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 CSMD3 114788 broad.mit.edu 37 8 113308118 113308118 + Missense_Mutation SNP G G A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr8:113308118G>A ENST00000297405.5 - 54 8802 c.8558C>T c.(8557-8559)tCa>tTa p.S2853L CSMD3_ENST00000343508.3_Missense_Mutation_p.S2813L|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2684L|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2783L NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2853 Sushi 18. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TATCCTCACTGAAGAACCAAT 0.408000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 21 0 0 1 0 0 FOXA1 3169 broad.mit.edu 37 14 38061623 38061623 + Silent SNP G G A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr14:38061623G>A ENST00000250448.2 - 2 427 c.366C>T c.(364-366)gcC>gcT p.A122A FOXA1_ENST00000540786.1_Silent_p.A89A|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 122 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) CATTCATGGAGGCCGCCTGCT 0.746000 7 8 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 71535425 71535425 + Missense_Mutation SNP G G T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr15:71535425G>T ENST00000355327.3 + 5 1036 c.902G>T c.(901-903)tGc>tTc p.C301F THSD4_ENST00000261862.6_Missense_Mutation_p.C301F Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 301 TSP type-1 1. proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TACAAGCTGTGCAACACCAAC 0.542000 10 39 2.17888e-05 2.34229e-05 1 1 0 LINGO2 158038 broad.mit.edu 37 9 27948977 27948977 + Missense_Mutation SNP C C T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr9:27948977C>T ENST00000379992.2 - 6 2142 c.1693G>A c.(1693-1695)Gtg>Atg p.V565M LINGO2_ENST00000308675.3_Missense_Mutation_p.V565M NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 565 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) CGGCTCCACACAAAAAGGAGA 0.453000 6 67 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61432335 61432335 + Silent SNP C C A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr17:61432335C>A ENST00000424789.2 + 12 1948 c.1944C>A c.(1942-1944)acC>acA p.T648T TANC2_ENST00000389520.4_Silent_p.T648T NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 648 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 ATCTCAAGACCCTCAGTCAAG 0.398000 33 110 5.09552e-08 5.76598e-08 1 1 0 OFCC1 266553 broad.mit.edu 37 6 9908812 9908812 + Silent SNP A A G TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr6:9908812A>G ENST00000316020.6 - 5 485 c.486T>C c.(484-486)ttT>ttC p.F162F OFCC1_ENST00000472329.1_5'UTR orofacial cleft 1 candidate 1 endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1) 11 Ovarian(93;0.0473)|Breast(50;0.201) all_hematologic(90;0.124) TCAGTGGGTCAAAGTAATTTC 0.393000 22 69 0 0 1 0 0 RBPMS2 348093 broad.mit.edu 37 15 65041629 65041629 + Splice_Site SNP C C T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr15:65041629C>T ENST00000300069.4 - 4 535 c.e4+1 RBPMS2_ENST00000560606.1_Splice_Site NM_194272.1 NP_919248.1 Q6ZRY4 RBPS2_HUMAN RNA binding protein with multiple splicing 2 nucleic acid binding|nucleotide binding breast(1)|large_intestine(3)|lung(3)|prostate(1) 8 CACCTACTCACGTTCAGCGCA 0.517000 18 68 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977145 29977145 + RNA SNP G G C rs115037049 byFrequency TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr6:29977145G>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA GCTTGTAAAGGTGAGACCCTG 0.512000 3 56 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43821147 43821147 + Nonsense_Mutation SNP C C A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr15:43821147C>A ENST00000382031.1 + 5 8221 c.8190C>A c.(8188-8190)tgC>tgA p.C2730* MAP1A_ENST00000399453.1_Nonsense_Mutation_p.C2492*|MAP1A_ENST00000300231.5_Nonsense_Mutation_p.C2492* P78559 MAP1A_HUMAN microtubule-associated protein 1A 2492 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GGGGCCCATGCCCTGTGACTG 0.597000 24 65 1.10923e-09 1.28911e-09 1 1 0 ACSBG1 23205 broad.mit.edu 37 15 78471897 78471897 + Silent SNP C C G TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr15:78471897C>G ENST00000258873.4 - 10 1684 c.1479G>C c.(1477-1479)ctG>ctC p.L493L ACSBG1_ENST00000541759.1_Silent_p.L251L|ACSBG1_ENST00000560817.1_Silent_p.L251L NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 493 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 CTCACCTGTACAGCCGGTAGT 0.597000 9 24 0 0 1 0 0 GBP4 115361 broad.mit.edu 37 1 89652043 89652043 + Missense_Mutation SNP A A T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr1:89652043A>T ENST00000355754.6 - 10 1777 c.1680T>A c.(1678-1680)caT>caA p.H560Q NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 560 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) GCAGCCTTTCATGCTCTCTGA 0.478000 19 78 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22155727 22155727 + Missense_Mutation SNP G G C TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr19:22155727G>C ENST00000397126.4 - 4 2257 c.2109C>G c.(2107-2109)aaC>aaG p.N703K ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 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) TTGAGGACCAGTTGAAAGCTT 0.378000 9 42 0 0 1 0 0 KCNS2 3788 broad.mit.edu 37 8 99440249 99440249 + Silent SNP C C A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr8:99440249C>A ENST00000287042.4 + 2 392 c.42C>A c.(40-42)gtC>gtA p.V14V KCNS2_ENST00000521839.1_Silent_p.V14V NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 14 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) AGGCTAACGTCGAGGACGGGG 0.716000 4 14 0.00024832 0.000254232 1 1 0 VARS2 57176 broad.mit.edu 37 6 30884980 30884980 + Missense_Mutation SNP A A T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr6:30884980A>T ENST00000321897.5 + 8 1484 c.852A>T c.(850-852)agA>agT p.R284S VARS2_ENST00000542001.1_Missense_Mutation_p.R144S|VARS2_ENST00000541562.1_Missense_Mutation_p.R314S|VARS2_ENST00000416670.2_Missense_Mutation_p.R284S Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 284 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 GTGCTTTAAGATCAGCCATCT 0.537000 46 96 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 3 19 0 0 1 0 0 HOXC4 3221 broad.mit.edu 37 12 54448666 54448666 + Missense_Mutation SNP C C T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr12:54448666C>T ENST00000430889.2 + 2 518 c.472C>T c.(472-474)Cgc>Tgc p.R158C HOXC4_ENST00000303406.4_Missense_Mutation_p.R158C NM_153633.2 NP_705897.1 P09017 HXC4_HUMAN homeobox C4 158 R -> L (in dbSNP:rs11835301). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 13 GGAACCCAAGCGCTCGAGGAC 0.577000 5 32 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12501393 12501393 + Missense_Mutation SNP T T C TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr19:12501393T>C ENST00000419318.1 - 4 2472 c.1723A>G c.(1723-1725)Aaa>Gaa p.K575E ZNF799_ENST00000430385.3_Missense_Mutation_p.K607E|CTD-3105H18.14_ENST00000435033.1_Intron Q96GE5 ZN799_HUMAN zinc finger protein 799 607 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TGAGTCTTTTTATGTCTATGC 0.398000 31 91 0 0 1 0 0 ZFPM1 161882 broad.mit.edu 37 16 88598619 88598619 + Missense_Mutation SNP G G A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr16:88598619G>A ENST00000319555.3 + 7 1244 c.922G>A c.(922-924)Gag>Aag p.E308K NM_153813.2 NP_722520.2 Q8IX07 FOG1_HUMAN zinc finger protein, FOG family member 1 308 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding central_nervous_system(1)|ovary(2)|urinary_tract(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0478) CAGCTCCCTGGAGATCCACAT 0.706000 12 31 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47696425 47696425 + Missense_Mutation SNP A A G TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr17:47696425A>G ENST00000393331.3 - 7 868 c.398T>C c.(397-399)tTc>tCc p.F133S SPOP_ENST00000393328.2_Missense_Mutation_p.F133S|SPOP_ENST00000347630.2_Missense_Mutation_p.F133S|SPOP_ENST00000503676.1_Missense_Mutation_p.F133S|SPOP_ENST00000504102.1_Missense_Mutation_p.F133S NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133C(3)|p.F133S(2) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 GAATTTCTTGAATCCCCAGTC 0.448000 Prostate(2;0.17) 43 95 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400799 195400799 + RNA SNP G G A rs7635172 by1000genomes TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr3:195400799G>A ENST00000445430.1 + 0 1395 CAAACTCGCTGTTGGACCTGG 0.597000 3 26 0 0 1 0 0 ALPI 248 broad.mit.edu 37 2 233323610 233323610 + Silent SNP G G A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr2:233323610G>A ENST00000295463.3 + 11 1418 c.1341G>A c.(1339-1341)tcG>tcA p.S447S NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 447 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) TGCCCCTGTCGTCCGAGACCC 0.692000 4 15 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274157 39274157 + Silent SNP G G A rs145503152 TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr17:39274157G>A ENST00000391413.2 - 1 449 c.411C>T c.(409-411)ccC>ccT p.P137P NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 137 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.P137P(3) 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) tgctgcagctggggtggcagc 0.672000 3 30 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 4 5 0 0 1 0 0 ZNF559 84527 broad.mit.edu 37 19 9453237 9453237 + Silent SNP A A G TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr19:9453237A>G ENST00000393883.2 + 6 1758 c.1110A>G c.(1108-1110)gtA>gtG p.V370V ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Silent_p.V290V|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000603380.1_Silent_p.V370V|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000587557.1_Silent_p.V434V|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000605471.1_Intron NM_001202412.1 NP_001189341.1 Q9BR84 ZN559_HUMAN zinc finger protein 559 370 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 ATCTTACTGTACATATGAGAA 0.388000 4 44 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887550 12887550 + Missense_Mutation SNP C C T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr1:12887550C>T ENST00000535591.1 - 3 502 c.307G>A c.(307-309)Gaa>Aaa p.E103K NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 103 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGCTGCCGTTCTCTCATCCTT 0.502000 66 244 0 0 1 0 0 TMEM169 92691 broad.mit.edu 37 2 216964862 216964862 + Missense_Mutation SNP C C T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr2:216964862C>T ENST00000454545.1 + 4 817 c.491C>T c.(490-492)aCg>aTg p.T164M TMEM169_ENST00000406027.2_Missense_Mutation_p.T164M|TMEM169_ENST00000295658.4_Missense_Mutation_p.T164M|TMEM169_ENST00000437356.2_Missense_Mutation_p.T164M NM_001142310.1 NP_001135782.1 Q96HH4 TM169_HUMAN transmembrane protein 169 164 integral to membrane breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2) 13 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTCCTCTGGACGCTGATCTGC 0.502000 8 101 0 0 1 0 0 ZC3H4 23211 broad.mit.edu 37 19 47570989 47570989 + Missense_Mutation SNP C C A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr19:47570989C>A ENST00000253048.5 - 15 2573 c.2536G>T c.(2536-2538)Gac>Tac p.D846Y ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 846 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) AGGCGGGGGTCCCCCAGCCCA 0.682000 6 13 0.0215528 0.0215528 1 1 0 MTMR3 8897 broad.mit.edu 37 22 30416351 30416351 + Silent SNP G G A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr22:30416351G>A ENST00000333027.3 + 17 3031 c.2703G>A c.(2701-2703)agG>agA p.R901R MTMR3_ENST00000406629.1_Silent_p.R901R|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Silent_p.R765R|MTMR3_ENST00000401950.2_Silent_p.R901R|MTMR3_ENST00000351488.3_Silent_p.R901R NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 901 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TGGTGCATAGGACTTCCCTTG 0.562000 17 51 0 0 1 0 0 TRPC3 7222 broad.mit.edu 37 4 122824123 122824123 + Missense_Mutation SNP C C A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr4:122824123C>A ENST00000264811.5 - 8 2546 c.2128G>T c.(2128-2130)Gtt>Ttt p.V710F TRPC3_ENST00000513531.1_Missense_Mutation_p.V655F|TRPC3_ENST00000379645.3_Missense_Mutation_p.V783F NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 698 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity 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 GGACTAGGAACTAGACTGAAA 0.378000 13 56 0.00010058 0.000105486 1 1 0 APPBP2 10513 broad.mit.edu 37 17 58529353 58529353 + Silent SNP A A G TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr17:58529353A>G ENST00000083182.3 - 12 1679 c.1392T>C c.(1390-1392)ggT>ggC p.G464G NM_006380.2 NP_006371.2 Q92624 APBP2_HUMAN amyloid beta precursor protein (cytoplasmic tail) binding protein 2 464 intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1) 25 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) AATCTTCTTGACCAAGAAGTT 0.323000 4 61 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146412 70146412 + Missense_Mutation SNP A A G TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr4:70146412A>G ENST00000335568.5 + 1 196 c.194A>G c.(193-195)gAt>gGt p.D65G UGT2B28_ENST00000511240.1_Missense_Mutation_p.D65G NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 65 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) ATTCTTTTTGATCCCAATGAC 0.383000 2 4 0 0 1 0 0 EMR2 30817 broad.mit.edu 37 19 14877173 14877173 + Missense_Mutation SNP C C T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr19:14877173C>T ENST00000315576.3 - 7 959 c.508G>A c.(508-510)Gga>Aga p.G170R EMR2_ENST00000594076.1_Intron|EMR2_ENST00000594294.1_Intron|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000596991.2_Missense_Mutation_p.G170R|EMR2_ENST00000601345.1_Missense_Mutation_p.G170R|EMR2_ENST00000392965.3_Missense_Mutation_p.G170R|EMR2_ENST00000392967.2_Missense_Mutation_p.G170R|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000346057.1_Intron|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000353876.1_Intron NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 170 EGF-like 4; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 GGGTTTTGTCCGGAGGTGCAT 0.622000 20 64 0 0 1 0 0 MYO9B 4650 broad.mit.edu 37 19 17311626 17311626 + Missense_Mutation SNP C C A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr19:17311626C>A ENST00000595618.1 + 26 4703 c.4551C>A c.(4549-4551)ttC>ttA p.F1517L MYO9B_ENST00000594824.1_Missense_Mutation_p.F1517L|MYO9B_ENST00000397274.2_Missense_Mutation_p.F1517L NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1517 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 TGGACGAGTTCCTGCTCAACA 0.552000 20 53 1.15919e-05 1.27808e-05 1 1 0 LINC00969 0 broad.mit.edu 37 3 195400795 195400795 + RNA SNP C C T rs7615357 by1000genomes TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr3:195400795C>T ENST00000445430.1 + 0 1391 GGGGCAAACTCGCTGTTGGAC 0.592000 4 26 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49432198 49432198 + Missense_Mutation SNP G G C TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr12:49432198G>C ENST00000301067.7 - 34 8940 c.8941C>G c.(8941-8943)Ctg>Gtg p.L2981V NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCAGCTTCCAGGGCCAGAGGA 0.602000 4 61 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186136032 186136032 + Missense_Mutation SNP G G A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr1:186136032G>A ENST00000271588.4 + 100 15761 c.15532G>A c.(15532-15534)Gga>Aga p.G5178R HMCN1_ENST00000367492.2_Missense_Mutation_p.G5178R NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 5178 EGF-like 2; calcium-binding (Potential). response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GGTCCGTTGTGGAAGTGGCTT 0.453000 17 57 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113308118 113308118 + Missense_Mutation SNP G G A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr8:113308118G>A ENST00000297405.5 - 54 8802 c.8558C>T c.(8557-8559)tCa>tTa p.S2853L CSMD3_ENST00000455883.2_Missense_Mutation_p.S2684L|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2813L|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2783L NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2853 Sushi 18. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TATCCTCACTGAAGAACCAAT 0.408000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 21 0 0 1 0 0 FOXA1 3169 broad.mit.edu 37 14 38061623 38061623 + Silent SNP G G A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr14:38061623G>A ENST00000250448.2 - 2 427 c.366C>T c.(364-366)gcC>gcT p.A122A FOXA1_ENST00000540786.1_Silent_p.A89A|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 122 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) CATTCATGGAGGCCGCCTGCT 0.746000 7 8 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 71535425 71535425 + Missense_Mutation SNP G G T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr15:71535425G>T ENST00000355327.3 + 5 1036 c.902G>T c.(901-903)tGc>tTc p.C301F THSD4_ENST00000261862.6_Missense_Mutation_p.C301F Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 301 TSP type-1 1. proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TACAAGCTGTGCAACACCAAC 0.542000 10 39 2.17888e-05 2.39145e-05 1 1 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 5 89 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27948977 27948977 + Missense_Mutation SNP C C T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr9:27948977C>T ENST00000379992.2 - 6 2142 c.1693G>A c.(1693-1695)Gtg>Atg p.V565M LINGO2_ENST00000308675.3_Missense_Mutation_p.V565M NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 565 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) CGGCTCCACACAAAAAGGAGA 0.453000 6 67 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61432335 61432335 + Silent SNP C C A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr17:61432335C>A ENST00000424789.2 + 12 1948 c.1944C>A c.(1942-1944)acC>acA p.T648T TANC2_ENST00000389520.4_Silent_p.T648T NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 648 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 ATCTCAAGACCCTCAGTCAAG 0.398000 33 110 5.09552e-08 5.87945e-08 1 1 0 OFCC1 266553 broad.mit.edu 37 6 9908812 9908812 + Silent SNP A A G TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr6:9908812A>G ENST00000316020.6 - 5 485 c.486T>C c.(484-486)ttT>ttC p.F162F OFCC1_ENST00000472329.1_5'UTR orofacial cleft 1 candidate 1 endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1) 11 Ovarian(93;0.0473)|Breast(50;0.201) all_hematologic(90;0.124) TCAGTGGGTCAAAGTAATTTC 0.393000 22 69 0 0 1 0 0 RBPMS2 348093 broad.mit.edu 37 15 65041629 65041629 + Splice_Site SNP C C T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr15:65041629C>T ENST00000300069.4 - 4 535 c.e4+1 RBPMS2_ENST00000560606.1_Splice_Site NM_194272.1 NP_919248.1 Q6ZRY4 RBPS2_HUMAN RNA binding protein with multiple splicing 2 nucleic acid binding|nucleotide binding breast(1)|large_intestine(3)|lung(3)|prostate(1) 8 CACCTACTCACGTTCAGCGCA 0.517000 18 68 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977145 29977145 + RNA SNP G G C rs115037049 byFrequency TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr6:29977145G>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA GCTTGTAAAGGTGAGACCCTG 0.512000 3 56 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 3 31 0.115264 0.115264 1 1 0 MAP1A 4130 broad.mit.edu 37 15 43821147 43821147 + Nonsense_Mutation SNP C C A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr15:43821147C>A ENST00000382031.1 + 5 8221 c.8190C>A c.(8188-8190)tgC>tgA p.C2730* MAP1A_ENST00000399453.1_Nonsense_Mutation_p.C2492*|MAP1A_ENST00000300231.5_Nonsense_Mutation_p.C2492* P78559 MAP1A_HUMAN microtubule-associated protein 1A 2492 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GGGGCCCATGCCCTGTGACTG 0.597000 24 65 1.10923e-09 1.31356e-09 1 1 0 ACSBG1 23205 broad.mit.edu 37 15 78471897 78471897 + Silent SNP C C G TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr15:78471897C>G ENST00000258873.4 - 10 1684 c.1479G>C c.(1477-1479)ctG>ctC p.L493L ACSBG1_ENST00000560817.1_Silent_p.L251L|ACSBG1_ENST00000541759.1_Silent_p.L251L NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 493 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 CTCACCTGTACAGCCGGTAGT 0.597000 9 24 0 0 1 0 0 GBP4 115361 broad.mit.edu 37 1 89652043 89652043 + Missense_Mutation SNP A A T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr1:89652043A>T ENST00000355754.6 - 10 1777 c.1680T>A c.(1678-1680)caT>caA p.H560Q NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 560 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) GCAGCCTTTCATGCTCTCTGA 0.478000 19 78 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22155727 22155727 + Missense_Mutation SNP G G C TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr19:22155727G>C ENST00000397126.4 - 4 2257 c.2109C>G c.(2107-2109)aaC>aaG p.N703K ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 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) TTGAGGACCAGTTGAAAGCTT 0.378000 9 42 0 0 1 0 0 KCNS2 3788 broad.mit.edu 37 8 99440249 99440249 + Silent SNP C C A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr8:99440249C>A ENST00000287042.4 + 2 392 c.42C>A c.(40-42)gtC>gtA p.V14V KCNS2_ENST00000521839.1_Silent_p.V14V NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 14 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) AGGCTAACGTCGAGGACGGGG 0.716000 4 14 0.00024832 0.00025987 1 1 0 VARS2 57176 broad.mit.edu 37 6 30884980 30884980 + Missense_Mutation SNP A A T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr6:30884980A>T ENST00000321897.5 + 8 1484 c.852A>T c.(850-852)agA>agT p.R284S VARS2_ENST00000416670.2_Missense_Mutation_p.R284S|VARS2_ENST00000542001.1_Missense_Mutation_p.R144S|VARS2_ENST00000541562.1_Missense_Mutation_p.R314S Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 284 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 GTGCTTTAAGATCAGCCATCT 0.537000 46 96 0 0 1 0 0 HOXC4 3221 broad.mit.edu 37 12 54448666 54448666 + Missense_Mutation SNP C C T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr12:54448666C>T ENST00000430889.2 + 2 518 c.472C>T c.(472-474)Cgc>Tgc p.R158C HOXC4_ENST00000303406.4_Missense_Mutation_p.R158C NM_153633.2 NP_705897.1 P09017 HXC4_HUMAN homeobox C4 158 R -> L (in dbSNP:rs11835301). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 13 GGAACCCAAGCGCTCGAGGAC 0.577000 5 32 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12501393 12501393 + Missense_Mutation SNP T T C TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr19:12501393T>C ENST00000419318.1 - 4 2472 c.1723A>G c.(1723-1725)Aaa>Gaa p.K575E CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.K607E Q96GE5 ZN799_HUMAN zinc finger protein 799 607 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TGAGTCTTTTTATGTCTATGC 0.398000 31 91 0 0 1 0 0 ZFPM1 161882 broad.mit.edu 37 16 88598619 88598619 + Missense_Mutation SNP G G A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr16:88598619G>A ENST00000319555.3 + 7 1244 c.922G>A c.(922-924)Gag>Aag p.E308K NM_153813.2 NP_722520.2 Q8IX07 FOG1_HUMAN zinc finger protein, FOG family member 1 308 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding central_nervous_system(1)|ovary(2)|urinary_tract(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0478) CAGCTCCCTGGAGATCCACAT 0.706000 12 31 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47696425 47696425 + Missense_Mutation SNP A A G TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr17:47696425A>G ENST00000393331.3 - 7 868 c.398T>C c.(397-399)tTc>tCc p.F133S SPOP_ENST00000504102.1_Missense_Mutation_p.F133S|SPOP_ENST00000393328.2_Missense_Mutation_p.F133S|SPOP_ENST00000347630.2_Missense_Mutation_p.F133S|SPOP_ENST00000503676.1_Missense_Mutation_p.F133S NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133C(3)|p.F133S(2) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 GAATTTCTTGAATCCCCAGTC 0.448000 Prostate(2;0.17) 43 95 0 0 1 0 0 APPBP2 10513 broad.mit.edu 37 17 58529353 58529353 + Silent SNP A A G TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr17:58529353A>G ENST00000083182.3 - 12 1679 c.1392T>C c.(1390-1392)ggT>ggC p.G464G NM_006380.2 NP_006371.2 Q92624 APBP2_HUMAN amyloid beta precursor protein (cytoplasmic tail) binding protein 2 464 intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1) 25 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) AATCTTCTTGACCAAGAAGTT 0.323000 4 61 0 0 1 0 0 ALPI 248 broad.mit.edu 37 2 233323610 233323610 + Silent SNP G G A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr2:233323610G>A ENST00000295463.3 + 11 1418 c.1341G>A c.(1339-1341)tcG>tcA p.S447S NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 447 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) TGCCCCTGTCGTCCGAGACCC 0.692000 4 15 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274157 39274157 + Silent SNP G G A rs145503152 TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr17:39274157G>A ENST00000391413.2 - 1 449 c.411C>T c.(409-411)ccC>ccT p.P137P NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 137 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.P137P(3) 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) tgctgcagctggggtggcagc 0.672000 3 30 0 0 1 0 0 ZNF559 84527 broad.mit.edu 37 19 9453237 9453237 + Silent SNP A A G TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr19:9453237A>G ENST00000393883.2 + 6 1758 c.1110A>G c.(1108-1110)gtA>gtG p.V370V ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000603380.1_Silent_p.V370V|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000587557.1_Silent_p.V434V|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Silent_p.V290V NM_001202412.1 NP_001189341.1 Q9BR84 ZN559_HUMAN zinc finger protein 559 370 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 ATCTTACTGTACATATGAGAA 0.388000 4 44 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887550 12887550 + Missense_Mutation SNP C C T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr1:12887550C>T ENST00000535591.1 - 3 502 c.307G>A c.(307-309)Gaa>Aaa p.E103K NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 103 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGCTGCCGTTCTCTCATCCTT 0.502000 66 244 0 0 1 0 0 TMEM169 92691 broad.mit.edu 37 2 216964862 216964862 + Missense_Mutation SNP C C T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr2:216964862C>T ENST00000454545.1 + 4 817 c.491C>T c.(490-492)aCg>aTg p.T164M TMEM169_ENST00000437356.2_Missense_Mutation_p.T164M|TMEM169_ENST00000406027.2_Missense_Mutation_p.T164M|TMEM169_ENST00000295658.4_Missense_Mutation_p.T164M NM_001142310.1 NP_001135782.1 Q96HH4 TM169_HUMAN transmembrane protein 169 164 integral to membrane breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2) 13 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTCCTCTGGACGCTGATCTGC 0.502000 8 101 0 0 1 0 0 ZC3H4 23211 broad.mit.edu 37 19 47570989 47570989 + Missense_Mutation SNP C C A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr19:47570989C>A ENST00000253048.5 - 15 2573 c.2536G>T c.(2536-2538)Gac>Tac p.D846Y ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 846 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) AGGCGGGGGTCCCCCAGCCCA 0.682000 6 13 0.0215528 0.0220426 1 1 0 MTMR3 8897 broad.mit.edu 37 22 30416351 30416351 + Silent SNP G G A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr22:30416351G>A ENST00000333027.3 + 17 3031 c.2703G>A c.(2701-2703)agG>agA p.R901R MTMR3_ENST00000323630.5_Silent_p.R765R|MTMR3_ENST00000406629.1_Silent_p.R901R|MTMR3_ENST00000401950.2_Silent_p.R901R|MTMR3_ENST00000351488.3_Silent_p.R901R|CTA-85E5.10_ENST00000429350.1_RNA NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 901 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TGGTGCATAGGACTTCCCTTG 0.562000 17 51 0 0 1 0 0 TRPC3 7222 broad.mit.edu 37 4 122824123 122824123 + Missense_Mutation SNP C C A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr4:122824123C>A ENST00000264811.5 - 8 2546 c.2128G>T c.(2128-2130)Gtt>Ttt p.V710F TRPC3_ENST00000379645.3_Missense_Mutation_p.V783F|TRPC3_ENST00000513531.1_Missense_Mutation_p.V655F NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 698 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity 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 GGACTAGGAACTAGACTGAAA 0.378000 13 56 0.00010058 0.000107764 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90161753 90161753 + RNA SNP T T C rs6500470 by1000genomes TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr16:90161753T>C ENST00000564451.1 + 0 1106 TUBB8P7_ENST00000567960.1_RNA CAGACAGGATTATAAACACAT 0.562000 6 99 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146412 70146412 + Missense_Mutation SNP A A G TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr4:70146412A>G ENST00000335568.5 + 1 196 c.194A>G c.(193-195)gAt>gGt p.D65G UGT2B28_ENST00000511240.1_Missense_Mutation_p.D65G NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 65 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) ATTCTTTTTGATCCCAATGAC 0.383000 2 4 0 0 1 0 0 EMR2 30817 broad.mit.edu 37 19 14877173 14877173 + Missense_Mutation SNP C C T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr19:14877173C>T ENST00000315576.3 - 7 959 c.508G>A c.(508-510)Gga>Aga p.G170R EMR2_ENST00000392964.3_Intron|EMR2_ENST00000392965.3_Missense_Mutation_p.G170R|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000392967.2_Missense_Mutation_p.G170R|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000596991.2_Missense_Mutation_p.G170R|EMR2_ENST00000346057.1_Intron|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000594294.1_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.G170R|EMR2_ENST00000353876.1_Intron NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 170 EGF-like 4; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 GGGTTTTGTCCGGAGGTGCAT 0.622000 20 64 0 0 1 0 0 MYO9B 4650 broad.mit.edu 37 19 17311626 17311626 + Missense_Mutation SNP C C A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr19:17311626C>A ENST00000595618.1 + 26 4703 c.4551C>A c.(4549-4551)ttC>ttA p.F1517L MYO9B_ENST00000594824.1_Missense_Mutation_p.F1517L|MYO9B_ENST00000397274.2_Missense_Mutation_p.F1517L NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1517 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 TGGACGAGTTCCTGCTCAACA 0.552000 20 53 1.15919e-05 1.30408e-05 1 1 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240504 39240504 + Missense_Mutation SNP A A G rs11655310 by1000genomes TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr17:39240504A>G ENST00000391417.4 + 1 46 c.46A>G c.(46-48)Agc>Ggc p.S16G NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.S16G(2) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 CCAGGGCTGCAGCCAAGACCT 0.607000 3 35 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49432198 49432198 + Missense_Mutation SNP G G C TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr12:49432198G>C ENST00000301067.7 - 34 8940 c.8941C>G c.(8941-8943)Ctg>Gtg p.L2981V NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCAGCTTCCAGGGCCAGAGGA 0.602000 4 61 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186136032 186136032 + Missense_Mutation SNP G G A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr1:186136032G>A ENST00000271588.4 + 100 15761 c.15532G>A c.(15532-15534)Gga>Aga p.G5178R HMCN1_ENST00000367492.2_Missense_Mutation_p.G5178R NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 5178 EGF-like 2; calcium-binding (Potential). response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GGTCCGTTGTGGAAGTGGCTT 0.453000 17 57 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39907713 39907717 + Frame_Shift_Del DEL AAATG AAATG - TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr1:39907713_39907717delAAATG ENST00000564288.1 + 75 19539_19543 c.18762_18766delAAATG c.(18760-18768)ttaafs p.LNE6254fs MACF1_ENST00000289893.4_Frame_Shift_Del_p.LNE4697fs|MACF1_ENST00000567887.1_Frame_Shift_Del_p.LNE6291fs|MACF1_ENST00000545844.1_Frame_Shift_Del_p.LNE4195fs|MACF1_ENST00000372915.3_Frame_Shift_Del_p.LNE6153fs|MACF1_ENST00000317713.7_Frame_Shift_Del_p.LNE4195fs|MACF1_ENST00000361689.2_Frame_Shift_Del_p.LNE4195fs|MACF1_ENST00000539005.1_Frame_Shift_Del_p.LNE4065fs Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6263 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AAGATCAGTTAAATGAAATGAAGGT 0.356 14 64 --- --- --- --- ANKRD36BP2 0 broad.mit.edu 37 2 89102271 89102274 + RNA DEL AAAC AAAC - rs5832743 TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr2:89102271_89102274delAAAC ENST00000393525.3 + 0 2745_2748 ATGATGTCTTAAACAAACAATCAG 0.328 3 6 --- --- --- --- NAALADL2 254827 broad.mit.edu 37 3 175165149 175165149 + Frame_Shift_Del DEL T T - TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr3:175165149delT ENST00000454872.1 + 6 1351 c.1223delT c.(1222-1224)ctfs p.L408fs NAALADL2_ENST00000473253.1_3'UTR NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 408 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) TCTCTAGAGCTTCCAAATAAT 0.368 2 4 --- --- --- --- CHD1 1105 broad.mit.edu 37 5 98205472 98205473 + Frame_Shift_Ins INS - - AT TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr5:98205472_98205473insAT ENST00000284049.3 - 29 4241_4242 c.4092_4093insAT c.(4090-4095)gaaagafs p.R1365fs CHD1_ENST00000511067.1_5'UTR NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1365 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) TCATCATCTTCATCAGACTTCT 0.317 18 22 --- --- --- --- AC005077.5 0 broad.mit.edu 37 7 75804673 75804673 + RNA DEL A A - TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr7:75804673delA ENST00000437494.1 + 0 57 atctcgaaccaaaaaaaaaag 0.542 2 4 --- --- --- --- AGAP11 119385 broad.mit.edu 37 10 88754812 88754813 + RNA INS - - ATA rs71019443 TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr10:88754812_88754813insATA ENST00000444431.1 + 0 335 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding AATTGATGATGataataatagt 0.292 5 3 --- --- --- --- HNRNPKP3 0 broad.mit.edu 37 11 43283606 43283606 + RNA DEL A A - TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr11:43283606delA ENST00000511537.1 - 0 1329 NR_033868.1 AAGCAAATGTAAAAAAAAAAA 0.388 5 9 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124750448 124750453 + In_Frame_Del DEL CGGAGT CGGAGT - rs55725290 TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr11:124750448_124750453delCGGAGT ENST00000397801.1 + 27 4285_4290 c.4093_4098delCGGAGT c.(4093-4098)del p.RS1367del ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 1367 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGgccggagccggagtcggagtcaga 0.660 2 4 --- --- --- --- RP11-19N8.2 0 broad.mit.edu 37 16 32989896 32989897 + RNA DEL TA TA - TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr16:32989896_32989897delTA ENST00000567619.1 - 0 499 TCCACTCCTGTATTCTCTCCAC 0.510 5 4 --- --- --- --- CBX3P2 0 broad.mit.edu 37 18 2652677 2652678 + RNA DEL AC AC - TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr18:2652677_2652678delAC ENST00000579647.1 - 0 919_920 NR_033754.2 CCTAGGTTTTACACACACACAC 0.342 2 4 --- --- --- --- MACF1 23499 broad.mit.edu 37 1 39907713 39907717 + Frame_Shift_Del DEL AAATG AAATG - TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr1:39907713_39907717delAAATG ENST00000564288.1 + 75 19539_19543 c.18762_18766delAAATG c.(18760-18768)ttaafs p.LNE6254fs MACF1_ENST00000545844.1_Frame_Shift_Del_p.LNE4195fs|MACF1_ENST00000361689.2_Frame_Shift_Del_p.LNE4195fs|MACF1_ENST00000539005.1_Frame_Shift_Del_p.LNE4065fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.LNE4697fs|MACF1_ENST00000317713.7_Frame_Shift_Del_p.LNE4195fs|MACF1_ENST00000372915.3_Frame_Shift_Del_p.LNE6153fs|MACF1_ENST00000567887.1_Frame_Shift_Del_p.LNE6291fs Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6263 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AAGATCAGTTAAATGAAATGAAGGT 0.356 14 64 --- --- --- --- NAALADL2 254827 broad.mit.edu 37 3 175165149 175165149 + Frame_Shift_Del DEL T T - TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr3:175165149delT ENST00000454872.1 + 6 1351 c.1223delT c.(1222-1224)ctfs p.L408fs NAALADL2_ENST00000473253.1_3'UTR NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 408 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) TCTCTAGAGCTTCCAAATAAT 0.368 2 4 --- --- --- --- CHD1 1105 broad.mit.edu 37 5 98205472 98205473 + Frame_Shift_Ins INS - - AT TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr5:98205472_98205473insAT ENST00000284049.3 - 29 4241_4242 c.4092_4093insAT c.(4090-4095)gaaagafs p.R1365fs CHD1_ENST00000511067.1_5'UTR NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1365 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) TCATCATCTTCATCAGACTTCT 0.317 18 22 --- --- --- --- AC005077.5 0 broad.mit.edu 37 7 75804673 75804673 + RNA DEL A A - TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr7:75804673delA ENST00000437494.1 + 0 57 atctcgaaccaaaaaaaaaag 0.542 2 4 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086237 20086237 + RNA DEL T T - TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr14:20086237delT ENST00000548261.1 + 0 51 GGTGTGTGTGTGGGGGGGTAT 0.388 7 8 --- --- --- --- CBX3P2 0 broad.mit.edu 37 18 2652677 2652678 + RNA DEL AC AC - TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr18:2652677_2652678delAC ENST00000579647.1 - 0 919_920 NR_033754.2 CCTAGGTTTTACACACACACAC 0.342 2 4 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21142454 21142455 + RNA INS - - C rs45603533 by1000genomes TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-11A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 3b3142ad-8a22-42b2-9ca4-06e81a9deaa7 g.chr20:21142454_21142455insC ENST00000591761.1 - 0 5142 RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA AAAAAAAAAAACCCCACCTAAT 0.376 6 8 --- --- --- ---