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 AFF2 2334 broad.mit.edu 37 X 148037698 148037698 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chrX:148037698G>A ENST00000370460.2 + 11 2602 c.2123G>A c.(2122-2124)cGg>cAg p.R708Q AFF2_ENST00000342251.3_Missense_Mutation_p.R675Q|AFF2_ENST00000370457.5_Missense_Mutation_p.R675Q|AFF2_ENST00000286437.5_Missense_Mutation_p.R349Q NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 708 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CCAAAGTCTCGGGAATTCATT 0.488000 258 143 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625961 29625961 + Missense_Mutation SNP C C A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr20:29625961C>A ENST00000278882.3 + 5 585 c.205C>A c.(205-207)Caa>Aaa p.Q69K FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K p.Q69K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACCAAGAGAACAATGGGAACC 0.333000 8 440 1.33834e-09 1.39963e-09 1 1 0 NBPF10 100132406 broad.mit.edu 37 1 145311839 145311839 + Missense_Mutation SNP A A T rs58277049 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:145311839A>T ENST00000369338.1 + 10 1278 c.1088A>T c.(1087-1089)cAg>cTg p.Q363L RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000342960.5_Intron A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 636 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CAGGACTCACAGGATAGATGT 0.473000 5 128 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 22 441 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38337656 38337656 + Silent SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr5:38337656C>T ENST00000322350.5 + 2 478 c.132C>T c.(130-132)ggC>ggT p.G44G EGFLAM_ENST00000354891.3_Silent_p.G44G NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 44 Fibronectin type-III 1. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TCAAGCTGGGCGCATTGAACT 0.512000 13 50 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 7 201 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 26 456 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195698264 195698264 + RNA SNP T T C rs12485654 by1000genomes TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr3:195698264T>C ENST00000427841.1 - 0 1608 NR_003264.2 TTTGTCAACATTCGTGACAGA 0.413000 6 258 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 5 144 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137674564 137674564 + Missense_Mutation SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr9:137674564C>T ENST00000371817.3 + 29 2896 c.2482C>T c.(2482-2484)Cgg>Tgg p.R828W NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 828 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CAAGGGTGATCGGGTGAGCAT 0.587000 213 516 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6943188 6943188 + Missense_Mutation SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr18:6943188C>T ENST00000389658.3 - 62 9151 c.9058G>A c.(9058-9060)Ggc>Agc p.G3020S NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 3020 Laminin G-like 5. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCAGGATAGCCACCAACATAA 0.502000 80 169 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72413896 72413896 + Missense_Mutation SNP A A G TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr7:72413896A>G ENST00000395270.1 + 14 3610 c.2569A>G c.(2569-2571)Acc>Gcc p.T857A POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1122 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore p.T857A(8) NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) AGGCTCCAGCACCACCACCGG 0.637000 6 159 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 10 388 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369667 20369667 + RNA SNP G G T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr19:20369667G>T ENST00000593655.1 - 0 199 CCACTCTGCTGATTTTGAAAC 0.403000 133 288 6.42063e-57 7.15143e-57 1 1 0 MUC4 4585 broad.mit.edu 37 3 195509717 195509717 + Missense_Mutation SNP G G T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr3:195509717G>T ENST00000463781.3 - 2 9193 c.8734C>A c.(8734-8736)Cct>Act p.P2912T MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2912T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 662 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACAGGAAGAGGCGTGGTGTCA 0.587000 3 10 0.217242 0.217242 1 1 0 NCOR1P1 0 broad.mit.edu 37 20 26084261 26084261 + RNA SNP A A G rs61752354 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr20:26084261A>G ENST00000478176.1 - 0 196 NR_003678.1 CGGTTGCCCCAGAATTGGAGA 0.388000 17 241 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228479741 228479741 + Silent SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:228479741C>T ENST00000570156.2 + 44 11843 c.11769C>T c.(11767-11769)taC>taT p.Y3923Y OBSCN_ENST00000366707.4_Silent_p.Y613Y|OBSCN_ENST00000284548.11_Silent_p.Y3494Y|OBSCN_ENST00000359599.6_Silent_p.Y2341Y|OBSCN_ENST00000422127.1_Silent_p.Y3494Y|OBSCN_ENST00000366709.4_Silent_p.Y613Y NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2961 Ig-like 40. 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 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) GGGACAGATACATCCTGAGGC 0.632000 34 424 0 0 1 0 0 SLC35G6 643664 broad.mit.edu 37 17 7385463 7385463 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr17:7385463G>A ENST00000412468.2 + 2 275 c.160G>A c.(160-162)Gtg>Atg p.V54M ZBTB4_ENST00000311403.4_Intron NM_001102614.1 NP_001096084.1 P0C7Q6 AMCL3_HUMAN solute carrier family 35, member G6 54 DUF6 1. integral to membrane TGCTGGCTTCGTGGGCCCCCT 0.647000 12 408 0 0 1 0 0 MT-ND6 4541 broad.mit.edu 37 MT 14205 14205 + Missense_Mutation SNP C C A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chrM:14205C>A ENST00000361681.2 - 1 468 c.469G>T c.(469-471)Ggt>Tgt p.G157C mitochondrially encoded NADH dehydrogenase 6 breast(1)|endometrium(10)|kidney(17)|urinary_tract(1) 29 CAATGTTCAACCAGTAACCAC 0.423000 3 20 6.4e-05 6.64242e-05 1 1 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 7 335 0 0 1 0 0 PLCD3 113026 broad.mit.edu 37 17 43192471 43192471 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr17:43192471G>A ENST00000322765.5 - 11 1812 c.1699C>T c.(1699-1701)Cgg>Tgg p.R567W PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 568 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) CCTGCCTCCCGAATGAGTTTC 0.657000 3 31 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C rs121912666 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr17:7578190T>C ENST00000420246.2 - 6 791 c.659A>G c.(658-660)tAt>tGt p.Y220C TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 220 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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) AGGCGGCTCATAGGGCACCAC 0.557000 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) 57 70 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 13 358 0 0 1 0 0 B3GALT2 8707 broad.mit.edu 37 1 193150555 193150555 + Missense_Mutation SNP A A C TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:193150555A>C ENST00000367434.4 - 2 893 c.138T>G c.(136-138)caT>caG p.H46Q CDC73_ENST00000367435.3_Intron NM_003783.3 NP_003774.1 O43825 B3GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 46 protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2) 16 GCAGCCAGTCATGATGATTGA 0.428000 25 387 0 0 1 0 0 NUP85 79902 broad.mit.edu 37 17 73229049 73229049 + Silent SNP G G A rs150650595 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr17:73229049G>A ENST00000447371.2 + 14 1420 c.996G>A c.(994-996)acG>acA p.T332T NUP85_ENST00000540768.1_Silent_p.T103T|NUP85_ENST00000541827.1_Silent_p.T454T|NUP85_ENST00000245544.4_Silent_p.T500T|NUP85_ENST00000579324.1_Silent_p.T388T|NUP85_ENST00000579298.1_Silent_p.T455T Q9BW27 NUP85_HUMAN nucleoporin 85kDa 500 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) CCTTTGCCACGCTCGTGTCAG 0.602000 7 424 0 0 1 0 0 TMEM67 91147 broad.mit.edu 37 8 94767364 94767364 + Splice_Site SNP A A G TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr8:94767364A>G ENST00000453321.3 + 1 280 c.223_splice c.e1+1 p.R74_splice TMEM67_ENST00000409623.3_5'UTR NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 74 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) AAGATGCCCGAGGTAAGACGG 0.552000 286 338 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45838383 45838383 + Nonsense_Mutation SNP C C T rs143493112 byFrequency TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr21:45838383C>T ENST00000397928.1 + 22 3851 c.3406C>T c.(3406-3408)Cga>Tga p.R1136* TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Nonsense_Mutation_p.R1136*|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.R1136*|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.R1116* NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1136 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CCTCCAGAACCGACAGTTCCA 0.607000 266 639 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66190209 66190209 + Missense_Mutation SNP A A T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr11:66190209A>T ENST00000311034.2 + 4 671 c.495A>T c.(493-495)aaA>aaT p.K165N NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 165 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CAGGCAACAAACTCGTGCTTA 0.552000 160 320 0 0 1 0 0 NKD1 85407 broad.mit.edu 37 16 50666302 50666302 + Missense_Mutation SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr16:50666302C>T ENST00000268459.3 + 9 1030 c.806C>T c.(805-807)aCg>aTg p.T269M NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 269 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) GAAAACTACACGTCCCAATTT 0.597000 78 139 0 0 1 0 0 RSPO1 284654 broad.mit.edu 37 1 38079563 38079563 + Splice_Site SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:38079563C>T ENST00000356545.2 - 7 1225 c.436_splice c.e7-1 p.A146_splice RSPO1_ENST00000401069.1_Splice_Site_p.A146_splice|RSPO1_ENST00000373059.1_Splice_Site_p.A119_splice|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401068.1_Splice_Site_p.A146_splice NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 146 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TTTCACATTGCGCTGGCAGGA 0.617000 116 216 0 0 1 0 0 ZNF662 389114 broad.mit.edu 37 3 42950359 42950359 + Missense_Mutation SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr3:42950359C>T ENST00000541208.1 + 3 478 c.109C>T c.(109-111)Cgg>Tgg p.R37W ZNF662_ENST00000422021.1_Missense_Mutation_p.R37W|ZNF662_ENST00000440367.2_Missense_Mutation_p.R37W|KRBOX1_ENST00000426937.1_5'UTR|ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000328199.6_Missense_Mutation_p.R97W Q6ZS27 ZN662_HUMAN zinc finger protein 662 37 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) CTCGGTTCCTCGGGGAGCTCT 0.542000 166 362 0 0 1 0 0 OSBPL6 114880 broad.mit.edu 37 2 179193055 179193055 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr2:179193055G>A ENST00000190611.4 + 5 644 c.268G>A c.(268-270)Gag>Aag p.E90K OSBPL6_ENST00000359685.3_Missense_Mutation_p.E90K|OSBPL6_ENST00000315022.2_Missense_Mutation_p.E69K|OSBPL6_ENST00000409631.1_Missense_Mutation_p.E90K|OSBPL6_ENST00000409045.3_Missense_Mutation_p.E90K|OSBPL6_ENST00000392505.2_Missense_Mutation_p.E90K|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000357080.4_Missense_Mutation_p.E90K NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 90 PH. lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) AGACAAACATGAGGGCTTTAT 0.378000 28 401 0 0 1 0 0 GOLGA6B 55889 broad.mit.edu 37 15 72954797 72954797 + Missense_Mutation SNP T T C TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr15:72954797T>C ENST00000421285.3 + 11 1052 c.1052T>C c.(1051-1053)gTg>gCg p.V351A NM_018652.4 NP_061122.4 A6NDN3 GOG6B_HUMAN golgin A6 family, member B 351 p.V351A(4) NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 16 GAGCAGGAGGTGCAGAGAGTG 0.562000 8 228 0 0 1 0 0 HLX 3142 broad.mit.edu 37 1 221057767 221057767 + Silent SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:221057767G>A ENST00000366903.6 + 4 2689 c.1188G>A c.(1186-1188)ggG>ggA p.G396G HLX_ENST00000549319.1_Silent_p.G182G NM_021958.3 NP_068777.1 Q14774 HLX_HUMAN H2.0-like homeobox 396 Ser-rich. cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(131;0.00914) GGACTGAGGGGAGTGAGCGTT 0.652000 67 149 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180039610 180039610 + Splice_Site SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr5:180039610G>A ENST00000261937.6 - 26 3511 c.3431_splice c.e26-1 p.R1145_splice FLT4_ENST00000502649.1_Splice_Site_p.R1145_splice|FLT4_ENST00000393347.3_Splice_Site_p.R1145_splice NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 1145 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) ATGATGCGGCGTCTGCAGGAT 0.667000 18 306 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr17:21730847G>T ENST00000584755.1 + 2 546 c.149G>T c.(148-150)cGg>cTg p.R50L UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCGGGAAGATGGC 0.522000 5 147 0.184627 0.185985 1 1 0 GRIN2D 2906 broad.mit.edu 37 19 48918276 48918276 + Missense_Mutation SNP G G C TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr19:48918276G>C ENST00000263269.3 + 6 1656 c.1568G>C c.(1567-1569)gGc>gCc p.G523A NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 523 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) GTCTGGAACGGCATGATCGGG 0.637000 98 236 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815014 106815014 + Nonsense_Mutation SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr8:106815014C>T ENST00000407775.2 + 8 2954 c.2704C>T c.(2704-2706)Cga>Tga p.R902* RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.R633*|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.R770*|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.R770*|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 902 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.R902*(1) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGAAAGCGAACGAAACAGCCC 0.458000 41 108 0 0 1 0 0 MSR1 0 broad.mit.edu 37 8 15967630 15967630 + Silent SNP T T C TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr8:15967630T>C ENST00000350896.3 - 9 1328 c.1131A>G c.(1129-1131)tcA>tcG p.S377S MSR1_ENST00000262101.5_Silent_p.S440S|MSR1_ENST00000445506.2_Silent_p.S458S|MSR1_ENST00000355282.2_Silent_p.S377S NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 440 SRCR. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CTTCAGAATGTGAACAGGCTC 0.378000 179 161 0 0 1 0 0 ZNF492 57615 broad.mit.edu 37 19 22847686 22847686 + Silent SNP G G T rs142590445 by1000genomes TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr19:22847686G>T ENST00000456783.2 + 4 1459 c.1215G>T c.(1213-1215)tcG>tcT p.S405S NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) TTAACCTATCGTCACAACTTA 0.388000 33 293 2.61675e-31 2.89109e-31 1 1 0 RUNX2 860 broad.mit.edu 37 6 45390469 45390469 + Silent SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr6:45390469G>A ENST00000371438.1 + 2 556 c.198G>A c.(196-198)caG>caA p.Q66Q RUNX2_ENST00000352853.5_Silent_p.Q134Q|RUNX2_ENST00000359524.5_Silent_p.Q52Q|RUNX2_ENST00000541979.1_Silent_p.Q134Q|RUNX2_ENST00000465038.2_Silent_p.Q66Q|RUNX2_ENST00000371436.6_Silent_p.Q66Q|RUNX2_ENST00000576263.1_Silent_p.Q66Q|RUNX2_ENST00000371432.3_Silent_p.Q52Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 66 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcaacagcagcagcagc 0.731000 6 241 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33962623 33962623 + Missense_Mutation SNP T T G TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr15:33962623T>G ENST00000389232.4 + 38 5796 c.5726T>G c.(5725-5727)gTt>gGt p.V1909G RYR3_ENST00000415757.3_Missense_Mutation_p.V1909G NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1909 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.V1909G(1) 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) TTGCTAGGGGTTCCTTTggaa 0.473000 25 116 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25161457 25161457 + RNA SNP G G A rs1851732 by1000genomes TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr13:25161457G>A ENST00000453498.1 + 0 981 TTATTTATTCGATTCGTGGTA 0.378000 23 202 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846020 18846020 + RNA SNP T T C rs1064861 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr22:18846020T>C ENST00000412938.1 + 0 3378 TCACTGACGTTGAAGGCTGCC 0.637000 7 143 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110131289 110131289 + Silent SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr8:110131289C>T ENST00000518632.1 + 3 1153 c.802C>T c.(802-804)Ctg>Ttg p.L268L TRHR_ENST00000311762.2_Silent_p.L268L P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 268 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) CACCAAGATGCTGGCAGTGGT 0.418000 472 1478 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811108 140811108 + Silent SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr4:140811108C>T ENST00000509479.2 - 2 2338 c.1482G>A c.(1480-1482)caG>caA p.Q494Q MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 494 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.537000 10 281 0 0 1 0 0 FPGT-TNNI3K 0 broad.mit.edu 37 1 74715181 74715181 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:74715181G>A ENST00000370895.1 + 5 526 c.491G>A c.(490-492)cGc>cAc p.R164H TNNI3K_ENST00000370891.2_Missense_Mutation_p.R164H|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.R164H|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.R164H|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R63H Q59H18 TNI3K_HUMAN 63 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding TTAAATTACCGCACTGAAAAT 0.333000 86 213 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169644398 169644398 + Silent SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr3:169644398C>T ENST00000428432.2 + 6 737 c.348C>T c.(346-348)ccC>ccT p.P116P SAMD7_ENST00000335556.3_Silent_p.P116P NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 116 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) AAATTAATCCCAAGGGACTAG 0.478000 135 304 0 0 1 0 0 KLHL38 340359 broad.mit.edu 37 8 124664206 124664206 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr8:124664206G>A ENST00000325995.7 - 1 984 c.961C>T c.(961-963)Cgg>Tgg p.R321W CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 321 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 TTGTACAGCCGTGTCGGGAGT 0.592000 112 320 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151160955 151160955 + Missense_Mutation SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr3:151160955C>T ENST00000282466.3 - 5 5779 c.5780G>A c.(5779-5781)cGa>cAa p.R1927Q NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1927 Ig-like C2-type 5. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TACTACTCTTCGCTCCGAACC 0.433000 232 471 0 0 1 0 0 HTR2A 3356 broad.mit.edu 37 13 47466615 47466615 + Missense_Mutation SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr13:47466615C>T ENST00000378688.4 - 2 654 c.523G>A c.(523-525)Gtc>Atc p.V175I HTR2A_ENST00000543956.1_Missense_Mutation_p.V91I|HTR2A_ENST00000542664.1_Missense_Mutation_p.V175I P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 175 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TGGATGGCGACGTAGCGGTCC 0.537000 479 952 0 0 1 0 0 SOHLH1 402381 broad.mit.edu 37 9 138590310 138590310 + Silent SNP C C T rs147567724 byFrequency TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr9:138590310C>T ENST00000298466.5 - 3 270 c.210G>A c.(208-210)tcG>tcA p.S70S SOHLH1_ENST00000425225.1_Silent_p.S70S NM_001012415.2 NP_001012415.2 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic helix-loop-helix 1 70 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1) 12 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) CACAGCTCAACGACATCCGCT 0.622000 9 522 0 0 1 0 0 ACTC1 70 broad.mit.edu 37 15 35084689 35084689 + Missense_Mutation SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr15:35084689C>T ENST00000290378.4 - 4 1191 c.536G>A c.(535-537)cGt>cAt p.R179H ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 179 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) CAGATCCAGACGCATGATGGC 0.547000 112 343 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168489 25168489 + RNA SNP G G A rs142860004 by1000genomes TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr13:25168489G>A ENST00000453498.1 + 0 1161 TGAAAGTGCAGTTTTTCTCTT 0.363000 5 149 0 0 1 0 0 GOLGA8DP 0 broad.mit.edu 37 15 22709637 22709637 + RNA SNP T T G rs140467724 by1000genomes TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr15:22709637T>G ENST00000314246.8 - 0 1147 CCCATCTGGTTTTTGAGTTTG 0.547000 42 1109 0 0 1 0 0 NCOR1P1 0 broad.mit.edu 37 20 26084262 26084262 + RNA SNP G G A rs61751718 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr20:26084262G>A ENST00000478176.1 - 0 195 NR_003678.1 GGTTGCCCCAGAATTGGAGAG 0.388000 17 238 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46925862 46925862 + Missense_Mutation SNP C C A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr21:46925862C>A ENST00000359759.4 + 36 4464 c.4443C>A c.(4441-4443)aaC>aaA p.N1481K SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Missense_Mutation_p.N1066K|COL18A1_ENST00000355480.5_Missense_Mutation_p.N1246K P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1481 Nonhelical region 11 (NC11). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GCGTGCAGAACGGGTTCCGGA 0.667000 116 334 2.12763e-61 2.38922e-61 1 1 0 ZIM2 23619 broad.mit.edu 37 19 57286068 57286068 + Silent SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr19:57286068G>A ENST00000391708.3 - 12 2114 c.1572C>T c.(1570-1572)tgC>tgT p.C524C AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000221722.5_Silent_p.C524C|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Silent_p.C524C|ZIM2_ENST00000599935.1_Silent_p.C524C|ZIM2_ENST00000593711.1_Silent_p.C524C NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 p.C524C(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) AACAGTGATCGCACTCAACAG 0.458000 63 188 0 0 1 0 0 KRTAP9-9 81870 broad.mit.edu 37 17 39411940 39411940 + Silent SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr17:39411940C>T ENST00000394008.1 + 1 305 c.303C>T c.(301-303)ggC>ggT p.G101G NM_030975.2 NP_112237.2 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 101 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCAGCTGTGGCCAGAGCAGCT 0.617000 10 369 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 4 106 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296403 145296403 + Silent SNP C C T rs4996269 by1000genomes TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:145296403C>T ENST00000342960.5 + 3 360 c.325C>T c.(325-327)Cta>Tta p.L109L RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 109 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GCTGACCCAGCTAAGGGAGAA 0.517000 35 1779 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167095421 167095421 + Silent SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:167095421C>T ENST00000361200.2 + 6 1219 c.1053C>T c.(1051-1053)taC>taT p.Y351Y DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Silent_p.Y351Y|DUSP27_ENST00000271385.5_Silent_p.Y351Y Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 351 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity p.Y351Y(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 AGAAACTGTACGAGCAGTGGA 0.662000 12 37 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63526217 63526217 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr18:63526217G>A ENST00000536984.2 + 9 2123 c.1429G>A c.(1429-1431)Gat>Aat p.D477N CDH7_ENST00000323011.3_Missense_Mutation_p.D477N|CDH7_ENST00000397968.2_Missense_Mutation_p.D477N Q9ULB5 CADH7_HUMAN cadherin 7, type 2 477 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) TGACATCAATGATAACGCCCC 0.428000 6 191 0 0 1 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4458561 4458561 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr17:4458561G>A ENST00000254718.4 - 1 365 c.59C>T c.(58-60)gCc>gTc p.A20V MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A20V Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 20 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 GGCAGGCCGGGCGCCACTCTG 0.637000 34 24 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5303737 5303737 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr5:5303737G>A ENST00000274181.7 + 20 3182 c.3044G>A c.(3043-3045)aGc>aAc p.S1015N NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 1015 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GCCTGTAAGAGCACCAACCCC 0.627000 10 245 0 0 1 0 0 RIMS1 0 broad.mit.edu 37 6 73043409 73043409 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr6:73043409G>A ENST00000264839.7 + 25 3784 c.3784G>A c.(3784-3786)Ggc>Agc p.G1262S RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.G733S|RIMS1_ENST00000491071.2_Missense_Mutation_p.G1236S|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000348717.5_Missense_Mutation_p.G1196S|RIMS1_ENST00000521978.1_Missense_Mutation_p.G1413S|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000517960.1_Missense_Mutation_p.G1196S|RIMS1_ENST00000538414.1_Missense_Mutation_p.G219S Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1413 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) GCATAATGACGGCAGCCAGTC 0.522000 17 21 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 43 52 3.77016e-25 4.0993e-25 1 1 0 NELFA 7469 broad.mit.edu 37 4 1985370 1985370 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr4:1985370G>A ENST00000382882.3 - 10 2505 c.1388C>T c.(1387-1389)aCg>aTg p.T463M NELFA_ENST00000411638.1_Missense_Mutation_p.T452M|NELFA_ENST00000542778.1_Missense_Mutation_p.T317M NM_005663.4 NP_005654.3 negative elongation factor complex member A CTCGGGCCGCGTGACTTTGTT 0.672000 39 272 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 45 374 0 0 1 0 0 CDK11A 728642 broad.mit.edu 37 1 1654058 1654058 + Translation_Start_Site SNP C C T rs61777495 by1000genomes TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:1654058C>T ENST00000356200.3 - 0 212 CDK11A_ENST00000378635.3_Intron|CDK11A_ENST00000357760.2_Intron|CDK11A_ENST00000378633.1_Intron|CDK11A_ENST00000378638.2_De_novo_Start_OutOfFrame|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Intron|CDK11A_ENST00000404249.3_Intron cyclin-dependent kinase 11A central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1) 18 AAGAACTTCACCGAAGAAGCG 0.338000 6 175 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79746678 79746678 + Missense_Mutation SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr14:79746678C>T ENST00000281127.7 + 1 923 c.44C>T c.(43-45)cCg>cTg p.P15L NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.P15L|NRXN3_ENST00000557594.1_Missense_Mutation_p.P15L NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 15 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CCTCGCCGGCCGGCCTGGACG 0.572000 46 897 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62838994 62838994 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr20:62838994G>A ENST00000536311.1 + 7 809 c.445G>A c.(445-447)Gcc>Acc p.A149T MYT1_ENST00000328439.1_Missense_Mutation_p.A149T|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 149 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CATCGGCAGCGCCACTGCCTC 0.552000 199 619 0 0 1 0 0 C17orf97 400566 broad.mit.edu 37 17 263345 263345 + Silent SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr17:263345C>T ENST00000360127.6 + 2 727 c.711C>T c.(709-711)ccC>ccT p.P237P AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 267 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 GCTTCCACCCCGACCCCGAGG 0.726000 5 105 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207174767 207174767 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr2:207174767G>A ENST00000374423.3 + 5 5901 c.5515G>A c.(5515-5517)Gat>Aat p.D1839N NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1839 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AATGAGAGAAGATGACATAAA 0.413000 80 154 0 0 1 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48608775 48608775 + Missense_Mutation SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr17:48608775C>T ENST00000323776.5 + 19 3103 c.2941C>T c.(2941-2943)Cgc>Tgc p.R981C MYCBPAP_ENST00000436259.2_3'UTR NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 944 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) GGAGGCTTTGCGCCTCTGCAG 0.522000 3 73 0 0 1 0 0 CPN2 1370 broad.mit.edu 37 3 194062372 194062372 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr3:194062372G>A ENST00000323830.3 - 2 1149 c.1060C>T c.(1060-1062)Cca>Tca p.P354S CPN2_ENST00000429275.1_Missense_Mutation_p.P354S NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 354 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) AAGAGGGCTGGGTGCAGCGCC 0.562000 107 208 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 9 387 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_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 11 51 0 0 1 0 0 ZFR 51663 broad.mit.edu 37 5 32364367 32364367 + Silent SNP T T C TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr5:32364367T>C ENST00000265069.8 - 18 2952 c.2850A>G c.(2848-2850)ctA>ctG p.L950L ZFR_ENST00000510369.1_5'UTR NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 950 DZF. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) CTTTCTCTACTAGTAACTCCA 0.343000 139 225 0 0 1 0 0 TCTE1 202500 broad.mit.edu 37 6 44254103 44254103 + Silent SNP G G A rs146051785 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr6:44254103G>A ENST00000371505.4 - 3 566 c.444C>T c.(442-444)ggC>ggT p.G148G TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'UTR NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 148 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCCAGCTGCCGCCATGGTGGG 0.607000 221 290 0 0 1 0 0 ARSI 340075 broad.mit.edu 37 5 149677192 149677192 + Missense_Mutation SNP C C T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr5:149677192C>T ENST00000328668.7 - 2 1874 c.1295G>A c.(1294-1296)gGc>gAc p.G432D NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 432 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATCGCCATAGCCGGGGTCTCC 0.657000 138 234 0 0 1 0 0 FBXW10 10517 broad.mit.edu 37 17 18668178 18668178 + Splice_Site SNP T T C TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr17:18668178T>C ENST00000308799.4 + 7 1861 c.e7+2 FBXW10_ENST00000395665.4_Splice_Site|FBXW10_ENST00000301938.4_Splice_Site|FBXW10_ENST00000395667.1_Splice_Site Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 AGGTAAAAGGTGAGAAAGAAG 0.443000 104 111 0 0 1 0 0 CXorf21 80231 broad.mit.edu 37 X 30577625 30577625 + Missense_Mutation SNP A A C TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chrX:30577625A>C ENST00000378962.3 - 3 1170 c.848T>G c.(847-849)aTt>aGt p.I283S NM_025159.2 NP_079435.1 Q9HAI6 CX021_HUMAN chromosome X open reading frame 21 283 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 AATTTCAGTAATTTCAGTTGA 0.383000 5 205 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 8 311 0 0 1 0 0 TMEM82 388595 broad.mit.edu 37 1 16069389 16069389 + Missense_Mutation SNP G G A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:16069389G>A ENST00000375782.1 + 2 286 c.148G>A c.(148-150)Gtg>Atg p.V50M RP11-169K16.4_ENST00000418525.1_RNA|TMEM82_ENST00000465575.1_Intron NM_001013641.1 NP_001013663.1 A0PJX8 TMM82_HUMAN transmembrane protein 82 50 Leu-rich. integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1) 13 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTACTTCTTCGTGGGCTGTGC 0.662000 13 209 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4772583 4772585 + In_Frame_Del DEL CCA CCA - rs141981296 byFrequency TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:4772583_4772585delCCA ENST00000378191.4 + 2 1034_1036 c.653_655delCCA c.(652-657)gcc>g p.AT218del AJAP1_ENST00000378190.3_In_Frame_Del_p.AT218del NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 218 Thr-rich. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane p.T225_A226insT(1) endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) ACTGTGGccgccaccaccaccac 0.635 9 182 --- --- --- --- DNAJC11 55735 broad.mit.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:6727803_6727804delTC ENST00000377577.5 - 4 466_467 c.343_344delGA c.(343-345)afs p.E116fs DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 116 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCTCTCTTCTCTCTCTCTC 0.505 10 265 --- --- --- --- VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 8 992 --- --- --- --- SPEN 23013 broad.mit.edu 37 1 16255142 16255143 + Frame_Shift_Del DEL GA GA - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:16255142_16255143delGA ENST00000375759.3 + 11 2611_2612 c.2407_2408delGA c.(2407-2409)gfs p.E803fs NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 803 Arg-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GGAGAGAGTGGAGAGAGAGAGA 0.431 10 530 --- --- --- --- CROCCP2 0 broad.mit.edu 37 1 16953827 16953828 + RNA INS - - C rs57007114 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:16953827_16953828insC ENST00000412962.1 - 0 477 TCACTTTCCTGCCCGAACCTCC 0.609 8 282 --- --- --- --- PADI6 353238 broad.mit.edu 37 1 17720687 17720687 + RNA DEL G G - rs67226027 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:17720687delG ENST00000434762.2 + 0 1233 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TGGCCTCTGAGGGGGGAGGGG 0.587 35 44 --- --- --- --- TCEB3 6924 broad.mit.edu 37 1 24078404 24078404 + Frame_Shift_Del DEL A A - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:24078404delA ENST00000418390.2 + 4 1658 c.1387delA c.(1387-1389)aafs p.K464fs NM_003198.2 NP_003189.2 Q14241 ELOA1_HUMAN transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) 464 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding p.N439fs*19(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) TAAAGGACTTAAAAAAAATGA 0.413 OREG0013232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 879 --- --- --- --- AHDC1 27245 broad.mit.edu 37 1 27875353 27875355 + In_Frame_Del DEL AGG AGG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:27875353_27875355delAGG ENST00000374011.2 - 6 4240_4242 c.3272_3274delCCT c.(3271-3276)ttc>t p.SF1091del AHDC1_ENST00000247087.5_In_Frame_Del_p.SF1091del|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1091 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GAGGGCTGGAaggaggaggagga 0.665 7 245 --- --- --- --- RP11-244H3.1 0 broad.mit.edu 37 1 35441528 35441529 + RNA DEL TG TG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:35441528_35441529delTG ENST00000417456.1 - 0 1590_1591 Cgtgtgtgtatgtgtgtgtgtg 0.396 2 4 --- --- --- --- ZMYM4 9202 broad.mit.edu 37 1 35846959 35846960 + Frame_Shift_Ins INS - - A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:35846959_35846960insA ENST00000314607.6 + 8 1361_1362 c.1281_1282insA c.(1279-1284)ctaaaafs p.LK427fs ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.LK427fs NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 427 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CATATGAACTGAAAAAAAAACC 0.342 8 417 --- --- --- --- EIF2B3 8891 broad.mit.edu 37 1 45407182 45407182 + Frame_Shift_Del DEL T T - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:45407182delT ENST00000360403.2 - 4 576 c.450delA c.(448-450)aafs p.K150fs EIF2B3_ENST00000480675.1_5'UTR|EIF2B3_ENST00000372183.3_Frame_Shift_Del_p.K150fs NM_001261418.1|NM_020365.4 NP_001248347.1|NP_065098.1 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 150 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 17 Acute lymphoblastic leukemia(166;0.155) CCTTACCTGCTTTTTTTTTCC 0.358 12 581 --- --- --- --- CCDC18 343099 broad.mit.edu 37 1 93667515 93667516 + Frame_Shift_Ins INS - - A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:93667515_93667516insA ENST00000343253.7 + 7 1267_1268 c.765_766insA c.(763-768)taaaaafs p.*K255fs CCDC18_ENST00000557479.1_Frame_Shift_Ins_p.*K373fs|CCDC18_ENST00000401026.3_Frame_Shift_Ins_p.*K255fs|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_Frame_Shift_Ins_p.*K54fs Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 255 p.V377fs*15(1) breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TCCAACAATATAAAAAAAAAGT 0.317 8 182 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 16 95 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:121116645delT ENST00000437515.1 - 0 329 CAAGCCCCCCTTTAAAAAAAA 0.393 24 217 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121137698 121137699 + RNA INS - - TT rs57730437 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:121137698_121137699insTT ENST00000437515.1 - 0 329 CTACTTACATCTTTTTGTCTTT 0.441 10 179 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 by1000genomes TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 15 81 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142716575 142716578 + RNA DEL AAAC AAAC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:142716575_142716578delAAAC ENST00000595144.1 - 0 418 catctcagaaaaacaaacaaacaa 0.422 7 390 --- --- --- --- RP11-435B5.5 0 broad.mit.edu 37 1 143391935 143391936 + RNA INS - - TG TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:143391935_143391936insTG ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA ATATATATATATAAAGAGATTG 0.252 14 36 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145109259 145109260 + RNA INS - - A rs61810755 by1000genomes TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:145109259_145109260insA ENST00000453618.1 + 0 512 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding cactccagcccgggggcagagc 0.480 2 4 --- --- --- --- ADAMTSL4 54507 broad.mit.edu 37 1 150530506 150530506 + Frame_Shift_Del DEL G G - rs149280379 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:150530506delG ENST00000271643.4 + 14 2499 c.2263delG c.(2263-2265)ggfs p.G758fs ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 758 TSP type-1 2. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 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;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCAGGAATTTGGGGGGGGTGG 0.692 7 753 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - rs140875805 byFrequency TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:152324558_152324559delTG ENST00000388718.5 - 3 5775_5776 c.5703_5704delCA c.(5701-5706)cagcfs p.HS1901fs FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1901 calcium ion binding|structural molecule activity p.H1901fs*30(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTTGGCTGTGTGTGTGTC 0.515 7 657 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 10 423 --- --- --- --- GPATCH4 54865 broad.mit.edu 37 1 156565503 156565504 + Frame_Shift_Ins INS - - T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:156565503_156565504insT ENST00000368232.4 - 8 746_747 c.614_615insA c.(613-615)aaafs p.K205fs GPATCH4_ENST00000438976.2_Frame_Shift_Ins_p.K210fs|GPATCH4_ENST00000497287.1_5'UTR NM_015590.3|NM_182679.2 NP_056405.2|NP_872620.1 Q5T3I0 GPTC4_HUMAN G patch domain containing 4 205 intracellular nucleic acid binding autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1) 17 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTTTCTTTTTCTTTTTTTTGGG 0.535 10 851 --- --- --- --- SMG7 9887 broad.mit.edu 37 1 183515266 183515267 + Frame_Shift_Ins INS - - A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:183515266_183515267insA ENST00000367537.3 + 18 2680_2681 c.2485_2486insA c.(2485-2487)aaafs p.K829fs SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 846 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding p.?(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GCAGCCTCTAGAAAAAAAAATG 0.450 10 422 --- --- --- --- PPP1R12B 4660 broad.mit.edu 37 1 202407189 202407190 + Frame_Shift_Ins INS - - T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:202407189_202407190insT ENST00000480184.1 + 10 1627_1628 c.1495_1496insT c.(1495-1497)tttfs p.F499fs PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000406302.3_Intron NM_001167857.1 NP_001161329.1 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B 499 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) TTCCAAGGCAGTTTTTTTTTTC 0.391 16 245 --- --- --- --- RHOU 58480 broad.mit.edu 37 1 228879333 228879333 + Frame_Shift_Del DEL A A - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:228879333delA ENST00000366691.3 + 3 1289 c.623delA c.(622-624)cafs p.Q208fs NM_021205.5 NP_067028.1 Q7L0Q8 RHOU_HUMAN ras homolog family member U 208 regulation of small GTPase mediated signal transduction cell projection|cytosol|focal adhesion|Golgi membrane|podosome GTP binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 13 Breast(184;0.162) Prostate(94;0.183) GCCTTGACTCAAAAAAACCTC 0.493 7 739 --- --- --- --- OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG TGCTGCG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr1:248616705_248616711delTGCTGCG ENST00000342927.3 + 1 629_635 c.607_613delTGCTGCG c.(607-615)tgfs p.CCV203fs NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGTATGCCTGCTGCGTGCTGATGCT 0.527 13 362 --- --- --- --- PUM2 23369 broad.mit.edu 37 2 20482977 20482979 + In_Frame_Del DEL GCT GCT - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr2:20482977_20482979delGCT ENST00000361078.2 - 11 1471_1473 c.1449_1451delAGC c.(1447-1452)gct>gc p.AA483del PUM2_ENST00000319801.5_In_Frame_Del_p.AA483del|PUM2_ENST00000338086.5_In_Frame_Del_p.AA483del|PUM2_ENST00000536417.1_In_Frame_Del_p.AA427del|PUM2_ENST00000403432.1_In_Frame_Del_p.AA483del Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 483 Ala-rich. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTTCCTCCAGCTGCTGCTGCTG 0.424 7 476 --- --- --- --- APOB 338 broad.mit.edu 37 2 21247750 21247751 + Splice_Site INS - - A rs35442885 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr2:21247750_21247751insA ENST00000399256.4 - 17 2421 c.e17-2 APOB_ENST00000233242.1_Intron P04114 APOB_HUMAN apolipoprotein B cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTGGGCGATCTAAAAAAAAACC 0.530 9 318 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 25966873 25966873 + Frame_Shift_Del DEL G G - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr2:25966873delG ENST00000435504.4 - 13 2626 c.2333delC c.(2332-2334)cafs p.P778fs ASXL2_ENST00000272341.4_Frame_Shift_Del_p.P518fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.P518fs|ASXL2_ENST00000336112.4_Frame_Shift_Del_p.P750fs Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 778 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGAGGCACTGGGGGGGTTTG 0.557 7 569 --- --- --- --- RMDN2 151393 broad.mit.edu 37 2 38178783 38178783 + Frame_Shift_Del DEL T T - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr2:38178783delT ENST00000407257.1 + 2 572 c.425delT c.(424-426)atfs p.I142fs RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000354545.2_Intron regulator of microtubule dynamics 2 AAGAGTGCCATTTTTTTTGAT 0.333 10 536 --- --- --- --- SOS1 6654 broad.mit.edu 37 2 39213243 39213243 + Frame_Shift_Del DEL T T - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr2:39213243delT ENST00000426016.1 - 24 3810 c.3724delA c.(3724-3726)gtfs p.S1242fs SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 1242 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) CCATGGTCACTTTTTTTGCCC 0.517 Noonan syndrome 7 586 --- --- --- --- SLC4A5 57835 broad.mit.edu 37 2 74451994 74451994 + Frame_Shift_Del DEL T T - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr2:74451994delT ENST00000394019.2 - 28 3616 c.3219delA c.(3217-3219)aafs p.K1073fs SLC4A5_ENST00000377634.4_Frame_Shift_Del_p.K1089fs|SLC4A5_ENST00000377632.1_Frame_Shift_Del_p.K992fs|SLC4A5_ENST00000358683.4_Frame_Shift_Del_p.K971fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000357822.5_Frame_Shift_Del_p.K1089fs|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000359484.4_Frame_Shift_Del_p.K971fs|SLC4A5_ENST00000423644.1_3'UTR|SLC4A5_ENST00000346834.4_Frame_Shift_Del_p.K992fs NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 1089 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CGTGGGCCCCTTTTTTTCTCT 0.517 7 1106 --- --- --- --- ANKRD36BP2 0 broad.mit.edu 37 2 89082220 89082223 + RNA DEL TGAT TGAT - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr2:89082220_89082223delTGAT ENST00000393525.3 + 0 474 TGTGTACATATGATTGATTATGTA 0.328 7 185 --- --- --- --- IGKV1D-8 0 broad.mit.edu 37 2 90259860 90259861 + RNA INS - - C TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr2:90259860_90259861insC ENST00000471857.1 + 0 236 AATTTACTCAGCCAATGTGCTC 0.480 15 793 --- --- --- --- ANKRD20A8P 0 broad.mit.edu 37 2 95513688 95513689 + RNA INS - - TA TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr2:95513688_95513689insTA ENST00000432432.2 - 0 850 NR_040113.1 CTCACCTAATGTATAAGATGGA 0.327 21 642 --- --- --- --- ANKRD36 375248 broad.mit.edu 37 2 97808574 97808575 + Splice_Site INS - - A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr2:97808574_97808575insA ENST00000420699.2 + 8 1145 c.e8+2 ANKRD36_ENST00000461153.2_Splice_Site NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 p.?(1) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CTGGGACAGGTATTTTGGAATA 0.366 25 43 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr2:98427639delT ENST00000186436.5 - 18 2148 c.1920delA c.(1918-1920)aafs p.K640fs NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 640 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TCCCCTCTAATTTTTTTGCAG 0.393 7 1328 --- --- --- --- LIPT1 51601 broad.mit.edu 37 2 99778781 99778781 + Frame_Shift_Del DEL A A - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr2:99778781delA ENST00000393477.3 + 4 713 c.361delA c.(361-363)aafs p.K123fs LIPT1_ENST00000393471.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393474.3_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393473.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000340066.1_Frame_Shift_Del_p.K123fs|MRPL30_ENST00000410042.1_Intron NM_145197.2 NP_660198.1 Q9Y234 LIPT_HUMAN lipoyltransferase 1 123 lipid metabolic process|protein lipoylation mitochondrion acyltransferase activity large_intestine(6)|lung(1) 7 Lipoic Acid(DB00166) CTTTACAACCAAAAAAAAGTA 0.388 8 405 --- --- --- --- COBLL1 22837 broad.mit.edu 37 2 165551295 165551296 + Frame_Shift_Ins INS - - A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr2:165551295_165551296insA ENST00000375458.2 - 11 2827_2828 c.2606_2607insT c.(2605-2607)tcafs p.S869fs COBLL1_ENST00000392717.2_Frame_Shift_Ins_p.S945fs|COBLL1_ENST00000342193.4_Frame_Shift_Ins_p.S907fs|COBLL1_ENST00000409184.3_Frame_Shift_Ins_p.S907fs|COBLL1_ENST00000194871.6_Frame_Shift_Ins_p.S974fs NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 945 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 TCTGCATCTGCAAAAAAAAAGA 0.421 7 241 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr2:218712887_218712889delGCT ENST00000171887.4 - 17 2428_2430 c.1976_1978delAGC c.(1975-1980)cct>c p.QP659del TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del|TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 659 Gln-rich. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGTGGGCGAGgctgctgctgctg 0.660 7 167 --- --- --- --- IRS1 3667 broad.mit.edu 37 2 227660808 227660810 + In_Frame_Del DEL GCT GCT - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr2:227660808_227660810delGCT ENST00000305123.4 - 1 3665_3667 c.2645_2647delAGC c.(2644-2649)ccc>c p.QP882del NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 882 Poly-Gln. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TGCAGCAAGGgctgctgctgctg 0.626 11 403 --- --- --- --- NGEF 25791 broad.mit.edu 37 2 233785144 233785146 + In_Frame_Del DEL CTC CTC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr2:233785144_233785146delCTC ENST00000264051.3 - 5 954_956 c.676_678delGAG c.(676-678)del p.E226del NGEF_ENST00000409079.1_In_Frame_Del_p.E134del|NGEF_ENST00000373552.4_In_Frame_Del_p.E134del NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 226 Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GGCTGGCCGGctcctcctcctcc 0.586 7 464 --- --- --- --- MST1 4485 broad.mit.edu 37 3 49723112 49723112 + Frame_Shift_Del DEL T T - rs11288337 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr3:49723112delT ENST00000449682.2 - 11 1665 c.1304delA c.(1303-1305)acfs p.N435fs MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 421 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCCATCTGGGTTCCGGCAGAA 0.587 8 276 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129546680 129546682 + In_Frame_Del DEL GCA GCA - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr3:129546680_129546682delGCA ENST00000393238.3 - 3 880_882 c.540_542delTGC c.(538-543)gca>gc p.AA180del TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 180 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 TGGTAGACATgcagcagcagcag 0.483 7 285 --- --- --- --- EIF4G1 1981 broad.mit.edu 37 3 184039744 184039746 + In_Frame_Del DEL GAA GAA - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr3:184039744_184039746delGAA ENST00000342981.4 + 9 1786_1788 c.1372_1374delGAA c.(1372-1374)del p.E465del EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 465 Poly-Glu. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAGGAAATGgaagaagaagaag 0.562 8 527 --- --- --- --- TMEM175 84286 broad.mit.edu 37 4 946206 946207 + Frame_Shift_Del DEL TG TG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr4:946206_946207delTG ENST00000264771.4 + 7 615_616 c.430_431delTG c.(430-432)tfs p.C144fs TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000504180.1_3'UTR NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 144 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CTTCTTGTTCTGTGTGTGTGTG 0.515 10 1072 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4204225 4204229 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr4:4204225_4204229delTTGAG ENST00000296358.4 - 4 700_704 c.676_680delCTCAA c.(676-681)tfs p.LN226fs NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 226 biomineral tissue development extracellular space|integral to membrane p.L226fs*1(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTGCTCATTGAGTTGGTGCTTT 0.502 9 543 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4228274 4228282 + In_Frame_Del DEL CCACAGCAG CCACAGCAG - rs111245977 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr4:4228274_4228282delCCACAGCAG ENST00000296358.4 - 1 334_342 c.310_318delCTGCTGTGG c.(310-318)del p.LLW104del NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 104 biomineral tissue development extracellular space|integral to membrane p.L104_W106delLLW(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACCACAGCATCCACAGCAGCTGCAGCAGC 0.727 47 107 --- --- --- --- LIAS 11019 broad.mit.edu 37 4 39462464 39462464 + Frame_Shift_Del DEL A A - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr4:39462464delA ENST00000261434.3 + 2 218 c.100delA c.(100-102)aafs p.K36fs LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000515061.1_3'UTR NM_006859.2 NP_006850.2 O43766 LIAS_HUMAN lipoic acid synthetase 36 inflammatory response|response to lipopolysaccharide|response to oxidative stress mitochondrion 4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding p.K36fs*31(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2) 12 Lipoic Acid(DB00166) CTTGCCAGATAAAAAAAAGGA 0.393 11 862 --- --- --- --- UGDH 7358 broad.mit.edu 37 4 39515752 39515753 + Frame_Shift_Ins INS - - A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr4:39515752_39515753insA ENST00000316423.6 - 3 556_557 c.214_215insT c.(214-216)tacfs p.Y72fs UGDH_ENST00000501493.2_Frame_Shift_Ins_p.Y72fs|UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000506179.1_Frame_Shift_Ins_p.Y72fs NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase 72 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity p.S72fs*18(1) breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 NADH(DB00157) AATATTGGTAGAAAAAAAAAGA 0.297 7 439 --- --- --- --- CDKL2 8999 broad.mit.edu 37 4 76539579 76539580 + Frame_Shift_Ins INS - - T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr4:76539579_76539580insT ENST00000429927.2 - 3 925_926 c.222_223insA c.(220-225)aagatgfs p.M75fs CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 75 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) AGGTACCATCGTTTTTTTTTCT 0.322 9 286 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123250 81123252 + In_Frame_Del DEL CAG CAG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr4:81123250_81123252delCAG ENST00000339711.4 + 10 1865_1867 c.634_636delCAG c.(634-636)del p.Q217del PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 217 Gly-rich.|Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 tggcaaagaccagcagcagcagc 0.655 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 395 --- --- --- --- PKD2 5311 broad.mit.edu 37 4 88986559 88986559 + Frame_Shift_Del DEL A A - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr4:88986559delA ENST00000237596.2 + 11 2218 c.2152delA c.(2152-2154)aafs p.K719fs PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 719 EF-hand domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) ACTAAAACTGAAAAAAAATAC 0.383 8 707 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618484 89618486 + In_Frame_Del DEL TCC TCC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr4:89618484_89618486delTCC ENST00000323061.5 - 1 900_902 c.420_422delGGA c.(418-423)gaa>ga p.EE142del HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 142 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) gtactcctcttcctcctcctcct 0.606 8 437 --- --- --- --- NPNT 255743 broad.mit.edu 37 4 106863682 106863684 + In_Frame_Del DEL CCA CCA - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr4:106863682_106863684delCCA ENST00000379987.2 + 8 1198_1200 c.982_984delCCA c.(982-984)del p.P333del NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 333 Pro-rich. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) AATTCCTACTCCACCACCACCAC 0.522 8 474 --- --- --- --- EXOSC9 5393 broad.mit.edu 37 4 122723894 122723894 + Frame_Shift_Del DEL T T - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr4:122723894delT ENST00000512454.1 + 2 395 c.179delT c.(178-180)ctfs p.L60fs EXOSC9_ENST00000379663.3_Frame_Shift_Del_p.L76fs|EXOSC9_ENST00000243498.5_Frame_Shift_Del_p.L76fs|EXOSC9_ENST00000509980.1_3'UTR Q06265 EXOS9_HUMAN exosome component 9 76 ARE binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1) 16 GAAGGTATTCTTTTTTTTAAC 0.383 9 654 --- --- --- --- FAT4 79633 broad.mit.edu 37 4 126241496 126241502 + Frame_Shift_Del DEL CAATACC CAATACC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr4:126241496_126241502delCAATACC ENST00000394329.3 + 1 3943_3949 c.3930_3936delCAATACC c.(3928-3936)gafs p.DNT1310fs NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1310 Cadherin 12. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T1312S(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATGAAAATGACAATACCCCTTCTTTCC 0.391 101 431 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140810639 140810641 + In_Frame_Del DEL GCT GCT - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr4:140810639_140810641delGCT ENST00000509479.2 - 2 2805_2807 c.1949_1951delAGC c.(1948-1953)ccg>c p.QP650del MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del|MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 646 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) GGAGGTGGCGgctgctgctgctg 0.586 8 412 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140811064 140811069 + In_Frame_Del DEL TGCTGC TGCTGC - rs71855026 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr4:140811064_140811069delTGCTGC ENST00000509479.2 - 2 2377_2382 c.1521_1526delGCAGCA c.(1519-1527)caa>ca p.QQQ507del MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del|MAML3_ENST00000398940.1_Splice_Site_p.37_splice NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 506 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) TGAGtgctgttgctgctgctgctgct 0.515 46 520 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190873437 190873439 + In_Frame_Del DEL AAG AAG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr4:190873437_190873439delAAG ENST00000226798.4 + 3 476_478 c.254_256delAAG c.(253-258)aaa>a p.KE85del FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 85 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GCTCCACACAAAGAAGGTTTGTG 0.414 10 763 --- --- --- --- AC091878.1 0 broad.mit.edu 37 5 17202757 17202758 + RNA INS - - T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr5:17202757_17202758insT ENST00000399760.2 - 0 971 NR_027253.1 ttattttttaattttttttttg 0.490 7 137 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr5:32419951_32419953delGGT ENST00000265069.8 - 3 495_497 c.393_395delACC c.(391-396)ccc>cc p.PP131del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AGTAGCTGGGGGTGGTGGTGGTG 0.483 11 950 --- --- --- --- AP3S1 1176 broad.mit.edu 37 5 115202418 115202421 + Frame_Shift_Del DEL AAGA AAGA - rs80118146 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr5:115202418_115202421delAAGA ENST00000316788.7 + 2 678_681 c.121_124delAAGA c.(121-126)gafs p.KR41fs NM_001284.2 NP_001275.1 Q92572 AP3S1_HUMAN adaptor-related protein complex 3, sigma 1 subunit 41 insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle protein binding|protein transporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1) 12 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05) TTTGGTATCTAAGAGAGATGAAAA 0.304 17 287 --- --- --- --- MEGF10 84466 broad.mit.edu 37 5 126792989 126792991 + In_Frame_Del DEL CAG CAG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr5:126792989_126792991delCAG ENST00000274473.6 + 26 3669_3671 c.3402_3404delCAG c.(3400-3405)aac>aa p.NS1134del MEGF10_ENST00000503335.2_In_Frame_Del_p.NS1134del NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 1134 Necessary for formation of large intracellular vacuoles.|Ser-rich. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) gcagcagcaacagcagcagcagc 0.512 9 280 --- --- --- --- IRF1 3659 broad.mit.edu 37 5 131822801 131822801 + Frame_Shift_Del DEL T T - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr5:131822801delT ENST00000245414.4 - 4 467 c.209delA c.(208-210)agfs p.K70fs IRF1_ENST00000405885.2_Frame_Shift_Del_p.K70fs|IRF1_ENST00000463784.1_5'UTR NM_002198.2 NP_002189.1 P10914 IRF1_HUMAN interferon regulatory factor 1 70 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) ATCTGGCTCCTTTTCCCCTGC 0.572 7 1968 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139905676 139905676 + Frame_Shift_Del DEL A A - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr5:139905676delA ENST00000297183.6 + 26 4712 c.4588delA c.(4588-4590)aafs p.K1531fs ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGTTTGGGAAAAAAAGGGC 0.423 8 823 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216400 149216402 + In_Frame_Del DEL CAG CAG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr5:149216400_149216402delCAG ENST00000309241.5 + 8 2414_2416 c.2382_2384delCAG c.(2380-2385)gac>ga p.DS794del PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 794 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity p.S795N(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TCTTTGAAGACAGCAGCAGCAGC 0.601 18 831 --- --- --- --- TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG TTG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr5:156378745_156378747delTTG ENST00000274532.2 - 3 511_513 c.455_457delCAA c.(454-459)agc>a p.TS152del TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 152 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTGGGGCTTGTTGTTGTTGT 0.537 18 1595 --- --- --- --- GABRB2 0 broad.mit.edu 37 5 160886786 160886787 + Frame_Shift_Ins INS - - TT TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr5:160886786_160886787insTT ENST00000274547.2 - 5 518_519 c.301_302insAA c.(301-303)accfs p.T101fs GABRB2_ENST00000517901.1_Frame_Shift_Ins_p.T38fs|GABRB2_ENST00000393959.1_Frame_Shift_Ins_p.T101fs|GABRB2_ENST00000353437.6_Frame_Shift_Ins_p.T101fs|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000520240.1_Frame_Shift_Ins_p.T101fs NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 101 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GTTTAAAGGTATTACATTATAG 0.401 11 314 --- --- --- --- BNIP1 662 broad.mit.edu 37 5 172578611 172578611 + Frame_Shift_Del DEL T T - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr5:172578611delT ENST00000231668.9 + 3 324 c.220delT c.(220-222)ttfs p.F76fs BNIP1_ENST00000351486.5_Intron|BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000393770.4_Intron NM_013979.2 NP_053582.2 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 1 59 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 11 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TGCTTCCACATTTTTTTTTAA 0.348 10 482 --- --- --- --- PPP1R18 170954 broad.mit.edu 37 6 30653494 30653496 + In_Frame_Del DEL TGC TGC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr6:30653494_30653496delTGC ENST00000274853.3 - 1 2176_2178 c.300_302delGCA c.(298-303)caa>ca p.QQ102del PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del|PPP1R18_ENST00000488324.1_Intron NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 102 Poly-Gln. cytoplasm|cytoskeleton actin binding p.Q100Q(1) CCGTtgttgttgctgctgctgct 0.650 12 325 --- --- --- --- ANKS1A 23294 broad.mit.edu 37 6 34857313 34857318 + In_Frame_Del DEL GCGGCA GCGGCA - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr6:34857313_34857318delGCGGCA ENST00000360359.3 + 1 272_277 c.134_139delGCGGCA c.(133-141)ggc>g p.GGS45del ANKS1A_ENST00000535627.1_In_Frame_Del_p.GGS45del NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 45 Gly-rich. cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 ggcggcggcggcggcagcggcggcgg 0.772 2 4 --- --- --- --- C6orf89 221477 broad.mit.edu 37 6 36867371 36867371 + Frame_Shift_Del DEL C C - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr6:36867371delC ENST00000480824.2 + 3 445 c.151delC c.(151-153)ccfs p.P53fs C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.P53fs|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.P60fs Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 53 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 ACCTCAGAGACCCCCCCCGCA 0.428 7 289 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)del p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 10 38 --- --- --- --- GRIK2 2898 broad.mit.edu 37 6 102503431 102503432 + Frame_Shift_Ins INS - - A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr6:102503431_102503432insA ENST00000369138.1 + 15 3028_3029 c.2538_2539insA c.(2536-2541)tcaaaafs p.SK846fs GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.SK797fs|GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000421544.1_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.SK770fs NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 846 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.N849fs*12(1)|p.N849fs*14(1) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TATACAAATCCAAAAAAAACGC 0.351 7 480 --- --- --- --- EPB41L2 2037 broad.mit.edu 37 6 131191073 131191075 + In_Frame_Del DEL CTG CTG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr6:131191073_131191075delCTG ENST00000337057.3 - 15 2416_2418 c.2235_2237delCAG c.(2233-2238)agt>ag p.SS745del EPB41L2_ENST00000368128.2_In_Frame_Del_p.SS745del|EPB41L2_ENST00000524581.1_In_Frame_Del_p.SS123del|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000527659.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000527411.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000530481.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000529208.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000530757.1_Intron NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 745 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CTCACTCTCACTGCTGCTGCTGC 0.562 9 348 --- --- --- --- CCDC28A 25901 broad.mit.edu 37 6 139097330 139097330 + Frame_Shift_Del DEL A A - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr6:139097330delA ENST00000332797.6 + 2 498 c.343delA c.(343-345)aafs p.K116fs NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 116 p.N117fs*5(2) autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) TGTCAATGCCAAAAAAAATGC 0.413 10 324 --- --- --- --- RMND1 55005 broad.mit.edu 37 6 151766726 151766726 + Frame_Shift_Del DEL T T - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr6:151766726delT ENST00000367303.4 - 2 343 c.221delA c.(220-222)agfs p.K74fs RMND1_ENST00000491268.1_5'UTR NM_017909.2 NP_060379.2 Q9NWS8 RMND1_HUMAN required for meiotic nuclear division 1 homolog (S. cerevisiae) 74 central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.146) OV - Ovarian serous cystadenocarcinoma(155;6.8e-11) GGTATCTGACTTTTTTTGGTT 0.428 8 699 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - - GCC rs3837151 by1000genomes TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr7:1586662_1586663insGCC ENST00000297477.5 - 9 1483_1484 c.1167_1168insGGC c.(1165-1170)ccgcgg>ccGGCgcgg p.389_390PR>PAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 389 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GAGCCGCCGCTGGGGTGGGTGC 0.703 14 201 --- --- --- --- PMS2CL 0 broad.mit.edu 37 7 6771674 6771675 + RNA INS - - T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr7:6771674_6771675insT ENST00000486256.1 + 0 619 NR_002217.1 ttttttttttctttttttttgg 0.421 8 259 --- --- --- --- ICA1 3382 broad.mit.edu 37 7 8198250 8198251 + Frame_Shift_Ins INS - - T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr7:8198250_8198251insT ENST00000402384.3 - 7 877_878 c.611_612insA c.(610-612)attfs p.I204fs ICA1_ENST00000422063.2_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000407906.1_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000406470.2_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000396675.3_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000401396.1_Frame_Shift_Ins_p.I192fs|ICA1_ENST00000265577.7_Frame_Shift_Ins_p.I203fs Q05084 ICA69_HUMAN islet cell autoantigen 1, 69kDa 204 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane p.N204fs*5(3) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) ATTTGTCAAAGTTTTTTTTTGC 0.376 7 324 --- --- --- --- HOXA1 3198 broad.mit.edu 37 7 27135317 27135319 + In_Frame_Del DEL TGG TGG - rs2074398 byFrequency TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr7:27135317_27135319delTGG ENST00000343060.4 - 1 274_276 c.213_215delCCA c.(211-216)cat>ca p.HH71del HOXA1_ENST00000355633.5_In_Frame_Del_p.HH71del|HOTAIRM1_ENST00000495032.1_RNA NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 71 Poly-His. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 ggggtggcgatggtggtggtggt 0.640 OREG0003750 type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 10 384 --- --- --- --- HOXA11-AS 0 broad.mit.edu 37 7 27224971 27224972 + RNA INS - - G rs147543798 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr7:27224971_27224972insG ENST00000522863.1 + 0 574 HOXA11-AS_ENST00000520360.1_RNA TTTCCCCCCCCCTTTCCTTTTT 0.535 OREG0003746|OREG0003747 type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=HOXA11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 17 --- --- --- --- AC007255.7 0 broad.mit.edu 37 7 29720482 29720483 + RNA INS - - G rs70980562 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr7:29720482_29720483insG ENST00000426767.1 - 0 366 NR_024278.1 CTCTCAGATCAGTGATGCCCTG 0.485 33 94 --- --- --- --- BBS9 27241 broad.mit.edu 37 7 33312723 33312723 + Frame_Shift_Del DEL T T - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr7:33312723delT ENST00000242067.6 + 8 1323 c.802delT c.(802-804)ttfs p.F269fs BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 269 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TGAGAGAAACTTTTTTTGCCT 0.393 Bardet-Biedl syndrome 10 915 --- --- --- --- POU6F2 11281 broad.mit.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr7:39379288_39379290delCAG ENST00000518318.2 + 5 601_603 c.559_561delCAG c.(559-561)del p.Q196del POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del P78424 PO6F2_HUMAN POU class 6 homeobox 2 196 Gln-rich. Q -> QQ (in Ref. 1; AAB49727/AAB49728). central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 gctccagctccagcagcagcagc 0.616 11 151 --- --- --- --- PSPH 5723 broad.mit.edu 37 7 56087292 56087292 + Splice_Site DEL C C - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr7:56087292delC ENST00000395471.3 - 5 1081 c.e5+1 PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Splice_Site P78330 SERB_HUMAN phosphoserine phosphatase L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1) 11 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GTTCCTCTTACCTTATGCCGG 0.577 7 301 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72664015 72664016 + RNA INS - - G TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr7:72664015_72664016insG ENST00000425256.1 - 0 884_885 NR_002164.1 ATACCACCCCCGGGGCATGCCA 0.505 7 72 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72683455 72683456 + RNA INS - - T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr7:72683455_72683456insT ENST00000425256.1 - 0 120 NR_002164.1 CGTTCTACCAgtttttttttgt 0.441 8 411 --- --- --- --- STX1A 6804 broad.mit.edu 37 7 73123425 73123427 + In_Frame_Del DEL CAT CAT - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr7:73123425_73123427delCAT ENST00000222812.3 - 2 82_84 c.56_58delATG c.(55-60)gtc>g p.DV19del STX1A_ENST00000395154.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395155.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395156.3_In_Frame_Del_p.DV19del NM_004603.3 NP_004594.1 Q16623 STX1A_HUMAN syntaxin 1A (brain) 19 energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome SNAP receptor activity large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(55;0.0908)|all_lung(88;0.198) GTGACAGCGACATCATCATCATC 0.586 9 627 --- --- --- --- COL26A1 136227 broad.mit.edu 37 7 101182560 101182561 + RNA DEL TG TG - rs10543096 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr7:101182560_101182561delTG ENST00000313669.7 + 0 639 COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 CTTTTCtgtctgtgtgtgtgtg 0.450 3 6 --- --- --- --- TRBV7-8 0 broad.mit.edu 37 7 142099805 142099806 + RNA DEL AC AC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr7:142099805_142099806delAC ENST00000390359.3 - 0 88 TAGTCATcatacacacacacac 0.441 8 325 --- --- --- --- TRBV7-4 0 broad.mit.edu 37 7 142176678 142176679 + RNA DEL CA CA - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr7:142176678_142176679delCA ENST00000390369.2 - 0 49 GTAGTCATCGCACACACACACA 0.460 16 334 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481743 142481745 + RNA DEL CTA CTA - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr7:142481743_142481745delCTA ENST00000603901.1 + 0 454 NR_001296.3 ACCCACATTTCTACTTTCTTTAT 0.517 11 602 --- --- --- --- RBM33 155435 broad.mit.edu 37 7 155531073 155531074 + Frame_Shift_Del DEL CA CA - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr7:155531073_155531074delCA ENST00000401878.3 + 11 1911_1912 c.1713_1714delCA c.(1711-1716)cccafs p.PT571fs NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 571 Pro-rich. nucleotide binding|RNA binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) CGTTTCTGCCCACACACACACA 0.530 8 319 --- --- --- --- TDRP 157695 broad.mit.edu 37 8 494659 494664 + In_Frame_Del DEL GGCGGC GGCGGC - rs71202629 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr8:494659_494664delGGCGGC ENST00000324079.6 - 1 334_339 c.94_99delGCCGCC c.(94-99)del p.AA32del TDRP_ENST00000523656.1_In_Frame_Del_p.AA32del|TDRP_ENST00000427263.2_In_Frame_Del_p.AA32del testis development related protein p.A32_A33delAA(1) CCTGCGCCTGggcggcggcggcggcg 0.782 4 5 --- --- --- --- SFTPC 6440 broad.mit.edu 37 8 22021060 22021061 + Frame_Shift_Del DEL GT GT - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr8:22021060_22021061delGT ENST00000522109.1 + 4 460_461 c.436_437delGT c.(436-438)gfs p.V146fs SFTPC_ENST00000437090.2_Splice_Site|SFTPC_ENST00000318561.3_Splice_Site|SFTPC_ENST00000520605.1_Splice_Site|SFTPC_ENST00000521315.1_Splice_Site|SFTPC_ENST00000524255.1_Splice_Site P11686 PSPC_HUMAN surfactant protein C 146 BRICHOS. respiratory gaseous exchange extracellular space p.M146fs*41(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) CAACTTCCAGGTGTGTGTGTGT 0.545 8 110 --- --- --- --- NEFL 4747 broad.mit.edu 37 8 24811843 24811843 + RNA DEL A A - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr8:24811843delA ENST00000221169.5 - 0 1639 P07196 NFL_HUMAN neurofilament, light polypeptide anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AAAATAAAACAAAAAAAAAAT 0.328 10 187 --- --- --- --- KAT6A 7994 broad.mit.edu 37 8 41798420 41798422 + In_Frame_Del DEL CTC CTC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr8:41798420_41798422delCTC ENST00000396930.3 - 16 3520_3522 c.2977_2979delGAG c.(2977-2979)del p.E993del KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 993 Poly-Glu. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GGCTTTCCGGCTCCTCCTCCTCC 0.567 8 653 --- --- --- --- RUNX1T1 862 broad.mit.edu 37 8 92998419 92998419 + Frame_Shift_Del DEL T T - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr8:92998419delT ENST00000523629.1 - 9 1666 c.1212delA c.(1210-1212)aafs p.K404fs RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 404 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TGCCGCCACCTTTTTTTAAGT 0.517 7 1027 --- --- --- --- PABPC1 26986 broad.mit.edu 37 8 101724994 101724995 + Frame_Shift_Ins INS - - A rs140822921 by1000genomes TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr8:101724994_101724995insA ENST00000318607.5 - 6 1889_1890 c.761_762insT c.(760-762)agafs p.R254fs PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.R209fs|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.R222fs|PABPC1_ENST00000519596.1_5'UTR NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 254 CSDE1-binding.|RRM 3. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) CATTGAGCTCCTTTCCGTTCAT 0.371 13 539 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr8:110455173_110455174insG ENST00000378402.5 + 36 4497 c.e36-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 HNSCC(38;0.096) 11 689 --- --- --- --- SLC39A4 55630 broad.mit.edu 37 8 145637952 145637954 + In_Frame_Del DEL CAG CAG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr8:145637952_145637954delCAG ENST00000276833.5 - 11 2140_2142 c.1837_1839delCTG c.(1837-1839)del p.L613del SLC39A4_ENST00000301305.3_In_Frame_Del_p.L638del|SLC39A4_ENST00000531013.1_5'UTR NM_017767.2 NP_060237.2 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), member 4 638 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) CGTACAGGGACAGCAGCAGCAGG 0.601 7 1369 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21974768 21974775 + Frame_Shift_Del DEL GCGGCCGT GCGGCCGT - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr9:21974768_21974775delGCGGCCGT ENST00000304494.5 - 1 322_329 c.52_59delACGGCCGC c.(52-60)gfs p.TAA18fs CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.TAA18fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.TAA18fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.TAA18fs|CDKN2A_ENST00000494262.1_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 18 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.?(23)|p.A20P(3)|p.A19_A20insTA(3)|p.T18P(2)|p.A20T(2)|p.S12fs*6(1)|p.A20E(1)|p.0(1)|p.A20fs*26(1)|p.S12fs*20(1)|p.A17fs*5(1)|p.S7_A19del(1)|p.A20fs*6(1)|p.T18M(1)|p.A20_A21del(1)|p.A20S(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) ACCCCGGGCCGCGGCCGTGGCCAGCCAG 0.745 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 106 166 --- --- --- --- FAM74A3 0 broad.mit.edu 37 9 40715923 40715924 + RNA DEL AA AA - rs62565543 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr9:40715923_40715924delAA ENST00000604146.1 + 0 262_263 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAGACGTGGAAAGAGCTCAGA 0.569 8 136 --- --- --- --- OR13C5 138799 broad.mit.edu 37 9 107361451 107361452 + Frame_Shift_Del DEL GC GC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr9:107361451_107361452delGC ENST00000374779.2 - 1 336_337 c.243_244delGC c.(241-246)actafs p.TL81fs NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 AAGCTCACTAGCGTGGAGGGAA 0.510 12 265 --- --- --- --- TSC1 0 broad.mit.edu 37 9 135771988 135771990 + In_Frame_Del DEL GCT GCT - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr9:135771988_135771990delGCT ENST00000298552.3 - 23 3348_3350 c.3127_3129delAGC c.(3127-3129)del p.S1043del TSC1_ENST00000545250.1_In_Frame_Del_p.S992del|TSC1_ENST00000440111.2_In_Frame_Del_p.S1043del NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 1043 Poly-Ser. activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.S1043N(1)|p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TAGAAAGCTCgctgctgctgctg 0.640 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 7 267 --- --- --- --- RABL6 55684 broad.mit.edu 37 9 139734633 139734635 + In_Frame_Del DEL AGA AGA - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr9:139734633_139734635delAGA ENST00000371675.3 + 14 2498_2500 c.1613_1615delAGA c.(1612-1617)gag>g p.EK538del RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del RAB, member RAS oncogene family-like 6 CCCTCTaaggagaagaagaagaa 0.571 12 371 --- --- --- --- KIAA1217 56243 broad.mit.edu 37 10 24822125 24822127 + In_Frame_Del DEL GAA GAA - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr10:24822125_24822127delGAA ENST00000376451.2 + 11 2682_2684 c.2422_2424delGAA c.(2422-2424)del p.E812del KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del Q5T5P2 SKT_HUMAN KIAA1217 1129 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GGATGAGGAGGAAGAAGAAGAAG 0.552 9 354 --- --- --- --- KIAA1462 57608 broad.mit.edu 37 10 30316501 30316503 + In_Frame_Del DEL CTG CTG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr10:30316501_30316503delCTG ENST00000375377.1 - 3 2675_2677 c.2574_2576delCAG c.(2572-2577)agt>ag p.SS858del NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 858 Ser-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACTCTCCTCActgctgctgctgc 0.571 12 528 --- --- --- --- AGAP6 414189 broad.mit.edu 37 10 51748574 51748594 + In_Frame_Del DEL GGCAGGAGCTAGGGACAGGAT GGCAGGAGCTAGGGACAGGAT - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr10:51748574_51748594delGGCAGGAGCTAGGGACAGGAT ENST00000374056.4 + 1 497_517 c.99_119delGGCAGGAGCTAGGGACAGGAT c.(97-120)gag>ga p.EAGARDRM33del AGAP6_ENST00000412531.3_In_Frame_Del_p.EAGARDRM33del C9IYN2 C9IYN2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 33 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 AGACCTATGAGGCAGGAGCTAGGGACAGGATGGCAGGAGCG 0.593 7 831 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61828727 61828729 + In_Frame_Del DEL GTG GTG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr10:61828727_61828729delGTG ENST00000280772.1 - 37 12101_12103 c.11910_11912delCAC c.(11908-11913)act>ac p.TT3976del ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3976 Thr-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 agtggtggtagtggtggtggtgg 0.468 13 784 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr10:81070787_81070789delCTC ENST00000334512.5 + 24 3514_3516 c.2942_2944delCTC c.(2941-2946)gct>g p.AP981del ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 981 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CACAGTGGGGCTCCTCCTCCTCC 0.635 12 920 --- --- --- --- AGAP11 119385 broad.mit.edu 37 10 88753099 88753100 + RNA INS - - T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr10:88753099_88753100insT ENST00000444431.1 + 0 64 RP11-96C23.5_ENST00000433214.2_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 AATGAGTTTACTTTTTTTTTTA 0.307 20 276 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr10:98336475delT ENST00000371142.4 - 2 430 c.214delA c.(214-216)gtfs p.S72fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 72 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGACTGATACTTTTTTTTGAC 0.363 17 749 --- --- --- --- INA 9118 broad.mit.edu 37 10 105048271 105048273 + In_Frame_Del DEL GAG GAG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr10:105048271_105048273delGAG ENST00000369849.4 + 3 1394_1396 c.1345_1347delGAG c.(1345-1347)del p.E454del NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 454 Poly-Glu.|Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton p.E449_E450delEE(1) breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACTTAAGAAAGAGGAGGAGGAGG 0.458 19 607 --- --- --- --- SIGIRR 59307 broad.mit.edu 37 11 406437 406439 + In_Frame_Del DEL GTC GTC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr11:406437_406439delGTC ENST00000431843.2 - 9 1285_1287 c.979_981delGAC c.(979-981)del p.D327del SIGIRR_ENST00000397632.3_In_Frame_Del_p.D327del|SIGIRR_ENST00000382520.2_In_Frame_Del_p.D327del|SIGIRR_ENST00000332725.3_In_Frame_Del_p.D327del|SIGIRR_ENST00000531205.1_In_Frame_Del_p.D327del NM_001135054.1 NP_001128526.1 Q6IA17 SIGIR_HUMAN single immunoglobulin and toll-interleukin 1 receptor (TIR) domain 327 acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity integral to membrane protein binding|transmembrane receptor activity cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 13 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGGGGTCCTTGTCGTCCTGCAGC 0.650 137 338 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3720389 3720389 + Frame_Shift_Del DEL T T - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr11:3720389delT ENST00000324932.7 - 25 4352 c.3932delA c.(3931-3933)acfs p.N1311fs NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1328 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CACAGGGCTGTTTTTTTGGGT 0.512 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 10 1342 --- --- --- --- TIMM10B 26515 broad.mit.edu 37 11 6502755 6502757 + In_Frame_Del DEL GCA GCA - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr11:6502755_6502757delGCA ENST00000254616.6 + 1 79_81 c.9_11delGCA c.(7-12)cgg>cg p.RQ3del TIMM10B_ENST00000472836.1_In_Frame_Del_p.RQ3del|TIMM10B_ENST00000530751.1_In_Frame_Del_p.RQ3del NM_012192.3 NP_036324.1 translocase of inner mitochondrial membrane 10 homolog B (yeast) TGATGGagcggcagcagcagcag 0.601 7 125 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 19901475 19901477 + In_Frame_Del DEL AGC AGC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr11:19901475_19901477delAGC ENST00000396085.1 + 5 933_935 c.572_574delAGC c.(571-576)aag>a p.KQ191del NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del|NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 191 CH. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCCCGATACAagcagcagcagca 0.611 13 685 --- --- --- --- HNRNPKP3 0 broad.mit.edu 37 11 43283606 43283606 + RNA DEL A A - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr11:43283606delA ENST00000511537.1 - 0 1329 NR_033868.1 AAGCAAATGTAAAAAAAAAAA 0.388 8 46 --- --- --- --- RPLP0P2 0 broad.mit.edu 37 11 61405017 61405019 + RNA DEL CTG CTG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr11:61405017_61405019delCTG ENST00000496593.1 + 0 1621_1623 NR_002775.2 acagctgctcctgctgctgctgc 0.557 8 219 --- --- --- --- SLC22A9 114571 broad.mit.edu 37 11 63149668 63149669 + Frame_Shift_Ins INS - - A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr11:63149668_63149669insA ENST00000279178.3 + 6 1241_1242 c.992_993insA c.(991-993)gcafs p.A331fs SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 331 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CTGGAGGCAGCACAAAAAAAAA 0.406 10 762 --- --- --- --- FAU 2197 broad.mit.edu 37 11 64888248 64888250 + In_Frame_Del DEL TCT TCT - rs1065065 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr11:64888248_64888250delTCT ENST00000529639.1 - 5 696_698 c.305_307delAGA c.(304-309)aca>a p.KT102del FAU_ENST00000529259.1_3'UTR|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del NM_001997.4 NP_001988.1 P35544 UBIM_HUMAN Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed 0 NS(3)|kidney(1)|large_intestine(2) 6 GCCCGACCTGTCTTCTTCTTCTT 0.542 8 730 --- --- --- --- DNAJB13 374407 broad.mit.edu 37 11 73676057 73676057 + Frame_Shift_Del DEL A A - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr11:73676057delA ENST00000339764.1 + 4 1220 c.469delA c.(469-471)aafs p.K158fs DNAJB13_ENST00000537753.1_5'UTR|RP11-167N4.2_ENST00000540886.1_RNA|RP11-167N4.2_ENST00000537019.1_RNA NM_153614.2 NP_705842.2 P59910 DJB13_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 13 158 apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding large_intestine(3)|lung(2) 5 Breast(11;7.42e-05) TGGCTGCACCAAAAAAATTAA 0.572 OREG0021218 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 417 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 8 37 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr11:108788635_108788637delTGA ENST00000526794.1 + 17 2372_2374 c.2340_2342delTGA c.(2338-2343)agt>ag p.SD780del DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 780 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.355 T NUP98 AML* 10 422 --- --- --- --- RPS25 6230 broad.mit.edu 37 11 118888737 118888739 + In_Frame_Del DEL CTT CTT - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr11:118888737_118888739delCTT ENST00000527673.1 - 2 433_435 c.28_30delAAG c.(28-30)del p.K10del RPS25_ENST00000528547.1_5'UTR NM_001028.2 NP_001019.1 P62851 RS25_HUMAN ribosomal protein S25 10 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding|RNA binding endometrium(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) TTCCAGCGTCCTTCTTCTTCTTG 0.532 7 948 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546320 11546322 + In_Frame_Del DEL TTG TTG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr12:11546320_11546322delTTG ENST00000389362.4 - 3 725_727 c.690_692delCAA c.(688-693)aag>aa p.NK230del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTTGGGACTTGTTGTCTCCTT 0.601 11 1847 --- --- --- --- FAR2 55711 broad.mit.edu 37 12 29450110 29450110 + Frame_Shift_Del DEL A A - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr12:29450110delA ENST00000182377.4 + 4 790 c.522delA c.(520-522)ccfs p.P174fs FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 174 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 CTGTGGAGCCAAAAAAAATCA 0.388 7 499 --- --- --- --- RP11-493L12.5 0 broad.mit.edu 37 12 47761313 47761314 + RNA INS - - T rs57593482 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr12:47761313_47761314insT ENST00000550019.1 + 0 262 ttcgctctctattttttttttt 0.406 22 40 --- --- --- --- KRT73 319101 broad.mit.edu 37 12 53001991 53001991 + Frame_Shift_Del DEL T T - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr12:53001991delT ENST00000305748.3 - 9 1646 c.1612delA c.(1612-1614)ccfs p.T538fs RP11-641A6.2_ENST00000551089.1_RNA NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 538 Tail. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) TATCTCATGGTTTTTTTGGTG 0.532 10 1207 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759192 55759192 + Frame_Shift_Del DEL T T - rs75456529 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr12:55759192delT ENST00000343399.3 + 1 298 c.298delT c.(298-300)ttfs p.F102fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 GGCTCAGCTATTTTTTTTCAT 0.438 13 812 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56558379 56558381 + In_Frame_Del DEL AGG AGG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr12:56558379_56558381delAGG ENST00000550164.1 - 28 3381_3383 c.3367_3369delCCT c.(3367-3369)del p.P1123del RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000347471.4_Intron Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1092 Pro-rich. HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694). chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TGGATGGAGCAGGAGGAGGAGGA 0.591 13 249 --- --- --- --- ZFC3H1 196441 broad.mit.edu 37 12 72057256 72057258 + In_Frame_Del DEL GCT GCT - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr12:72057256_72057258delGCT ENST00000378743.3 - 1 491_493 c.133_135delAGC c.(133-135)del p.S45del ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 45 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GCCCGCCGCCGCTGCTGCTGCTG 0.631 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 860 --- --- --- --- TMTC3 160418 broad.mit.edu 37 12 88566416 88566417 + Frame_Shift_Ins INS - - T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr12:88566416_88566417insT ENST00000266712.6 + 8 1313_1314 c.1093_1094insT c.(1093-1095)tttfs p.F365fs NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 365 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 TGCATCGAACCTTTTTTTTCCA 0.312 7 628 --- --- --- --- CUX2 23316 broad.mit.edu 37 12 111758235 111758237 + In_Frame_Del DEL TCC TCC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr12:111758235_111758237delTCC ENST00000261726.6 + 17 2576_2578 c.2422_2424delTCC c.(2422-2424)del p.S813del NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 813 Poly-Ser. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GCCCTCGCTGTCCTCCTCCTCCT 0.749 11 338 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr12:121134166_121134168delGAA ENST00000228506.3 + 5 1125_1127 c.697_699delGAA c.(697-699)del p.E238del MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 238 Poly-Glu. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.E233E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gaaagaagaggaagaagaagaag 0.458 26 1154 --- --- --- --- SBNO1 55206 broad.mit.edu 37 12 123794283 123794283 + Frame_Shift_Del DEL T T - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr12:123794283delT ENST00000420886.2 - 25 3415 c.3416delA c.(3415-3417)atfs p.N1139fs SBNO1_ENST00000602398.1_Frame_Shift_Del_p.N1139fs|SBNO1_ENST00000267176.4_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000602750.1_Frame_Shift_Del_p.N1138fs NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1139 ATP binding|DNA binding|hydrolase activity p.N1138fs*9(1) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ATATCTTCCATTTTTTTTGGC 0.388 9 606 --- --- --- --- DHX37 57647 broad.mit.edu 37 12 125465270 125465272 + In_Frame_Del DEL CTC CTC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr12:125465270_125465272delCTC ENST00000308736.2 - 4 600_602 c.502_504delGAG c.(502-504)del p.E168del NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 168 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.E168delE(3) breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CCGATTCCGActcctcctcctcc 0.690 8 33 --- --- --- --- TPTE2P6 0 broad.mit.edu 37 13 25157747 25157748 + RNA INS - - T rs144668552 by1000genomes TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr13:25157747_25157748insT ENST00000453498.1 + 0 554 AAAATGGGAGGTTTTTTTAGGG 0.411 9 75 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671273 25671273 + Frame_Shift_Del DEL G G - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr13:25671273delG ENST00000281589.3 + 1 974 c.937delG c.(937-939)cgfs p.A313fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 313 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TCTCCGGAAAGCGTTTTCTCC 0.408 55 1495 --- --- --- --- WASF3 10810 broad.mit.edu 37 13 27250862 27250863 + Splice_Site DEL GT GT - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr13:27250862_27250863delGT ENST00000335327.5 + 7 894 c.e7+1 WASF3_ENST00000361042.4_Intron NM_006646.5 NP_006637.2 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CAGATACTAGGTGTGTGTGTGT 0.475 9 344 --- --- --- --- EEF1DP3 0 broad.mit.edu 37 13 32527564 32527566 + RNA DEL AAA AAA - rs3038111 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr13:32527564_32527566delAAA ENST00000428783.1 + 0 1264_1266 TGAGACCGGCaaaaaaaaaaaaa 0.389 19 110 --- --- --- --- VPS36 51028 broad.mit.edu 37 13 52990060 52990061 + Splice_Site INS - - A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr13:52990060_52990061insA ENST00000378060.4 - 14 1095 c.e14-2 NM_016075.2 NP_057159.2 Q86VN1 VPS36_HUMAN vacuolar protein sorting 36 homolog (S. cerevisiae) cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|late endosome|membrane|nucleus lipid binding p.?(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.14e-08) AGCAGCAACCTAAAAAAAAACA 0.396 17 685 --- --- --- --- RP11-394A14.2 0 broad.mit.edu 37 13 64407210 64407211 + RNA INS - - TACTGTCAG TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr13:64407210_64407211insTACTGTCAG ENST00000607822.1 - 0 2159 AGACCTTTATATAATTGCCAAA 0.366 39 740 --- --- --- --- IL25 0 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 10 727 --- --- --- --- RP11-407N17.3 0 broad.mit.edu 37 14 39746242 39746243 + Frame_Shift_Ins INS - - T rs75842899 byFrequency TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr14:39746242_39746243insT ENST00000553728.1 + 6 1986_1987 c.1773_1774insT c.(1771-1776)ctttttfs p.LF591fs CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000556148.1_Intron|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs TTGCTGTTCTCTTTTTTTTGTG 0.371 12 459 --- --- --- --- FBXO34 55030 broad.mit.edu 37 14 55818554 55818555 + Frame_Shift_Ins INS - - T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr14:55818554_55818555insT ENST00000313833.4 + 2 1691_1692 c.1446_1447insT c.(1444-1449)ttttttfs p.FF482fs FBXO34_ENST00000440021.1_Frame_Shift_Ins_p.FF482fs NM_017943.3 NP_060413.2 Q9NWN3 FBX34_HUMAN F-box protein 34 482 breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 CAGGGATGTTGTTTTTTTTGCC 0.441 8 713 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 8 768 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74205926 74205928 + In_Frame_Del DEL CTG CTG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr14:74205926_74205928delCTG ENST00000286523.5 - 2 1566_1568 c.784_786delCAG c.(784-786)del p.Q262del ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GTAGGgctgcctgctgctgctgc 0.650 7 192 --- --- --- --- MLH3 27030 broad.mit.edu 37 14 75514603 75514604 + Frame_Shift_Ins INS - - T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr14:75514603_75514604insT ENST00000355774.2 - 2 1970_1971 c.1755_1756insA c.(1753-1758)aaaatcfs p.I586fs MLH3_ENST00000556740.1_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000556257.1_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Frame_Shift_Ins_p.I586fs NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 586 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding p.A577_S588delAQTEKEKKKESS(2)|p.E586*(1) breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) TTGCTAGATTCTTTTTTTTTCT 0.356 Mismatch excision repair (MMR) 10 636 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - rs139532153 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr14:89629149_89629151delGAG ENST00000345097.4 - 7 1196_1198 c.1080_1082delCTC c.(1078-1083)tca>tc p.SS360del FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 360 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTCGTCGGCTGAGGAGGAGGAGG 0.650 8 249 --- --- --- --- CHGA 1113 broad.mit.edu 37 14 93397924 93397926 + In_Frame_Del DEL GAG GAG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr14:93397924_93397926delGAG ENST00000216492.5 + 6 965_967 c.685_687delGAG c.(685-687)del p.E236del CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 236 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) AAAGAGAgaagaggaggaggagg 0.645 8 180 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del|DDX24_ENST00000544005.1_Intron NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 89 Poly-Glu. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CTAGACTTTCCCTCCTCCTCCTC 0.443 7 827 --- --- --- --- IGHV3-43 0 broad.mit.edu 37 14 106926502 106926503 + RNA DEL AC AC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr14:106926502_106926503delAC ENST00000434710.1 - 0 126 ACACCTGCAAACACAGAGACAC 0.520 13 865 --- --- --- --- IGHV3-48 0 broad.mit.edu 37 14 106993939 106993941 + RNA DEL TAC TAC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr14:106993939_106993941delTAC ENST00000390624.2 - 0 302_304 TAGTATATGGTACTACTACTACT 0.502 22 1827 --- --- --- --- GOLGA8DP 0 broad.mit.edu 37 15 22709885 22709885 + RNA DEL G G - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr15:22709885delG ENST00000314246.8 - 0 1069 TATCTAATGTGGGGGGGGCTG 0.537 13 93 --- --- --- --- OCA2 4948 broad.mit.edu 37 15 28200305 28200305 + Splice_Site DEL T T - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr15:28200305delT ENST00000354638.3 - 17 1996 c.1842_splice c.e17+1 p.K614_splice OCA2_ENST00000353809.5_Splice_Site_p.K590_splice|OCA2_ENST00000382996.2_Splice_Site_p.K614_splice NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 614 K -> E (in OCA2).|K -> N (in OCA2). 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 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) GCTGGGTACCTTTTTTTGGAG 0.443 Oculocutaneous Albinism 7 872 --- --- --- --- SPATA5L1 79029 broad.mit.edu 37 15 45710840 45710841 + Frame_Shift_Ins INS - - T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr15:45710840_45710841insT ENST00000305560.6 + 7 2153_2154 c.2054_2055insT c.(2053-2055)tttfs p.F685fs SPATA5L1_ENST00000533841.1_3'UTR NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 685 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) GCAGAAACCTGTTTTTTTTCTG 0.361 8 477 --- --- --- --- NARG2 79664 broad.mit.edu 37 15 60745782 60745782 + Frame_Shift_Del DEL A A - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr15:60745782delA ENST00000561114.1 - 9 1307 c.1145delT c.(1144-1146)tcfs p.F382fs NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron NM_001276385.1 NP_001263314.1 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 0 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 CCCTTAGGGGAAAAAAAAAGC 0.338 12 144 --- --- --- --- ADAMTS7 11173 broad.mit.edu 37 15 79058183 79058184 + Frame_Shift_Ins INS - - TGGGTCC TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr15:79058183_79058184insTGGGTCC ENST00000388820.4 - 19 4279_4280 c.4069_4070insGGACCCA c.(4069-4071)gggfs p.-1357fs NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 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 AGGCTGACCCTTGGGTCCTGGG 0.653 9 128 --- --- --- --- Z84812.4 0 broad.mit.edu 37 16 81973 81974 + RNA INS - - GTCC TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr16:81973_81974insGTCC ENST00000568710.1 - 0 349 ATCAGCAGGAGGCCCACCTCGT 0.614 19 178 --- --- --- --- Z97634.5 0 broad.mit.edu 37 16 437259 437260 + RNA DEL AT AT - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr16:437259_437260delAT ENST00000412293.1 + 0 521 NR_024453.2 CTAATTCTAAATATATATATAT 0.421 21 147 --- --- --- --- TNRC6A 27327 broad.mit.edu 37 16 24807240 24807240 + Frame_Shift_Del DEL A A - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr16:24807240delA ENST00000395799.3 + 9 3670 c.3541delA c.(3541-3543)aafs p.K1182fs TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1182 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TCTGAGTGGCAAAAAAAGGAG 0.398 7 899 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29110406 29110406 + RNA DEL T T - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr16:29110406delT ENST00000564580.1 + 0 1098 TTAAAAAATCTTTTTTTTTTT 0.299 12 140 --- --- --- --- ORAI3 93129 broad.mit.edu 37 16 30964972 30964974 + In_Frame_Del DEL GTG GTG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr16:30964972_30964974delGTG ENST00000318663.4 + 2 919_921 c.695_697delGTG c.(694-699)tgt>t p.CG232del ORAI3_ENST00000562699.1_Intron|ORAI3_ENST00000566237.1_In_Frame_Del_p.CG232del|AC135048.13_ENST00000566056.1_RNA NM_152288.2 NP_689501.1 Q9BRQ5 ORAI3_HUMAN ORAI calcium release-activated calcium modulator 3 232 integral to membrane protein binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 6 CGGCAAGCCTGTGGTGGTGGTGG 0.645 OREG0023742 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 1002 --- --- --- --- CCDC135 84229 broad.mit.edu 37 16 57731885 57731887 + In_Frame_Del DEL GGA GGA - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr16:57731885_57731887delGGA ENST00000360716.3 + 3 245_247 c.24_26delGGA c.(22-27)gtg>gt p.VE8del CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del Q8IY82 CC135_HUMAN coiled-coil domain containing 135 8 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Gggagaaggtggaggaggaggag 0.591 16 544 --- --- --- --- RANBP10 57610 broad.mit.edu 37 16 67763279 67763281 + In_Frame_Del DEL GAG GAG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr16:67763279_67763281delGAG ENST00000317506.3 - 10 1369_1371 c.1254_1256delCTC c.(1252-1257)tcg>tc p.SS420del RANBP10_ENST00000411657.2_In_Frame_Del_p.SS303del|RANBP10_ENST00000602677.1_In_Frame_Del_p.SS420del|RANBP10_ENST00000536251.1_In_Frame_Del_p.SS191del|RANBP10_ENST00000448631.2_In_Frame_Del_p.SS364del NM_020850.1 NP_065901.1 Q6VN20 RBP10_HUMAN RAN binding protein 10 420 Ser-rich. p.S418S(2) endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) ggaagaggacgaggaggaggagg 0.567 7 269 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72821594 72821596 + In_Frame_Del DEL GCC GCC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr16:72821594_72821596delGCC ENST00000268489.5 - 10 11251_11253 c.10579_10581delGGC c.(10579-10581)del p.G3527del AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Del_p.G2613del NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3527 Poly-Gly. G -> GGG. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AGTGGTACGAgccgccgccgccg 0.690 8 607 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72991713 72991715 + In_Frame_Del DEL CCA CCA - rs4788682 by1000genomes TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr16:72991713_72991715delCCA ENST00000268489.5 - 2 3002_3004 c.2330_2332delTGG c.(2329-2334)gct>g p.VA777del ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 777 Poly-Ala. V -> A (in dbSNP:rs4788682). muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.V777V(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) gccgccgcagccaccgccgccgc 0.635 14 513 --- --- --- --- NPIPB15 440348 broad.mit.edu 37 16 74425400 74425402 + In_Frame_Del DEL CAA CAA - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr16:74425400_74425402delCAA ENST00000429990.1 + 7 850_852 c.754_756delCAA c.(754-756)del p.Q253del nuclear pore complex interacting protein family, member B15 TCCTCCAACTCAACAACATTCTA 0.517 7 659 --- --- --- --- ANKRD11 29123 broad.mit.edu 37 16 89349640 89349641 + Frame_Shift_Ins INS - - T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr16:89349640_89349641insT ENST00000301030.4 - 9 3769_3770 c.3309_3310insA c.(3307-3312)aaatgafs p.*1104fs ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.*1104fs NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1104 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TTCTTGTCATCTTTTTTTTCAG 0.465 12 1044 --- --- --- --- TCF25 22980 broad.mit.edu 37 16 89951019 89951020 + Frame_Shift_Ins INS - - A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr16:89951019_89951020insA ENST00000263346.8 + 3 440_441 c.384_385insA c.(382-387)aaaaaafs p.KK128fs TCF25_ENST00000563406.1_3'UTR NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 128 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TCCGGAAGAAGAAAAAAAAACA 0.446 8 199 --- --- --- --- TUBB8P7 0 broad.mit.edu 37 16 90161966 90161966 + RNA DEL T T - rs56265310 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr16:90161966delT ENST00000564451.1 + 0 1319 TUBB8P7_ENST00000567960.1_RNA CTACCATGAGTTGGGGTCACC 0.542 22 168 --- --- --- --- SLFN12 55106 broad.mit.edu 37 17 33749493 33749493 + Frame_Shift_Del DEL A A - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr17:33749493delA ENST00000394562.1 - 4 1078 c.555delT c.(553-555)ttfs p.F185fs SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs Q8IYM2 SLN12_HUMAN schlafen family member 12 185 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGTTCTATCAAAAAAAACCC 0.368 8 331 --- --- --- --- KRTAP9-1 0 broad.mit.edu 37 17 39346425 39346427 + In_Frame_Del DEL GTG GTG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr17:39346425_39346427delGTG ENST00000398470.1 + 1 287_289 c.287_289delGTG c.(286-291)tgc>t p.CG96del KRTAP9-1_ENST00000377723.3_Intron|KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice NM_001190460.1 NP_001177389.1 A8MXZ3 KRA91_HUMAN keratin associated protein 9-1 96 30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI]. keratin filament breast(1)|lung(3) 4 TCCAGCTGCTGTGGCCAAACCAG 0.606 8 80 --- --- --- --- RP11-798G7.5 0 broad.mit.edu 37 17 43596433 43596433 + RNA DEL T T - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr17:43596433delT ENST00000253803.2 + 0 267 TTTTTGCCGGTTTTGGCCTAC 0.478 9 2816 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 19 144 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056586 56056587 + In_Frame_Ins INS - - TGT TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr17:56056586_56056587insTGT ENST00000584396.1 - 5 1125_1126 c.1037_1038insACA c.(1036-1038)cgt>cACAgt p.346_346R>HS VEZF1_ENST00000581208.1_In_Frame_Ins_p.355_355R>HS Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 355 Poly-Gln. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 AGCTTGTCACAtgttgttgttg 0.475 8 825 --- --- --- --- CXXC1 30827 broad.mit.edu 37 18 47812275 47812277 + In_Frame_Del DEL CTG CTG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr18:47812275_47812277delCTG ENST00000285106.6 - 5 1195_1197 c.481_483delCAG c.(481-483)del p.Q161del CXXC1_ENST00000589940.1_In_Frame_Del_p.Q161del|CXXC1_ENST00000412036.2_In_Frame_Del_p.Q161del NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 161 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 ACCGTTTGATctgctgctgctgc 0.557 9 177 --- --- --- --- NEDD4L 0 broad.mit.edu 37 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr18:55992284_55992286delTCC ENST00000456986.1 + 9 807_809 c.207_209delTCC c.(205-210)ctt>ct p.LP69del NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 190 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AAGAGGAACTTCCTCCTCCTCCT 0.498 8 655 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr19:6531149_6531151delGCT ENST00000245817.3 + 1 140_142 c.102_104delGCT c.(100-105)ggg>gg p.GL34del NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 34 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 TGGTCGCGGGgctgctgctgctg 0.768 10 385 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10262139 10262139 + Frame_Shift_Del DEL T T - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr19:10262139delT ENST00000340748.4 - 23 2387 c.2152delA c.(2152-2154)tgfs p.M718fs DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 718 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCCTGGTGCATTTTTTTGGGT 0.507 8 1026 --- --- --- --- ZNF442 79973 broad.mit.edu 37 19 12461741 12461741 + Frame_Shift_Del DEL A A - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr19:12461741delA ENST00000242804.4 - 6 1240 c.658delT c.(658-660)ggfs p.W220fs ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 AAACTAGGCCAAAAAAAGGCT 0.403 9 964 --- --- --- --- ZNF43 7594 broad.mit.edu 37 19 22002025 22002026 + Splice_Site INS - - A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr19:22002025_22002026insA ENST00000594012.1 - 5 500 c.e5-2 ZNF43_ENST00000595461.1_Splice_Site|ZNF43_ENST00000354959.4_Splice_Site|ZNF43_ENST00000598288.1_Splice_Site|ZNF43_ENST00000598381.1_Splice_Site NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.?(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) CAATGGTCCCTAAAAAAAACAA 0.386 7 581 --- --- --- --- FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG CTG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr19:35940788_35940790delCTG ENST00000599180.1 + 2 252_254 c.172_174delCTG c.(172-174)del p.L62del FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron O15552 FFAR2_HUMAN free fatty acid receptor 2 62 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 7 269 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr19:40900180_40900182delTCC ENST00000324001.7 - 7 4347_4349 c.4077_4079delGGA c.(4075-4080)gaa>ga p.EE1359del PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1359 Poly-Glu. Missing. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTGCcctcttcctcctcctcct 0.695 9 163 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42753149 42753151 + In_Frame_Del DEL GAA GAA - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr19:42753149_42753151delGAA ENST00000222329.4 - 4 1270_1272 c.1113_1115delTTC c.(1111-1116)tcc>tc p.SS371del ERF_ENST00000440177.2_In_Frame_Del_p.SS296del|AC006486.9_ENST00000594664.1_Intron NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 371 Poly-Ser. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GAATGGGGAGGAAGAAGAAGAAG 0.680 7 670 --- --- --- --- LIPE-AS1 0 broad.mit.edu 37 19 43136362 43136363 + RNA DEL TG TG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr19:43136362_43136363delTG ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000594624.2_RNA NR_073179.1 TGAGTATGTATGTGTGTGTGTG 0.505 8 177 --- --- --- --- SIGLEC9 27180 broad.mit.edu 37 19 51628233 51628235 + Translation_Start_Site DEL TGC TGC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr19:51628233_51628235delTGC ENST00000440804.3 + 0 69_71 SIGLEC9_ENST00000250360.3_Start_Codon_Del NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) ACCCCAGACATGCTGCTGCTGCT 0.611 8 219 --- --- --- --- MIR520H 0 broad.mit.edu 37 19 54245839 54245840 + RNA INS - - GT rs111745142 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr19:54245839_54245840insGT ENST00000385126.1 + 0 74_75 NR_030215.1 TTCCCTTTAGAGTTACTGTTTG 0.421 37 173 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 12 479 --- --- --- --- DSTN 11034 broad.mit.edu 37 20 17581488 17581489 + Frame_Shift_Ins INS - - T TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr20:17581488_17581489insT ENST00000246069.6 + 2 455_456 c.109_110insT c.(109-111)tttfs p.F37fs DSTN_ENST00000543261.1_Frame_Shift_Ins_p.F20fs|DSTN_ENST00000474024.1_3'UTR NM_006870.3 NP_006861.1 P60981 DEST_HUMAN destrin (actin depolymerizing factor) 37 ADF-H. actin filament severing|actin polymerization or depolymerization actin binding endometrium(1)|large_intestine(5)|lung(8)|skin(1) 15 GAAGGCTGTCATTTTTTGTCTC 0.386 8 460 --- --- --- --- GZF1 64412 broad.mit.edu 37 20 23345921 23345923 + In_Frame_Del DEL GAG GAG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr20:23345921_23345923delGAG ENST00000338121.5 + 2 978_980 c.901_903delGAG c.(901-903)del p.E306del GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Intron Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 306 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) ggaggaggaagaggaggaggagg 0.532 17 395 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29625899 29625900 + Frame_Shift_Ins INS - - AT TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr20:29625899_29625900insAT ENST00000278882.3 + 5 523_524 c.143_144insAT c.(142-144)atafs p.I48fs FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTATGGAAAATATCTTGGTA 0.342 19 604 --- --- --- --- TRAPPC10 7109 broad.mit.edu 37 21 45472274 45472275 + Frame_Shift_Ins INS - - A rs149217788 byFrequency TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr21:45472274_45472275insA ENST00000291574.4 + 4 574_575 c.399_400insA c.(397-402)aaaaaafs p.KK133fs TRAPPC10_ENST00000380221.3_Frame_Shift_Ins_p.KK133fs NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 133 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity p.K133N(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 ATGATGCCAAGAAAAAAAACAA 0.356 7 666 --- --- --- --- KRTAP10-6 386674 broad.mit.edu 37 21 46012219 46012220 + In_Frame_Ins INS - - GGGGCGCAGCAGCTG rs71199613 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr21:46012219_46012220insGGGGCGCAGCAGCTG ENST00000400368.1 - 1 166_167 c.146_147insCAGCTGCTGCGCCCC c.(145-147)cgc>cCAGCTGCTGCGCCCCgc p.48_49insPAAAP TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 48 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 GGCAGGGGGCCGGGGCGCAGCA 0.688 38 204 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17127506 17127507 + RNA INS - - A TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr22:17127506_17127507insA ENST00000426585.1 + 0 442 AGGGCCTAGAGAAAAAAAAAAT 0.421 9 288 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17131536 17131537 + RNA INS - - CTG rs34452519 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr22:17131536_17131537insCTG ENST00000426585.1 + 0 2562_2563 TGCCCACTCTTCTGGTCTCATG 0.540 3 5 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661170 22661170 + RNA DEL T T - rs58170086 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr22:22661170delT ENST00000426066.1 + 0 262 NR_027293.1 AGCATACAGGTTTTCCCCCCC 0.403 7 155 --- --- --- --- C22orf43 51233 broad.mit.edu 37 22 23959767 23959769 + In_Frame_Del DEL CAT CAT - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr22:23959767_23959769delCAT ENST00000317749.5 - 7 809_811 c.512_514delATG c.(511-516)gcc>g p.DA171del NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 171 Asp-rich. endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 CTTACCTGGGcatcatcatcatc 0.433 7 251 --- --- --- --- HMGXB4 10042 broad.mit.edu 37 22 35661544 35661544 + Frame_Shift_Del DEL A A - rs76572304 TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr22:35661544delA ENST00000216106.5 + 5 1291 c.1163delA c.(1162-1164)gafs p.E388fs HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.E279fs NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 388 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GGGCATAGTGAaaaaaaaaag 0.493 11 161 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr22:36696948_36696950delCTC ENST00000216181.5 - 22 3015_3017 c.2785_2787delGAG c.(2785-2787)del p.E929del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 929 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTGGCAGCGCTCCTCCTCCTCC 0.665 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 9 435 --- --- --- --- DDX17 10521 broad.mit.edu 37 22 38897211 38897211 + Frame_Shift_Del DEL T T - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr22:38897211delT ENST00000396821.3 - 2 461 c.362delA c.(361-363)agfs p.K121fs DDX17_ENST00000381633.3_Frame_Shift_Del_p.K42fs|DDX17_ENST00000432525.1_5'UTR NM_001098504.1|NM_006386.4 NP_001091974.1|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 42 RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) CAAATCCCACTTTTTTTTACG 0.418 7 186 --- --- --- --- SREBF2 6721 broad.mit.edu 37 22 42262949 42262951 + In_Frame_Del DEL GCA GCA - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chr22:42262949_42262951delGCA ENST00000361204.4 + 2 369_371 c.203_205delGCA c.(202-207)ggc>g p.GS68del NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 68 Gly/Pro/Ser-rich. cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 ggcagcagtggcagcagcagcag 0.567 14 400 --- --- --- --- PAK3 5063 broad.mit.edu 37 X 110406206 110406208 + In_Frame_Del DEL GAA GAA - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chrX:110406206_110406208delGAA ENST00000519681.1 + 10 1037_1039 c.595_597delGAA c.(595-597)del p.E203del PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 197 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 agatgaagaggaagaagaagaag 0.394 TSP Lung(19;0.15) 7 387 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639325 149639327 + In_Frame_Del DEL CAG CAG - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chrX:149639325_149639327delCAG ENST00000370401.2 + 4 1790_1792 c.1480_1482delCAG c.(1480-1482)del p.Q502del MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR Q13495 MAMD1_HUMAN mastermind-like domain containing 1 502 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) AAGCcagcaacagcagcagcagc 0.532 12 243 --- --- --- --- RNA5-8SP6 0 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-F2-6879-01A-11D-2154-08 TCGA-F2-6879-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5 c043e276-fece-4cb9-a848-a0b16e6099b6 g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 8 95 --- --- --- ---