325089.6 + 2 1350 c.1131G>T c.(1129-1131)gcG>gcT p.A377A SLITRK5_ENST00000400028.3_Silent_p.A136A NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 377 LRRNT. integral to membrane p.A377A(2) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GTCCCACCGCGTGCTCTTGCA 0.577000 60 84 5.47352e-35 6.90013e-35 0.014410 1 0 RIN3 79890 broad.mit.edu 37 14 93118640 93118640 + Nonsense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr14:93118640C>T ENST00000216487.7 + 6 1405 c.1246C>T c.(1246-1248)Caa>Taa p.Q416* RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 416 Pro-rich. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding p.Q416*(1) endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) CCTGCCTCCCCAAGGGACCTC 0.657000 23 69 0 0 0.003954 0 0 BAZ2A 11176 broad.mit.edu 37 12 56999683 56999683 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:56999683C>T ENST00000179765.5 - 14 2533 c.2334G>A c.(2332-2334)cgG>cgA p.R778R BAZ2A_ENST00000549884.1_Silent_p.R808R|BAZ2A_ENST00000379441.3_Silent_p.R780R|BAZ2A_ENST00000551812.1_Silent_p.R810R Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 810 Lys-rich. chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding p.R810R(4)|p.R846R(2) breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 GCTGCCTCTGCCGTTCCTCCA 0.517000 8 14 0 0 0.006214 0 0 IFNL3 282617 broad.mit.edu 37 19 39734751 39734751 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:39734751A>G ENST00000413851.2 - 3 343 c.305T>C c.(304-306)cTg>cCg p.L102P NM_172139.2 NP_742151.2 interferon, lambda 3 p.L102P(1) CAGAACCTTCAGCGTCAGGGC 0.652000 30 79 0 0 0.013726 0 0 KIF2A 3796 broad.mit.edu 37 5 61658358 61658358 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:61658358A>G ENST00000381103.2 + 13 1534 c.1049A>G c.(1048-1050)tAt>tGt p.Y350C KIF2A_ENST00000401507.3_Missense_Mutation_p.Y370C|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000506857.1_Missense_Mutation_p.Y324C|KIF2A_ENST00000407818.3_Missense_Mutation_p.Y370C NM_001243952.1 NP_001230881.1 O00139 KIF2A_HUMAN kinesin heavy chain member 2A 370 Kinesin-motor. blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 15 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) TTTGAAATTTATAGTGGAAAG 0.264000 7 1 0 0 0.001984 0 0 LDHC 3948 broad.mit.edu 37 11 18456297 18456297 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:18456297G>C ENST00000541669.1 + 5 540 c.429G>C c.(427-429)ttG>ttC p.L143F LDHC_ENST00000546146.1_Missense_Mutation_p.L85F|LDHC_ENST00000280704.4_Missense_Mutation_p.L143F|LDHC_ENST00000544105.1_Missense_Mutation_p.L143F|LDHC_ENST00000535809.1_Missense_Mutation_p.L143F|LDHC_ENST00000536880.1_Missense_Mutation_p.L129F|LDHC_ENST00000537486.1_Intron P07864 LDHC_HUMAN lactate dehydrogenase C 143 glycolysis cytoplasm binding|L-lactate dehydrogenase activity p.L143F(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 NADH(DB00157) TGGATATTTTGACATATATAG 0.308000 28 152 0 0 0.012213 0 0 CCDC158 339965 broad.mit.edu 37 4 77247123 77247123 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr4:77247123G>C ENST00000388914.3 - 22 3196 c.3044C>G c.(3043-3045)tCt>tGt p.S1015C NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 1015 Ser-rich. p.S1015C(2) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 CTTCTTAGGAGAAGAATTGAA 0.358000 65 214 0 0 0.014410 0 0 NFXL1 152518 broad.mit.edu 37 4 47892633 47892633 + Silent SNP T T G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr4:47892633T>G ENST00000507489.1 - 12 1716 c.1540A>C c.(1540-1542)Aga>Cga p.R514R NFXL1_ENST00000381538.3_Silent_p.R514R|NFXL1_ENST00000329043.3_Silent_p.R514R NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 514 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding p.R514R(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 AGTTTACCTCTGTGACAGACA 0.348000 11 40 0 0 0.010729 0 0 MSC 9242 broad.mit.edu 37 8 72754901 72754901 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr8:72754901C>T ENST00000325509.4 - 2 905 c.616G>A c.(616-618)Gct>Act p.A206T MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron NM_005098.3 NP_005089.2 O60682 MUSC_HUMAN musculin 206 transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.A206T(2) endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2) 26 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) CCGATTTAAGCGGTGGTTCCA 0.493000 182 606 0 0 0.014410 0 0 RGPD4 285190 broad.mit.edu 37 2 108487966 108487966 + Missense_Mutation SNP A A G rs832357 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:108487966A>G ENST00000408999.3 + 20 3583 c.3506A>G c.(3505-3507)cAg>cGg p.Q1169R RGPD4_ENST00000354986.4_Missense_Mutation_p.Q1169R NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1169 RanBD1 1. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 GAATGCCAGCAGCTTCTGTTA 0.428000 4 1 0 0 0.004007 0 0 SLC27A1 376497 broad.mit.edu 37 19 17612097 17612097 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:17612097C>A ENST00000252595.7 + 11 1749 c.1652C>A c.(1651-1653)gCa>gAa p.A551E SLC27A1_ENST00000598848.1_Intron|SLC27A1_ENST00000598424.1_Missense_Mutation_p.A372E|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.A551E NM_198580.1 NP_940982.1 Q6PCB7 S27A1_HUMAN solute carrier family 27 (fatty acid transporter), member 1 551 cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding p.A551E(4) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 GAGGGTAAGGCAGGGATGGCG 0.642000 40 18 1.76056e-25 2.17319e-25 0.011902 1 0 DCST1 149095 broad.mit.edu 37 1 155015885 155015885 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:155015885G>A ENST00000295542.1 + 10 1168 c.1072G>A c.(1072-1074)Gag>Aag p.E358K DCST1_ENST00000392480.1_Missense_Mutation_p.E358K|DCST1_ENST00000368419.2_Missense_Mutation_p.E358K|DCST1_ENST00000423025.2_Missense_Mutation_p.E333K NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 358 integral to membrane zinc ion binding p.E358K(2) breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CGTGAGCACCGAGGTGCGGGA 0.667000 27 109 0 0 0.006320 0 0 COL11A1 1301 broad.mit.edu 37 1 103364245 103364245 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:103364245G>A ENST00000358392.2 - 56 4578 c.4261C>T c.(4261-4263)Ctt>Ttt p.L1421F COL11A1_ENST00000370096.3_Missense_Mutation_p.L1409F|COL11A1_ENST00000353414.4_Missense_Mutation_p.L1370F|COL11A1_ENST00000512756.1_Missense_Mutation_p.L1293F NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1409 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.L1409F(2)|p.L1421F(2) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ATGCCCCGAAGACCTTCTGGA 0.453000 43 69 0 0 0.014410 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296599 39296599 + Silent SNP T T C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:39296599T>C ENST00000345847.4 - 1 140 c.141A>G c.(139-141)agA>agG p.R47R NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 47 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 AGCACTGGGGTCTGCAGCAGC 0.682000 14 125 0 0 0.002780 0 0 ITPR3 3710 broad.mit.edu 37 6 33632679 33632679 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr6:33632679C>A ENST00000374316.5 + 13 2241 c.1181C>A c.(1180-1182)aCc>aAc p.T394N ITPR3_ENST00000605930.1_Missense_Mutation_p.T394N Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 394 MIR 5. activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding p.T394N(4) NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 CACCTCTGCACCAACACGTGG 0.662000 24 48 2.48779e-11 2.72966e-11 0.005443 1 0 GALNT11 63917 broad.mit.edu 37 7 151818708 151818708 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr7:151818708C>T ENST00000434507.1 + 14 2210 c.1773C>T c.(1771-1773)gtC>gtT p.V591V RP5-981O7.2_ENST00000424630.1_RNA|GALNT11_ENST00000320311.2_Silent_p.V591V|GALNT11_ENST00000430044.2_Silent_p.V591V|GALNT11_ENST00000452146.2_Silent_p.V510V Q8NCW6 GLT11_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 591 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.V591V(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) AGGGCTCTGTCGCCATGGCGA 0.532000 27 72 0 0 0.007291 0 0 OR56A3 390083 broad.mit.edu 37 11 5969183 5969183 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:5969183C>A ENST00000329564.6 + 1 614 c.607C>A c.(607-609)Caa>Aaa p.Q203K NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q203K(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCACCTTTACCAATTTGCTGG 0.478000 31 210 4.74835e-14 5.35886e-14 0.010818 1 0 MSH2 4436 broad.mit.edu 37 2 47709956 47709956 + Silent SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:47709956G>C ENST00000233146.2 + 16 2896 c.2673G>C c.(2671-2673)gtG>gtC p.V891V MSH2_ENST00000406134.1_Intron|MSH2_ENST00000543555.1_Silent_p.V825V|MSH2_ENST00000461394.1_Intron NM_000251.2 NP_000242.1 P43246 MSH2_HUMAN mutS homolog 2 891 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.V891V(2)|p.0?(2)|p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TGTCCAAGGTGAAACAAATGC 0.313000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 11 42 0 0 0.010729 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503320 140503320 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:140503320G>A ENST00000194152.1 + 1 1740 c.1740G>A c.(1738-1740)gaG>gaA p.E580E NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 580 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.E580E(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGCGGCCGAGCCGGGCTACC 0.697000 38 29 0 0 0.014410 0 0 ID3 3399 broad.mit.edu 37 1 23885762 23885762 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:23885762C>T ENST00000374561.5 - 1 523 c.156G>A c.(154-156)cgG>cgA p.R52R ID3_ENST00000486541.1_5'UTR NM_002167.4 NP_002158.3 Q02535 ID3_HUMAN inhibitor of DNA binding 3, dominant negative helix-loop-helix protein 52 Helix-loop-helix motif. negative regulation of sequence-specific DNA binding transcription factor activity transcription corepressor activity p.R52R(2) central_nervous_system(1)|lung(3) 4 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) GTACCAGTTCCCGCAGGCGGG 0.642000 32 144 0 0 0.004289 0 0 KPRP 448834 broad.mit.edu 37 1 152733114 152733114 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:152733114C>G ENST00000368773.1 + 2 1108 c.1050C>G c.(1048-1050)atC>atG p.I350M KPRP_ENST00000606109.1_Missense_Mutation_p.I350M NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 350 Pro-rich. cytoplasm p.I350M(2) NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCTCCCATCAGACGCCGCT 0.652000 35 100 0 0 0.004878 0 0 CES1P1 51716 broad.mit.edu 37 16 55806422 55806422 + RNA SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr16:55806422T>A ENST00000571348.1 + 0 724 NR_003276.2 GAGGAGAAAGTGTCTCTGTTC 0.557000 6 25 0 0 0.001984 0 0 DDX42 11325 broad.mit.edu 37 17 61869884 61869884 + Translation_Start_Site SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:61869884G>A ENST00000359353.5 + 0 300 DDX42_ENST00000583590.1_Missense_Mutation_p.D112N|DDX42_ENST00000578681.1_Missense_Mutation_p.D112N|DDX42_ENST00000457800.2_Missense_Mutation_p.D112N|DDX42_ENST00000389924.2_Missense_Mutation_p.D112N Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding p.D112N(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 TTCTGACAGCGATGATGATCC 0.398000 15 102 0 0 0.012319 0 0 PIGM 93183 broad.mit.edu 37 1 160001137 160001137 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:160001137C>G ENST00000368090.2 - 1 646 c.393G>C c.(391-393)tgG>tgC p.W131C NM_145167.2 NP_660150.1 Q9H3S5 PIGM_HUMAN phosphatidylinositol glycan anchor biosynthesis, class M 131 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane p.W131C(2) kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGTTAAGAAGCCAAAAGACAC 0.562000 12 22 0 0 0.004007 0 0 TSSK3 81629 broad.mit.edu 37 1 32829545 32829545 + Silent SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:32829545G>C ENST00000373534.3 + 2 1000 c.495G>C c.(493-495)ctG>ctC p.L165L FAM229A_ENST00000415596.1_Intron NM_052841.3 NP_443073.1 Q96PN8 TSSK3_HUMAN testis-specific serine kinase 3 165 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.L165L(2) NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212) ACCGGGAGCTGAGCCAGACCT 0.572000 54 102 0 0 0.014410 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227472 56227472 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr20:56227472G>A ENST00000341744.3 - 4 820 c.501C>T c.(499-501)ctC>ctT p.L167L PMEPA1_ENST00000265626.4_Silent_p.L117L|PMEPA1_ENST00000395816.3_Silent_p.L117L|PMEPA1_ENST00000347215.4_Silent_p.L132L|PMEPA1_ENST00000395814.1_Silent_p.L117L NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 167 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding p.L167L(1) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 CCCGAAGCTGGAGGGTGCAGG 0.642000 14 68 0 0 0.001855 0 0 URB2 9816 broad.mit.edu 37 1 229794951 229794951 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:229794951G>A ENST00000258243.2 + 10 4618 c.4482G>A c.(4480-4482)caG>caA p.Q1494Q NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1494 nucleolus p.P1495S(1) 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 CCTCGCTGCAGCCGGGAATGA 0.502000 6 332 0 0 0.001168 0 0 FAM120B 84498 broad.mit.edu 37 6 170627094 170627094 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr6:170627094C>G ENST00000476287.1 + 2 724 c.616C>G c.(616-618)Ctc>Gtc p.L206V FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.L229V|FAM120B_ENST00000540480.1_Missense_Mutation_p.L218V NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 206 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.L206V(1) endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) CACCGTCATGCTCTGCAGAGA 0.527000 33 132 0 0 0.012213 0 0 GPR152 390212 broad.mit.edu 37 11 67219321 67219321 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:67219321G>T ENST00000312457.2 - 1 879 c.875C>A c.(874-876)cCc>cAc p.P292H NM_206997.1 NP_996880.1 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 292 integral to membrane|plasma membrane G-protein coupled receptor activity p.P292H(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GCAGAGGAAGGGGCTGAGGCA 0.652000 27 88 9.58827e-17 1.12496e-16 0.014410 1 0 S1PR1 1901 broad.mit.edu 37 1 101705580 101705580 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:101705580G>T ENST00000305352.6 + 2 1415 c.1040G>T c.(1039-1041)gGc>gTc p.G347V NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 347 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity p.G347V(1) NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 ATCATCGCCGGCATGGAATTC 0.552000 61 242 1.82294e-38 2.32278e-38 0.014410 1 0 INTS2 57508 broad.mit.edu 37 17 59988888 59988888 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:59988888C>G ENST00000444766.3 - 7 1046 c.971G>C c.(970-972)gGa>gCa p.G324A INTS2_ENST00000251334.6_Missense_Mutation_p.G316A NM_020748.2 NP_065799.1 Q9H0H0 INT2_HUMAN integrator complex subunit 2 324 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding p.G324A(2) NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 CACCTGCTGTCCATTTCGGAT 0.388000 26 30 0 0 0.004656 0 0 OSER1 51526 broad.mit.edu 37 20 42831602 42831602 + Splice_Site SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr20:42831602C>A ENST00000372970.2 - 5 370 c.191_splice c.e5+1 p.G64_splice OSER1_ENST00000255174.2_Splice_Site_p.G64_splice oxidative stress responsive serine-rich 1 p.G64W(2) AGCTCTTACCCGTGCCAACTG 0.383000 19 71 1.45105e-14 1.66941e-14 0.006122 1 0 LRCH4 4034 broad.mit.edu 37 7 100179736 100179736 + Silent SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr7:100179736G>T ENST00000310300.6 - 3 472 c.420C>A c.(418-420)gtC>gtA p.V140V LRCH4_ENST00000497245.1_5'UTR NM_002319.3 NP_002310.2 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 140 nervous system development PML body protein binding p.V140V(2) NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGACGATGAGGACCCTCAGGG 0.637000 27 61 5.77227e-19 6.94431e-19 0.008361 1 0 FAM184A 79632 broad.mit.edu 37 6 119345909 119345909 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr6:119345909C>T ENST00000338891.7 - 2 672 c.229G>A c.(229-231)Gaa>Aaa p.E77K FAM184A_ENST00000522284.1_5'UTR|FAM184A_ENST00000521531.1_Missense_Mutation_p.E77K|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_5'UTR|FAM184A_ENST00000352896.5_5'UTR NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 77 p.E77K(2) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 ATTTCTTCTTCATGAGCATCT 0.338000 33 21 0 0 0.010818 0 0 KCNK18 338567 broad.mit.edu 37 10 118969302 118969302 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr10:118969302C>A ENST00000334549.1 + 3 647 c.647C>A c.(646-648)aCa>aAa p.T216K NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 216 integral to membrane|plasma membrane p.T216K(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) AAACTTGGCACATGTCCTTCA 0.527000 48 130 3.16986e-14 3.62926e-14 0.014410 1 0 URB2 9816 broad.mit.edu 37 1 229794952 229794952 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:229794952C>T ENST00000258243.2 + 10 4619 c.4483C>T c.(4483-4485)Ccg>Tcg p.P1495S NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1495 nucleolus p.P1495S(1) 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 CTCGCTGCAGCCGGGAATGAG 0.502000 6 334 0 0 0.001168 0 0 PCNXL2 80003 broad.mit.edu 37 1 233134066 233134066 + Missense_Mutation SNP T T C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:233134066T>C ENST00000258229.8 - 32 5956 c.5722A>G c.(5722-5724)Agc>Ggc p.S1908G PCNXL2_ENST00000344698.2_Missense_Mutation_p.S560G NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1908 integral to membrane p.S1908G(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) TGTTCTGCGCTGCTCTCCTGG 0.632000 12 56 0 0 0.010729 0 0 ZNF208 7757 broad.mit.edu 37 19 22154332 22154332 + Silent SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:22154332G>T ENST00000397126.4 - 4 3652 c.3504C>A c.(3502-3504)ccC>ccA p.P1168P ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.P1040P(4)|p.P1168P(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CACATTTGTAGGGTTTCTCTA 0.363000 20 16 3.51602e-12 3.89391e-12 0.008871 1 0 DLX1 1745 broad.mit.edu 37 2 172952956 172952956 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:172952956G>C ENST00000361725.4 + 3 1191 c.739G>C c.(739-741)Gaa>Caa p.E247Q DLX1_ENST00000550686.1_3'UTR|DLX1_ENST00000341900.6_3'UTR NM_178120.4 NP_835221.2 P56177 DLX1_HUMAN distal-less homeobox 1 247 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|lung(4)|prostate(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.216) AGCGCACCAAGAAGCTATGCA 0.617000 7 342 0 0 0.004482 0 0 OR4C11 219429 broad.mit.edu 37 11 55371624 55371624 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:55371624C>A ENST00000302231.4 - 1 250 c.226G>T c.(226-228)Gcc>Tcc p.A76S NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A76S(2) endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 AATCTAGGGGCTGTGGAAGTT 0.398000 36 20 6.90743e-12 7.61423e-12 0.003755 1 0 LSMD1 84316 broad.mit.edu 37 17 7760666 7760666 + Missense_Mutation SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:7760666T>A ENST00000333775.5 - 1 506 c.76A>T c.(76-78)Agt>Tgt p.S26C LSMD1_ENST00000575208.1_Intron|LSMD1_ENST00000575771.1_Intron|LSMD1_ENST00000335155.5_Intron|LSMD1_ENST00000575071.1_Intron|LSMD1_ENST00000576861.1_Intron NM_032356.3 NP_115732.2 Q9BRA0 LSMD1_HUMAN LSM domain containing 1 0 cytoplasm|nucleus endometrium(1)|lung(2)|ovary(1) 4 all_cancers(10;0.11)|Prostate(122;0.219) GCTGCTTGACTGCCCCTCAGT 0.652000 83 48 0 0 0.014410 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431299 140431299 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:140431299G>C ENST00000306549.3 + 1 321 c.244G>C c.(244-246)Gga>Cga p.G82R NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 82 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G82R(2) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGCAAGACGGGAGATTTGTT 0.572000 22 61 0 0 0.014323 0 0 JADE3 9767 broad.mit.edu 37 X 46913983 46913983 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chrX:46913983C>T ENST00000218343.4 + 9 1694 c.1396C>T c.(1396-1398)Cac>Tac p.H466Y PHF16_ENST00000397189.1_Missense_Mutation_p.H466Y NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 466 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding p.H466Y(2) NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 GGAAAGCATTCACACTCGAAT 0.453000 18 16 0 0 0.004990 0 0 FMO3 2328 broad.mit.edu 37 1 171083381 171083381 + Missense_Mutation SNP A A C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:171083381A>C ENST00000367755.4 + 7 1173 c.1062A>C c.(1060-1062)aaA>aaC p.K354N FMO3_ENST00000392085.2_Missense_Mutation_p.K354N|FMO3_ENST00000542847.1_Missense_Mutation_p.K334N|FMO3_ENST00000538429.1_Missense_Mutation_p.K291N NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 354 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity p.K354N(2) endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTTTATTTAAAGGAGTATTTC 0.443000 25 81 0 0 0.003954 0 0 LRP5 4041 broad.mit.edu 37 11 68115636 68115636 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:68115636A>G ENST00000294304.7 + 2 519 c.413A>G c.(412-414)aAt>aGt p.N138S NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 138 Beta-propeller 1. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity p.N138S(1) autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GCCAACCTCAATGGCACATCC 0.647000 112 190 0 0 0.014410 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74622174 74622174 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:74622174G>A ENST00000156626.7 - 7 1618 c.1419C>T c.(1417-1419)caC>caT p.H473H NM_018414.3 NP_060884.1 Q9NSC7 SIA7A_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 473 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity p.H473H(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 CCTGGGGTCTGTGCCTGTGGT 0.547000 60 227 0 0 0.014410 0 0 FSIP2 401024 broad.mit.edu 37 2 186678562 186678562 + Silent SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:186678562G>C ENST00000343098.5 + 18 20385 c.20385G>C c.(20383-20385)acG>acC p.T6795T FSIP2_ENST00000424728.1_Silent_p.T6706T NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 p.T1404T(4) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CACTAAGCACGAGCAGCCTGA 0.358000 33 13 0 0 0.013726 0 0 COL7A1 1294 broad.mit.edu 37 3 48626185 48626185 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:48626185G>C ENST00000328333.8 - 19 2584 c.2477C>G c.(2476-2478)aCa>aGa p.T826R COL7A1_ENST00000454817.1_Missense_Mutation_p.T826R NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 826 Fibronectin type-III 7.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGCAGAGTCTGTGTTTCCTGG 0.607000 52 55 0 0 0.014410 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626979 108626979 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:108626979G>A ENST00000264047.2 + 9 1681 c.1405G>A c.(1405-1407)Gat>Aat p.D469N SLC5A7_ENST00000540517.1_Missense_Mutation_p.D364N|SLC5A7_ENST00000409059.1_Missense_Mutation_p.D469N NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 469 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity p.D469N(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TTACCCTGATGATAATGGTAT 0.398000 16 114 0 0 0.004007 0 0 HERC1 8925 broad.mit.edu 37 15 64045267 64045267 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr15:64045267C>A ENST00000443617.2 - 8 1879 c.1792G>T c.(1792-1794)Gat>Tat p.D598Y NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 598 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity p.D598Y(4) NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CTGTTGGTATCACCATGACCA 0.343000 10 53 7.48243e-07 7.95218e-07 0.006214 1 0 KRT74 121391 broad.mit.edu 37 12 52967174 52967174 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:52967174C>T ENST00000549343.1 - 1 426 c.388G>A c.(388-390)Gac>Aac p.D130N KRT74_ENST00000305620.2_Missense_Mutation_p.D130N Q7RTS7 K2C74_HUMAN keratin 74 130 Head. keratin filament structural molecule activity p.D130N(2) kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) ATCTCAGGGTCCAGCTCCACG 0.602000 39 230 0 0 0.010771 0 0 SRSF11 9295 broad.mit.edu 37 1 70687463 70687463 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:70687463G>C ENST00000370950.3 + 2 226 c.144G>C c.(142-144)caG>caC p.Q48H SRSF11_ENST00000405432.1_Missense_Mutation_p.Q48H|SRSF11_ENST00000370951.1_Missense_Mutation_p.Q48H|SRSF11_ENST00000454435.2_Missense_Mutation_p.Q48H|SRSF11_ENST00000436161.2_Missense_Mutation_p.Q48H Q05519 SRS11_HUMAN serine/arginine-rich splicing factor 11 48 RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding p.Q48H(2) large_intestine(3)|ovary(2)|skin(1) 6 GCTCTGAGCAGATGCGGACTC 0.647000 101 109 0 0 0.014410 0 0 TNN 63923 broad.mit.edu 37 1 175049473 175049473 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:175049473G>T ENST00000239462.4 + 4 1072 c.959G>T c.(958-960)gGt>gTt p.G320V NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 320 Fibronectin type-III 1. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix p.G320V(2) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GAGATTCTTGGTTTGCTGCCT 0.537000 39 136 2.40579e-17 2.85086e-17 0.006230 1 0 FAM47B 170062 broad.mit.edu 37 X 34962140 34962140 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chrX:34962140C>T ENST00000329357.5 + 1 1228 c.1192C>T c.(1192-1194)Cgc>Tgc p.R398C NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 398 p.R398C(2) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 GCCCCATCTCCGCCTGGTGCT 0.582000 47 18 0 0 0.014410 0 0 MROH7 374977 broad.mit.edu 37 1 55175634 55175634 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:55175634G>A ENST00000421030.2 + 24 4031 c.3746G>A c.(3745-3747)aGa>aAa p.R1249K MROH7_ENST00000409996.1_Missense_Mutation_p.R817K|MROH7_ENST00000454855.2_Missense_Mutation_p.R767K|MROH7_ENST00000414150.2_Intron NM_001039464.2 NP_001034553.2 maestro heat-like repeat family member 7 p.R1246K(2)|p.R1249K(2) GATAACTTGAGACATGACCCA 0.572000 25 116 0 0 0.006320 0 0 ZNF852 285346 broad.mit.edu 37 3 44541963 44541963 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:44541963G>A ENST00000436261.1 - 4 466 c.306C>T c.(304-306)ccC>ccT p.P102P ZNF852_ENST00000489411.1_5'UTR B6EU87 B6EU87_HUMAN zinc finger protein 852 102 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.P102P(4)|p.P52P(2) endometrium(2)|kidney(1)|lung(5) 8 CTTCATTTGAGGGTTGTCCTT 0.408000 27 17 0 0 0.004656 0 0 C9orf131 138724 broad.mit.edu 37 9 35042966 35042966 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr9:35042966C>A ENST00000312292.5 + 2 387 c.340C>A c.(340-342)Ctg>Atg p.L114M C9orf131_ENST00000354479.5_Missense_Mutation_p.L41M|C9orf131_ENST00000421362.2_Missense_Mutation_p.L66M NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 114 p.L114M(2) cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) cgaggCATCTCTGGATCCACT 0.557000 54 43 2.01872e-29 2.5049e-29 0.014410 1 0 FSCB 84075 broad.mit.edu 37 14 44974297 44974297 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr14:44974297C>A ENST00000340446.4 - 1 2185 c.1894G>T c.(1894-1896)Gct>Tct p.A632S NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 632 Ala-rich. cilium p.A632S(1) breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) TGAACTTCAGCGGGGGCCTCC 0.637000 11 231 1.10513e-12 1.22966e-12 0.014323 1 0 SHKBP1 92799 broad.mit.edu 37 19 41086690 41086690 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:41086690G>T ENST00000291842.5 + 9 741 c.692G>T c.(691-693)aGc>aTc p.S231I SHKBP1_ENST00000600733.1_Missense_Mutation_p.S231I NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 231 voltage-gated potassium channel complex voltage-gated potassium channel activity p.S231I(1) breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GTGTTTTCCAGCCCCCGCCTG 0.632000 73 143 2.43199e-30 3.04964e-30 0.014410 1 0 ATMIN 23300 broad.mit.edu 37 16 81069732 81069732 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr16:81069732G>T ENST00000299575.4 + 1 281 c.257G>T c.(256-258)tGc>tTc p.C86F NM_015251.2 NP_056066.2 O43313 ATMIN_HUMAN ATM interactor 86 response to DNA damage stimulus nucleus zinc ion binding p.C86F(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 AACATCCTGTGCACCGTGCGC 0.736000 8 32 0.000157383 0.000162881 0.003080 1 0 PLXND1 23129 broad.mit.edu 37 3 129308193 129308193 + Splice_Site SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:129308193C>T ENST00000393239.1 - 2 1667 c.e2+1 PLXND1_ENST00000324093.4_Splice_Site Q9Y4D7 PLXD1_HUMAN plexin D1 axon guidance integral to membrane|intracellular|plasma membrane p.?(1) PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 ACCATACCTACCTTGAGAAGC 0.667000 10 27 0 0 0.001855 0 0 LGI1 9211 broad.mit.edu 37 10 95549856 95549856 + Splice_Site SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr10:95549856G>T ENST00000371418.4 + 5 692 c.431_splice c.e5-1 p.L144_splice LGI1_ENST00000371413.3_Splice_Site_p.L144_splice|LGI1_ENST00000542308.1_Splice_Site_p.L96_splice NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 144 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding p.L144F(1) central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) TTTTTTCCAGGAGCCTTGCAA 0.338000 9 33 2.17888e-05 2.27486e-05 0.006214 1 0 FTH1P3 2498 broad.mit.edu 37 5 17354234 17354234 + RNA SNP C C T rs2652638 by1000genomes TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:17354234C>T ENST00000511821.1 + 0 101 FTH1P10_ENST00000401830.3_RNA CACACTCCATCGCATTCAGCC 0.468000 6 167 0 0 0.002450 0 0 C1orf222 339457 broad.mit.edu 37 1 1920356 1920356 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:1920356C>T ENST00000434971.2 - 3 156 c.124G>A c.(124-126)Gag>Aag p.E42K Q69YW0 CA222_HUMAN chromosome 1 open reading frame 222 0 p.E42K(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1) 11 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) ACGTCATCCTCAGCTTCCTGT 0.532000 12 59 0 0 0.004990 0 0 MYO7B 4648 broad.mit.edu 37 2 128366435 128366435 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:128366435G>A ENST00000389524.4 + 22 2849 c.2796G>A c.(2794-2796)caG>caA p.Q932Q MYO7B_ENST00000428314.1_Silent_p.Q932Q|MYO7B_ENST00000409816.2_Silent_p.Q932Q Q6PIF6 MYO7B_HUMAN myosin VIIB 932 apical plasma membrane|myosin complex actin binding|ATP binding|motor activity p.Q932Q(4) breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) AGGAGGGCCAGGCCTCGCCGC 0.622000 15 20 0 0 0.014323 0 0 SPAM1 6677 broad.mit.edu 37 7 123599915 123599915 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr7:123599915G>A ENST00000340011.5 + 5 1779 c.1422G>A c.(1420-1422)gaG>gaA p.E474E SPAM1_ENST00000460182.1_Silent_p.E474E|SPAM1_ENST00000223028.7_Silent_p.E474E|SPAM1_ENST00000439500.1_Silent_p.E474E|SPAM1_ENST00000402183.2_Silent_p.E474E NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 474 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 p.E474E(4) 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) CTCCCATGGAGACAGAAGAAC 0.383000 16 46 0 0 0.004007 0 0 KCNH7 90134 broad.mit.edu 37 2 163253285 163253285 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:163253285C>G ENST00000332142.5 - 11 2677 c.2578G>C c.(2578-2580)Gag>Cag p.E860Q NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 860 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.E860Q(2) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) AAAGTCAACTCTAGGTTTGTT 0.363000 16 22 0 0 0.004007 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57080108 57080108 + Missense_Mutation SNP A A G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:57080108A>G ENST00000532437.1 - 4 2365 c.2054T>C c.(2053-2055)cTg>cCg p.L685P TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.L685P Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 685 Acidic.|Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding p.L685P(2) breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) GAGGTCGTCCAGCCAGCGGGA 0.647000 47 78 0 0 0.014410 0 0 ABCA8 10351 broad.mit.edu 37 17 66933233 66933233 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr17:66933233C>G ENST00000269080.2 - 4 462 c.325G>C c.(325-327)Gat>Cat p.D109H ABCA8_ENST00000586539.1_Missense_Mutation_p.D109H|ABCA8_ENST00000430352.2_Missense_Mutation_p.D109H NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 109 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.D109H(2) breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) CTTTCCTCATCTGGCAGTCCC 0.338000 21 29 0 0 0.008871 0 0 POLR1A 25885 broad.mit.edu 37 2 86305044 86305044 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:86305044C>T ENST00000263857.6 - 11 1696 c.1318G>A c.(1318-1320)Gct>Act p.A440T POLR1A_ENST00000409681.1_Missense_Mutation_p.A440T O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 440 YA -> ST (in Ref. 1; AAC99959). termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding p.A440T(2) NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GAGCGCGCAGCGTAGTCCACT 0.453000 48 215 0 0 0.014410 0 0 SLC35A1 10559 broad.mit.edu 37 6 88218187 88218187 + Silent SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr6:88218187G>A ENST00000369552.4 + 6 651 c.624G>A c.(622-624)gtG>gtA p.V208V SLC35A1_ENST00000369556.3_Intron|SLC35A1_ENST00000464978.1_3'UTR|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000369557.5_Intron|SLC35A1_ENST00000544441.1_Silent_p.V74V NM_006416.4 NP_006407.1 P78382 S35A1_HUMAN solute carrier family 35 (CMP-sialic acid transporter), member A1 208 carbohydrate metabolic process|protein modification process Golgi membrane|integral to plasma membrane CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity p.V208V(2) breast(1)|kidney(3)|large_intestine(2)|lung(3) 9 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0429) CTCTTTGGGTGAGAAACATTC 0.294000 16 14 0 0 0.010504 0 0 PI15 51050 broad.mit.edu 37 8 75756265 75756265 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr8:75756265G>A ENST00000260113.2 + 3 502 c.323G>A c.(322-324)tGc>tAc p.C108Y RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.C108Y NM_015886.3 NP_056970.1 O43692 PI15_HUMAN peptidase inhibitor 15 108 extracellular region peptidase inhibitor activity p.C108Y(2) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1) 30 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) GCGGCTACTTGCATTTGGGAC 0.428000 29 128 0 0 0.008361 0 0 ZNF566 84924 broad.mit.edu 37 19 36967453 36967453 + Nonsense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:36967453G>A ENST00000454319.1 - 2 141 c.7C>T c.(7-9)Cag>Tag p.Q3* ZNF566_ENST00000493391.1_5'UTR|ZNF566_ENST00000472909.2_5'UTR|ZNF566_ENST00000424129.2_Nonsense_Mutation_p.Q3*|ZNF566_ENST00000392170.2_Nonsense_Mutation_p.Q3*|ZNF566_ENST00000434377.2_Nonsense_Mutation_p.Q3* NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q3*(2) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) TATCTCACCTGAGCCATGGCT 0.398000 13 66 0 0 0.001855 0 0 SPACA1 81833 broad.mit.edu 37 6 88773828 88773828 + Nonsense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr6:88773828A>T ENST00000237201.1 + 6 739 c.622A>T c.(622-624)Aga>Tga p.R208* SPACA1_ENST00000462690.1_Intron NM_030960.2 NP_112222.1 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 208 integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) ATTGCAGATGAGAAGATCAAG 0.323000 5 54 0 0 0.000602 0 0 TSPAN3 10099 broad.mit.edu 37 15 77348204 77348204 + Translation_Start_Site SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr15:77348204A>T ENST00000561277.1 - 0 311 TSPAN3_ENST00000558394.1_Intron|TSPAN3_ENST00000558745.1_De_novo_Start_OutOfFrame|TSPAN3_ENST00000424443.3_Splice_Site_p.F22_splice|TSPAN3_ENST00000267970.4_Splice_Site_p.F86_splice|TSPAN3_ENST00000559494.1_Intron|TSPAN3_ENST00000346495.2_Intron O60637 TSN3_HUMAN tetraspanin 3 integral to membrane p.F86Y(2) kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1) 10 all cancers(203;1.14e-19) GATGATGACAAACTGTAAGAA 0.289000 41 86 0 0 0.007835 0 0 PI15 51050 broad.mit.edu 37 8 75756266 75756266 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr8:75756266C>T ENST00000260113.2 + 3 503 c.324C>T c.(322-324)tgC>tgT p.C108C RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Silent_p.C108C NM_015886.3 NP_056970.1 O43692 PI15_HUMAN peptidase inhibitor 15 108 extracellular region peptidase inhibitor activity p.C108Y(2) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1) 30 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) CGGCTACTTGCATTTGGGACC 0.433000 29 128 0 0 0.007291 0 0 LRP2 4036 broad.mit.edu 37 2 170148767 170148767 + Silent SNP T T A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:170148767T>A ENST00000263816.3 - 7 1050 c.765A>T c.(763-765)ggA>ggT p.G255G LRP2_ENST00000443831.1_Silent_p.G255G NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 255 LDL-receptor class A 6. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.G255G(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CCTTACCACATCCATCTTCAT 0.418000 20 126 0 0 0.002780 0 0 CLSTN2 64084 broad.mit.edu 37 3 139894884 139894884 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:139894884C>T ENST00000458420.3 + 2 391 c.201C>T c.(199-201)gcC>gcT p.A67A NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 67 Cadherin 1. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding p.A67A(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CACTGGTAGCCCTGGATAAAG 0.468000 HNSCC(16;0.037) 8 108 0 0 0.004482 0 0 RBM15 64783 broad.mit.edu 37 1 110882847 110882847 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:110882847G>A ENST00000369784.3 + 1 1720 c.820G>A c.(820-822)Ggg>Agg p.G274R RBM15_ENST00000487146.2_Missense_Mutation_p.G274R|RBM15_ENST00000602849.1_Missense_Mutation_p.G274R NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 274 interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding p.G274R(1) ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) CAGTGTGGTCGGGGCCTCTGT 0.597000 T MKL1 acute megakaryocytic leukemia 54 178 0 0 0.014410 0 0 OCA2 4948 broad.mit.edu 37 15 28211923 28211923 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr15:28211923A>T ENST00000354638.3 - 15 1704 c.1549T>A c.(1549-1551)Tgc>Agc p.C517S OCA2_ENST00000382996.2_Missense_Mutation_p.C517S|OCA2_ENST00000353809.5_Missense_Mutation_p.C493S NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 517 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding p.C517S(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AGAACAAGGCAAATCCCAATG 0.493000 Oculocutaneous Albinism 20 47 0 0 0.012319 0 0 RECK 8434 broad.mit.edu 37 9 36112407 36112407 + Missense_Mutation SNP A A T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr9:36112407A>T ENST00000377966.3 + 16 2560 c.1994A>T c.(1993-1995)cAg>cTg p.Q665L NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 665 Kazal-like 1. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity p.Q665L(2) cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) CAAGACCATCAGTTTGAGTTT 0.463000 43 68 0 0 0.014410 0 0 EPRS 2058 broad.mit.edu 37 1 220170591 220170591 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:220170591C>A ENST00000366923.3 - 18 2544 c.2275G>T c.(2275-2277)Gtt>Ttt p.V759F EPRS_ENST00000464052.1_5'UTR NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 759 Glutamyl-tRNA synthetase.|WHEP-TRS 1. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding p.V759F(1) breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TCTCCTTGAACAGCCACTCTA 0.388000 34 36 3.90053e-15 4.53149e-15 0.012213 1 0 RASAL1 8437 broad.mit.edu 37 12 113559391 113559391 + Missense_Mutation SNP C C G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:113559391C>G ENST00000546530.1 - 6 636 c.351G>C c.(349-351)caG>caC p.Q117H RASAL1_ENST00000261729.5_Missense_Mutation_p.Q117H|RASAL1_ENST00000446861.3_Missense_Mutation_p.Q117H|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.Q117H NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 117 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity p.Q117H(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 AGATCTCACCCTGCACTTCTG 0.562000 99 105 0 0 0.014410 0 0 OCA2 4948 broad.mit.edu 37 15 28202874 28202874 + Missense_Mutation SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr15:28202874C>A ENST00000354638.3 - 16 1799 c.1644G>T c.(1642-1644)aaG>aaT p.K548N OCA2_ENST00000382996.2_Missense_Mutation_p.K548N|OCA2_ENST00000353809.5_Missense_Mutation_p.K524N NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 548 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding p.K548N(2)|p.K548K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GAATCTCGTGCTTCAGTTCTG 0.612000 Oculocutaneous Albinism 34 56 1.414e-09 1.53724e-09 0.003755 1 0 DST 667 broad.mit.edu 37 6 56480781 56480781 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr6:56480781C>T ENST00000370765.6 - 24 7591 c.7484G>A c.(7483-7485)gGc>gAc p.G2495D DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1791 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GTACTTTTTGCCAGTAAGAGG 0.507000 5 152 0 0 0.001168 0 0 EPRS 2058 broad.mit.edu 37 1 220156531 220156531 + Splice_Site SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:220156531C>T ENST00000366923.3 - 22 3569 c.3300_splice c.e22+1 p.E1100_splice NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 1100 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding p.E1100E(1) breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) GCTCACTTACCTCTGGGGCAA 0.343000 46 54 0 0 0.013114 0 0 HNRNPC 3183 broad.mit.edu 37 14 21699132 21699132 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr14:21699132G>A ENST00000320084.7 - 3 580 c.341C>T c.(340-342)cCg>cTg p.P114L HNRNPC_ENST00000336053.6_Intron|HNRNPC_ENST00000449098.1_Intron|HNRNPC_ENST00000553300.1_Intron|HNRNPC_ENST00000554969.1_Intron|HNRNPC_ENST00000430246.2_Intron|HNRNPC_ENST00000420743.2_Missense_Mutation_p.P114L|HNRNPC_ENST00000555309.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000557201.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000556897.1_Intron|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000554455.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000556513.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000553753.1_Intron|HNRNPC_ENST00000556142.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000555883.1_Intron|HNRNPC_ENST00000555914.1_Intron NM_001077442.1 NP_001070910.1 P07910 HNRPC_HUMAN heterogeneous nuclear ribonucleoprotein C (C1/C2) 114 catalytic step 2 spliceosome|nucleoplasm identical protein binding|nucleotide binding|RNA binding p.P114L(1) breast(1)|liver(1)|lung(6)|skin(1) 9 all_cancers(95;0.00176) Epithelial(56;1.08e-06)|all cancers(55;8.95e-06) GBM - Glioblastoma multiforme(265;0.00783) TAGAGGGGACGGAGAAGGGTG 0.478000 19 168 0 0 0.007413 0 0 RTBDN 83546 broad.mit.edu 37 19 12939476 12939476 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:12939476C>T ENST00000393233.2 - 5 785 c.236G>A c.(235-237)aGg>aAg p.R79K CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000458671.2_Silent_p.Q120Q|RTBDN_ENST00000592204.1_Silent_p.Q130Q|RTBDN_ENST00000322912.5_Silent_p.Q152Q|RTBDN_ENST00000589272.1_Silent_p.Q152Q NM_001270440.1 NP_001257369.1 Q9BSG5 RTBDN_HUMAN retbindin 0 extracellular region p.Q152Q(1) kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12 CCTACCAGGCCTGGCAGAGCT 0.647000 20 55 0 0 0.003954 0 0 BAGE2 85319 broad.mit.edu 37 21 11039045 11039045 + RNA SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr21:11039045G>C ENST00000470054.1 - 0 1158 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGTCATTTCAGAGTCCATCAA 0.373000 30 420 0 0 0.008361 0 0 MYCBP2 23077 broad.mit.edu 37 13 77847609 77847609 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr13:77847609G>C ENST00000407578.2 - 5 1209 c.943C>G c.(943-945)Cag>Gag p.Q315E MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.Q277E|MYCBP2_ENST00000357337.6_Missense_Mutation_p.Q277E NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 277 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding p.Q277E(4)|p.Q315E(2) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TGAAATACCTGAATAGTTTGG 0.398000 14 45 0 0 0.004990 0 0 KLHL25 64410 broad.mit.edu 37 15 86311732 86311732 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr15:86311732G>T ENST00000337975.5 - 2 1584 c.1310C>A c.(1309-1311)gCc>gAc p.A437D KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.A437D NM_022480.3 NP_071925.2 Q9H0H3 ENC2_HUMAN kelch-like family member 25 437 cytoplasm p.A437D(2) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 25 CACCACTGCGGCATTGCTGAC 0.587000 33 130 4.74835e-14 5.35886e-14 0.010818 1 0 DRD2 1813 broad.mit.edu 37 11 113286252 113286252 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:113286252G>T ENST00000362072.3 - 5 958 c.614C>A c.(613-615)aCc>aAc p.T205N DRD2_ENST00000538967.1_Missense_Mutation_p.T205N|DRD2_ENST00000346454.3_Missense_Mutation_p.T205N|DRD2_ENST00000544518.1_Missense_Mutation_p.T204N|DRD2_ENST00000542968.1_Missense_Mutation_p.T205N|DRD2_ENST00000355319.2_Missense_Mutation_p.T205N|DRD2_ENST00000535984.1_5'UTR NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 205 activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding p.T205N(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) GACCAGCAGGGTGACAATGAA 0.592000 72 125 1.79293e-35 2.27233e-35 0.014410 1 0 TOMM70A 9868 broad.mit.edu 37 3 100100548 100100548 + Silent SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:100100548C>A ENST00000284320.5 - 5 1243 c.795G>T c.(793-795)acG>acT p.T265T NM_014820.4 NP_055635.3 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) 265 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity p.T265T(2) endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 32 TGATATCATCCGTGAAAGAAC 0.378000 42 59 6.45866e-13 7.22029e-13 0.008740 1 0 TTBK1 84630 broad.mit.edu 37 6 43225669 43225669 + Silent SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr6:43225669C>T ENST00000259750.4 + 10 1064 c.981C>T c.(979-981)ccC>ccT p.P327P TTBK1_ENST00000304139.5_Silent_p.P276P NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 327 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.P327P(1) breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CTACCCCGCCCCAGCAGAACA 0.627000 44 31 0 0 0.014410 0 0 SEZ6L 23544 broad.mit.edu 37 22 26747039 26747039 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr22:26747039G>T ENST00000529632.2 + 12 2625 c.2429G>T c.(2428-2430)gGa>gTa p.G810V SEZ6L_ENST00000248933.6_Missense_Mutation_p.G810V|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G810V|SEZ6L_ENST00000411842.2_Missense_Mutation_p.G7V|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G583V|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G810V|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G583V NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 810 Sushi 4. endoplasmic reticulum membrane|integral to membrane p.G810V(2) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 ACCGACCCCGGAGAGGTGGAT 0.527000 31 214 9.8876e-21 1.20172e-20 0.004878 1 0 CEP57 9702 broad.mit.edu 37 11 95546154 95546154 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:95546154G>C ENST00000325542.5 + 3 499 c.261G>C c.(259-261)agG>agC p.R87S CEP57_ENST00000537677.1_Missense_Mutation_p.R60S|CEP57_ENST00000536587.1_3'UTR|CEP57_ENST00000325486.5_Missense_Mutation_p.R87S|CEP57_ENST00000538658.1_Missense_Mutation_p.R87S|CEP57_ENST00000541150.1_Missense_Mutation_p.R78S NM_001243776.1|NM_014679.4 NP_001230705.1|NP_055494.2 Q86XR8 CEP57_HUMAN centrosomal protein 57kDa 87 centrosome localization domain (CLD) (By similarity). fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development centrosome|cytosol|Golgi apparatus|microtubule|nucleus fibroblast growth factor binding|protein homodimerization activity p.R87S(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AACTTGAGAGGATTCAGGCAG 0.368000 Mosaic Variegated Aneuploidy Syndrome 26 124 0 0 0.003330 0 0 KIAA1456 57604 broad.mit.edu 37 8 12878692 12878692 + Silent SNP C C A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr8:12878692C>A ENST00000524591.2 + 5 993 c.504C>A c.(502-504)ctC>ctA p.L168L KIAA1456_ENST00000447063.2_Intron NM_001099677.1|NM_020844.2 NP_001093147.1|NP_065895.2 Q9P272 K1456_HUMAN KIAA1456 168 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 GTTCCCAGCTCTTCTCAGAGT 0.507000 16 53 1.96292e-10 2.14384e-10 0.010504 1 0 PIGG 54872 broad.mit.edu 37 4 515659 515659 + Missense_Mutation SNP G G C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr4:515659G>C ENST00000453061.2 + 8 1649 c.1543G>C c.(1543-1545)Gcc>Ccc p.A515P PIGG_ENST00000504346.1_Missense_Mutation_p.A426P|PIGG_ENST00000509768.1_Missense_Mutation_p.A426P|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000536264.1_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.A382P|PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.A507P NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 515 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity p.A507P(2) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 GATGGTGCTGGCCTCGGCGCT 0.587000 30 81 0 0 0.009535 0 0 ZNF141 7700 broad.mit.edu 37 4 367007 367007 + Missense_Mutation SNP G G A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr4:367007G>A ENST00000240499.7 + 4 930 c.781G>A c.(781-783)Ggc>Agc p.G261S ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron NM_003441.2 NP_003432.1 Q15928 ZN141_HUMAN zinc finger protein 141 261 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding p.G261S(2) breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 18 TGAAGAATGTGGCAAAGCCTT 0.368000 91 81 0 0 0.014410 0 0 RYR2 6262 broad.mit.edu 37 1 237995884 237995884 + Missense_Mutation SNP G G T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:237995884G>T ENST00000366574.2 + 105 15158 c.14841G>T c.(14839-14841)agG>agT p.R4947S RYR2_ENST00000360064.6_Missense_Mutation_p.R4953S|RYR2_ENST00000542537.1_Missense_Mutation_p.R4931S|RYR2_ENST00000462585.1_3'UTR NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4947 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 p.R4945S(2) 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) ATCAAGAAAGGTGTTGGGAAT 0.388000 17 21 8.34094e-07 8.78579e-07 0.008871 1 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658179 72658179 + RNA SNP T T C rs147293416 by1000genomes TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr7:72658179T>C ENST00000425256.1 - 0 1732 NR_002164.1 cagagtgatttcggatgaatt 0.507000 4 104 0 0 0.000602 0 0 EXPH5 23086 broad.mit.edu 37 11 108380461 108380461 + Missense_Mutation SNP C C T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr11:108380461C>T ENST00000265843.4 - 6 5883 c.5773G>A c.(5773-5775)Gat>Aat p.D1925N EXPH5_ENST00000525344.1_Missense_Mutation_p.D1918N|EXPH5_ENST00000443411.1_Missense_Mutation_p.D1737N|EXPH5_ENST00000428840.1_Missense_Mutation_p.D1849N NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1925 intracellular protein transport Rab GTPase binding p.D1925N(2) breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTCCTCAAATCATCTTTTAGG 0.408000 47 64 0 0 0.010771 0 0 VPS13D 55187 broad.mit.edu 37 1 12422832 12422833 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:12422832_12422833insC ENST00000358136.3 + 51 10328_10329 c.10198_10199insC c.(10198-10200)cccfs p.P3400fs VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3399 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGTCATCTTTGCCCCCCGTTAC 0.426 12 711 --- --- --- --- EIF4G3 8672 broad.mit.edu 37 1 21306904 21306905 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:21306904_21306905insG ENST00000602326.1 - 8 851_852 c.268_269insC c.(268-270)acafs p.T90fs EIF4G3_ENST00000400422.1_Frame_Shift_Ins_p.T83fs|EIF4G3_ENST00000374937.3_Frame_Shift_Ins_p.T90fs|EIF4G3_ENST00000374927.4_Frame_Shift_Ins_p.T83fs|EIF4G3_ENST00000356916.3_Frame_Shift_Ins_p.T94fs|EIF4G3_ENST00000374935.3_Frame_Shift_Ins_p.T83fs|EIF4G3_ENST00000264211.8_Frame_Shift_Ins_p.T83fs NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 83 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TGGATATTGTTGGGGGGGCCCA 0.441 8 73 --- --- --- --- LUZP1 7798 broad.mit.edu 37 1 23417944 23417945 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:23417944_23417945insG ENST00000302291.4 - 4 3611_3612 c.2810_2811insC c.(2809-2811)cacfs p.H937fs LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs Q86V48 LUZP1_HUMAN leucine zipper protein 1 937 nucleus NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) CTATTCGAGTTGGGGGGTCTTC 0.495 13 894 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACTG 0.515 11 585 --- --- --- --- FABP3 2170 broad.mit.edu 37 1 31842272 31842273 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:31842272_31842273insC ENST00000373713.2 - 2 266_267 c.205_206insG c.(205-207)ggafs p.G69fs FABP3_ENST00000497275.1_5'UTR NM_004102.3 NP_004093.1 P05413 FABPH_HUMAN fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) 69 negative regulation of cell proliferation large_intestine(1)|lung(2)|ovary(2) 5 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149) ATCGAACTCCACCCCCAACTTA 0.475 7 1664 --- --- --- --- IQCC 55721 broad.mit.edu 37 1 32673442 32673443 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:32673442_32673443insG ENST00000537469.1 + 5 1447_1448 c.1400_1401insG c.(1399-1401)tggfs p.W467fs IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs NM_001160042.1 NP_001153514.1 Q4KMZ1 IQCC_HUMAN IQ motif containing C 387 endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GATGGTACCTTGGGGGGGCCAG 0.550 8 127 --- --- --- --- AGO4 192670 broad.mit.edu 37 1 36306816 36306817 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:36306816_36306817insC ENST00000373210.3 + 14 2020_2021 c.1775_1776insC c.(1774-1776)cccfs p.P592fs NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 GATGTCACACACCCCCCAGCAG 0.554 7 320 --- --- --- --- CSF3R 1441 broad.mit.edu 37 1 36935322 36935323 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:36935322_36935323insG ENST00000373103.1 - 11 1951_1952 c.1404_1405insC c.(1402-1407)ccgcgcfs p.R469fs CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs NM_156039.3 NP_724781.1 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor (granulocyte) 469 Fibronectin type-III 4. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TTGCTCGCGCTGGGGGGGCCCA 0.634 9 190 --- --- --- --- ZMYND12 84217 broad.mit.edu 37 1 42898878 42898879 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:42898878_42898879insG ENST00000372565.3 - 7 1179_1180 c.910_911insC c.(910-912)aaafs p.K304fs ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs|ZMYND12_ENST00000475426.1_5'UTR NM_032257.4 NP_115633.3 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 304 intracellular zinc ion binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2) 17 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GATGGTTTTTTGGGGGGCTTTG 0.411 9 432 --- --- --- --- KDM4A 9682 broad.mit.edu 37 1 44156564 44156565 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:44156564_44156565insC ENST00000372396.3 + 14 2220_2221 c.2086_2087insC c.(2086-2088)cccfs p.P696fs NM_014663.2 NP_055478.2 O75164 KDM4A_HUMAN lysine (K)-specific demethylase 4A 696 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 TTCAGATTTAGCCCCCCAGAAG 0.470 11 400 --- --- --- --- PIK3R3 8503 broad.mit.edu 37 1 46546323 46546324 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:46546323_46546324insC ENST00000262741.5 - 2 894_895 c.205_206insG c.(205-207)tatfs p.Y69fs PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000540385.1_Frame_Shift_Ins_p.Y115fs|PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.Y69fs NM_003629.3 NP_003620.3 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 (gamma) 69 SH2 1. insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding endometrium(1)|large_intestine(5)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(166;0.155) CCTTGAAATATCCCCCCAGTAC 0.381 10 1208 --- --- --- --- FAM151A 338094 broad.mit.edu 37 1 55081756 55081757 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:55081756_55081757insG ENST00000302250.2 - 3 511_512 c.351_352insC c.(349-354)ccctatfs p.Y118fs ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 118 integral to membrane p.T118fs*43(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 CTGTAGATAGTGGGGGGGTGTG 0.594 17 271 --- --- --- --- C1orf168 199920 broad.mit.edu 37 1 57219538 57219538 + Frame_Shift_Del DEL C C - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:57219538delC ENST00000343433.6 - 8 1281 c.1201delG c.(1201-1203)aafs p.E401fs C1orf168_ENST00000484327.1_Intron NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 401 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 GAATATGGTTCCTTTTCTGTG 0.353 97 407 --- --- --- --- FGGY 55277 broad.mit.edu 37 1 59812016 59812017 + Frame_Shift_Ins INS - - G rs145440779 by1000genomes TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:59812016_59812017insG ENST00000371218.4 + 4 595_596 c.411_412insG c.(409-414)gtggggfs p.VG137fs FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 137 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) TCCAGTACGTCGGGGGGGTGAT 0.500 13 331 --- --- --- --- INADL 10207 broad.mit.edu 37 1 62253579 62253580 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:62253579_62253580insC ENST00000371158.2 + 8 1117_1118 c.1003_1004insC c.(1003-1005)cccfs p.P335fs INADL_ENST00000316485.6_Frame_Shift_Ins_p.P335fs NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 335 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 CATTTCAGTCACCCCCCCTGCC 0.505 7 131 --- --- --- --- CACHD1 57685 broad.mit.edu 37 1 65157116 65157117 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:65157116_65157117insC ENST00000371073.2 + 27 3697_3698 c.3697_3698insC c.(3697-3699)cccfs p.P1233fs CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.P1182fs|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 1233 calcium ion transport integral to membrane p.Q1185fs*23(1) breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 AGACCTGGATACCCCCCCTCAG 0.554 9 297 --- --- --- --- C1orf173 127254 broad.mit.edu 37 1 75036818 75036819 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:75036818_75036819insG ENST00000326665.5 - 14 4793_4794 c.4575_4576insC c.(4573-4578)ccacaafs p.Q1526fs C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1526 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TGCACGTTGTTGGGGGAAACAT 0.515 7 2058 --- --- --- --- GBP7 388646 broad.mit.edu 37 1 89613321 89613322 + Frame_Shift_Ins INS - - C rs138127555 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:89613321_89613322insC ENST00000294671.2 - 8 1431_1432 c.1293_1294insG c.(1291-1296)ggacaafs p.Q432fs NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 432 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TAGATATTGTGCCCCCCCGGAA 0.436 7 225 --- --- --- --- LRRC8C 84230 broad.mit.edu 37 1 90179646 90179647 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:90179646_90179647insC ENST00000370454.4 + 3 1772_1773 c.1517_1518insC c.(1516-1518)cccfs p.P506fs LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron NM_032270.4 NP_115646.2 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member C 506 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) ATGAGGGAACTCCCCCCCTGGA 0.500 9 135 --- --- --- --- EPHX4 253152 broad.mit.edu 37 1 92511121 92511122 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:92511121_92511122insG ENST00000370383.4 + 4 606_607 c.508_509insG c.(508-510)gggfs p.G170fs NM_173567.4 NP_775838.3 Q8IUS5 EPHX4_HUMAN epoxide hydrolase 4 170 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(3)|lung(8) 12 TGGCCATGACTGGGGGGGCATG 0.386 30 455 --- --- --- --- NTNG1 22854 broad.mit.edu 37 1 107866959 107866960 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:107866959_107866960insC ENST00000370067.1 + 3 929_930 c.302_303insC c.(301-303)cccfs p.P101fs NTNG1_ENST00000370065.1_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370074.4_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370061.3_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000542803.1_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370066.1_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370071.2_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370070.2_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370072.3_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370068.1_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370073.2_Frame_Shift_Ins_p.P101fs Q9Y2I2 NTNG1_HUMAN netrin G1 101 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) GAGCTGGCACACCCCCCTGAGC 0.485 8 776 --- --- --- --- OVGP1 5016 broad.mit.edu 37 1 111959046 111959047 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:111959046_111959047insC ENST00000369732.3 - 10 1109_1110 c.1054_1055insG c.(1054-1056)catfs p.H352fs OVGP1_ENST00000540696.1_3'UTR NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 352 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) CCACACCATGGCCCCCCCAAAA 0.505 40 685 --- --- --- --- OLFML3 56944 broad.mit.edu 37 1 114523958 114523959 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:114523958_114523959insC ENST00000369551.1 + 4 1016_1017 c.728_729insC c.(727-729)accfs p.T243fs OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs|OLFML3_ENST00000491700.1_3'UTR Q9NRN5 OLFL3_HUMAN olfactomedin-like 3 263 Olfactomedin-like. multicellular organismal development extracellular region breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1) 14 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGGGGCTGATCCCCCCCTACG 0.559 7 276 --- --- --- --- TRIM33 51592 broad.mit.edu 37 1 114968116 114968118 + In_Frame_Del DEL TGT TGT - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:114968116_114968118delTGT ENST00000358465.2 - 9 1731_1733 c.1648_1650delACA c.(1648-1650)del p.T550del TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del|TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 550 Poly-Thr. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GATGCTGTTGTGTTGTTGTTGTT 0.429 T RET papillary thyroid 9 1336 --- --- --- --- PIAS3 10401 broad.mit.edu 37 1 145584022 145584023 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:145584022_145584023insC ENST00000393045.2 + 10 1343_1344 c.1253_1254insC c.(1252-1254)tccfs p.S418fs PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 418 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCTGAGGTTTGCCCCCCGCCAG 0.500 7 435 --- --- --- --- C1orf51 148523 broad.mit.edu 37 1 150259011 150259012 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:150259011_150259012insC ENST00000290363.5 + 5 1252_1253 c.803_804insC c.(802-804)accfs p.T268fs C1orf51_ENST00000369094.1_Frame_Shift_Ins_p.T180fs|C1orf51_ENST00000369095.1_Frame_Shift_Ins_p.T268fs NM_144697.2 NP_653298.1 Q8N365 CA051_HUMAN chromosome 1 open reading frame 51 268 endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CCAATTTGCAACCCCCCTCTCA 0.520 7 668 --- --- --- --- TARS2 80222 broad.mit.edu 37 1 150477198 150477199 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:150477198_150477199insG ENST00000369064.3 + 15 1843_1844 c.1809_1810insG c.(1807-1812)tgggggfs p.WG603fs TARS2_ENST00000606933.1_Frame_Shift_Ins_p.WG521fs|TARS2_ENST00000369054.2_Frame_Shift_Ins_p.WG473fs NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 603 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity p.C603C(2)|p.G604W(1) cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CAGAAAGCTGCGGGGGGAAATG 0.569 7 300 --- --- --- --- RFX5 5993 broad.mit.edu 37 1 151318740 151318741 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:151318740_151318741insG ENST00000290524.4 - 3 234_235 c.56_57insC c.(55-57)cggfs p.R19fs RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 19 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CAGCACCACCTGGGGGGGCCCT 0.554 17 272 --- --- --- --- SPRR1A 6698 broad.mit.edu 37 1 152957687 152957688 + Splice_Site INS - - A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:152957687_152957688insA ENST00000307122.2 + 2 45_46 c.e2-1 NM_001199828.1|NM_005987.3 NP_001186757.1|NP_005978.2 P35321 SPR1A_HUMAN small proline-rich protein 1A keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1) 7 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TCTGTCTCTAGAAAAAAACACA 0.441 8 477 --- --- --- --- PGLYRP4 57115 broad.mit.edu 37 1 153317810 153317811 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:153317810_153317811insC ENST00000368739.3 - 4 533_534 c.175_176insG c.(175-177)agafs p.R59fs PGLYRP4_ENST00000359650.5_Frame_Shift_Ins_p.R63fs|PGLYRP4_ENST00000490266.1_5'UTR Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 63 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AACAGCTTCTGCCCCCCATGCC 0.589 9 813 --- --- --- --- TDRD10 126668 broad.mit.edu 37 1 154493907 154493908 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:154493907_154493908insC ENST00000368482.4 + 6 1159_1160 c.321_322insC c.(319-324)agccccfs p.SP107fs TDRD10_ENST00000368480.3_Frame_Shift_Ins_p.SP107fs|TDRD10_ENST00000479937.1_3'UTR NM_001098475.1|NM_182499.3 NP_001091945.1|NP_872305.3 Q5VZ19 TDR10_HUMAN tudor domain containing 10 107 RRM. nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CAAGCAAAAGGCCCCCCAAGAG 0.520 10 382 --- --- --- --- ASH1L 55870 broad.mit.edu 37 1 155491185 155491186 + Frame_Shift_Ins INS - - T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:155491185_155491186insT ENST00000368346.3 - 2 764_765 c.125_126insA c.(124-126)aacfs p.N42fs ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 42 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) CCTCCTTTGTGTTTTTTTCTAG 0.431 11 2062 --- --- --- --- RCSD1 92241 broad.mit.edu 37 1 167654710 167654711 + Frame_Shift_Ins INS - - C rs144007158 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:167654710_167654711insC ENST00000367854.3 + 3 492_493 c.161_162insC c.(160-162)tccfs p.S54fs RCSD1_ENST00000537350.1_Intron NM_052862.3 NP_443094.3 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 54 NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) CTCCCCCTGTTCCCCCCCAAGG 0.554 14 142 --- --- --- --- ADCY10 55811 broad.mit.edu 37 1 167865905 167865906 + Frame_Shift_Ins INS - - G rs35604923 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:167865905_167865906insG ENST00000367848.1 - 7 887_888 c.390_391insC c.(388-393)ccatttfs p.F131fs ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs|ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 223 Guanylate cyclase 1. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AAATTAAAATTGGGGGGTGGTT 0.332 12 457 --- --- --- --- MROH9 80133 broad.mit.edu 37 1 170940907 170940907 + Frame_Shift_Del DEL T T - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:170940907delT ENST00000367759.4 + 8 653 c.499delT c.(499-501)gtfs p.C167fs MROH9_ENST00000367758.3_Frame_Shift_Del_p.C167fs NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 TGATGCTCCATGTTTGGGTCT 0.418 7 1530 --- --- --- --- CACNA1S 779 broad.mit.edu 37 1 201046125 201046126 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:201046125_201046126insC ENST00000362061.3 - 12 1975_1976 c.1749_1750insG c.(1747-1752)ggggtafs p.V584fs CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 584 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AAGTCATACCTCCCCCCAAAGA 0.574 7 294 --- --- --- --- GOLT1A 127845 broad.mit.edu 37 1 204170835 204170836 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:204170835_204170836insC ENST00000308302.3 - 3 406_407 c.221_222insG c.(220-222)ggtfs p.G74fs NM_198447.1 NP_940849.1 Q6ZVE7 GOT1A_HUMAN golgi transport 1A 74 protein transport|vesicle-mediated transport Golgi membrane|integral to membrane kidney(1)|lung(2)|urinary_tract(1) 4 all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244) CGATAACCACACCCCCCAGGAG 0.545 8 425 --- --- --- --- PIK3C2B 5287 broad.mit.edu 37 1 204438071 204438072 + Frame_Shift_Ins INS - - G rs115574296 by1000genomes TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:204438071_204438072insG ENST00000367187.3 - 3 1415_1416 c.859_860insC c.(859-861)cacfs p.H287fs PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 287 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding p.R287fs*92(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GGCATAGGTGCGGGGGGGCACC 0.624 24 195 --- --- --- --- TMEM81 388730 broad.mit.edu 37 1 205052693 205052694 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:205052693_205052694insC ENST00000367167.3 - 1 951_952 c.755_756insG c.(754-756)gctfs p.A252fs NM_203376.1 NP_976310.1 Q6P7N7 TMM81_HUMAN transmembrane protein 81 252 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) ACTGCTGCAGGCCCCCCCTTAG 0.540 13 299 --- --- --- --- CR2 1380 broad.mit.edu 37 1 207642043 207642044 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:207642043_207642044insC ENST00000367057.3 + 3 806_807 c.617_618insC c.(616-618)gccfs p.A206fs CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 206 Sushi 3. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity p.T209fs*10(1) NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TGGAGTGCTGTCCCCCCCACAT 0.396 8 397 --- --- --- --- KCNS3 3790 broad.mit.edu 37 2 18112337 18112338 + Frame_Shift_Ins INS - - G rs35579067 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:18112337_18112338insG ENST00000403915.1 + 3 513_514 c.62_63insG c.(61-63)gggfs p.G21fs KCNS3_ENST00000304101.4_Frame_Shift_Ins_p.G21fs|KCNS3_ENST00000465292.1_Intron Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 21 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACCTGAATGTGGGGGGCTTTA 0.535 7 599 --- --- --- --- XDH 7498 broad.mit.edu 37 2 31625970 31625971 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:31625970_31625971insC ENST00000379416.3 - 3 188_189 c.140_141insG c.(139-141)gtgfs p.V47fs NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 47 2Fe-2S ferredoxin-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) AAGCCCCGCAGCCCCCCTCTCC 0.574 8 634 --- --- --- --- MSH6 2956 broad.mit.edu 37 2 48030796 48030797 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:48030796_48030797insG ENST00000234420.4 + 5 3562_3563 c.3410_3411insG c.(3409-3411)aggfs p.R1137fs FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Frame_Shift_Ins_p.R1007fs|MSH6_ENST00000538136.1_Frame_Shift_Ins_p.R835fs NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 1137 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GGACCAAATATGGGGGGCAAGT 0.376 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 7 789 --- --- --- --- FSHR 2492 broad.mit.edu 37 2 49217718 49217718 + Frame_Shift_Del DEL G G - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:49217718delG ENST00000406846.2 - 5 552 c.433delC c.(433-435)aafs p.Q145fs FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Frame_Shift_Del_p.Q145fs|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Frame_Shift_Del_p.Q145fs NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 145 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) AAAACTTTTTGGAGAGAATGA 0.383 Gonadal Dysgenesis, 46 XX 83 460 --- --- --- --- USP39 10713 broad.mit.edu 37 2 85863227 85863228 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:85863227_85863228insG ENST00000323701.6 + 7 1011_1012 c.1001_1002insG c.(1000-1002)cggfs p.R334fs USP39_ENST00000409766.3_Frame_Shift_Ins_p.R334fs|USP39_ENST00000409470.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Frame_Shift_Ins_p.R231fs NM_006590.3 NP_006581.2 Q53GS9 SNUT2_HUMAN ubiquitin specific peptidase 39 334 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 CACTCAGCTCTGGGGGGCACAA 0.416 7 686 --- --- --- --- LINC00152 112597 broad.mit.edu 37 2 87865524 87865525 + RNA INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:87865524_87865525insC ENST00000409054.1 + 0 278 NR_015395.1 AAAATAAATTTCCCCCCAGAAC 0.455 7 690 --- --- --- --- EIF5B 9669 broad.mit.edu 37 2 99993096 99993102 + Splice_Site DEL TGAGGTA TGAGGTA - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:99993096_99993102delTGAGGTA ENST00000289371.5 + 10 2041_2044 c.1842_splice c.e10+1 p.613_splice NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 613 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 AACGGAGGATTGAGGTATTTATTTTAC 0.362 29 404 --- --- --- --- EDAR 10913 broad.mit.edu 37 2 109539836 109539837 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:109539836_109539837insG ENST00000409271.1 - 6 872_873 c.429_430insC c.(427-432)ccacacfs p.H144fs EDAR_ENST00000258443.2_Frame_Shift_Ins_p.H144fs|EDAR_ENST00000376651.1_Frame_Shift_Ins_p.H144fs Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 144 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 TCCTTGGTGTTGGGGGGTGCCA 0.535 7 402 --- --- --- --- KCNH7 90134 broad.mit.edu 37 2 163256860 163256861 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:163256860_163256861insC ENST00000332142.5 - 10 2344_2345 c.2245_2246insG c.(2245-2247)aagfs p.K749fs NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 749 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.A749fs*3(1) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) ACCTTTACTTGCCCCCCGAAAG 0.485 8 488 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168099957 168099958 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:168099957_168099958insG ENST00000409195.1 + 9 2144_2145 c.2055_2056insG c.(2053-2058)acggggfs p.TG685fs XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 510 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGGACATAACTGGGGGGGATGT 0.421 9 445 --- --- --- --- MYO3B 140469 broad.mit.edu 37 2 171240258 171240259 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:171240258_171240259insC ENST00000334231.6 + 12 1251_1252 c.1251_1252insC c.(1249-1254)aaccccfs p.NP417fs MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs Q8WXR4 MYO3B_HUMAN myosin IIIB 408 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GCGCCTCCAATCCCCCCCACAT 0.465 18 416 --- --- --- --- NEUROD1 4760 broad.mit.edu 37 2 182542971 182542972 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:182542971_182542972insG ENST00000295108.3 - 2 1073_1074 c.616_617insC c.(616-618)cctfs p.P206fs NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 206 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) CGTCGGCAGGTGGGGGGGCATG 0.619 8 211 --- --- --- --- ITGAV 3685 broad.mit.edu 37 2 187521084 187521085 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:187521084_187521085insG ENST00000261023.3 + 17 1949_1950 c.1675_1676insG c.(1675-1677)gggfs p.G559fs AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 559 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|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|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GACTATTTCAAGGGGGGGACTG 0.431 14 940 --- --- --- --- CTLA4 1493 broad.mit.edu 37 2 204736166 204736166 + Frame_Shift_Del DEL T T - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:204736166delT ENST00000302823.3 + 3 680 c.523delT c.(523-525)ttfs p.F176fs CTLA4_ENST00000487393.1_Intron|CTLA4_ENST00000427473.2_Intron|CTLA4_ENST00000295854.6_Intron|CTLA4_ENST00000472206.1_Intron NM_005214.4 NP_005205.2 P16410 CTLA4_HUMAN cytotoxic T-lymphocyte-associated protein 4 176 B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm large_intestine(4)|lung(4)|skin(1) 9 Abatacept(DB01281) TTCGGGGTTGTTTTTTTATAG 0.478 12 976 --- --- --- --- ADAM23 8745 broad.mit.edu 37 2 207460860 207460861 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:207460860_207460861insC ENST00000264377.3 + 24 2661_2662 c.2333_2334insC c.(2332-2334)cccfs p.P778fs ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 778 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.K781fs*3(2) NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) AGGAACCTTCACCCCCCCAAGG 0.455 13 240 --- --- --- --- NYAP2 57624 broad.mit.edu 37 2 226447071 226447072 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:226447071_226447072insC ENST00000272907.6 + 4 1351_1352 c.938_939insC c.(937-939)tccfs p.S313fs NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 313 Pro-rich. TCAGTGCCATGCCCCCCCAAGG 0.619 8 96 --- --- --- --- EIF4E2 9470 broad.mit.edu 37 2 233431933 233431934 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:233431933_233431934insG ENST00000409167.3 + 5 575_576 c.539_540insG c.(538-540)tggfs p.W180fs EIF4E2_ENST00000409322.1_Intron|EIF4E2_ENST00000258416.3_Intron|EIF4E2_ENST00000409098.1_Intron|EIF4E2_ENST00000409495.1_Frame_Shift_Ins_p.W225fs|EIF4E2_ENST00000409514.1_Intron|EIF4E2_ENST00000409394.1_Intron O60573 IF4E2_HUMAN eukaryotic translation initiation factor 4E family member 2 0 regulation of translation cytoplasm|mRNA cap binding complex RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AAGTACGTGTTGGGGGGTTATG 0.515 9 570 --- --- --- --- FANCD2 2177 broad.mit.edu 37 3 10088407 10088410 + Splice_Site DEL AGTA AGTA - rs146316187 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:10088407_10088410delAGTA ENST00000287647.3 + 15 1371 c.1278_splice c.e15+1 p.426_splice FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 426 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TTCATTACTTAGTAAGTGTCAGAG 0.358 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 13 48 --- --- --- --- COL8A1 1295 broad.mit.edu 37 3 99514533 99514534 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:99514533_99514534insC ENST00000261037.3 + 5 2168_2169 c.1788_1789insC c.(1786-1791)aaccccfs p.NP596fs COL8A1_ENST00000273342.4_Frame_Shift_Ins_p.NP596fs NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 596 Nonhelical region (NC1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 ATGGCGTGAAACCCCCCCATGC 0.614 10 149 --- --- --- --- IGSF11 152404 broad.mit.edu 37 3 118647520 118647521 + Frame_Shift_Ins INS - - G rs145433873 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:118647520_118647521insG ENST00000354673.2 - 5 636_637 c.256_257insC c.(256-258)gttfs p.V86fs IGSF11_ENST00000441144.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000491903.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000425327.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000393775.2_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000489689.1_Frame_Shift_Ins_p.V87fs NM_152538.2 NP_689751.2 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 87 Ig-like V-type. cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 ACCGTGGAACCGGGGGGCACCA 0.465 8 653 --- --- --- --- TMEM39A 55254 broad.mit.edu 37 3 119156615 119156616 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:119156615_119156616insG ENST00000319172.5 - 6 1330_1331 c.910_911insC c.(910-912)gtgfs p.V304fs NM_018266.1 NP_060736.1 Q9NV64 TM39A_HUMAN transmembrane protein 39A 304 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 13 GBM - Glioblastoma multiforme(114;0.244) CACAAAACACAGGGGGAGAAAT 0.396 7 599 --- --- --- --- GRK7 131890 broad.mit.edu 37 3 141535707 141535708 + Frame_Shift_Ins INS - - G rs149574289 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:141535707_141535708insG ENST00000264952.2 + 4 1614_1615 c.1477_1478insG c.(1477-1479)gggfs p.G493fs NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 493 AGC-kinase C-terminal. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity p.R493L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 CTCTGAGGTTCGGGGGGTGGAA 0.460 11 750 --- --- --- --- ABCC5 10057 broad.mit.edu 37 3 183700629 183700630 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:183700629_183700630insC ENST00000334444.6 - 6 997_998 c.757_758insG c.(757-759)catfs p.H253fs ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.H253fs NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 253 ABC transmembrane type-1 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GGTTAGGATGGCCCCCCGCAAG 0.515 14 370 --- --- --- --- FGF12 2257 broad.mit.edu 37 3 192053255 192053256 + Splice_Site INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:192053255_192053256insG ENST00000454309.2 - 3 1136 c.e3-2 FGF12_ENST00000450716.1_Splice_Site|FGF12_ENST00000264730.3_Splice_Site|FGF12_ENST00000430714.1_Splice_Site|FGF12_ENST00000445105.1_Splice_Site NM_021032.4 NP_066360.1 P61328 FGF12_HUMAN fibroblast growth factor 12 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) TGAAGAGAGCTGGGGGGAGAAA 0.426 7 347 --- --- --- --- CPEB2 132864 broad.mit.edu 37 4 15067857 15067858 + Frame_Shift_Ins INS - - T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:15067857_15067858insT ENST00000538197.1 + 12 2958_2959 c.2958_2959insT c.(2956-2961)ccttttfs p.PF986fs CPEB2_ENST00000345451.3_Frame_Shift_Ins_p.PF511fs|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000259997.5_Frame_Shift_Ins_p.PF549fs|CPEB2_ENST00000541112.1_Frame_Shift_Ins_p.PF978fs|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000507071.1_Frame_Shift_Ins_p.PF541fs|CPEB2_ENST00000442003.2_Frame_Shift_Ins_p.PF959fs|CPEB2_ENST00000382395.3_Frame_Shift_Ins_p.PF519fs|CPEB2_ENST00000382401.3_Frame_Shift_Ins_p.PF514fs NM_001177382.1 NP_001170853.1 Q7Z5Q1 CPEB2_HUMAN cytoplasmic polyadenylation element binding protein 2 541 regulation of translation cytoplasm nucleotide binding|RNA binding p.P541P(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3) 14 AATTTGCTCCCTTTTTTTGTGC 0.441 14 1395 --- --- --- --- LGI2 55203 broad.mit.edu 37 4 25005320 25005321 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:25005320_25005321insC ENST00000382114.4 - 8 1575_1576 c.1390_1391insG c.(1390-1392)catfs p.H464fs NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 464 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) CAGGGTCATGGCCCCCCGGGAT 0.515 7 433 --- --- --- --- KLF3 51274 broad.mit.edu 37 4 38691475 38691476 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:38691475_38691476insC ENST00000261438.5 + 4 975_976 c.670_671insC c.(670-672)cccfs p.P224fs KLF3_ENST00000514033.1_Frame_Shift_Ins_p.P224fs NM_016531.5 NP_057615.3 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 224 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 GAACTCAGTGTCCCCCCCGCAA 0.426 14 404 --- --- --- --- TMPRSS11F 389208 broad.mit.edu 37 4 68919689 68919690 + Frame_Shift_Ins INS - - T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:68919689_68919690insT ENST00000356291.2 - 10 1313_1314 c.1254_1255insA c.(1252-1257)aactggfs p.NW418fs RP11-453E17.1_ENST00000500538.2_RNA NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 418 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 TAGACTCCAGGTTTTTTGGGAA 0.431 9 701 --- --- --- --- AFM 173 broad.mit.edu 37 4 74347531 74347532 + Frame_Shift_Ins INS - - T rs145217978 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:74347531_74347532insT ENST00000226355.3 + 1 132_133 c.39_40insT c.(37-42)ttttttfs p.FF13fs NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 13 vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTTTTTTCTTGTTTTTTTTGAC 0.312 8 206 --- --- --- --- CDKL2 8999 broad.mit.edu 37 4 76539580 76539580 + Frame_Shift_Del DEL T T - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:76539580delT ENST00000429927.2 - 3 925 c.222delA c.(220-222)aafs p.K74fs CDKL2_ENST00000307465.4_Frame_Shift_Del_p.K74fs NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 74 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GGTACCATCGTTTTTTTTTCT 0.323 7 227 --- --- --- --- FRAS1 80144 broad.mit.edu 37 4 79238582 79238583 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:79238582_79238583insC ENST00000264895.6 + 17 2320_2321 c.1880_1881insC c.(1879-1881)accfs p.T627fs FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 627 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ACAGCCTGCAGCCCCCCCAAGG 0.574 7 112 --- --- --- --- UNC5C 8633 broad.mit.edu 37 4 96091356 96091357 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:96091356_96091357insG ENST00000453304.1 - 15 2926_2927 c.2578_2579insC c.(2578-2580)gacfs p.D860fs NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 860 Death. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GCCTCTCGTCTGGGGGGCATCC 0.599 12 473 --- --- --- --- UNC5C 8633 broad.mit.edu 37 4 96140293 96140294 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:96140293_96140294insG ENST00000453304.1 - 9 1819_1820 c.1471_1472insC c.(1471-1473)agafs p.R491fs UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 491 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GAGGTCATCTTGGGGGGTGACA 0.505 10 478 --- --- --- --- RRH 10692 broad.mit.edu 37 4 110756541 110756541 + Frame_Shift_Del DEL T T - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:110756541delT ENST00000317735.4 + 3 351 c.317delT c.(316-318)atfs p.I106fs NM_006583.2 NP_006574.1 O14718 OPSX_HUMAN retinal pigment epithelium-derived rhodopsin homolog 106 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 12 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) GGATTGAATATTTTTTTTGGA 0.393 10 911 --- --- --- --- ANK2 287 broad.mit.edu 37 4 114280134 114280135 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:114280134_114280135insG ENST00000357077.4 + 38 10413_10414 c.10360_10361insG c.(10360-10362)gggfs p.G3454fs ANK2_ENST00000264366.6_Frame_Shift_Ins_p.G3421fs|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3421 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.T3457fs*8(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATCTTCCTGCAGGGGGGGCACG 0.455 8 145 --- --- --- --- GAB1 2549 broad.mit.edu 37 4 144381536 144381537 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:144381536_144381537insC ENST00000262995.4 + 9 2216_2217 c.1789_1790insC c.(1789-1791)cccfs p.P597fs GAB1_ENST00000505913.1_Frame_Shift_Ins_p.P464fs|GAB1_ENST00000262994.4_Frame_Shift_Ins_p.P567fs NM_207123.2 NP_997006.1 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 567 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 30 all_hematologic(180;0.158) GTTTCCCATGTCCCCCCGACCA 0.406 8 377 --- --- --- --- FBXW7 55294 broad.mit.edu 37 4 153244155 153244156 + Frame_Shift_Ins INS - - C rs7679116 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:153244155_153244156insC ENST00000281708.4 - 12 3230_3231 c.2001_2002insG c.(1999-2004)gggtggfs p.W668fs FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.W492fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.W668fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.W668fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.W550fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.W588fs NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 668 S -> G (in dbSNP:rs7679116). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.S668fs*39(1)|p.S668fs*26(1)|p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) ACTCCCCCACTCCCCCCACTCT 0.485 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 7 314 --- --- --- --- TLR3 7098 broad.mit.edu 37 4 186997804 186997805 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr4:186997804_186997805insG ENST00000296795.2 + 2 135_136 c.31_32insG c.(31-33)gggfs p.G11fs NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 11 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TATCTACTTTTGGGGGGGCCTT 0.446 10 283 --- --- --- --- DROSHA 29102 broad.mit.edu 37 5 31521249 31521250 + Frame_Shift_Ins INS - - T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:31521249_31521250insT ENST00000511367.2 - 5 1171_1172 c.927_928insA c.(925-930)aaagtafs p.V310fs DROSHA_ENST00000344624.3_Frame_Shift_Ins_p.V310fs|DROSHA_ENST00000442743.1_Frame_Shift_Ins_p.V310fs|DROSHA_ENST00000513349.1_Frame_Shift_Ins_p.V310fs NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 310 Arg-rich. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 CTCTTATACTCTTTTTTGTAGG 0.426 7 1238 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 31799656 31799657 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:31799656_31799657insG ENST00000438447.1 + 2 689_690 c.301_302insG c.(301-303)gggfs p.G101fs PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs O15018 PDZD2_HUMAN PDZ domain containing 2 101 PDZ 1. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TGAAAAGCGCAGGGGGGGCAAG 0.574 7 154 --- --- --- --- NPR3 4883 broad.mit.edu 37 5 32789822 32789823 + Frame_Shift_Del DEL GT GT - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:32789822_32789823delGT ENST00000326958.1 + 1 878_879 c.315_316delGT c.(313-318)gggtfs p.GC105fs NPR3_ENST00000265074.8_3'UTR CTGATTTTGGGTGTGTGTGTGT 0.421 8 887 --- --- --- --- ADAMTS12 81792 broad.mit.edu 37 5 33881300 33881301 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:33881300_33881301insG ENST00000504830.1 - 2 747_748 c.412_413insC c.(412-414)ctgfs p.L138fs ADAMTS12_ENST00000352040.3_Frame_Shift_Ins_p.L138fs|ADAMTS12_ENST00000515401.1_Frame_Shift_Ins_p.L138fs NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 138 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.L138I(2) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GAGATGGCAGAGGGGGGCAGAG 0.540 HNSCC(64;0.19) 7 359 --- --- --- --- SLC1A3 6507 broad.mit.edu 37 5 36679798 36679799 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:36679798_36679799insG ENST00000265113.4 + 7 1406_1407 c.930_931insG c.(928-933)atggggfs p.MG310fs SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs|CTD-2353F22.1_ENST00000510740.1_RNA NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 310 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) TGGGTGTGATTGGGGGGCAGCT 0.520 22 1000 --- --- --- --- NIPBL 25836 broad.mit.edu 37 5 36986119 36986120 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:36986119_36986120insG ENST00000282516.8 + 10 3336_3337 c.2837_2838insG c.(2836-2838)tggfs p.W946fs NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.W946fs|NIPBL_ENST00000504430.1_3'UTR NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 946 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AGTTATTTGTTGGGGGGCAGGT 0.391 12 362 --- --- --- --- C6 729 broad.mit.edu 37 5 41159256 41159257 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:41159256_41159257insG ENST00000263413.3 - 12 2047_2048 c.1783_1784insC c.(1783-1785)acgfs p.T595fs C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 595 TSP type-1 3. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.Q595K(1) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CCCTCCTCGTTGGGGGGCAGGA 0.500 7 576 --- --- --- --- C6 729 broad.mit.edu 37 5 41181559 41181560 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:41181559_41181560insC ENST00000263413.3 - 7 1092_1093 c.828_829insG c.(826-831)gggctcfs p.L277fs C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 277 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CTGAAAGAGCTCCCCCCCTGAC 0.376 13 282 --- --- --- --- SREK1IP1 285672 broad.mit.edu 37 5 64023980 64023981 + Frame_Shift_Del DEL TC TC - rs275819 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:64023980_64023981delTC ENST00000513458.4 - 4 398_399 c.231_232delGA c.(229-234)aaaafs p.KK77fs NM_173829.3 NP_776190.1 Q8N9Q2 SR1IP_HUMAN SREK1-interacting protein 1 77 Lys-rich. mRNA processing|RNA splicing nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|ovary(1) 6 cttttttctttcttcttttcct 0.282 2 4 --- --- --- --- MAP1B 4131 broad.mit.edu 37 5 71495076 71495077 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:71495076_71495077insC ENST00000296755.7 + 5 6192_6193 c.5894_5895insC c.(5893-5895)accfs p.T1965fs NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1965 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AAGACCACCAGCCCCCCCGAAG 0.485 10 274 --- --- --- --- GCNT4 51301 broad.mit.edu 37 5 74324982 74324983 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:74324982_74324983insG ENST00000322348.4 - 1 1741_1742 c.880_881insC c.(880-882)taafs p.*294fs NM_016591.2 NP_057675.1 Q9P109 GCNT4_HUMAN glucosaminyl (N-acetyl) transferase 4, core 2 294 protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity p.H294fs*2(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) CTGAATGTTATGGGGGGGTGCT 0.366 7 136 --- --- --- --- FBN2 2201 broad.mit.edu 37 5 127610310 127610311 + Frame_Shift_Ins INS - - C rs151053868 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr5:127610310_127610311insC ENST00000508053.1 - 66 8633_8634 c.7659_7660insG c.(7657-7662)ggttacfs p.Y2554fs FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs P35556 FBN2_HUMAN fibrillin 2 2554 EGF-like 43; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TTACAGGTAAACCCCCCCAGGG 0.421 9 377 --- --- --- --- PHACTR1 221692 broad.mit.edu 37 6 13206134 13206135 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:13206134_13206135insG ENST00000379350.1 + 7 881_882 c.752_753insG c.(751-753)gggfs p.G251fs PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 251 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TGTATGCCCGTGGGGGGGCCAG 0.599 12 522 --- --- --- --- KIAA0319 9856 broad.mit.edu 37 6 24601319 24601320 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:24601319_24601320insG ENST00000378214.3 - 2 536_537 c.12_13insC c.(10-15)cccaggfs p.R5fs KIAA0319_ENST00000543707.1_Frame_Shift_Ins_p.R5fs|KIAA0319_ENST00000537886.1_Frame_Shift_Ins_p.R5fs|KIAA0319_ENST00000430948.2_Intron|KIAA0319_ENST00000535378.1_5'UTR NM_001168375.1|NM_014809.3 NP_001161847.1|NP_055624.2 Q5VV43 K0319_HUMAN KIAA0319 5 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 AGCACACCTGTGGGGGGCGCCA 0.525 15 580 --- --- --- --- OR5V1 81696 broad.mit.edu 37 6 29323424 29323425 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:29323424_29323425insG ENST00000377154.1 - 4 847_848 c.548_549insC c.(547-549)cttfs p.L183fs OR5V1_ENST00000543825.1_Frame_Shift_Ins_p.L183fs Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, member 1 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P183H(1) breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AGATCAGCAAAGGGGGGATGTC 0.455 13 1285 --- --- --- --- RNF39 80352 broad.mit.edu 37 6 30040951 30040952 + Frame_Shift_Ins INS - - T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:30040951_30040952insT ENST00000244360.6 - 3 761_762 c.664_665insA c.(664-666)gctfs p.A222fs RNF39_ENST00000376751.3_Frame_Shift_Ins_p.A222fs NM_025236.3 NP_079512.2 Q9H2S5 RNF39_HUMAN ring finger protein 39 222 B30.2/SPRY. cytoplasm zinc ion binding TCTATGAAGCATTTTTTTGACC 0.411 8 904 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30569333 30569334 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:30569333_30569334insG ENST00000376511.2 - 20 3367_3368 c.2815_2816insC c.(2815-2817)gccfs p.A939fs NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 939 protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 TCCCTAGGGCAGGGGGGGCCCA 0.569 8 230 --- --- --- --- UHRF1BP1 54887 broad.mit.edu 37 6 34791081 34791082 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:34791081_34791082insC ENST00000192788.5 + 4 465_466 c.294_295insC c.(292-297)cgccccfs p.RP98fs UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 98 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 AGGATCCTCGGCCCCCCAATGG 0.446 22 1323 --- --- --- --- REV3L 5980 broad.mit.edu 37 6 111693903 111693904 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:111693903_111693904insG ENST00000435970.1 - 15 6236_6237 c.5420_5421insC c.(5419-5421)cagfs p.Q1807fs REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1885 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CTTCCCTACTTGGGGGGGACAT 0.431 DNA polymerases (catalytic subunits) 30 544 --- --- --- --- MAN1A1 4121 broad.mit.edu 37 6 119510935 119510936 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:119510935_119510936insC ENST00000368468.3 - 10 1880_1881 c.1439_1440insG c.(1438-1440)gatfs p.D480fs NM_005907.3 NP_005898.2 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 480 post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) GTGCGAACATGCCCCCCGCGAA 0.554 7 299 --- --- --- --- KIAA0408 9729 broad.mit.edu 37 6 127767595 127767596 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:127767595_127767596insC ENST00000483725.3 - 5 2204_2205 c.1868_1869insG c.(1867-1869)gcafs p.A623fs SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 623 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) TCACTTCCTGTCCCCCCCACAC 0.401 22 621 --- --- --- --- LAMA2 3908 broad.mit.edu 37 6 129419357 129419358 + Frame_Shift_Ins INS - - C rs143680577 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:129419357_129419358insC ENST00000421865.2 + 4 485_486 c.436_437insC c.(436-438)cccfs p.P146fs NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 146 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GGCAGCTAACTCCCCCCGGCCT 0.446 7 200 --- --- --- --- ENPP3 5169 broad.mit.edu 37 6 132006590 132006591 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:132006590_132006591insC ENST00000414305.1 + 14 1535_1536 c.1207_1208insC c.(1207-1209)cccfs p.P403fs ENPP3_ENST00000357639.3_Frame_Shift_Ins_p.P403fs|ENPP3_ENST00000358229.5_Frame_Shift_Ins_p.P403fs O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 403 Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) CGAAGGGCCTGCCCCCCGCATC 0.361 7 414 --- --- --- --- AHI1 54806 broad.mit.edu 37 6 135784283 135784284 + Frame_Shift_Ins INS - - T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:135784283_135784284insT ENST00000367800.4 - 6 1126_1127 c.910_911insA c.(910-912)aaafs p.K304fs AHI1_ENST00000327035.6_Frame_Shift_Ins_p.K304fs|AHI1_ENST00000457866.2_Frame_Shift_Ins_p.K304fs NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 304 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) CTTCTTTTTTGTTTTTTTTGGT 0.307 10 225 --- --- --- --- UST 10090 broad.mit.edu 37 6 149395141 149395142 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr6:149395141_149395142insC ENST00000367463.4 + 8 1213_1214 c.1110_1111insC c.(1108-1113)aaccccfs p.NP370fs UST_ENST00000466695.1_3'UTR NM_005715.2 NP_005706.1 Q9Y2C2 UST_HUMAN uronyl-2-sulfotransferase 370 protein sulfation Golgi membrane|integral to membrane sulfotransferase activity breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2) 12 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) ACGTCAGCAAGCCCCCCCTGAG 0.490 13 333 --- --- --- --- TRPV5 56302 broad.mit.edu 37 7 142612493 142612494 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:142612493_142612494insC ENST00000265310.1 - 10 1617_1618 c.1269_1270insG c.(1267-1272)ggcattfs p.I424fs NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 424 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) ACATGGAATGGCCCCCCAAGAA 0.505 8 502 --- --- --- --- KEL 3792 broad.mit.edu 37 7 142639979 142639980 + Frame_Shift_Ins INS - - C rs140258059 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr7:142639979_142639980insC ENST00000355265.2 - 17 2397_2398 c.1923_1924insG c.(1921-1926)ggtagcfs p.S642fs NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 642 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GCGATGGCTAGCCCCCCAACGT 0.500 9 953 --- --- --- --- KCNB2 9312 broad.mit.edu 37 8 73480091 73480092 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:73480091_73480092insG ENST00000523207.1 + 2 710_711 c.122_123insG c.(121-123)gggfs p.G41fs NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 41 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AAGATCAATGTGGGGGGCCTCA 0.564 9 414 --- --- --- --- ZNF704 619279 broad.mit.edu 37 8 81733778 81733778 + Frame_Shift_Del DEL T T - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr8:81733778delT ENST00000327835.3 - 2 283 c.52delA c.(52-54)tgfs p.M18fs NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 18 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) TGATGAGACATTTTTTTACCA 0.423 10 1307 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971057 21971058 + Frame_Shift_Ins INS - - A rs104894094 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:21971057_21971058insA ENST00000579755.1 - 2 635_636 c.343_344insT c.(343-345)gggfs p.G115fs CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.AG100fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.AG100fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.AG100fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.G156fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.G115fs|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.AG100fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.AG49fs P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 131 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.A102fs*18(1)|p.0(1)|p.G101fs*17(1)|p.T93_D105del(1)|p.A68fs*3(1)|p.G101W(1)|p.A102fs*42(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) AGCCGCGCCCCGGCCCGGTGCA 0.752 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 10 8 --- --- --- --- SPATA31A1 647060 broad.mit.edu 37 9 39361117 39361117 + Frame_Shift_Del DEL G G - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:39361117delG ENST00000377647.3 + 4 3384 c.3355delG c.(3355-3357)aafs p.E1119fs NM_001085452.1 NP_001078921.1 SPATA31 subfamily A, member 1 GCCCAACTTAGAAAAACATGA 0.488 56 169 --- --- --- --- DAPK1 1612 broad.mit.edu 37 9 90321801 90321802 + Frame_Shift_Ins INS - - G rs56169226 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:90321801_90321802insG ENST00000469640.2 + 27 4265_4266 c.3890_3891insG c.(3889-3891)aggfs p.R1297fs DAPK1_ENST00000408954.3_Frame_Shift_Ins_p.R1272fs|DAPK1_ENST00000491893.1_Frame_Shift_Ins_p.R1206fs|DAPK1_ENST00000472284.1_Frame_Shift_Ins_p.R1272fs|DAPK1_ENST00000358077.5_Frame_Shift_Ins_p.R1272fs P53355 DAPK1_HUMAN death-associated protein kinase 1 1272 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity p.Y1276fs*31(1)|p.Y1275fs*31(1) breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 ACCAACACCATGGGGGGGTACA 0.584 Chronic Lymphocytic Leukemia, Familial Clustering of 8 100 --- --- --- --- ANKRD19P 138649 broad.mit.edu 37 9 95649123 95649124 + RNA INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:95649123_95649124insC ENST00000473204.1 + 0 2259 GCAATCTAGCACCCCCCAAAAG 0.540 7 378 --- --- --- --- MRPL50 54534 broad.mit.edu 37 9 104152774 104152775 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:104152774_104152775insG ENST00000374865.4 - 2 471_472 c.450_451insC c.(448-453)ccatttfs p.F151fs MRPL50_ENST00000539624.1_Intron NM_019051.2 NP_061924.1 Q8N5N7 RM50_HUMAN mitochondrial ribosomal protein L50 151 mitochondrion|ribosome p.P150P(1) large_intestine(1)|lung(2)|prostate(2) 5 Acute lymphoblastic leukemia(62;0.0559) ATTTTCAAATTGGGGGGCAGAT 0.401 14 338 --- --- --- --- ABCA1 19 broad.mit.edu 37 9 107593322 107593323 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:107593322_107593323insC ENST00000374736.3 - 14 2169_2170 c.1775_1776insG c.(1774-1776)gttfs p.V592fs NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 592 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGTAGGCGAAGCCCCCCCAGAC 0.540 12 217 --- --- --- --- PAPPA 5069 broad.mit.edu 37 9 118982329 118982330 + Frame_Shift_Ins INS - - C rs34371232 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:118982329_118982330insC ENST00000328252.3 + 5 2401_2402 c.2032_2033insC c.(2032-2034)cccfs p.P678fs PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 678 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TGTTGCCCTCGCCCCCCAAGTT 0.574 13 392 --- --- --- --- TAF3 83860 broad.mit.edu 37 10 8006928 8006929 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:8006928_8006929insC ENST00000344293.5 + 3 1661_1662 c.1455_1456insC c.(1453-1458)atccccfs p.IP485fs NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 485 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 CTTCAAATATGCCCCCCAACTT 0.490 12 316 --- --- --- --- ZNF248 57209 broad.mit.edu 37 10 38121236 38121237 + Frame_Shift_Ins INS - - C rs34731183 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:38121236_38121237insC ENST00000395867.3 - 6 1596_1597 c.1046_1047insG c.(1045-1047)gaafs p.E349fs ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Frame_Shift_Ins_p.E349fs|ZNF248_ENST00000494133.1_Intron NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 CATAAGACTTTCCCCCCATGTG 0.401 7 619 --- --- --- --- SEC24C 9632 broad.mit.edu 37 10 75525559 75525560 + Splice_Site INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:75525559_75525560insC ENST00000339365.2 + 11 1530_1531 c.1366_splice c.e11-1 p.VP456_splice SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 456 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) TTCCCACAGTTCCCCCCCAGTA 0.510 12 233 --- --- --- --- HECTD2 143279 broad.mit.edu 37 10 93272060 93272061 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:93272060_93272061insC ENST00000446394.1 + 22 2362_2363 c.2262_2263insC c.(2260-2265)ctccccfs p.LP754fs HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.LP400fs|HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.LP339fs|HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.LP750fs Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 750 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 AACTTTGCCTTCCCCCCTACAA 0.356 11 720 --- --- --- --- LGI1 9211 broad.mit.edu 37 10 95552601 95552602 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:95552601_95552602insC ENST00000371418.4 + 6 865_866 c.605_606insC c.(604-606)gccfs p.A202fs LGI1_ENST00000371413.3_Frame_Shift_Ins_p.A202fs|LGI1_ENST00000542308.1_Frame_Shift_Ins_p.A154fs NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 202 LRRCT. axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding p.E205fs*9(1) central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) TACTGCGAAGGCCCCCCAGAAT 0.421 11 805 --- --- --- --- ABCC2 1244 broad.mit.edu 37 10 101558978 101558979 + Frame_Shift_Ins INS - - A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:101558978_101558979insA ENST00000370449.4 + 8 995_996 c.882_883insA c.(880-885)aaaaaafs p.KK294fs NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 294 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity p.K294N(1) NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) ATGTTGAAAAGAAAAAAAAGAA 0.441 7 342 --- --- --- --- CPN1 1369 broad.mit.edu 37 10 101816832 101816833 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:101816832_101816833insG ENST00000370418.3 - 6 1199_1200 c.948_949insC c.(946-951)ccaagafs p.R317fs NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 317 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) AACTCCTCTTCGGGGGGAAACT 0.470 10 718 --- --- --- --- TRUB1 142940 broad.mit.edu 37 10 116730191 116730192 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr10:116730191_116730192insC ENST00000298746.3 + 5 649_650 c.588_589insC c.(586-591)gtccccfs p.VP196fs NM_139169.4 NP_631908.1 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase family member 1 196 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2) 12 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) TAATGCAAGTGCCCCCCCTGTA 0.317 10 271 --- --- --- --- OR56B1 387748 broad.mit.edu 37 11 5758618 5758619 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:5758618_5758619insC ENST00000317121.3 + 1 938_939 c.872_873insC c.(871-873)accfs p.T291fs TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) CACAACATCATCCCCCCTTCCC 0.406 17 1708 --- --- --- --- APIP 51074 broad.mit.edu 37 11 34904908 34904909 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:34904908_34904909insC ENST00000395787.3 - 6 818_819 c.604_605insG c.(604-606)aacfs p.N202fs APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs|APIP_ENST00000527830.1_5'UTR NM_015957.2 NP_057041.2 Q96GX9 MTNB_HUMAN APAF1 interacting protein 202 apoptosis|L-methionine salvage cytoplasm identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity kidney(2)|lung(1)|skin(1) 4 all_epithelial(35;0.161) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.000425) CTCCCATGTTTCCCCCCACACA 0.450 8 697 --- --- --- --- OR4S1 256148 broad.mit.edu 37 11 48328524 48328525 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:48328524_48328525insC ENST00000319988.1 + 1 750_751 c.750_751insC c.(748-753)atccccfs p.IP250fs NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 TGGTTCTCATGCCCCCCATGTT 0.480 10 1292 --- --- --- --- SLC43A3 29015 broad.mit.edu 37 11 57185234 57185235 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:57185234_57185235insG ENST00000395123.2 - 8 961_962 c.657_658insC c.(655-660)ccactafs p.L220fs SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 220 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 TAGCTGTAGTTGGGGGGCAGTG 0.564 10 266 --- --- --- --- TMX2 51075 broad.mit.edu 37 11 57505845 57505846 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:57505845_57505846insC ENST00000278422.4 + 4 396_397 c.384_385insC c.(382-387)aaccccfs p.NP128fs TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs NM_015959.3 NP_057043.1 Q9Y320 TMX2_HUMAN thioredoxin-related transmembrane protein 2 128 Thioredoxin. cell redox homeostasis integral to membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2) 12 TGACGTGCAAACCCCCCCTATA 0.421 10 358 --- --- --- --- SYTL2 54843 broad.mit.edu 37 11 85435355 85435356 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:85435355_85435356insG ENST00000359152.5 - 1 3715_3716 c.3716_3717insC c.(3715-3717)cgafs p.R1239fs SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.R715fs NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 400 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CCCTGTCCTCTGGGGGGGTTAC 0.480 9 206 --- --- --- --- NCAM1 4684 broad.mit.edu 37 11 113076860 113076861 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:113076860_113076861insG ENST00000316851.7 + 4 556_557 c.556_557insG c.(556-558)gggfs p.G186fs NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 196 Ig-like C2-type 2. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AATCCTGGCACGGGGGGAGATC 0.495 23 1570 --- --- --- --- OR10G8 219869 broad.mit.edu 37 11 123900396 123900397 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:123900396_123900397insC ENST00000431524.1 + 1 100_101 c.67_68insC c.(67-69)cccfs p.P23fs NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A23T(1) breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AGCGCTGGACGCCCCCCTCTTT 0.589 12 1518 --- --- --- --- PRDM10 56980 broad.mit.edu 37 11 129827737 129827738 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:129827737_129827738insG ENST00000358825.5 - 3 368_369 c.137_138insC c.(136-138)ccafs p.P46fs PRDM10_ENST00000360871.3_Frame_Shift_Ins_p.P46fs|PRDM10_ENST00000528746.1_Frame_Shift_Ins_p.P46fs NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 46 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) CCACCTGCTGTGGGGGGCGAAC 0.545 9 636 --- --- --- --- ADAMTS8 11095 broad.mit.edu 37 11 130275723 130275724 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:130275723_130275724insG ENST00000257359.6 - 9 3105_3106 c.2399_2400insC c.(2398-2400)caafs p.Q800fs NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 800 Spacer. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) ATTTGACTTTTGGGGGGAAGAC 0.579 17 1245 --- --- --- --- NCAPD3 23310 broad.mit.edu 37 11 134048585 134048586 + Frame_Shift_Ins INS - - G rs138442478 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:134048585_134048586insG ENST00000534548.2 - 22 2789_2790 c.2725_2726insC c.(2725-2727)ggtfs p.G909fs NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 909 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding p.Q909fs*12(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) ACCTCTGACCTGGGGGGGTGGC 0.525 19 259 --- --- --- --- KDM5A 5927 broad.mit.edu 37 12 442810 442811 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:442810_442811insC ENST00000399788.2 - 12 1857_1858 c.1495_1496insG c.(1495-1497)gccfs p.A499fs KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.A499fs NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 499 JmjC. chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 TGTCTTTGGCTCCCCCCTAGCA 0.465 T NUP98 AML 7 786 --- --- --- --- TAS2R31 259290 broad.mit.edu 37 12 11183906 11183907 + Frame_Shift_Ins INS - - A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:11183906_11183907insA ENST00000390675.2 - 1 99_100 c.28_29insT c.(28-30)cagfs p.Q10fs PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 10 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 TACCACACTGGAAAAAATGATG 0.381 32 166 --- --- --- --- DDX47 51202 broad.mit.edu 37 12 12974637 12974638 + Frame_Shift_Ins INS - - A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:12974637_12974638insA ENST00000358007.3 + 4 441_442 c.419_420insA c.(418-420)gaafs p.E140fs DDX47_ENST00000352940.4_Frame_Shift_Ins_p.E140fs|RP11-59H1.3_ENST00000534843.1_3'UTR NM_016355.3 NP_057439.2 Q9H0S4 DDX47_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 140 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|protein binding|RNA binding breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Prostate(47;0.0526) BRCA - Breast invasive adenocarcinoma(232;0.0354) TTGGCCCTTGCAAAAAAACCAC 0.361 8 399 --- --- --- --- HEBP1 50865 broad.mit.edu 37 12 13142224 13142225 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:13142224_13142225insC ENST00000536942.1 - 2 353_354 c.203_204insG c.(202-204)gacfs p.D68fs HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs Q9NRV9 HEBP1_HUMAN heme binding protein 1 68 circadian rhythm extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 7 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.153) TGTCATTGGTGCCCCCCGCATA 0.554 10 1343 --- --- --- --- ITPR2 3709 broad.mit.edu 37 12 26568291 26568292 + Frame_Shift_Ins INS - - A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:26568291_26568292insA ENST00000381340.3 - 51 7666_7667 c.7250_7251insT c.(7249-7251)taafs p.*2417fs RP11-513G19.1_ENST00000535324.1_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2417 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) AGTCATCCTTCAAAAAAAGGAA 0.411 8 400 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49445525 49445526 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:49445525_49445526insG ENST00000301067.7 - 10 1939_1940 c.1940_1941insC c.(1939-1941)cccfs p.P647fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D ATACCTCAGGTGGGGGGGACAT 0.634 7 196 --- --- --- --- TROAP 10024 broad.mit.edu 37 12 49725380 49725381 + Frame_Shift_Ins INS - - C rs78835037 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:49725380_49725381insC ENST00000551245.1 + 14 2698_2699 c.2587_2588insC c.(2587-2589)cccfs p.P863fs TROAP_ENST00000547923.1_Frame_Shift_Ins_p.P452fs|TROAP_ENST00000257909.3_Frame_Shift_Ins_p.P773fs Q12815 TROAP_HUMAN trophinin associated protein 0 cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 TGGTTCTGCTGCCCCCCAGGGC 0.550 OREG0021792 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 267 --- --- --- --- DCD 117159 broad.mit.edu 37 12 55039009 55039010 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:55039009_55039010insC ENST00000456047.2 - 4 425_426 c.236_237insG c.(235-237)gctfs p.A79fs DCD_ENST00000293371.6_Frame_Shift_Ins_p.A79fs P81605 DCD_HUMAN dermcidin 79 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular region protein binding large_intestine(2)|lung(2)|ovary(1)|skin(1) 6 Myeloproliferative disorder(1001;0.0255) GTTTTCCGAGTCCCCCCACAGC 0.480 9 573 --- --- --- --- DGKA 1606 broad.mit.edu 37 12 56347513 56347514 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:56347513_56347514insC ENST00000331886.5 + 24 2623_2624 c.2169_2170insC c.(2167-2172)ccccccfs p.PP723fs DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000549079.2_3'UTR NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 723 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) TCATGGGCCCACCCCCCCGCTC 0.579 11 349 --- --- --- --- IKZF4 64375 broad.mit.edu 37 12 56429092 56429093 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:56429092_56429093insG ENST00000262032.5 + 12 2102_2103 c.1735_1736insG c.(1735-1737)gggfs p.G579fs IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|RP11-603J24.4_ENST00000551846.1_RNA Q9H2S9 IKZF4_HUMAN IKAROS family zinc finger 4 (Eos) 579 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) CCACATTGTCCGGGGGGAGCAT 0.554 14 907 --- --- --- --- DCTN2 10540 broad.mit.edu 37 12 57927805 57927806 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:57927805_57927806insG ENST00000548249.1 - 7 866_867 c.599_600insC c.(598-600)cgafs p.R200fs DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs NM_001261412.1|NM_001261413.1 NP_001248341.1|NP_001248342.1 Q13561 DCTN2_HUMAN dynactin 2 (p50) 200 cell proliferation|G2/M transition of mitotic cell cycle|mitosis centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle motor activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2) 11 GGCTGCTATCTGGGGGGGTCCC 0.500 7 118 --- --- --- --- BEST3 144453 broad.mit.edu 37 12 70049361 70049362 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:70049361_70049362insG ENST00000330891.5 - 10 1558_1559 c.1332_1333insC c.(1330-1335)ccgggcfs p.PG444fs BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 444 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GGTGAGGCCCTGGGGGGGTTTC 0.594 16 412 --- --- --- --- E2F7 144455 broad.mit.edu 37 12 77419716 77419717 + Frame_Shift_Ins INS - - G rs36042830 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:77419716_77419717insG ENST00000322886.7 - 12 2421_2422 c.2186_2187insC c.(2185-2187)cacfs p.H729fs E2F7_ENST00000416496.2_Intron NM_203394.2 NP_976328.2 Q96AV8 E2F7_HUMAN E2F transcription factor 7 729 cell cycle transcription factor complex DNA binding|identical protein binding central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2) 42 GGCCCACAGTAGGGGGGGTTTG 0.465 7 192 --- --- --- --- TMCC3 57458 broad.mit.edu 37 12 94975857 94975858 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:94975857_94975858insG ENST00000261226.4 - 2 666_667 c.535_536insC c.(535-537)ttgfs p.L179fs TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.L148fs NM_020698.2 NP_065749.2 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 179 integral to membrane NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 29 CTCCATGCAATGGGGGGCAGTT 0.495 8 344 --- --- --- --- UHRF1BP1L 23074 broad.mit.edu 37 12 100451839 100451840 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:100451839_100451840insG ENST00000279907.7 - 14 3427_3428 c.3215_3216insC c.(3214-3216)cgtfs p.R1072fs UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 1072 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 GTGTTCTAACTGGGGGGGTCTC 0.371 22 430 --- --- --- --- MYBPC1 4604 broad.mit.edu 37 12 102057273 102057274 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:102057273_102057274insC ENST00000549145.1 + 21 2355_2356 c.2255_2256insC c.(2254-2256)cccfs p.P752fs MYBPC1_ENST00000441232.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000547405.1_Frame_Shift_Ins_p.P713fs|MYBPC1_ENST00000553190.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000547509.1_Frame_Shift_Ins_p.P725fs|MYBPC1_ENST00000541119.1_Frame_Shift_Ins_p.P727fs|MYBPC1_ENST00000452455.2_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000551300.1_Frame_Shift_Ins_p.P640fs|MYBPC1_ENST00000361685.2_Frame_Shift_Ins_p.P764fs|MYBPC1_ENST00000536007.1_Frame_Shift_Ins_p.P720fs|MYBPC1_ENST00000360610.2_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000392934.3_Frame_Shift_Ins_p.P726fs|MYBPC1_ENST00000545503.2_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000361466.2_Frame_Shift_Ins_p.P764fs Q00872 MYPC1_HUMAN myosin binding protein C, slow type 739 Fibronectin type-III 2. Y -> H (in Ref. 3; CAD38925). cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 ATGAGGTGGCGCCCCCCAGACC 0.436 8 479 --- --- --- --- USP30 84749 broad.mit.edu 37 12 109495864 109495865 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:109495864_109495865insC ENST00000257548.5 + 3 420_421 c.327_328insC c.(325-330)gaccccfs p.DP109fs USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs NM_032663.3 NP_116052.2 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 109 ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2) 28 ATCAGAAGGAGCCCCCCTCACA 0.485 8 1021 --- --- --- --- KSR2 283455 broad.mit.edu 37 12 117977604 117977605 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:117977604_117977605insG ENST00000425217.1 - 10 1573_1574 c.1519_1520insC c.(1519-1521)cccfs p.P507fs KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 536 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACTAGGAGGGAGGGGGGGTGCT 0.634 8 131 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132466645 132466646 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:132466645_132466646insC ENST00000333577.4 + 6 1768_1769 c.1659_1660insC c.(1657-1662)atccccfs p.IP553fs EP400_ENST00000389562.2_Frame_Shift_Ins_p.IP516fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.IP480fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.IP517fs Q96L91 EP400_HUMAN E1A binding protein p400 553 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CAGGAGGAATGCCCCCCACGCC 0.589 7 347 --- --- --- --- MYCBP2 23077 broad.mit.edu 37 13 77641916 77641917 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:77641916_77641917insG ENST00000407578.2 - 71 12520_12521 c.12254_12255insC c.(12253-12255)cgcfs p.R4085fs MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.R4047fs|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.R4047fs NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 4047 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TGATATCTGCTGGGGGGAGGGA 0.436 9 643 --- --- --- --- ERCC5 2073 broad.mit.edu 37 13 103524612 103524612 + Frame_Shift_Del DEL A A - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr13:103524612delA ENST00000355739.4 + 13 4166 c.2743delA c.(2743-2745)aafs p.K917fs BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.1340fs|ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs NM_000123.3 NP_000114.2 excision repair cross-complementing rodent repair deficiency, complementation group 5 breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CACCAAAGTGAAAAAAAAATT 0.428 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 8 185 --- --- --- --- CHD8 57680 broad.mit.edu 37 14 21884031 21884031 + Frame_Shift_Del DEL T T - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:21884031delT ENST00000399982.2 - 5 1816 c.1752delA c.(1750-1752)aafs p.K584fs CHD8_ENST00000557364.1_Frame_Shift_Del_p.K584fs|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Frame_Shift_Del_p.K305fs NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 584 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CCTCTGTATATTTTTTTCGCT 0.398 9 456 --- --- --- --- SALL2 6297 broad.mit.edu 37 14 21992275 21992276 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:21992275_21992276insG ENST00000327430.3 - 2 1880_1881 c.1586_1587insC c.(1585-1587)cggfs p.R529fs SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Frame_Shift_Ins_p.R392fs|SALL2_ENST00000538754.1_Intron NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 529 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) CCTCACTCCCTGGGGGGGTGTT 0.530 8 130 --- --- --- --- OR4E2 26686 broad.mit.edu 37 14 22133745 22133746 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:22133745_22133746insG ENST00000408935.1 + 1 449_450 c.449_450insG c.(448-450)tggfs p.W150fs NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) GCTCTCTGGTTGGGGGGTACTG 0.480 10 571 --- --- --- --- AKAP6 9472 broad.mit.edu 37 14 32902724 32902725 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:32902724_32902725insC ENST00000280979.4 + 2 195_196 c.25_26insC c.(25-27)cccfs p.P9fs AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000554449.1_3'UTR NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 9 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CGTGACACTTTCCCCCCTGAGG 0.505 7 583 --- --- --- --- RALGAPA1 253959 broad.mit.edu 37 14 36190899 36190900 + Frame_Shift_Ins INS - - T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:36190899_36190900insT ENST00000258840.6 - 16 2650_2651 c.2260_2261insA c.(2260-2262)tgtfs p.C754fs RALGAPA1_ENST00000307138.6_Frame_Shift_Ins_p.C754fs|RALGAPA1_ENST00000382366.3_Frame_Shift_Ins_p.C754fs|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Frame_Shift_Ins_p.C754fs Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 754 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CATACCGACAGTTTTTTGCCGT 0.426 9 2417 --- --- --- --- RALGAPA1 253959 broad.mit.edu 37 14 36226074 36226075 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:36226074_36226075insG ENST00000258840.6 - 7 977_978 c.587_588insC c.(586-588)ccafs p.P196fs RALGAPA1_ENST00000307138.6_Frame_Shift_Ins_p.P196fs|RALGAPA1_ENST00000382366.3_Frame_Shift_Ins_p.P196fs|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Frame_Shift_Ins_p.P196fs Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 196 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CTCCTGATTGTGGGGGGACAAG 0.317 11 2161 --- --- --- --- CTAGE5 4253 broad.mit.edu 37 14 39818089 39818090 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:39818089_39818090insC ENST00000553728.1 + 27 3974_3975 c.3761_3762insC c.(3760-3762)tccfs p.S1254fs CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.S719fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.S690fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.S676fs|CTAGE5_ENST00000557038.1_Frame_Shift_Ins_p.S639fs|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.S690fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.S724fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.S719fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.S690fs|CTAGE5_ENST00000556148.1_Frame_Shift_Ins_p.S644fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.S707fs GGACCTCCTTTCCCCCCACCTC 0.535 9 1439 --- --- --- --- C14orf28 122525 broad.mit.edu 37 14 45369723 45369724 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:45369723_45369724insG ENST00000325192.3 + 2 360_361 c.85_86insG c.(85-87)gggfs p.G29fs C14orf28_ENST00000557112.1_Frame_Shift_Ins_p.G29fs|RP11-857B24.5_ENST00000555157.1_RNA NM_001017923.1 NP_001017923.1 Q4W4Y0 CN028_HUMAN chromosome 14 open reading frame 28 29 endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2) 11 TGTTCTTCCTTGGGGGGGTGTT 0.376 7 167 --- --- --- --- ABHD12B 145447 broad.mit.edu 37 14 51347189 51347190 + Frame_Shift_Ins INS - - G rs141865189 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:51347189_51347190insG ENST00000337334.2 + 4 370_371 c.355_356insG c.(355-357)gggfs p.G119fs PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000353130.1_Frame_Shift_Ins_p.G42fs|ABHD12B_ENST00000395752.1_Frame_Shift_Ins_p.G12fs NM_001206673.1 NP_001193602.1 Q7Z5M8 AB12B_HUMAN abhydrolase domain containing 12B 119 hydrolase activity breast(2)|endometrium(1)|large_intestine(2)|lung(5) 10 all_epithelial(31;0.00481)|Breast(41;0.148) CCCCAGCTGCCGGGGGGAAGAT 0.490 16 946 --- --- --- --- NID2 22795 broad.mit.edu 37 14 52481918 52481919 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:52481918_52481919insG ENST00000216286.5 - 15 3102_3103 c.3103_3104insC c.(3103-3105)ggafs p.G1035fs NID2_ENST00000541773.1_Frame_Shift_Ins_p.G934fs NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 1035 Thyroglobulin type-1 2. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CTGGTCATCCCGGGGGGTGCCA 0.624 7 555 --- --- --- --- IGHV4-39 28394 broad.mit.edu 37 14 106877817 106877819 + RNA DEL ACT ACT - rs113800876 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:106877817_106877819delACT ENST00000390619.2 - 0 224_226 CCCAGTAGTAACTACTACTGCTG 0.596 32 39 --- --- --- --- OR4M2 390538 broad.mit.edu 37 15 22369023 22369024 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:22369023_22369024insG ENST00000332663.2 + 1 546_547 c.448_449insG c.(448-450)gggfs p.G150fs RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R150M(2)|p.R150W(1) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTCTCCTGGAGGGGGGGCTTC 0.500 34 1015 --- --- --- --- RYR3 6263 broad.mit.edu 37 15 34078053 34078054 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:34078053_34078054insC ENST00000389232.4 + 66 9529_9530 c.9459_9460insC c.(9457-9462)ctccccfs p.LP3153fs RYR3_ENST00000415757.3_Frame_Shift_Ins_p.LP3153fs NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3153 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) CTGAGAACCTGCCCCCCAGCAC 0.564 8 566 --- --- --- --- UNC13C 440279 broad.mit.edu 37 15 54630575 54630576 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:54630575_54630576insC ENST00000545554.1 + 16 4601_4602 c.4601_4602insC c.(4600-4602)accfs p.T1534fs UNC13C_ENST00000260323.11_Frame_Shift_Ins_p.T1534fs|UNC13C_ENST00000537900.1_Frame_Shift_Ins_p.T1532fs Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1534 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) GAGCTGCAAAGCCCCCCAAAAG 0.401 7 921 --- --- --- --- HERC1 8925 broad.mit.edu 37 15 63918305 63918306 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:63918305_63918306insG ENST00000443617.2 - 71 13240_13241 c.13153_13154insC c.(13153-13155)gtafs p.V4385fs NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4385 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CGCCCCATACTGGGGGGGCACT 0.559 7 137 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64973566 64973567 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:64973566_64973567insC ENST00000326648.3 + 8 4349_4350 c.4221_4222insC c.(4219-4224)ccccccfs p.PP1407fs NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 1407 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CACTCTACCCACCCCCCAGGAG 0.470 OREG0023182 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 694 --- --- --- --- CSPG4P5 114817 broad.mit.edu 37 15 84957462 84957472 + RNA DEL GTGGCATCTGT GTGGCATCTGT - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr15:84957462_84957472delGTGGCATCTGT ENST00000558801.1 - 0 7257_7267 CACTTGTAGGGTGGCATCTGTGTGCACTGGC 0.578 5 2 --- --- --- --- ABCC1 4363 broad.mit.edu 37 16 16177395 16177397 + In_Frame_Del DEL AGA AGA - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:16177395_16177397delAGA ENST00000399408.2 + 17 2463_2465 c.2288_2290delAGA c.(2287-2292)gag>g p.EK763del ABCC1_ENST00000399410.3_In_Frame_Del_p.EK763del|ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000345148.5_In_Frame_Del_p.EK763del|ABCC1_ENST00000346370.5_In_Frame_Del_p.EK763del|ABCC1_ENST00000351154.5_Intron P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 763 ABC transporter 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GAGATTGGCGAGAAGGTCAGTAT 0.542 16 175 --- --- --- --- HS3ST2 9956 broad.mit.edu 37 16 22926721 22926722 + Frame_Shift_Ins INS - - A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:22926721_22926722insA ENST00000261374.3 + 2 1376_1377 c.942_943insA c.(940-945)ttaaaafs p.LK314fs NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 314 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) TCCCTTGCTTGAAAAAAACAGA 0.485 12 814 --- --- --- --- ITGAM 3684 broad.mit.edu 37 16 31308913 31308914 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:31308913_31308914insC ENST00000544665.3 + 13 1506_1507 c.1435_1436insC c.(1435-1437)cccfs p.P479fs ITGAM_ENST00000287497.8_Frame_Shift_Ins_p.P479fs NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 479 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 CCTCATCGGGGCCCCCCATTAC 0.673 12 783 --- --- --- --- ITGAD 3681 broad.mit.edu 37 16 31422532 31422533 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:31422532_31422533insG ENST00000389202.2 + 13 1541_1542 c.1492_1493insG c.(1492-1494)gggfs p.G498fs NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 498 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TCCCTTGCCTAGGGGGGTGAGT 0.629 8 779 --- --- --- --- RBL2 5934 broad.mit.edu 37 16 53504347 53504348 + Frame_Shift_Ins INS - - G rs67487800 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:53504347_53504348insG ENST00000262133.6 + 16 2435_2436 c.2298_2299insG c.(2296-2301)gtggggfs p.VG766fs RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 766 Pocket; binds E1A.|Spacer. cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 AAGTCAATGTTGGGGGGCAGGC 0.480 10 411 --- --- --- --- GLG1 2734 broad.mit.edu 37 16 74525008 74525009 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:74525008_74525009insC ENST00000422840.2 - 8 1338_1339 c.1339_1340insG c.(1339-1341)gatfs p.D447fs GLG1_ENST00000447066.2_Frame_Shift_Ins_p.D436fs|GLG1_ENST00000205061.5_Frame_Shift_Ins_p.D447fs NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 447 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 GTGTTCAATCTCCCCCCGACAG 0.515 9 303 --- --- --- --- TERF2IP 54386 broad.mit.edu 37 16 75690386 75690388 + In_Frame_Del DEL TCC TCC - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:75690386_75690388delTCC ENST00000300086.4 + 3 1174_1176 c.1077_1079delTCC c.(1075-1080)tac>ta p.YP359del NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 359 negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 CTGATGGATATCCCATTTGGTCC 0.453 18 412 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27001303 27001305 + In_Frame_Del DEL GAG GAG - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:27001303_27001305delGAG ENST00000314616.6 + 3 395_397 c.112_114delGAG c.(112-114)del p.E43del SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 43 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCTTCCAGATGAGGAGGAGGAGG 0.453 9 298 --- --- --- --- SSH2 85464 broad.mit.edu 37 17 27963294 27963295 + Frame_Shift_Ins INS - - G rs35554312 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:27963294_27963295insG ENST00000269033.3 - 14 2023_2024 c.1872_1873insC c.(1870-1875)cctgtcfs p.V625fs SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs|RP11-68I3.2_ENST00000581474.1_RNA NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 625 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCAGGGGACATGGGGGGGTCTT 0.470 9 267 --- --- --- --- RAB11FIP4 84440 broad.mit.edu 37 17 29758897 29758898 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:29758897_29758898insG ENST00000325874.8 + 2 455_456 c.226_227insG c.(226-228)gggfs p.G76fs NM_032932.3 NP_116321.2 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 76 EF-hand. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding p.?(1) endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) GGACTTTTGCCGGGGGGTGTTC 0.579 8 267 --- --- --- --- ACACA 31 broad.mit.edu 37 17 35600370 35600371 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:35600370_35600371insG ENST00000353139.5 - 22 3328_3329 c.2847_2848insC c.(2845-2850)ccatgtfs p.C950fs ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 913 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TTCTCCACATTGGGGGGAATGC 0.470 10 1310 --- --- --- --- KCNH4 23415 broad.mit.edu 37 17 40328258 40328259 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:40328258_40328259insC ENST00000264661.3 - 5 974_975 c.642_643insG c.(640-645)ggctcgfs p.S215fs KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 215 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) AGGCAGCGAGACCCCCCCACGG 0.604 8 285 --- --- --- --- ABCA6 23460 broad.mit.edu 37 17 67083603 67083604 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr17:67083603_67083604insG ENST00000284425.2 - 29 3883_3884 c.3709_3710insC c.(3709-3711)aagfs p.K1237fs ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1237 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) ATCTCTACTTTGGGGGGAAATT 0.376 21 1519 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9064309 9064310 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:9064309_9064310insG ENST00000397910.4 - 3 23339_23340 c.23136_23137insC c.(23134-23139)ccctccfs p.S7713fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7715 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAAGGGGAGAGGGGGGGATAT 0.530 7 273 --- --- --- --- CIB3 117286 broad.mit.edu 37 19 16275653 16275654 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:16275653_16275654insC ENST00000269878.4 - 5 466_467 c.417_418insG c.(415-420)ggtgagfs p.E140fs CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Frame_Shift_Ins_p.E91fs NM_054113.2 NP_473454.1 Q96Q77 CIB3_HUMAN calcium and integrin binding family member 3 140 calcium ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 TCGGCACTCAGCCCCCCCCGCG 0.564 7 205 --- --- --- --- CPAMD8 27151 broad.mit.edu 37 19 17081702 17081703 + Splice_Site INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:17081702_17081703insG ENST00000443236.1 - 18 2383_2384 c.2354_splice c.e18+1 p.N785_splice CPAMD8_ENST00000388925.4_3'UTR NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 738 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 AGCCGTTACCTGGGGGGGTGCC 0.569 8 47 --- --- --- --- TSHZ3 57616 broad.mit.edu 37 19 31769141 31769142 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:31769141_31769142insC ENST00000240587.4 - 2 1884_1885 c.1557_1558insG c.(1555-1560)ggttgafs p.*520fs NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 520 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) AGGATATCAAGCCCCCCCTTGG 0.500 14 439 --- --- --- --- FBL 2091 broad.mit.edu 37 19 40325193 40325193 + Frame_Shift_Del DEL G G - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:40325193delG ENST00000221801.3 - 9 1064 c.951delC c.(949-951)ccfs p.P317fs FBL_ENST00000593503.1_5'UTR NM_001436.3 NP_001427.2 P22087 FBRL_HUMAN fibrillarin 317 rRNA processing|tRNA processing box C/D snoRNP complex|Cajal body methyltransferase activity|protein binding|RNA binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1) 9 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Renal(1328;0.000518)|Hepatocellular(1079;0.0893) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138) TCTTCACCTTGGGGGGTGGCC 0.507 7 314 --- --- --- --- IGFL2 147920 broad.mit.edu 37 19 46663998 46663999 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:46663998_46663999insC ENST00000434646.2 + 4 525_526 c.234_235insC c.(232-237)ggccccfs p.GP78fs AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000600243.1_3'UTR|IGFL2_ENST00000377693.4_Frame_Shift_Ins_p.GP67fs NM_001002915.2 NP_001002915.2 Q6UWQ7 IGFL2_HUMAN IGF-like family member 2 67 extracellular region protein binding cervix(1)|lung(5) 6 Ovarian(192;0.0908)|all_neural(266;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247) GCCAATGTGGTCCCCCCTGCAC 0.554 8 1219 --- --- --- --- CARD8 22900 broad.mit.edu 37 19 48737669 48737670 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:48737669_48737670insC ENST00000391898.3 - 3 382_383 c.340_341insG c.(340-342)catfs p.H114fs CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs NM_001184900.1 NP_001171829.1 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 0 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 15 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) CCTGGGAATGTCCCCCCCAGAT 0.436 20 461 --- --- --- --- TSKS 60385 broad.mit.edu 37 19 50243063 50243064 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:50243063_50243064insG ENST00000246801.3 - 11 1830_1831 c.1748_1749insC c.(1747-1749)caafs p.Q583fs TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 583 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CCCCCTGTTTTGGGGGGGTTCC 0.545 10 230 --- --- --- --- GPR32 2854 broad.mit.edu 37 19 51274914 51274915 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:51274914_51274915insC ENST00000270590.4 + 1 1194_1195 c.1057_1058insC c.(1057-1059)cccfs p.P353fs NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 353 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CCGTGGCAACGCCCCCCGGGAA 0.525 10 193 --- --- --- --- KLK1 3816 broad.mit.edu 37 19 51326962 51326963 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr19:51326962_51326963insC ENST00000301420.2 - 1 77_78 c.42_43insG c.(40-45)ggctggfs p.W15fs KLK1_ENST00000448701.2_5'UTR NM_002257.2 NP_002248.1 P06870 KLK1_HUMAN kallikrein 1 15 proteolysis nucleus serine-type endopeptidase activity breast(1)|large_intestine(4)|lung(7)|urinary_tract(1) 13 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCTCACCAGTCCCCCCCAGGG 0.653 8 220 --- --- --- --- CST4 1472 broad.mit.edu 37 20 23667825 23667826 + Frame_Shift_Ins INS - - C rs140501583 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:23667825_23667826insC ENST00000217423.3 - 2 311_312 c.241_242insG c.(241-243)gaafs p.E81fs NM_001899.2 NP_001890.1 P01036 CYTS_HUMAN cystatin S 81 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 16 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) GAAGTAATTCACCCCCCCAAAG 0.554 15 315 --- --- --- --- TM9SF4 9777 broad.mit.edu 37 20 30737490 30737491 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:30737490_30737491insC ENST00000217315.5 + 10 1297_1298 c.957_958insC c.(955-960)agccccfs p.SP319fs TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 336 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) ACGTCTTCAGGCCCCCCCAGTA 0.604 11 99 --- --- --- --- RPRD1B 58490 broad.mit.edu 37 20 36718236 36718237 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:36718236_36718237insC ENST00000373433.4 + 7 1342_1343 c.940_941insC c.(940-942)cccfs p.P314fs RPRD1B_ENST00000471511.1_3'UTR NM_021215.3 NP_067038.1 Q9NQG5 RPR1B_HUMAN regulation of nuclear pre-mRNA domain containing 1B 314 endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1) 12 AGGGGGCTTAGCCCCCCTGCCC 0.540 7 823 --- --- --- --- RALGAPB 57148 broad.mit.edu 37 20 37146232 37146233 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:37146232_37146233insC ENST00000262879.6 + 8 1419_1420 c.1135_1136insC c.(1135-1137)cccfs p.P379fs RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 379 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity p.H382fs*2(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TGTCAGTACCACCCCCCCACAT 0.446 12 248 --- --- --- --- GNAS 2778 broad.mit.edu 37 20 57478756 57478757 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:57478756_57478757insC ENST00000371100.4 + 5 2823_2824 c.2271_2272insC c.(2269-2274)gtccccfs p.VP757fs GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371102.4_Frame_Shift_Ins_p.VP743fs|GNAS_ENST00000371085.3_Frame_Shift_Ins_p.VP114fs|GNAS_ENST00000354359.7_Frame_Shift_Ins_p.VP115fs|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000371095.3_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000265620.7_Frame_Shift_Ins_p.VP99fs|GNAS_ENST00000464624.2_3'UTR NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 114 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.V760fs*23(1)|p.V117fs*23(1) adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCAACCTGGTGCCCCCCGTGGA 0.559 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 10 526 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58467047 58467047 + Frame_Shift_Del DEL T T - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr20:58467047delT ENST00000357552.3 - 24 2587 c.2362delA c.(2362-2364)tgfs p.M788fs SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M788fs Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 788 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding p.M788fs*1(1) NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) AAGCTCACCATTTTTTTTTGT 0.323 13 317 --- --- --- --- DSCAM 1826 broad.mit.edu 37 21 41514614 41514615 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr21:41514614_41514615insG ENST00000400454.1 - 18 3753_3754 c.3276_3277insC c.(3274-3279)ccaaaafs p.PK1092fs NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1092 Fibronectin type-III 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.E1093K(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGGACATTTTCGGGGGGGTAAC 0.406 10 780 --- --- --- --- SEZ6L 23544 broad.mit.edu 37 22 26688775 26688776 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr22:26688775_26688776insC ENST00000529632.2 + 2 694_695 c.498_499insC c.(496-501)cccgggfs p.G167fs SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000248933.6_Frame_Shift_Ins_p.G167fs|SEZ6L_ENST00000360929.3_Frame_Shift_Ins_p.G167fs|SEZ6L_ENST00000404234.3_Frame_Shift_Ins_p.G167fs|SEZ6L_ENST00000343706.4_Frame_Shift_Ins_p.G167fs NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 167 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 AGCCTGGCCCACCGGGGGACCC 0.678 7 162 --- --- --- --- TMPRSS6 164656 broad.mit.edu 37 22 37499435 37499436 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr22:37499435_37499436insG ENST00000381792.2 - 2 162_163 c.22_23insC c.(22-24)ggtfs p.G8fs TMPRSS6_ENST00000406856.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000442782.2_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000346753.3_Frame_Shift_Ins_p.G17fs Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 17 angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 GCCAGCCACCTGGGGGGCCTCG 0.658 7 547 --- --- --- --- TNRC6B 23112 broad.mit.edu 37 22 40681766 40681767 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr22:40681766_40681767insC ENST00000454349.2 + 12 3911_3912 c.3700_3701insC c.(3700-3702)cccfs p.P1234fs TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000497559.1_3'UTR NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 1234 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 CCAGTTTATTTCCCCCCAGGTA 0.450 9 579 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610947 42610948 + Frame_Shift_Ins INS - - G rs138734341 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr22:42610947_42610948insG ENST00000359486.3 - 1 500_501 c.364_365insC c.(364-366)gggfs p.G122fs TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 122 Q -> R (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GCTGCTCCCCTGGGGGGGTCCA 0.564 12 482 --- --- --- --- PRRG1 5638 broad.mit.edu 37 X 37312610 37312611 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chrX:37312610_37312611insC ENST00000542554.1 + 5 665_666 c.393_394insC c.(391-396)ccccccfs p.PP131fs TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.PP131fs NM_001173489.1 NP_001166960.1 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 131 Poly-Pro. extracellular region|integral to plasma membrane calcium ion binding p.P135fs*3(1)|p.P134fs*19(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 TTATCACCCCACCCCCCCCACC 0.485 13 117 --- --- --- --- USP9X 8239 broad.mit.edu 37 X 40982956 40982957 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chrX:40982956_40982957insC ENST00000324545.7 + 2 708_709 c.75_76insC c.(73-78)caccccfs p.HP25fs USP9X_ENST00000378308.2_Frame_Shift_Ins_p.HP25fs NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 25 Q -> L (in Ref. 1; CAA66942). BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 GACAGTCTCAGCCCCCCCTCCA 0.540 9 155 --- --- --- --- SSX9 280660 broad.mit.edu 37 X 48159107 48159108 + Frame_Shift_Ins INS - - G rs41305745 by1000genomes TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chrX:48159107_48159108insG ENST00000376909.1 - 6 487_488 c.425_426insC c.(424-426)cggfs p.R142fs SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 8 TTGGTTTTCCCGGGGGGCACAG 0.490 14 544 --- --- --- --- KIAA2022 340533 broad.mit.edu 37 X 73963268 73963269 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 087484e8-dc3e-461a-be5f-4217b7c39732 g.chrX:73963268_73963269insC ENST00000373468.1 - 3 1774_1775 c.1123_1124insG c.(1123-1125)ggafs p.G375fs KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs Q5QGS0 K2022_HUMAN KIAA2022 375 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TTTATCTTCCTCCCCCCAGATG 0.475 8 710 --- --- --- --- C1orf168 199920 broad.mit.edu 37 1 57219538 57219538 + Frame_Shift_Del DEL C C - TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:57219538delC ENST00000343433.6 - 8 1281 c.1201delG c.(1201-1203)aafs p.E401fs C1orf168_ENST00000484327.1_Intron NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 401 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 GAATATGGTTCCTTTTCTGTG 0.353 13 61 --- --- --- --- LOC100130331 100130331 broad.mit.edu 37 1 238090207 238090207 + RNA DEL C C - TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr1:238090207delC ENST00000450451.1 + 0 1713 NR_027247.2 GGGGACGATGCCCCCCAAGCT 0.602 11 12 --- --- --- --- FSHR 2492 broad.mit.edu 37 2 49217718 49217718 + Frame_Shift_Del DEL G G - TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:49217718delG ENST00000406846.2 - 5 552 c.433delC c.(433-435)aafs p.Q145fs FSHR_ENST00000346173.3_Frame_Shift_Del_p.Q145fs|FSHR_ENST00000304421.4_Frame_Shift_Del_p.Q145fs|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000541117.1_5'UTR NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 145 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) AAAACTTTTTGGAGAGAATGA 0.383 Gonadal Dysgenesis, 46 XX 23 107 --- --- --- --- EIF5B 9669 broad.mit.edu 37 2 99993096 99993102 + Splice_Site DEL TGAGGTA TGAGGTA - TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr2:99993096_99993102delTGAGGTA ENST00000289371.5 + 10 2041_2044 c.1842_splice c.e10+1 p.613_splice NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 613 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 AACGGAGGATTGAGGTATTTATTTTAC 0.362 15 129 --- --- --- --- HSPD1P6 645548 broad.mit.edu 37 3 36810381 36810381 + RNA DEL T T - TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr3:36810381delT ENST00000424886.1 - 0 405 GAGTGAGGCCttttttttttt 0.542 2 4 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971057 21971058 + Frame_Shift_Ins INS - - A rs104894094 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:21971057_21971058insA ENST00000579755.1 - 2 635_636 c.343_344insT c.(343-345)gggfs p.G115fs CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.AG100fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.G115fs|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.AG100fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.AG100fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.AG100fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.G156fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.AG49fs P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 131 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.A102fs*18(1)|p.0(1)|p.G101fs*17(1)|p.T93_D105del(1)|p.A68fs*3(1)|p.G101W(1)|p.A102fs*42(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) AGCCGCGCCCCGGCCCGGTGCA 0.752 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 20 22 --- --- --- --- SPATA31A1 647060 broad.mit.edu 37 9 39361117 39361117 + Frame_Shift_Del DEL G G - TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr9:39361117delG ENST00000377647.3 + 4 3384 c.3355delG c.(3355-3357)aafs p.E1119fs NM_001085452.1 NP_001078921.1 SPATA31 subfamily A, member 1 GCCCAACTTAGAAAAACATGA 0.488 61 205 --- --- --- --- SAA3P 6290 broad.mit.edu 37 11 18136968 18136969 + RNA DEL TA TA - rs71047573 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:18136968_18136969delTA ENST00000534768.1 - 0 147 NR_026576.1 lung(2) 2 gtgtgtgtgttagtgtgtgtgt 0.421 OREG0020820 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- RP11-702H23.4 0 broad.mit.edu 37 11 74140644 74140645 + RNA INS - - C rs59029456 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr11:74140644_74140645insC ENST00000533008.1 + 0 154 cttccttccttccttccttcct 0.446 2 4 --- --- --- --- TAS2R31 259290 broad.mit.edu 37 12 11183906 11183907 + Frame_Shift_Ins INS - - A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr12:11183906_11183907insA ENST00000390675.2 - 1 99_100 c.28_29insT c.(28-30)cagfs p.Q10fs PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 10 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 TACCACACTGGAAAAAATGATG 0.381 11 71 --- --- --- --- RP11-116N8.1 0 broad.mit.edu 37 14 36463290 36463291 + RNA INS - - TCCT rs71124732 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr14:36463290_36463291insTCCT ENST00000550089.1 + 0 242 GACCATATTTAtccttccttcc 0.366 8 5 --- --- --- --- ABCC1 4363 broad.mit.edu 37 16 16177395 16177397 + In_Frame_Del DEL AGA AGA - TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:16177395_16177397delAGA ENST00000399408.2 + 17 2463_2465 c.2288_2290delAGA c.(2287-2292)gag>g p.EK763del ABCC1_ENST00000399410.3_In_Frame_Del_p.EK763del|ABCC1_ENST00000346370.5_In_Frame_Del_p.EK763del|ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000345148.5_In_Frame_Del_p.EK763del|ABCC1_ENST00000351154.5_Intron P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 763 ABC transporter 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GAGATTGGCGAGAAGGTCAGTAT 0.542 27 222 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74378976 74378976 + RNA DEL T T - rs35591542 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01D-1040-01 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 087484e8-dc3e-461a-be5f-4217b7c39732 g.chr16:74378976delT ENST00000429810.2 - 0 1086 ACCTCTTGAAttttttttttt 0.418 3 6 --- --- --- --- MROH9 80133 broad.mit.edu 37 1 170940907 170940907 + Frame_Shift_Del DEL T T - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:170940907delT ENST00000367759.4 + 8 653 c.499delT c.(499-501)gtfs p.C167fs MROH9_ENST00000367758.3_Frame_Shift_Del_p.C167fs NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 TGATGCTCCATGTTTGGGTCT 0.418 7 1530 --- --- --- --- RP11-644C3.1 0 broad.mit.edu 37 3 176561925 176561925 + RNA DEL G G - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:176561925delG ENST00000428516.1 - 0 198 agagggaggaggagaagAAAA 0.483 2 4 --- --- --- --- SDHAP1 255812 broad.mit.edu 37 3 195713385 195713386 + RNA INS - - T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:195713385_195713386insT ENST00000427841.1 - 0 176 NR_003264.2 AAAGCATGAACTTACGGAATCT 0.401 4 4 --- --- --- --- SPON2 10417 broad.mit.edu 37 4 1164242 1164243 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr4:1164242_1164243insG ENST00000290902.5 - 5 1090_1091 c.758_759insC c.(757-759)cccfs p.P253fs SPON2_ENST00000431380.1_Frame_Shift_Ins_p.P253fs NM_012445.3 NP_036577.1 Q9BUD6 SPON2_HUMAN spondin 2, extracellular matrix protein 253 axon guidance|cell adhesion|innate immune response proteinaceous extracellular matrix metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) CTGGGGCGGGAGGGATGAAGGC 0.644 42 67 --- --- --- --- RP11-445O3.2 0 broad.mit.edu 37 5 4490949 4490950 + RNA DEL GT GT - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:4490949_4490950delGT ENST00000507435.1 - 0 532 GTTGCCCAAGGTGTGTGTGTGT 0.460 2 4 --- --- --- --- SREK1IP1 285672 broad.mit.edu 37 5 64023980 64023981 + Frame_Shift_Del DEL TC TC - rs275819 byFrequency TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:64023980_64023981delTC ENST00000513458.4 - 4 398_399 c.231_232delGA c.(229-234)aaaafs p.KK77fs NM_173829.3 NP_776190.1 Q8N9Q2 SR1IP_HUMAN SREK1-interacting protein 1 77 Lys-rich. mRNA processing|RNA splicing nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|ovary(1) 6 cttttttctttcttcttttcct 0.282 2 4 --- --- --- --- AC009784.3 0 broad.mit.edu 37 7 136005675 136005675 + RNA DEL G G - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr7:136005675delG ENST00000445293.2 + 0 614 gtaggtggctggggagcatgc 0.557 2 4 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971057 21971058 + Frame_Shift_Ins INS - - A rs104894094 TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr9:21971057_21971058insA ENST00000579755.1 - 2 635_636 c.343_344insT c.(343-345)gggfs p.G115fs CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.AG100fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.AG100fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.G115fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.AG100fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.AG100fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.G156fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.AG49fs P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 131 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.A102fs*18(1)|p.0(1)|p.G101fs*17(1)|p.T93_D105del(1)|p.A68fs*3(1)|p.G101W(1)|p.A102fs*42(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) AGCCGCGCCCCGGCCCGGTGCA 0.752 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 10 8 --- --- --- --- TAS2R31 259290 broad.mit.edu 37 12 11183906 11183907 + Frame_Shift_Ins INS - - A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:11183906_11183907insA ENST00000390675.2 - 1 99_100 c.28_29insT c.(28-30)cagfs p.Q10fs TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 10 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 TACCACACTGGAAAAAATGATG 0.381 32 166 --- --- --- --- RALGAPA1 253959 broad.mit.edu 37 14 36190899 36190900 + Frame_Shift_Ins INS - - T TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr14:36190899_36190900insT ENST00000258840.6 - 16 2650_2651 c.2260_2261insA c.(2260-2262)tgtfs p.C754fs RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Frame_Shift_Ins_p.C754fs|RALGAPA1_ENST00000382366.3_Frame_Shift_Ins_p.C754fs|RALGAPA1_ENST00000307138.6_Frame_Shift_Ins_p.C754fs Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 754 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CATACCGACAGTTTTTTGCCGT 0.426 9 2417 --- --- --- --- ABCC1 4363 broad.mit.edu 37 16 16177395 16177397 + In_Frame_Del DEL AGA AGA - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr16:16177395_16177397delAGA ENST00000399408.2 + 17 2463_2465 c.2288_2290delAGA c.(2287-2292)gag>g p.EK763del ABCC1_ENST00000351154.5_Intron|ABCC1_ENST00000346370.5_In_Frame_Del_p.EK763del|ABCC1_ENST00000345148.5_In_Frame_Del_p.EK763del|ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000399410.3_In_Frame_Del_p.EK763del P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 763 ABC transporter 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GAGATTGGCGAGAAGGTCAGTAT 0.542 16 175 --- --- --- --- LIN7B 64130 broad.mit.edu 37 19 49619729 49619729 + Splice_Site DEL G G - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:49619729delG ENST00000221459.2 + 4 482 c.438_splice c.e4+1 p.V146_splice LIN7B_ENST00000391864.3_Intron NM_022165.2 NP_071448.1 Q9HAP6 LIN7B_HUMAN lin-7 homolog B (C. elegans) 146 PDZ. exocytosis|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein domain specific binding central_nervous_system(1)|endometrium(1)|prostate(1) 3 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01) TGAACGGTGTGGTGAGTGGAG 0.567 26 46 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11064722 11064722 + RNA DEL A A - TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr21:11064722delA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gccaataggcagtaagaaaat 0.488 3 3 --- --- --- --- MIATNB 102724827 broad.mit.edu 37 22 27073779 27073780 + RNA INS - - A TCGA-55-1594-01A-01W-0928-08 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffccc614-e453-4244-9cc5-8058fafc2bde 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr22:27073779_27073780insA ENST00000437071.1 + 0 183 GGGGTGAGGGtgggggcagtaa 0.500 2 4 --- --- --- --- TMEM234 56063 broad.mit.edu 37 1 32682734 32682735 + Frame_Shift_Ins INS - - A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr1:32682734_32682735insA ENST00000373593.1 - 4 473_474 c.453_454insT c.(451-456)ttctctfs p.S152fs TMEM234_ENST00000545122.1_Intron|TMEM234_ENST00000344461.3_Intron|TMEM234_ENST00000485689.1_Intron|TMEM234_ENST00000309777.6_Intron Q8WY98 TM234_HUMAN transmembrane protein 234 0 integral to membrane kidney(2)|lung(3) 5 AGCTGCAGAGGAAAGGGCAGGA 0.559 20 18 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710019 38710019 + RNA DEL T T - rs2005502 by1000genomes TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:38710019delT ENST00000417039.1 - 0 696 CTTtaaaaaataaataaataa 0.244 6 1 --- --- --- --- AC012668.1 0 broad.mit.edu 37 2 216402778 216402778 + RNA DEL C C - rs67477248 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr2:216402778delC ENST00000431727.2 - 0 235 ttccttccttccttccttcct 0.418 4 7 --- --- --- --- ERICH6-AS1 101928085 broad.mit.edu 37 3 150421899 150421900 + RNA INS - - C rs34009900 by1000genomes TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:150421899_150421900insC ENST00000475393.1 + 0 20 RP11-103G8.2_ENST00000471093.1_RNA TTCTGTCCCTGCTCTTCAGCGT 0.545 6 10 --- --- --- --- SDHAP1 255812 broad.mit.edu 37 3 195713385 195713386 + RNA INS - - T TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr3:195713385_195713386insT ENST00000427841.1 - 0 176 NR_003264.2 AAAGCATGAACTTACGGAATCT 0.401 15 21 --- --- --- --- SPON2 10417 broad.mit.edu 37 4 1164242 1164243 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr4:1164242_1164243insG ENST00000290902.5 - 5 1090_1091 c.758_759insC c.(757-759)cccfs p.P253fs SPON2_ENST00000431380.1_Frame_Shift_Ins_p.P253fs NM_012445.3 NP_036577.1 Q9BUD6 SPON2_HUMAN spondin 2, extracellular matrix protein 253 axon guidance|cell adhesion|innate immune response proteinaceous extracellular matrix metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) CTGGGGCGGGAGGGATGAAGGC 0.644 175 237 --- --- --- --- FGFR3 2261 broad.mit.edu 37 4 1807542 1807543 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr4:1807542_1807543insG ENST00000340107.4 + 13 1973_1974 c.1717_1718insG c.(1717-1719)gccfs p.A573fs FGFR3_ENST00000260795.2_Frame_Shift_Ins_p.A571fs|FGFR3_ENST00000481110.2_Frame_Shift_Ins_p.A572fs|FGFR3_ENST00000440486.2_Frame_Shift_Ins_p.A571fs|FGFR3_ENST00000412135.2_Frame_Shift_Ins_p.A459fs|FGFR3_ENST00000352904.1_Frame_Shift_Ins_p.A459fs NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 571 Protein kinase. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) gcgggcgcggcggcccccgggc 0.703 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 41 229 --- --- --- --- FAM53C 51307 broad.mit.edu 37 5 137680780 137680781 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:137680780_137680781insG ENST00000239906.5 + 4 831_832 c.403_404insG c.(403-405)gccfs p.A135fs FAM53C_ENST00000434981.2_Frame_Shift_Ins_p.A135fs|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron NM_016605.2 NP_057689.1 Q9NYF3 FA53C_HUMAN family with sequence similarity 53, member C 135 breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GCCGGTGTGGCGGCCCGCCCCC 0.683 11 189 --- --- --- --- DND1 373863 broad.mit.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr5:140052285delT ENST00000542735.1 - 3 392 c.349delA c.(349-351)cgfs p.T117fs NM_194249.2 NP_919225.1 Q8IYX4 DND1_HUMAN DND microRNA-mediated repression inhibitor 1 117 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding p.T117fs*24(1) central_nervous_system(1)|prostate(4) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTGCAGCGTGGCGATGGCG 0.682 4 8 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 9 282 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971057 21971058 + Frame_Shift_Ins INS - - A rs104894094 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr9:21971057_21971058insA ENST00000579755.1 - 2 635_636 c.343_344insT c.(343-345)gggfs p.G115fs CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.G156fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.AG100fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.AG100fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.G115fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.AG100fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.AG100fs P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 131 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.A102fs*18(1)|p.0(1)|p.G101fs*17(1)|p.T93_D105del(1)|p.A68fs*3(1)|p.G101W(1)|p.A102fs*42(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) AGCCGCGCCCCGGCCCGGTGCA 0.752 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 20 22 --- --- --- --- SPATA31A2 642265 broad.mit.edu 37 9 39890368 39890368 + Frame_Shift_Del DEL G G - TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr9:39890368delG ENST00000456183.2 + 4 3384 c.3355delG c.(3355-3357)aafs p.E1119fs NM_001040065.1 NP_001035154.1 SPATA31 subfamily A, member 2 GCCCAACTTAGAAAAACATGA 0.493 7 24 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 10 38 --- --- --- --- TAS2R31 259290 broad.mit.edu 37 12 11183906 11183907 + Frame_Shift_Ins INS - - A TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr12:11183906_11183907insA ENST00000390675.2 - 1 99_100 c.28_29insT c.(28-30)cagfs p.Q10fs PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 10 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 TACCACACTGGAAAAAATGATG 0.381 11 71 --- --- --- --- MGAT2 4247 broad.mit.edu 37 14 50088316 50088317 + Frame_Shift_Ins INS - - G TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr14:50088316_50088317insG ENST00000305386.2 + 1 828_829 c.330_331insG c.(328-333)gcgcacfs p.H111fs RP11-649E7.5_ENST00000555043.1_RNA NM_002408.3 NP_002399.1 Q10469 MGAT2_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 111 oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|Golgi stack|integral to membrane|membrane fraction alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(6) 11 all_epithelial(31;0.0021)|Breast(41;0.0124) TAGATAAGGCTGGCACCTGGGC 0.624 8 1643 --- --- --- --- LOC102723640 102723640 broad.mit.edu 37 15 72904450 72904451 + RNA DEL AG AG - rs80275855 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr15:72904450_72904451delAG ENST00000565305.1 - 0 172 aaaaaaaaaaagaaCAGCAGCT 0.421 2 4 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102292783 102292786 + RNA DEL CTCA CTCA - rs61084368 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr15:102292783_102292786delCTCA ENST00000561463.1 + 0 829_832 p.Q125E(1) GATGCTGCTTCTCAGAGCTGCTGT 0.603 12 35 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 13 385 --- --- --- --- ABCC1 4363 broad.mit.edu 37 16 16177395 16177397 + In_Frame_Del DEL AGA AGA - TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr16:16177395_16177397delAGA ENST00000399408.2 + 17 2463_2465 c.2288_2290delAGA c.(2287-2292)gag>g p.EK763del ABCC1_ENST00000351154.5_Intron|ABCC1_ENST00000399410.3_In_Frame_Del_p.EK763del|ABCC1_ENST00000345148.5_In_Frame_Del_p.EK763del|ABCC1_ENST00000346370.5_In_Frame_Del_p.EK763del|ABCC1_ENST00000349029.5_Intron P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 763 ABC transporter 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GAGATTGGCGAGAAGGTCAGTAT 0.542 27 222 --- --- --- --- FBXO31 79791 broad.mit.edu 37 16 87367559 87367560 + Frame_Shift_Ins INS - - C TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr16:87367559_87367560insC ENST00000311635.7 - 8 1341_1342 c.1329_1330insG c.(1327-1332)ggagccfs p.A444fs RP11-178L8.4_ENST00000568879.1_Frame_Shift_Ins_p.E107fs NM_024735.3 NP_079011.3 Q5XUX0 FBX31_HUMAN F-box protein 31 444 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0272) ACGAACGGCTGCCCCTGCCCAC 0.678 8 130 --- --- --- --- RP11-161I6.2 0 broad.mit.edu 37 18 2089466 2089466 + RNA DEL A A - rs58767171 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr18:2089466delA ENST00000579097.1 - 0 310 CTGCCCCCCCACCCACTCACC 0.527 6 1 --- --- --- --- CYP4F8 11283 broad.mit.edu 37 19 15726721 15726722 + RNA INS - - ACTCACTCATTCCTCTGATC rs148338083 by1000genomes TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:15726721_15726722insACTCACTCATTCCTCTGATC ENST00000441682.2 + 0 262 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 ACGGCAGAGAAactcactcatt 0.559 5 10 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 9 462 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299147 46299149 + In_Frame_Del DEL CCT CCT - TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:46299147_46299149delCCT ENST00000221538.3 - 6 2274_2276 c.2132_2134delAGG c.(2131-2136)ggc>g p.EG711del RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG447del|RSPH6A_ENST00000597055.1_3'UTR NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 711 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 GTctcctcgccctcctcctcctc 0.557 14 327 --- --- --- --- LIN7B 64130 broad.mit.edu 37 19 49619729 49619729 + Splice_Site DEL G G - TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr19:49619729delG ENST00000221459.2 + 4 482 c.438_splice c.e4+1 p.V146_splice LIN7B_ENST00000391864.3_Intron NM_022165.2 NP_071448.1 Q9HAP6 LIN7B_HUMAN lin-7 homolog B (C. elegans) 146 PDZ. exocytosis|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein domain specific binding central_nervous_system(1)|endometrium(1)|prostate(1) 3 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01) TGAACGGTGTGGTGAGTGGAG 0.567 48 88 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11059163 11059163 + RNA DEL G G - rs141258961 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr21:11059163delG ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATCTCTCTGTGGGAAATGACT 0.368 8 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11064722 11064722 + RNA DEL A A - TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr21:11064722delA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gccaataggcagtaagaaaat 0.488 5 10 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11071401 11071402 + RNA INS - - A rs142400815 TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr21:11071401_11071402insA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) aggctaccaagaaaaaaaaact 0.411 3 3 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120323 38120325 + In_Frame_Del DEL CCT CCT - TCGA-55-1594-01A-01D-1040-01 TCGA-55-1594-11A-01W-0928-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88620207-646f-49ec-bb4f-7e8fd22e77ae 2ed62e6d-7bd6-4803-9a6c-e949a2a19739 g.chr22:38120323_38120325delCCT ENST00000406386.3 + 7 2015_2017 c.1760_1762delCCT c.(1759-1764)gcc>g p.AS587del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 587 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAA 0.596 7 496 --- --- --- ---