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 SRCAP 10847 broad.mit.edu 37 16 30749733 30749733 + Missense_Mutation SNP C C T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr16:30749733C>T ENST00000262518.4 + 34 8757 c.8372C>T c.(8371-8373)cCg>cTg p.P2791L SRCAP_ENST00000344771.4_Missense_Mutation_p.P2633L|SRCAP_ENST00000395059.2_Missense_Mutation_p.P2729L NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2791 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity p.P2791L(1) NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CCGGGAAGCCCGTCTGTCCGC 0.662000 22 481 0 0 1 0 0 NLGN3 54413 broad.mit.edu 37 X 70367880 70367880 + Missense_Mutation SNP C C T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chrX:70367880C>T ENST00000374051.3 + 2 603 c.281C>T c.(280-282)tCg>tTg p.S94L NLGN3_ENST00000536169.1_Missense_Mutation_p.S94L|NLGN3_ENST00000358741.3_Missense_Mutation_p.S94L NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 94 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) CCATCCTGGTCGGGCATCCGG 0.632000 27 306 0 0 1 0 0 HTR1B 3351 broad.mit.edu 37 6 78172557 78172557 + Silent SNP A A C TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr6:78172557A>C ENST00000369947.2 - 1 933 c.564T>G c.(562-564)cgT>cgG p.R188R NM_000863.1 NP_000854.1 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled 188 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 25 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) CCTTAGCCTGACGCCAGAAGA 0.587000 22 455 0 0 1 0 0 GAB2 9846 broad.mit.edu 37 11 77937956 77937956 + Silent SNP C C T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr11:77937956C>T ENST00000361507.4 - 4 847 c.762G>A c.(760-762)ccG>ccA p.P254P GAB2_ENST00000340149.2_Silent_p.P216P NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 254 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) TGTGCCGGCTCGGCTTGGGAA 0.572000 27 358 0 0 1 0 0 PBX2 5089 broad.mit.edu 37 6 32155509 32155509 + Missense_Mutation SNP T T A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr6:32155509T>A ENST00000375050.4 - 5 1055 c.785A>T c.(784-786)tAt>tTt p.Y262F NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 262 transcription factor binding p.Y262F(3) endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 GGAGTAGAAATACTCATTTAG 0.517000 6 138 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68190978 68190978 + Missense_Mutation SNP A A T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr11:68190978A>T ENST00000294304.7 + 14 3155 c.3049A>T c.(3049-3051)Agc>Tgc p.S1017C NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1017 Beta-propeller 4. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GACCTCTCTGAGCCAAGGCCA 0.587000 120 687 0 0 1 0 0 CACNB1 782 broad.mit.edu 37 17 37334238 37334238 + Splice_Site SNP G G T rs143114489 TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr17:37334238G>T ENST00000394303.3 - 12 1352 c.1146_splice c.e12+1 p.P382_splice CACNB1_ENST00000394310.3_Splice_Site_p.P382_splice|CACNB1_ENST00000344140.5_Splice_Site_p.P427_splice NM_000723.4 NP_000714.3 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 subunit 382 axon guidance voltage-gated calcium channel complex breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) GGCACTCACAGGGGGGCACTG 0.537000 61 595 1.69475e-38 1.83111e-38 1 1 0 BTAF1 9044 broad.mit.edu 37 10 93711219 93711219 + Missense_Mutation SNP G G C TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr10:93711219G>C ENST00000265990.6 + 5 768 c.460G>C c.(460-462)Ggc>Cgc p.G154R NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 154 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) GAAGAAACTTGGCCTTAATAT 0.363000 34 460 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664743 22664743 + RNA SNP G G A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr22:22664743G>A ENST00000426066.1 + 0 924 NR_027293.1 CAGACTAAAGGCAAACAAGGA 0.498000 9 230 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821413 5821413 + Missense_Mutation SNP G G A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chrX:5821413G>A ENST00000381095.3 - 5 1933 c.1306C>T c.(1306-1308)Cgg>Tgg p.R436W NLGN4X_ENST00000381092.1_Missense_Mutation_p.R436W|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R436W|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R456W|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R436W NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 436 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GTTTTCCGCCGCGTCTCCGGG 0.602000 27 306 0 0 1 0 0 RP11-193H5.1 0 broad.mit.edu 37 1 238090514 238090514 + RNA SNP T T A rs545540 by1000genomes TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr1:238090514T>A ENST00000450451.1 + 0 2020 NR_027247.2 GACCTTCAACTCCCCGGCCAT 0.607000 15 353 0 0 1 0 0 BCHE 590 broad.mit.edu 37 3 165548002 165548002 + Missense_Mutation SNP A A C TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr3:165548002A>C ENST00000264381.3 - 2 986 c.820T>G c.(820-822)Tta>Gta p.L274V BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 274 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) AATTTAGCTAAGTTCAACGTT 0.388000 89 611 0 0 1 0 0 ELMOD1 55531 broad.mit.edu 37 11 107535878 107535878 + Silent SNP G G A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr11:107535878G>A ENST00000265840.7 + 12 1225 c.960G>A c.(958-960)gcG>gcA p.A320A ELMOD1_ENST00000443271.2_Silent_p.A312A|ELMOD1_ENST00000531234.1_Silent_p.A314A NM_018712.3 NP_061182.3 Q8N336 ELMD1_HUMAN ELMO/CED-12 domain containing 1 320 phagocytosis cytoskeleton GTPase activator activity endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1) 19 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) CAGACATGGCGCTGTGCCCAC 0.478000 166 769 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35883716 35883716 + Missense_Mutation SNP A A G TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr13:35883716A>G ENST00000540320.1 + 36 6424 c.5890A>G c.(5890-5892)Atc>Gtc p.I1964V NBEA_ENST00000379939.2_Missense_Mutation_p.I1961V|NBEA_ENST00000310336.4_Missense_Mutation_p.I1964V|NBEA_ENST00000400445.3_Missense_Mutation_p.I1964V Q8NFP9 NBEA_HUMAN neurobeachin 1964 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TATTGAGCTCATCAATGAAGG 0.343000 5 64 0 0 1 0 0 ZNRF4 148066 broad.mit.edu 37 19 5455852 5455852 + Missense_Mutation SNP C C T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr19:5455852C>T ENST00000222033.4 + 1 427 c.350C>T c.(349-351)cCg>cTg p.P117L NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 117 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GCGGATCTGCCGGCGCTGTTC 0.672000 20 553 0 0 1 0 0 COLEC11 78989 broad.mit.edu 37 2 3691377 3691377 + Missense_Mutation SNP G G A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr2:3691377G>A ENST00000403096.3 + 6 898 c.407G>A c.(406-408)cGc>cAc p.R136H COLEC11_ENST00000404205.1_Missense_Mutation_p.R88H|COLEC11_ENST00000402794.1_Missense_Mutation_p.R112H|COLEC11_ENST00000402922.1_Missense_Mutation_p.R112H|COLEC11_ENST00000382062.2_Missense_Mutation_p.R138H|COLEC11_ENST00000236693.7_Missense_Mutation_p.R159H|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000349077.4_Missense_Mutation_p.R162H|COLEC11_ENST00000418971.2_Missense_Mutation_p.R176H NM_001255986.1 NP_001242915.1 Q9BWP8 COL11_HUMAN collectin sub-family member 11 162 collagen mannose binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1) 22 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) GAGGAGAAGCGCTACGCGGAC 0.637000 39 347 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151164707 151164707 + Missense_Mutation SNP C C T rs35114212 byFrequency TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr3:151164707C>T ENST00000282466.3 - 4 3061 c.3062G>A c.(3061-3063)cGg>cAg p.R1021Q 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 1021 cell differentiation|multicellular organismal development|ossification extracellular region p.R1021Q(1) 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) GCTGATAATCCGCCCCCTTCC 0.473000 39 542 0 0 1 0 0 RBM10 8241 broad.mit.edu 37 X 47038526 47038526 + Nonsense_Mutation SNP C C T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chrX:47038526C>T ENST00000377604.3 + 8 1430 c.688C>T c.(688-690)Cga>Tga p.R230* RBM10_ENST00000345781.6_Nonsense_Mutation_p.R153*|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Nonsense_Mutation_p.R153* NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 230 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 CTTCAAACGCCGAGAGAAGTG 0.597000 11 126 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098910 11098910 + RNA SNP G G A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr21:11098910G>A ENST00000470054.1 - 0 15 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gcagctcagcgggagatacca 0.587000 6 105 0 0 1 0 0 TRBV5-4 0 broad.mit.edu 37 7 142168890 142168890 + RNA SNP C C T rs143671051 by1000genomes TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr7:142168890C>T ENST00000454561.2 - 0 155 GGGCTTGGTCCTCCTGGGGAA 0.592000 11 137 0 0 1 0 0 KCNK3 3777 broad.mit.edu 37 2 26951301 26951301 + Silent SNP C C T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr2:26951301C>T ENST00000302909.3 + 2 1175 c.1050C>T c.(1048-1050)ggC>ggT p.G350G NM_002246.2 NP_002237.1 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 350 synaptic transmission integral to plasma membrane endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGGGAGGGGGCGGCCGCTACA 0.701000 7 65 0 0 1 0 0 BIN1 274 broad.mit.edu 37 2 127806138 127806138 + Silent SNP G G A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr2:127806138G>A ENST00000316724.5 - 19 2157 c.1746C>T c.(1744-1746)ggC>ggT p.G582G BIN1_ENST00000348750.4_Silent_p.G398G|BIN1_ENST00000346226.3_Silent_p.G507G|BIN1_ENST00000409400.1_Silent_p.G428G|BIN1_ENST00000393040.3_Silent_p.G471G|BIN1_ENST00000259238.4_Silent_p.G486G|BIN1_ENST00000393041.3_Silent_p.G464G|BIN1_ENST00000376113.2_Silent_p.G413G|BIN1_ENST00000357970.3_Silent_p.G539G|BIN1_ENST00000351659.3_Silent_p.G495G|BIN1_ENST00000352848.3_Silent_p.G443G NM_139343.2 NP_647593.1 O00499 BIN1_HUMAN bridging integrator 1 582 SH3. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus p.G582G(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) CGGGGAAGACGCCACGGCACT 0.622000 36 434 0 0 1 0 0 PIK3R4 30849 broad.mit.edu 37 3 130452457 130452457 + Missense_Mutation SNP T T A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr3:130452457T>A ENST00000356763.3 - 4 1942 c.1385A>T c.(1384-1386)tAc>tTc p.Y462F NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 462 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 TGGCAGAATGTATTCCGGATA 0.438000 73 493 0 0 1 0 0 ARHGEF25 115557 broad.mit.edu 37 12 58010135 58010135 + Missense_Mutation SNP C C T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr12:58010135C>T ENST00000286494.4 + 14 1949 c.1489C>T c.(1489-1491)Cct>Tct p.P497S ARHGEF25_ENST00000333972.7_Missense_Mutation_p.P536S|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA NM_182947.3 NP_891992.2 Q86VW2 ARHGP_HUMAN Rho guanine nucleotide exchange factor (GEF) 25 497 regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 28 GCCAAGAGGGCCTGGAGTGGG 0.592000 65 391 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23870014 23870014 + Missense_Mutation SNP G G C TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr14:23870014G>C ENST00000405093.3 - 13 1384 c.1314C>G c.(1312-1314)aaC>aaG p.N438K MYH6_ENST00000356287.3_Missense_Mutation_p.N438K NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 438 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TCACCATCCAGTTGAACATCT 0.562000 34 504 0 0 1 0 0 HIST1H2BJ 8970 broad.mit.edu 37 6 27100336 27100336 + Missense_Mutation SNP G G A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr6:27100336G>A ENST00000607124.1 - 1 193 c.194C>T c.(193-195)tCg>tTg p.S65L HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.S65L|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.S65L P06899 H2B1J_HUMAN histone cluster 1, H2bj 65 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1) 10 GTTCACAAACGAATTCATGAT 0.562000 67 1107 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17531109 17531109 + Missense_Mutation SNP T T G TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr11:17531109T>G ENST00000005226.7 - 18 1806 c.1807A>C c.(1807-1809)Att>Ctt p.I603L USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000318024.4_Intron NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 0 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 GGGATGGGAATGGGGGGTGGA 0.662000 10 96 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69689654 69689654 + Missense_Mutation SNP C C T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr16:69689654C>T ENST00000349945.1 + 7 2418 c.866C>T c.(865-867)aCt>aTt p.T289I NFAT5_ENST00000354436.2_Missense_Mutation_p.T365I|NFAT5_ENST00000566899.1_Missense_Mutation_p.T289I|NFAT5_ENST00000567239.1_Missense_Mutation_p.T383I|NFAT5_ENST00000432919.1_Missense_Mutation_p.T383I|NFAT5_ENST00000393742.2_Missense_Mutation_p.T289I NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 365 RHD. excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 ATTGAAGGCACTACTGTTATA 0.423000 31 536 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5903661 5903661 + Missense_Mutation SNP G G A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr20:5903661G>A ENST00000378961.4 + 4 1075 c.871G>A c.(871-873)Gac>Aac p.D291N NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 291 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GAGCAGGCCCGACAGGTCCTC 0.582000 11 119 0 0 1 0 0 RP11-119F19.2 0 broad.mit.edu 37 10 81443180 81443180 + RNA SNP G G A rs150662545 by1000genomes TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr10:81443180G>A ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA ACAGCCCCTCGCTGCTTAGGC 0.547000 7 169 0 0 1 0 0 TTC19 54902 broad.mit.edu 37 17 15909860 15909860 + Silent SNP A A G TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr17:15909860A>G ENST00000261647.5 + 7 1123 c.654A>G c.(652-654)gaA>gaG p.E218E TTC19_ENST00000497842.2_3'UTR|TTC19_ENST00000486880.2_Silent_p.E339E NM_017775.3 NP_060245.3 Q6DKK2 TTC19_HUMAN tetratricopeptide repeat domain 19 218 cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly centrosome|midbody|mitochondrial inner membrane protein binding central_nervous_system(1)|lung(2)|skin(1)|stomach(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) GAGAAAAGGAATTAGCAGAAG 0.363000 69 396 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821615 72821615 + Silent SNP G G A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr16:72821615G>A ENST00000268489.5 - 10 11232 c.10560C>T c.(10558-10560)ggC>ggT p.G3520G AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3520 Poly-Gly. 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) cgccgccgccgccaccgccgc 0.706000 9 143 0 0 1 0 0 IGDCC4 57722 broad.mit.edu 37 15 65678310 65678310 + Silent SNP T T G TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr15:65678310T>G ENST00000352385.2 - 18 3248 c.3039A>C c.(3037-3039)ccA>ccC p.P1013P NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1013 integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 CATGGGCAGCTGGGGGGCTGG 0.667000 OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 114 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25490518 25490518 + RNA SNP T T C rs1969608 by1000genomes TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr15:25490518T>C ENST00000453082.2 + 0 2669 NR_003343.1 ACCCCCAGTGTGCTGAAGCTC 0.622000 12 411 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179429212 179429212 + Missense_Mutation SNP C C T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr2:179429212C>T ENST00000589042.1 - 326 81871 c.81647G>A c.(81646-81648)cGc>cAc p.R27216H TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R18343H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R24648H|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R25575H|TTN_ENST00000460472.2_Missense_Mutation_p.R18151H|TTN_ENST00000359218.5_Missense_Mutation_p.R18276H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25575 Fibronectin type-III 98. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCATCCAGCGGCCATCAGG 0.368000 11 148 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871055 170871055 + Silent SNP G G A rs112928724 TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr6:170871055G>A ENST00000392092.2 + 3 510 c.231G>A c.(229-231)caG>caA p.Q77Q TBP_ENST00000230354.6_Silent_p.Q77Q|TBP_ENST00000540980.1_Silent_p.Q57Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 77 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) aacagcagcagcagcagcagc 0.572000 25 305 0 0 1 0 0 LRRN2 10446 broad.mit.edu 37 1 204587730 204587730 + Missense_Mutation SNP C C T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr1:204587730C>T ENST00000367175.1 - 1 3603 c.1391G>A c.(1390-1392)cGa>cAa p.R464Q LRRN2_ENST00000367176.3_Missense_Mutation_p.R464Q|LRRN2_ENST00000367177.3_Missense_Mutation_p.R464Q O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 464 Ig-like C2-type. cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) AGGTGTCAGTCGAAGCCCAGC 0.637000 25 279 0 0 1 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64719038 64719038 + Missense_Mutation SNP A A T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chrX:64719038A>T ENST00000338957.4 + 3 975 c.908A>T c.(907-909)gAc>gTc p.D303V ZC3H12B_ENST00000423889.3_Missense_Mutation_p.D292V NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 292 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AACTACCGAGACCTTCAAGTT 0.433000 50 541 0 0 1 0 0 BEND7 222389 broad.mit.edu 37 10 13534699 13534699 + Missense_Mutation SNP A A T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr10:13534699A>T ENST00000341083.3 - 5 889 c.593T>A c.(592-594)cTa>cAa p.L198Q BEND7_ENST00000396898.2_Missense_Mutation_p.L263Q|BEND7_ENST00000378605.3_Missense_Mutation_p.L211Q|BEND7_ENST00000396900.2_Missense_Mutation_p.L250Q NM_152751.2 NP_689964.2 Q8N7W2 BEND7_HUMAN BEN domain containing 7 250 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 GAGAGCAGATAGCTCAGAGGC 0.522000 76 935 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10597887 10597887 + Nonsense_Mutation SNP C C A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr11:10597887C>A ENST00000547195.1 - 20 2958 c.2458G>T c.(2458-2460)Gag>Tag p.E820* MRVI1_ENST00000527509.2_Nonsense_Mutation_p.E820*|MRVI1_ENST00000531107.1_Nonsense_Mutation_p.E903*|MRVI1_ENST00000421747.1_Nonsense_Mutation_p.E902*|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000545852.1_Nonsense_Mutation_p.E596*|MRVI1_ENST00000541483.1_Nonsense_Mutation_p.E705*|MRVI1_ENST00000423302.2_Nonsense_Mutation_p.E911*|MRVI1_ENST00000552103.1_Nonsense_Mutation_p.E820*|MRVI1_ENST00000424001.1_Nonsense_Mutation_p.E596*|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000558540.1_Nonsense_Mutation_p.E596*|MRVI1_ENST00000534266.2_Nonsense_Mutation_p.E596*|MRVI1_ENST00000436272.1_Nonsense_Mutation_p.E884*|MRVI1-AS1_ENST00000529829.1_RNA NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 884 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TCCTACTGCTCTGTAGGCTGC 0.577000 25 192 4.7796e-09 4.93717e-09 1 1 0 SLC29A3 55315 broad.mit.edu 37 10 73115969 73115969 + Missense_Mutation SNP T T C TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr10:73115969T>C ENST00000373189.5 + 5 794 c.742T>C c.(742-744)Tac>Cac p.Y248H SLC29A3_ENST00000469204.1_3'UTR NM_001174098.1|NM_018344.5 NP_001167569.1|NP_060814.4 Q9BZD2 S29A3_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 3 248 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 15 CATGGGACTCTACCTGCTGCT 0.557000 15 410 0 0 1 0 0 C15orf59 388135 broad.mit.edu 37 15 74032751 74032751 + Missense_Mutation SNP G G A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr15:74032751G>A ENST00000569673.1 - 3 1593 c.389C>T c.(388-390)tCg>tTg p.S130L C15orf59_ENST00000379822.4_Missense_Mutation_p.S130L|C15orf59_ENST00000558834.1_5'UTR Q2T9L4 CO059_HUMAN chromosome 15 open reading frame 59 130 breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TGGCCGAGTCGACTCGGGACC 0.627000 88 599 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369296 20369296 + RNA SNP C C T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr19:20369296C>T ENST00000593655.1 - 0 199 TGGGATGACACGAAACACCTG 0.378000 115 911 0 0 1 0 0 CYP2D7P1 0 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr22:42538870A>C ENST00000358097.4 - 0 449 CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 9 138 0 0 1 0 0 SDCBP 6386 broad.mit.edu 37 8 59490601 59490601 + Missense_Mutation SNP G G T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr8:59490601G>T ENST00000523483.1 + 7 1986 c.472G>T c.(472-474)Gtt>Ttt p.V158F SDCBP_ENST00000520168.1_Intron|SDCBP_ENST00000447267.2_Missense_Mutation_p.V84F|SDCBP_ENST00000447182.2_Missense_Mutation_p.V137F|SDCBP_ENST00000424270.2_Missense_Mutation_p.V132F|SDCBP_ENST00000422546.2_Missense_Mutation_p.V137F|SDCBP_ENST00000413219.2_Missense_Mutation_p.V138F|SDCBP_ENST00000260130.4_Missense_Mutation_p.V138F O00560 SDCB1_HUMAN syndecan binding protein (syntenin) 138 PDZ 1. actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 8 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) GGGTATATTTGTTCAGCTAGT 0.378000 41 378 3.43241e-23 3.66644e-23 1 1 0 CYP7A1 1581 broad.mit.edu 37 8 59404129 59404129 + Missense_Mutation SNP C C G TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr8:59404129C>G ENST00000301645.3 - 6 1557 c.1420G>C c.(1420-1422)Gct>Cct p.A474P NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 474 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) GGACATTTAGCTTGGCCCTCT 0.388000 Neonatal Giant Cell Hepatitis 41 400 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579311 7579311 + Splice_Site SNP C C T rs68140816 TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr17:7579311C>T ENST00000420246.2 - 4 508 c.e4+1 TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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) GGGCAACTGACCGTGCAAGTC 0.532000 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) 65 427 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126412333 126412333 + Missense_Mutation SNP G G A rs138173652 TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr4:126412333G>A ENST00000394329.3 + 17 14369 c.14356G>A c.(14356-14358)Gga>Aga p.G4786R FAT4_ENST00000335110.5_Missense_Mutation_p.G3027R NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4786 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TCCTCCAGTCGGACTTTCTAT 0.527000 44 451 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66468444 66468444 + Missense_Mutation SNP C C G TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr11:66468444C>G ENST00000533211.1 - 17 3457 c.3126G>C c.(3124-3126)gaG>gaC p.E1042D SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1042D|SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1042D O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1042 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CGGTCTGCACCTCTCTCAGCC 0.692000 46 258 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074431 76074431 + RNA SNP C C T rs149323153 by1000genomes TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr15:76074431C>T ENST00000395215.3 + 0 610 p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 25 222 0 0 1 0 0 MIDN 90007 broad.mit.edu 37 19 1257115 1257115 + Missense_Mutation SNP C C A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr19:1257115C>A ENST00000300952.2 + 8 1766 c.1251C>A c.(1249-1251)caC>caA p.H417Q MIDN_ENST00000591446.2_Missense_Mutation_p.H417Q NM_177401.4 NP_796375.3 Q504T8 MIDN_HUMAN midnolin 417 nucleolus NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTCCGTACCACTGGTCACCCA 0.706000 19 235 4.96729e-08 5.0207e-08 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625955 29625955 + Nonsense_Mutation SNP A A T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr20:29625955A>T ENST00000278882.3 + 5 579 c.199A>T c.(199-201)Aga>Tga p.R67* FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67* endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATTGGACCAAGAGAACAATG 0.338000 24 706 0 0 1 0 0 SHQ1 55164 broad.mit.edu 37 3 72893552 72893552 + Missense_Mutation SNP C C T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr3:72893552C>T ENST00000325599.8 - 2 305 c.166G>A c.(166-168)Gta>Ata p.V56I SHQ1_ENST00000463369.1_Missense_Mutation_p.V28I NM_018130.2 NP_060600.2 Q6PI26 SHQ1_HUMAN SHQ1, H/ACA ribonucleoprotein assembly factor 56 CS. ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding p.V56L(1) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) CCATTTTCTACAATTCTTCCA 0.333000 20 285 0 0 1 0 0 RPS11 6205 broad.mit.edu 37 19 50000840 50000840 + Missense_Mutation SNP C C T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr19:50000840C>T ENST00000270625.2 + 3 294 c.211C>T c.(211-213)Cgg>Tgg p.R71W RPS11_ENST00000599561.1_Missense_Mutation_p.A36V|RPS11_ENST00000596873.1_Missense_Mutation_p.R71W|RPS11_ENST00000594493.1_5'UTR NM_001015.4 NP_001006.1 P62280 RS11_HUMAN ribosomal protein S11 71 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|rRNA binding|structural constituent of ribosome kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 7 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245) CATTCGAGGGCGGATCCTCTC 0.537000 71 498 0 0 1 0 0 DDHD1 0 broad.mit.edu 37 14 53558534 53558534 + Missense_Mutation SNP C C T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr14:53558534C>T ENST00000357758.3 - 4 1441 c.1258G>A c.(1258-1260)Gac>Aac p.D420N DDHD1_ENST00000323669.5_Missense_Mutation_p.D420N|DDHD1_ENST00000395606.1_Missense_Mutation_p.D427N NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 420 lipid catabolic process cytoplasm hydrolase activity|metal ion binding p.D420H(2) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) CTTCCTTGGTCCATTTTCTGC 0.363000 83 565 0 0 1 0 0 PCDHGA2 0 broad.mit.edu 37 5 140720422 140720422 + Silent SNP G G A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr5:140720422G>A ENST00000394576.2 + 1 1884 c.1884G>A c.(1882-1884)acG>acA p.T628T PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 p.T628T(2) breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTGCGCACGGCGCGAGCCC 0.682000 25 568 0 0 1 0 0 ZNF653 115950 broad.mit.edu 37 19 11596575 11596575 + Missense_Mutation SNP T T C TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr19:11596575T>C ENST00000293771.5 - 7 1602 c.1466A>G c.(1465-1467)aAt>aGt p.N489S CTC-398G3.6_ENST00000585656.1_Intron NM_138783.3 NP_620138.2 Q96CK0 ZN653_HUMAN zinc finger protein 653 489 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 17 ATGCACAAGATTGACGTGGTT 0.562000 63 568 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25380275 25380275 + Missense_Mutation SNP T T G rs17851045 TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr12:25380275T>G ENST00000311936.3 - 3 374 c.183A>C c.(181-183)caA>caC p.Q61H KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H|KRAS_ENST00000557334.1_Intron NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 61 Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; 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.Q61H(153) 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) TGTACTCCTCTTGACCTGCTG 0.423000 Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 36 381 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50154310 50154310 + Missense_Mutation SNP G G A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr19:50154310G>A ENST00000360565.3 + 7 788 c.664G>A c.(664-666)Gcc>Acc p.A222T NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 222 Pro-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) AGCCCCACCTGCCCCCCGATT 0.667000 8 88 0 0 1 0 0 WDR91 29062 broad.mit.edu 37 7 134879811 134879811 + Missense_Mutation SNP C C T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr7:134879811C>T ENST00000354475.4 - 9 1301 c.1270G>A c.(1270-1272)Gcc>Acc p.A424T WDR91_ENST00000423565.1_Missense_Mutation_p.A389T|WDR91_ENST00000344400.5_Missense_Mutation_p.A424T NM_014149.3 NP_054868.3 A4D1P6 WDR91_HUMAN WD repeat domain 91 424 breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 TCTAAGCTGGCGACTCTCCTC 0.527000 6 155 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4772583 4772585 + In_Frame_Del DEL CCA CCA - rs141981296 byFrequency TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 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 8 191 --- --- --- --- PLEKHG5 57449 broad.mit.edu 37 1 6536011 6536013 + In_Frame_Del DEL CTC CTC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr1:6536011_6536013delCTC ENST00000377748.1 - 4 855_857 c.358_360delGAG c.(358-360)del p.E120del PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 99 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CCACAGAGCTCTCCTCCTCCTCC 0.631 OREG0013041 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 587 --- --- --- --- PHF13 148479 broad.mit.edu 37 1 6680069 6680071 + In_Frame_Del DEL GAA GAA - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr1:6680069_6680071delGAA ENST00000377648.4 + 3 730_732 c.348_350delGAA c.(346-351)ctg>ct p.LK116del PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 116 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) cggacaagctgaagaagaagaag 0.576 13 453 --- --- --- --- SPEN 23013 broad.mit.edu 37 1 16255142 16255143 + Frame_Shift_Del DEL GA GA - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 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 9 685 --- --- --- --- EXTL1 2134 broad.mit.edu 37 1 26349533 26349535 + In_Frame_Del DEL CCT CCT - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr1:26349533_26349535delCCT ENST00000374280.3 + 1 1263_1265 c.396_398delCCT c.(394-399)tgc>tg p.CL132del NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 132 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CTGGGGCCTGCCTCCTCCTCCTC 0.606 8 402 --- --- --- --- RSPO1 284654 broad.mit.edu 37 1 38078467 38078469 + In_Frame_Del DEL TGC TGC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr1:38078467_38078469delTGC ENST00000356545.2 - 8 1537_1539 c.750_752delGCA c.(748-753)caa>ca p.QQ250del RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 250 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) CACTGTCCCTTGCTGCTGCTGCT 0.621 7 890 --- --- --- --- TMCO2 127391 broad.mit.edu 37 1 40713708 40713709 + Frame_Shift_Del DEL TC TC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr1:40713708_40713709delTC ENST00000372766.3 + 1 136_137 c.43_44delTC c.(43-45)tfs p.S15fs TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 15 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CCTCTTAGAGTCTCTCTCTCTC 0.406 14 1275 --- --- --- --- BRDT 676 broad.mit.edu 37 1 92447228 92447230 + In_Frame_Del DEL AGC AGC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr1:92447228_92447230delAGC ENST00000370389.2 + 12 2623_2625 c.1699_1701delAGC c.(1699-1701)del p.S575del BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 648 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) ACTGAGTGAGagcagcagcagca 0.419 8 649 --- --- --- --- SLC25A24 29957 broad.mit.edu 37 1 108700183 108700183 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr1:108700183delT ENST00000565488.1 - 5 789 c.570delA c.(568-570)aafs p.K190fs SLC25A24_ENST00000370041.4_Frame_Shift_Del_p.K171fs NM_013386.4 NP_037518.3 Q6NUK1 SCMC1_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 190 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding p.K171fs*29(1)|p.K190fs*29(1) endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) ATTGTCCGGATTTTTTTTCGT 0.453 7 809 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210193 143210194 + RNA INS - - T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr1:143210193_143210194insT ENST00000412204.2 - 0 876_877 RP11-782C8.1_ENST00000438000.1_lincRNA GGCAGCATTTGTTTTTTTAACA 0.317 21 527 --- --- --- --- PPIAL4G 644591 broad.mit.edu 37 1 143767825 143767825 + Frame_Shift_Del DEL A A - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr1:143767825delA ENST00000419275.1 - 1 56 c.24delT c.(22-24)ttfs p.F8fs NM_001123068.1 NP_001116540.1 A2BFH1 PAL4G_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like 4G 8 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1) 14 CGGTGATGTCAAAAAAGATGA 0.478 7 1456 --- --- --- --- RP11-403I13.4 0 broad.mit.edu 37 1 149262062 149262066 + RNA DEL ATAAG ATAAG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr1:149262062_149262066delATAAG ENST00000325963.8 + 0 1609_1613 ACTCTACTCTATAAGATATTTGTTT 0.371 15 487 --- --- --- --- ADAMTSL4 54507 broad.mit.edu 37 1 150530506 150530506 + Frame_Shift_Del DEL G G - rs149280379 TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr1:150530506delG ENST00000271643.4 + 14 2499 c.2263delG c.(2263-2265)ggfs p.G758fs ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs 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 8 821 --- --- --- --- MCL1 4170 broad.mit.edu 37 1 150551492 150551494 + In_Frame_Del DEL TCC TCC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr1:150551492_150551494delTCC ENST00000369026.2 - 1 572_574 c.513_515delGGA c.(511-516)gac>ga p.ED171del MCL1_ENST00000307940.3_In_Frame_Del_p.ED171del NM_001197320.1|NM_021960.4 NP_001184249.1|NP_068779.1 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 (BCL2-related) 171 PEST-like. anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity endometrium(2)|large_intestine(1)|lung(4)|prostate(1) 8 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GTACAACTCGTCCTCCTCCTCCT 0.635 8 562 --- --- --- --- KIAA0907 22889 broad.mit.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT CT - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr1:155886422_155886423delCT ENST00000368320.3 - 12 1571_1572 c.1546_1547delAG c.(1546-1548)gfs p.R516fs KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs Q7Z7F0 K0907_HUMAN KIAA0907 516 p.R516fs*21(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTACCTGTCCCTCTCTCTCTCT 0.396 11 1175 --- --- --- --- PVRL4 81607 broad.mit.edu 37 1 161059028 161059030 + In_Frame_Del DEL AGC AGC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr1:161059028_161059030delAGC ENST00000368012.3 - 1 359_361 c.57_59delGCT c.(55-60)cta>ct p.LL21del NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 21 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TGCCAGCAGTAGCAGCAGCAGCA 0.567 7 805 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 7 518 --- --- --- --- AXDND1 126859 broad.mit.edu 37 1 179337955 179337955 + Frame_Shift_Del DEL A A - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr1:179337955delA ENST00000367618.3 + 3 505 c.118delA c.(118-120)aafs p.K41fs AXDND1_ENST00000457238.2_Frame_Shift_Del_p.K41fs|AXDND1_ENST00000461179.2_Intron NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 41 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 GCTAAAGGAGAAAAAAAATAT 0.378 8 415 --- --- --- --- CPSF3 51692 broad.mit.edu 37 2 9595887 9595888 + Splice_Site DEL GT GT - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr2:9595887_9595888delGT ENST00000460593.1 + 13 2630 c.e13+1 CPSF3_ENST00000238112.3_Splice_Site Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 73kDa histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) AAATTGACAGGTGTGTGTGTGT 0.366 7 333 --- --- --- --- SMC6 79677 broad.mit.edu 37 2 17898126 17898126 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr2:17898126delT ENST00000448223.2 - 14 1497 c.1228delA c.(1228-1230)tafs p.I410fs SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 410 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACCAAGATATTTTTTTTTGT 0.343 10 301 --- --- --- --- APOB 338 broad.mit.edu 37 2 21247750 21247751 + Splice_Site INS - - A rs35442885 TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 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 7 348 --- --- --- --- RMDN2 151393 broad.mit.edu 37 2 38178783 38178783 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr2:38178783delT ENST00000407257.1 + 2 572 c.425delT c.(424-426)atfs p.I142fs RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000354545.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs regulator of microtubule dynamics 2 AAGAGTGCCATTTTTTTTGAT 0.333 9 612 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39095411 39095413 + In_Frame_Del DEL CCA CCA - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr2:39095411_39095413delCCA ENST00000295373.6 - 2 261_263 c.135_137delTGG c.(133-138)gga>gg p.GG47del NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 47 Gly-rich. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) Gccgccacctccaccaccaccac 0.532 8 633 --- --- --- --- USP34 9736 broad.mit.edu 37 2 61575023 61575025 + In_Frame_Del DEL TGG TGG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr2:61575023_61575025delTGG ENST00000398571.2 - 15 2341_2343 c.2265_2267delCCA c.(2263-2268)cat>ca p.HH759del NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 759 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) gtggtggtgatggtggtggtggt 0.389 7 494 --- --- --- --- AFTPH 54812 broad.mit.edu 37 2 64778672 64778674 + In_Frame_Del DEL GAT GAT - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr2:64778672_64778674delGAT ENST00000422803.1 + 2 378_380 c.64_66delGAT c.(64-66)del p.D26del AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del Q6ULP2 AFTIN_HUMAN aftiphilin 26 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TGGAGCAGAGGATGATGATGATG 0.409 8 952 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 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 12 1663 --- --- --- --- GCC2 9648 broad.mit.edu 37 2 109087914 109087914 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr2:109087914delT ENST00000309863.6 + 6 2843 c.2129delT c.(2128-2130)gtfs p.V710fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 710 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 GATTTGGAGGTTTTTTTGTCT 0.299 8 1551 --- --- --- --- RANBP2 5903 broad.mit.edu 37 2 109380485 109380487 + In_Frame_Del DEL GAT GAT - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr2:109380485_109380487delGAT ENST00000283195.6 + 20 3616_3618 c.3490_3492delGAT c.(3490-3492)del p.D1168del NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1168 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TGCCCATGGGGATGATGATGATG 0.424 7 876 --- --- --- --- RANBP2 5903 broad.mit.edu 37 2 109382805 109382805 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr2:109382805delT ENST00000283195.6 + 20 5936 c.5810delT c.(5809-5811)atfs p.I1937fs NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1937 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CGTGGTGTGATTTTTGGCCAA 0.413 8 1823 --- --- --- --- MARCH7 64844 broad.mit.edu 37 2 160604680 160604680 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr2:160604680delT ENST00000259050.3 + 5 1001 c.879delT c.(877-879)acfs p.T293fs MARCH7_ENST00000409591.1_Frame_Shift_Del_p.T255fs|MARCH7_ENST00000409175.1_Frame_Shift_Del_p.T293fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.T237fs NM_022826.2 NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 293 Ser-rich. ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 TGTCATCTACTTTTTTTTCAC 0.393 7 414 --- --- --- --- RBM45 129831 broad.mit.edu 37 2 178988920 178988920 + Frame_Shift_Del DEL A A - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr2:178988920delA ENST00000286070.5 + 8 1227 c.1135delA c.(1135-1137)aafs p.K381fs NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 383 cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding p.A382fs*7(2)|p.?(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) TCCATCATGCAAAAAAAAAGC 0.353 17 600 --- --- --- --- COL4A4 1286 broad.mit.edu 37 2 227896886 227896886 + Frame_Shift_Del DEL C C - rs2229812 by1000genomes TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr2:227896886delC ENST00000396625.3 - 39 3891 c.3684delG c.(3682-3684)aafs p.K1229fs COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K1229fs NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1229 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GGGGACCTTTCTTTCCACGAG 0.522 7 582 --- --- --- --- SGOL1 151648 broad.mit.edu 37 3 20216049 20216050 + Frame_Shift_Ins INS - - T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr3:20216049_20216050insT ENST00000412997.1 - 6 1324_1325 c.973_974insA c.(973-975)gcafs p.A325fs SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000412868.1_Frame_Shift_Ins_p.A325fs|SGOL1_ENST00000263753.4_Frame_Shift_Ins_p.A325fs|SGOL1_ENST00000419233.2_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000421451.1_Frame_Shift_Ins_p.A325fs|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000383774.1_Intron NM_001199251.1 NP_001186180.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 325 attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 AGATTTGTGCATTTTTTTTTGG 0.317 7 292 --- --- --- --- CLASP2 23122 broad.mit.edu 37 3 33602361 33602361 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr3:33602361delT ENST00000399362.4 - 28 3243 c.2890delA c.(2890-2892)tgfs p.M964fs CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 966 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 TCAGCACCCATTTTTTTTAGT 0.343 10 921 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49094314 49094316 + In_Frame_Del DEL TGC TGC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr3:49094314_49094316delTGC ENST00000395443.2 - 3 1789_1791 c.1317_1319delGCA c.(1315-1320)caa>ca p.QQ439del QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 439 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AACTTGGAgttgctgctgctgct 0.562 7 524 --- --- --- --- PARP3 10039 broad.mit.edu 37 3 51978150 51978152 + In_Frame_Del DEL AAC AAC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr3:51978150_51978152delAAC ENST00000417220.2 + 4 717_719 c.229_231delAAC c.(229-231)del p.N80del PARP3_ENST00000431474.1_In_Frame_Del_p.N80del|PARP3_ENST00000398755.3_In_Frame_Del_p.N87del Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 80 N -> K (in Ref. 2; AAD29855). DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CAACATCGAGAACAACAACAACA 0.596 7 1479 --- --- --- --- MAGI1 9223 broad.mit.edu 37 3 65372850 65372851 + Frame_Shift_Del DEL TC TC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr3:65372850_65372851delTC ENST00000330909.8 - 15 2466_2467 c.2467_2468delGA c.(2467-2469)afs p.E823fs MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 823 PDZ 4. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GGAATTGATTTCTCTCTCTCTC 0.401 16 467 --- --- --- --- SLCO2A1 6578 broad.mit.edu 37 3 133670082 133670083 + Frame_Shift_Ins INS - - A rs141736851 TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr3:133670082_133670083insA ENST00000310926.4 - 6 1103_1104 c.830_831insT c.(829-831)tttfs p.F277fs SLCO2A1_ENST00000493729.1_Frame_Shift_Ins_p.F201fs NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 277 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 CTCGAGGGAAGAAAAAAAAGGG 0.490 7 734 --- --- --- --- WWTR1 25937 broad.mit.edu 37 3 149260194 149260196 + In_Frame_Del DEL CTG CTG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr3:149260194_149260196delCTG ENST00000465804.1 - 5 953_955 c.697_699delCAG c.(697-699)del p.Q233del WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 233 Gln-rich. hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GCCGCAGTTTCTGCTGCTGCTGC 0.581 T CAMTA1 epitheliod hemangioendothelioma 9 458 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 150877786 150877786 + Frame_Shift_Del DEL C C - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr3:150877786delC ENST00000474524.1 + 7 1043 c.1005delC c.(1003-1005)ggfs p.G335fs MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 335 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCAGCCCTGGCCCCCCCGGCC 0.582 9 1130 --- --- --- --- DHX36 170506 broad.mit.edu 37 3 154032977 154032978 + Frame_Shift_Ins INS - - T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr3:154032977_154032978insT ENST00000496811.1 - 3 540_541 c.460_461insA c.(460-462)gttfs p.V154fs DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 154 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GATTCTAAACATTTTTTTTTCT 0.337 8 383 --- --- --- --- RP11-3P17.4 0 broad.mit.edu 37 3 161146872 161146873 + RNA DEL AT AT - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr3:161146872_161146873delAT ENST00000473595.1 + 0 1231 NR_102265.1 TGGTGAAAAGATATATATATAT 0.342 7 112 --- --- --- --- RNF168 165918 broad.mit.edu 37 3 196214338 196214338 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr3:196214338delT ENST00000318037.3 - 3 1084 c.490delA c.(490-492)ggfs p.R166fs NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 166 Glu-rich. double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) GCTCTTCGCCTTTTTTCTGCC 0.448 8 1934 --- --- --- --- TMEM175 84286 broad.mit.edu 37 4 946206 946207 + Frame_Shift_Del DEL TG TG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr4:946206_946207delTG ENST00000264771.4 + 7 615_616 c.430_431delTG c.(430-432)tfs p.C144fs TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs 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 11 1331 --- --- --- --- TLR10 81793 broad.mit.edu 37 4 38774956 38774956 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr4:38774956delT ENST00000308973.4 - 4 2861 c.2256delA c.(2254-2256)aafs p.K752fs TLR10_ENST00000361424.2_Frame_Shift_Del_p.K752fs|TLR10_ENST00000506111.1_Frame_Shift_Del_p.K752fs|TLR10_ENST00000508334.1_Frame_Shift_Del_p.K752fs NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 752 TIR. inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 CCAAGTATGCTTTTTTTTCCA 0.388 7 636 --- --- --- --- LIMCH1 22998 broad.mit.edu 37 4 41648508 41648509 + Frame_Shift_Del DEL GA GA - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr4:41648508_41648509delGA ENST00000313860.7 + 12 1317_1318 c.1263_1264delGA c.(1261-1266)cggafs p.RR421fs LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 421 actomyosin structure organization actin binding|zinc ion binding p.E810fs*3(1)|p.E425fs*3(1) central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TTAGAGAGCGGAGAGAGAGAGA 0.465 11 733 --- --- --- --- KIAA1211 57482 broad.mit.edu 37 4 57179503 57179503 + Frame_Shift_Del DEL A A - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr4:57179503delA ENST00000504228.1 + 5 600 c.495delA c.(493-495)ccfs p.P165fs KIAA1211_ENST00000541073.1_Frame_Shift_Del_p.P158fs|KIAA1211_ENST00000264229.6_Frame_Shift_Del_p.P165fs Q6ZU35 K1211_HUMAN KIAA1211 165 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CTGTTAAGCCAAAAAAACAGA 0.572 7 699 --- --- --- --- YTHDC1 91746 broad.mit.edu 37 4 69202891 69202893 + In_Frame_Del DEL TCC TCC - rs141105019 TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr4:69202891_69202893delTCC ENST00000344157.4 - 4 1070_1072 c.735_737delGGA c.(733-738)gaa>ga p.EE247del YTHDC1_ENST00000579690.1_In_Frame_Del_p.EE247del|YTHDC1_ENST00000355665.3_In_Frame_Del_p.EE247del NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 247 Glu-rich. p.E245E(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 ttcttcttcttcctcctcctcct 0.473 7 374 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123250 81123252 + In_Frame_Del DEL CAG CAG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr4:81123250_81123252delCAG ENST00000339711.4 + 10 1865_1867 c.634_636delCAG c.(634-636)del p.Q217del PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del|PRDM8_ENST00000504452.1_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) 8 423 --- --- --- --- WDFY3 23001 broad.mit.edu 37 4 85611708 85611709 + Frame_Shift_Del DEL CA CA - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr4:85611708_85611709delCA ENST00000322366.6 - 60 9669_9670 c.9262_9263delTG c.(9262-9264)gfs p.W3088fs WDFY3_ENST00000295888.4_Frame_Shift_Del_p.W3105fs Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 3105 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GCCCATCTCCCACACACACACA 0.510 7 578 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CCATTCACATCAGCAGCAGCAGC 0.340 9 547 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190873437 190873439 + In_Frame_Del DEL AAG AAG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 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 24 992 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32089076 32089076 + Frame_Shift_Del DEL A A - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr5:32089076delA ENST00000438447.1 + 20 5910 c.5522delA c.(5521-5523)cafs p.Q1841fs PDZD2_ENST00000282493.3_Frame_Shift_Del_p.Q1841fs O15018 PDZD2_HUMAN PDZ domain containing 2 1841 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus p.V1845fs*6(1) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AGTTCAAGCCAAAAAAAGGGC 0.478 7 652 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32090059 32090061 + In_Frame_Del DEL TCC TCC - rs61744453 by1000genomes TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr5:32090059_32090061delTCC ENST00000438447.1 + 20 6893_6895 c.6505_6507delTCC c.(6505-6507)del p.S2173del PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del O15018 PDZD2_HUMAN PDZ domain containing 2 2173 Ser-rich. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AAAACTGGCGTCCTCCTCCTCCT 0.527 8 878 --- --- --- --- FGF10 2255 broad.mit.edu 37 5 44388715 44388717 + In_Frame_Del DEL AGC AGC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr5:44388715_44388717delAGC ENST00000264664.4 - 1 182_184 c.68_70delGCT c.(67-72)ttt>t p.CF23del NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 23 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) AGCAACAAAAAGCAGCAGCAGCA 0.537 8 380 --- --- --- --- IPO11 51194 broad.mit.edu 37 5 61847114 61847115 + Frame_Shift_Ins INS - - T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr5:61847114_61847115insT ENST00000325324.6 + 26 2580_2581 c.2411_2412insT c.(2410-2412)attfs p.I804fs IPO11_ENST00000409296.3_Frame_Shift_Ins_p.I844fs NM_016338.4 NP_057422.3 Q9UI26 IPO11_HUMAN importin 11 804 cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) CAAAACACTAGTTTTTTTTCTT 0.302 7 886 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139905676 139905676 + Frame_Shift_Del DEL A A - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr5:139905676delA ENST00000297183.6 + 26 4712 c.4588delA c.(4588-4590)aafs p.K1531fs ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs|ANKHD1-EIF4EBP3_ENST00000532219.1_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 1177 --- --- --- --- PCDHB4 0 broad.mit.edu 37 5 140502486 140502487 + Frame_Shift_Ins INS - - A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr5:140502486_140502487insA ENST00000194152.1 + 1 906_907 c.906_907insA c.(904-909)ttaaaafs p.LK302fs NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 302 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.K305fs*12(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATACTGTTGAAAAAAAAATT 0.366 13 1133 --- --- --- --- PCDHGC3 0 broad.mit.edu 37 5 140857742 140857742 + Frame_Shift_Del DEL A A - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr5:140857742delA ENST00000308177.3 + 1 2163 c.2059delA c.(2059-2061)aafs p.K688fs PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGGGAGCAGAAAAAAAATCT 0.502 OREG0016865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 1716 --- --- --- --- HAVCR2 84868 broad.mit.edu 37 5 156535948 156535950 + In_Frame_Del DEL AGC AGC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr5:156535948_156535950delAGC ENST00000307851.4 - 1 775_777 c.45_47delGCT c.(43-48)cta>ct p.LL17del CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_In_Frame_Del_p.LL17del NM_032782.4 NP_116171.3 Q8TDQ0 HAVR2_HUMAN hepatitis A virus cellular receptor 2 17 integral to membrane p.L18delL(1)|p.L15L(1) cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGTAAGTAGTAGCAGCAGCAGCA 0.438 9 412 --- --- --- --- RBM24 221662 broad.mit.edu 37 6 17292126 17292128 + In_Frame_Del DEL GCT GCT - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr6:17292126_17292128delGCT ENST00000379052.5 + 4 723_725 c.487_489delGCT c.(487-489)del p.A172del RBM24_ENST00000318204.5_In_Frame_Del_p.A127del|RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000425446.2_In_Frame_Del_p.A114del NM_001143942.1 NP_001137414.1 Q9BX46 RBM24_HUMAN RNA binding motif protein 24 172 Ala-rich. cell differentiation|regulation of mRNA stability|regulation of myotube differentiation cytoplasm|nucleus mRNA 3'-UTR binding|nucleotide binding endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 13 Breast(50;0.0615)|Ovarian(93;0.0733) all_hematologic(90;0.062) all cancers(50;0.131)|Epithelial(50;0.15) ATACTCAGCAgctgctgctgctg 0.606 8 534 --- --- --- --- DAXX 1616 broad.mit.edu 37 6 33287898 33287900 + In_Frame_Del DEL TCC TCC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr6:33287898_33287900delTCC ENST00000374542.5 - 5 1557_1559 c.1353_1355delGGA c.(1351-1356)gaa>ga p.EE455del DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_In_Frame_Del_p.EE380del|DAXX_ENST00000266000.6_In_Frame_Del_p.EE455del NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 455 Asp/Glu-rich (acidic).|Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding p.E451E(2) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 ctcttcttcttcctcctcctcct 0.552 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 10 315 --- --- --- --- SYNGAP1 8831 broad.mit.edu 37 6 33411201 33411203 + In_Frame_Del DEL CAC CAC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr6:33411201_33411203delCAC ENST00000418600.2 + 15 2973_2975 c.2872_2874delCAC c.(2872-2874)del p.H966del SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 966 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 TTCCTCccatcaccaccaccacc 0.645 8 1144 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr6:41621169_41621171delCTG ENST00000373050.4 + 4 601_603 c.414_416delCTG c.(412-417)ctc>ct p.LC138del Q99750 MDFI_HUMAN MyoD family inhibitor 199 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTCGTGCCTCTGCTGCTGCTGC 0.655 7 745 --- --- --- --- HSP90AB1 3326 broad.mit.edu 37 6 44221052 44221052 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr6:44221052delT ENST00000371554.1 + 11 2216 c.2002delT c.(2002-2004)ttfs p.F668fs HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F668fs|HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F668fs P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 668 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ATCTTCTGGCTTTTCCCTTGA 0.527 7 2893 --- --- --- --- ICK 22858 broad.mit.edu 37 6 52883129 52883129 + Splice_Site DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr6:52883129delT ENST00000356971.3 - 8 1151 c.663_splice c.e8+1 p.K221_splice ICK_ENST00000350082.5_Splice_Site_p.K221_splice NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 221 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TATCATTACCTTTTTTGGTGT 0.502 13 1530 --- --- --- --- KIAA1009 22832 broad.mit.edu 37 6 84896233 84896233 + Frame_Shift_Del DEL A A - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr6:84896233delA ENST00000403245.3 - 12 1332 c.1218delT c.(1216-1218)ttfs p.F406fs KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 406 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) CATTTTTGTCAAAAAAAAGGT 0.358 11 864 --- --- --- --- C6orf165 154313 broad.mit.edu 37 6 88144700 88144700 + Frame_Shift_Del DEL A A - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr6:88144700delA ENST00000507897.1 + 11 1506 c.1423delA c.(1423-1425)aafs p.K476fs C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 476 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGAAAAGGCCAAAAAAAATAC 0.269 9 393 --- --- --- --- GABRR1 2569 broad.mit.edu 37 6 89891719 89891721 + In_Frame_Del DEL AAG AAG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr6:89891719_89891721delAAG ENST00000435811.1 - 7 1255_1257 c.801_803delCTT c.(799-804)ttg>tt p.FL267del GABRR1_ENST00000454853.2_In_Frame_Del_p.FL284del|GABRR1_ENST00000369451.3_In_Frame_Del_p.FL197del NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 284 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) AGTTTGGAGCAAGAAGAAGAAGA 0.522 7 688 --- --- --- --- MAP3K7 6885 broad.mit.edu 37 6 91296568 91296570 + In_Frame_Del DEL GAG GAG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr6:91296568_91296570delGAG ENST00000369329.3 - 1 194_196 c.33_35delCTC c.(31-36)tcg>tc p.SS13del MAP3K7_ENST00000369325.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369327.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369332.3_In_Frame_Del_p.SS13del NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 13 Poly-Ser. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) GGCCGAAGACGAGGAGGAGGAGG 0.655 8 179 --- --- --- --- PPIL6 285755 broad.mit.edu 37 6 109757309 109757309 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr6:109757309delT ENST00000521072.2 - 2 809 c.229delA c.(229-231)ggfs p.R77fs PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs|PPIL6_ENST00000424445.2_Intron NM_173672.4 NP_775943.1 Q8IXY8 PPIL6_HUMAN peptidylprolyl isomerase (cyclophilin)-like 6 77 protein folding peptidyl-prolyl cis-trans isomerase activity large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259) TCCTTTACCCTTTTTTTCTCC 0.338 8 871 --- --- --- --- SHPRH 257218 broad.mit.edu 37 6 146264834 146264836 + In_Frame_Del DEL ATC ATC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr6:146264834_146264836delATC ENST00000367503.3 - 9 2079_2081 c.1681_1683delGAT c.(1681-1683)del p.D561del SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del|SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del|SHPRH_ENST00000367505.2_In_Frame_Del_p.D561del NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 561 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) AATAGTAAGGATCATCATCATCA 0.360 7 726 --- --- --- --- NOX3 50508 broad.mit.edu 37 6 155743925 155743926 + Frame_Shift_Del DEL CA CA - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr6:155743925_155743926delCA ENST00000159060.2 - 10 1312_1313 c.1210_1211delTG c.(1210-1212)cfs p.C404fs NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 404 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CGCGGCAACGCACACACACACT 0.530 8 1002 --- --- --- --- MLLT4-AS1 0 broad.mit.edu 37 6 168227187 168227189 + RNA DEL CAT CAT - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr6:168227187_168227189delCAT ENST00000359760.5 - 0 200_202 NR_027906.1 CCATCGGACCCATCACCGCCCGT 0.680 7 771 --- --- --- --- HOXA1 3198 broad.mit.edu 37 7 27135314 27135316 + In_Frame_Del DEL CGA CGA - rs10951154 byFrequency TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr7:27135314_27135316delCGA ENST00000343060.4 - 1 277_279 c.216_218delTCG c.(214-219)cac>ca p.HR72del HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 72 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 Ctgggggtggcgatggtggtggt 0.650 OREG0003750 type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 420 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 18 831 --- --- --- --- ZNF733P 0 broad.mit.edu 37 7 62752415 62752416 + RNA INS - - C TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr7:62752415_62752416insC ENST00000331425.6 - 0 1019_1020 NR_003952.1 GCATAGGGTTTTCTCTAGTATG 0.421 9 125 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72664015 72664016 + RNA INS - - G TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr7:72664015_72664016insG ENST00000425256.1 - 0 884_885 NR_002164.1 ATACCACCCCCGGGGCATGCCA 0.505 7 87 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82595446 82595447 + Frame_Shift_Ins INS - - T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr7:82595446_82595447insT ENST00000423517.2 - 4 3994_3995 c.3657_3658insA c.(3655-3660)aataatfs p.NN1219fs PCLO_ENST00000333891.8_Frame_Shift_Ins_p.NN1219fs NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1158 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCAGGGATTAGTTTTTTTTCTT 0.386 7 1389 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100373941 100373948 + RNA DEL AGGGAGGG AGGGAGGG - rs3991185 TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr7:100373941_100373948delAGGGAGGG ENST00000542585.1 + 0 6337 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) actTGAaggaagggagggagggagggag 0.553 11 6 --- --- --- --- RP1L1 94137 broad.mit.edu 37 8 10467629 10467630 + In_Frame_Ins INS - - TTC rs146656804 by1000genomes TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr8:10467629_10467630insTTC ENST00000382483.3 - 4 4201_4202 c.3978_3979insGAA c.(3976-3981)aacaga>aaGAAcaga p.1326_1327insK NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1326 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) ccttcttctgttttagtttcct 0.455 7 540 --- --- --- --- NEFL 4747 broad.mit.edu 37 8 24811843 24811843 + RNA DEL A A - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 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 14 324 --- --- --- --- TEX15 56154 broad.mit.edu 37 8 30695491 30695491 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr8:30695491delT ENST00000256246.2 - 3 7234 c.7160delA c.(7159-7161)agfs p.K2387fs NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2387 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CATTTCAACCTTTTTTGGCGT 0.388 8 1229 --- --- --- --- BHLHE22 27319 broad.mit.edu 37 8 65493617 65493618 + In_Frame_Ins INS - - GGC TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr8:65493617_65493618insGGC ENST00000321870.1 + 1 804_805 c.270_271insGGC c.(268-273)aggcgg>agGGCgcgg p.90_91RR>RAR RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 90 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 gcgcgggaagtggcggcggcgg 0.782 5 11 --- --- --- --- C8orf59 401466 broad.mit.edu 37 8 86129664 86129664 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr8:86129664delT ENST00000417663.2 - 2 136 c.65delA c.(64-66)acfs p.N22fs C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1 NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1 Q8N0T1 CH059_HUMAN chromosome 8 open reading frame 59 22 AGCCTTAAAGTTTTTTTGGCT 0.343 8 919 --- --- --- --- RGS22 26166 broad.mit.edu 37 8 101076229 101076229 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr8:101076229delT ENST00000360863.6 - 8 961 c.767delA c.(766-768)agfs p.K256fs RGS22_ENST00000523437.1_Frame_Shift_Del_p.K244fs|RGS22_ENST00000523287.1_Frame_Shift_Del_p.K75fs NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 256 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AGATGGGTCCTTTTTTGTCCT 0.328 8 1823 --- --- --- --- PABPC1 26986 broad.mit.edu 37 8 101724994 101724995 + Frame_Shift_Ins INS - - A rs140822921 by1000genomes TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr8:101724994_101724995insA ENST00000318607.5 - 6 1889_1890 c.761_762insT c.(760-762)agafs p.R254fs PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.R222fs|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.R209fs|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 13 452 --- --- --- --- ATAD2 29028 broad.mit.edu 37 8 124368685 124368685 + Frame_Shift_Del DEL A A - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr8:124368685delA ENST00000287394.5 - 13 1697 c.1590delT c.(1588-1590)ttfs p.F530fs ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CAATTTCGTCAAAAAAAATAA 0.413 7 233 --- --- --- --- KCNQ3 3786 broad.mit.edu 37 8 133150232 133150233 + Frame_Shift_Ins INS - - T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr8:133150232_133150233insT ENST00000388996.4 - 12 2019_2020 c.1599_1600insA c.(1597-1602)aatcaafs p.NQ533fs KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.NQ533fs|KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.NQ413fs NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 533 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.F534I(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GTCTCCTTGAATTTTTTTTTAT 0.455 18 902 --- --- --- --- TSNARE1 203062 broad.mit.edu 37 8 143310866 143310868 + In_Frame_Del DEL GAT GAT - rs142964918 TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr8:143310866_143310868delGAT ENST00000524325.1 - 13 1691_1693 c.1516_1518delATC c.(1516-1518)del p.I506del TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del|TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 507 Poly-Ile. vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CAGAGGTGGCGATGATGATGATG 0.512 7 455 --- --- --- --- FOXD4 2298 broad.mit.edu 37 9 117406 117407 + Frame_Shift_Ins INS - - G TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr9:117406_117407insG ENST00000382500.2 - 1 1010_1011 c.713_714insC c.(712-714)cccfs p.P238fs NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 238 Pro-rich. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CTGGCTGCGGCGGGGCAGGGGC 0.743 7 494 --- --- --- --- KANK1 23189 broad.mit.edu 37 9 732475 732477 + In_Frame_Del DEL GAG GAG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr9:732475_732477delGAG ENST00000382303.1 + 10 3755_3757 c.3103_3105delGAG c.(3103-3105)del p.E1039del KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_In_Frame_Del_p.E881del NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1039 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TCTTGAAGAAGAGGAGGAGGAGG 0.463 7 789 --- --- --- --- RANBP6 26953 broad.mit.edu 37 9 6012690 6012690 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr9:6012690delT ENST00000259569.5 - 1 2928 c.2918delA c.(2917-2919)atfs p.N973fs NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 973 protein transport cytoplasm|nucleus binding p.N973fs*12(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) AGCAATGACATTTTTTTTGGT 0.358 9 531 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971010 21971026 + Frame_Shift_Del DEL GTCCACGGGCAGACGGC GTCCACGGGCAGACGGC - rs104894104 TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr9:21971010_21971026delGTCCACGGGCAGACGGC ENST00000579755.1 - 2 667_683 c.375_391delGCCGTCTGCCCGTGGAC c.(373-393)ggctfs p.GPSARGP125fs CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.GPSARGP125fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.GPSARGP166fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.GRLPVD60fs P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.P114L(27)|p.R112G(4)|p.V115L(4)|p.G111G(3)|p.P114H(3)|p.D116Y(2)|p.P114S(2)|p.H83fs*2(2)|p.D116V(1)|p.V115fs*11(1)|p.A169A(1)|p.R107fs*33(1)|p.D116N(1)|p.P167S(1)|p.R112S(1)|p.R112P(1)|p.A68fs*3(1)|p.G111D(1)|p.D105fs*8(1)|p.0(1)|p.L113L(1)|p.L113M(1)|p.L113P(1)|p.R170L(1)|p.V115fs*3(1)|p.P114P(1)|p.R112fs*32(1)|p.V115E(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) CCTCAGCCAGGTCCACGGGCAGACGGCCCCAGGCATC 0.728 P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 14 192 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr9:35906348_35906350delCTG ENST00000354323.2 + 1 160_162 c.64_66delCTG c.(64-66)del p.L28del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 28 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 TGTGGCGGTCctgctgctgctgc 0.670 7 144 --- --- --- --- ROR2 4920 broad.mit.edu 37 9 94486026 94486028 + In_Frame_Del DEL TCC TCC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr9:94486026_94486028delTCC ENST00000375708.3 - 9 2946_2948 c.2748_2750delGGA c.(2746-2751)gaa>ga p.EE916del ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 916 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GACAGAGCCTTCCTCCTCCTCCT 0.645 9 722 --- --- --- --- LYZL1 84569 broad.mit.edu 37 10 29599965 29599965 + Frame_Shift_Del DEL A A - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr10:29599965delA ENST00000375500.3 + 5 619 c.562delA c.(562-564)aafs p.K189fs NM_032517.4 NP_115906.3 Q6UWQ5 LYZL1_HUMAN lysozyme-like 1 143 cell wall macromolecule catabolic process extracellular region lysozyme activity central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1) 11 Breast(68;0.203) GTCCGAGTGGAAAAAAGGCTG 0.512 8 1268 --- --- --- --- SLC16A9 220963 broad.mit.edu 37 10 61414180 61414180 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr10:61414180delT ENST00000395348.3 - 5 1240 c.604delA c.(604-606)tafs p.I202fs SLC16A9_ENST00000395347.1_Frame_Shift_Del_p.I202fs NM_194298.2 NP_919274.1 Q7RTY1 MOT9_HUMAN solute carrier family 16, member 9 202 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 TCTGGAGCTATTTTTTTAGGC 0.378 7 1009 --- --- --- --- PLAU 5328 broad.mit.edu 37 10 75673298 75673298 + Splice_Site DEL A A - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr10:75673298delA ENST00000446342.1 + 6 893 c.409_splice c.e6-1 p.G137_splice C10orf55_ENST00000409178.1_Intron|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Splice_Site_p.G154_splice|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372762.4_Splice_Site_p.G118_splice NM_001145031.1 NP_001138503.1 P00749 UROK_HUMAN plasminogen activator, urokinase 154 Kringle. blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction cell surface|extracellular space|plasma membrane serine-type endopeptidase activity cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2) 16 Prostate(51;0.0112) Amiloride(DB00594)|Urokinase(DB00013) GTCCTCCAGGAAAAAAGCCCT 0.517 8 2358 --- --- --- --- ABCC2 1244 broad.mit.edu 37 10 101559000 101559000 + Frame_Shift_Del DEL A A - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr10:101559000delA ENST00000370449.4 + 8 1017 c.904delA c.(904-906)aafs p.K303fs NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 303 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GTCTGGGACCAAAAAAGATGT 0.403 9 1570 --- --- --- --- LZTS2 84445 broad.mit.edu 37 10 102763415 102763417 + In_Frame_Del DEL CCT CCT - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr10:102763415_102763417delCCT ENST00000370220.1 + 2 3623_3625 c.560_562delCCT c.(559-564)gcc>g p.AS187del LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 187 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GGGGGCCCTGcctcctcctcctc 0.650 10 1303 --- --- --- --- NOLC1 9221 broad.mit.edu 37 10 103917043 103917045 + In_Frame_Del DEL GAG GAG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr10:103917043_103917045delGAG ENST00000405356.1 + 3 509_511 c.274_276delGAG c.(274-276)del p.E96del NOLC1_ENST00000603742.1_Intron|NOLC1_ENST00000605788.1_In_Frame_Del_p.E96del|NOLC1_ENST00000488254.2_In_Frame_Del_p.E97del Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 96 11 X 12 AA approximate repeats of an acidic serine cluster. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) GGACAGCAGCGAGGAGGAGGAGG 0.537 7 344 --- --- --- --- RP13-726E6.2 0 broad.mit.edu 37 11 3552650 3552651 + RNA INS - - G rs34642454 TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr11:3552650_3552651insG ENST00000527970.1 - 0 285 CAGCACCCCATGGGGGGGCCCT 0.500 20 48 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3720389 3720389 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr11:3720389delT ENST00000324932.7 - 25 4352 c.3932delA c.(3931-3933)acfs p.N1311fs NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_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 12 1635 --- --- --- --- OR10A2 341276 broad.mit.edu 37 11 6891253 6891255 + In_Frame_Del DEL TTC TTC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr11:6891253_6891255delTTC ENST00000307322.4 + 1 330_332 c.268_270delTTC c.(268-270)del p.F94del NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TCAGATGTATTTCTTCTTCTTCT 0.517 7 1101 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 25 49 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14276276 14276277 + RNA DEL GT GT - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr11:14276276_14276277delGT ENST00000310358.7 + 0 1627 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GACCTATGAGGTGTGTGTGTGT 0.594 10 358 --- --- --- --- TSG101 7251 broad.mit.edu 37 11 18505466 18505466 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr11:18505466delT ENST00000536719.1 - 8 928 c.794delA c.(793-795)agfs p.K265fs TSG101_ENST00000251968.3_Frame_Shift_Del_p.K265fs|TSG101_ENST00000357193.3_Frame_Shift_Del_p.K160fs Q99816 TS101_HUMAN tumor susceptibility 101 265 cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 22 CTGGTGACCCTTTTTCAGGTC 0.438 7 2191 --- --- --- --- ARL14EP 120534 broad.mit.edu 37 11 30352754 30352754 + Frame_Shift_Del DEL A A - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr11:30352754delA ENST00000282032.3 + 2 474 c.259delA c.(259-261)aafs p.K88fs NM_152316.1 NP_689529.1 ADP-ribosylation factor-like 14 effector protein GAAATTAGCCAAAAAAAATTT 0.338 8 846 --- --- --- --- CCDC73 493860 broad.mit.edu 37 11 32635951 32635951 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr11:32635951delT ENST00000335185.5 - 16 1956 c.1913delA c.(1912-1914)atfs p.N638fs NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 638 p.N638fs*18(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TGGAACAGGATTTTTTTTTAT 0.313 8 297 --- --- --- --- OR8I2 120586 broad.mit.edu 37 11 55861308 55861308 + Frame_Shift_Del DEL T T - rs112181516 TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr11:55861308delT ENST00000302124.2 + 1 556 c.525delT c.(523-525)cafs p.H175fs OR8I2_ENST00000560768.1_Frame_Shift_Del_p.H175fs Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C178fs*2(1) NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) GCATCAATCATTTTTTTTGTG 0.443 8 1067 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 8 451 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 161 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACTTAATGTCAAAAAAAATGT 0.303 8 434 --- --- --- --- SACS 26278 broad.mit.edu 37 13 23914687 23914687 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr13:23914687delT ENST00000382298.3 - 10 3916 c.3328delA c.(3328-3330)ttfs p.I1110fs SACS_ENST00000382292.3_Frame_Shift_Del_p.I1110fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1110 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAGGCTTCAATTTTTTTTGCC 0.383 12 1881 --- --- --- --- HSPH1 10808 broad.mit.edu 37 13 31715381 31715382 + Frame_Shift_Ins INS - - T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr13:31715381_31715382insT ENST00000320027.5 - 13 2075_2076 c.1731_1732insA c.(1729-1734)aattgafs p.N*577fs HSPH1_ENST00000380406.5_Frame_Shift_Ins_p.N*536fs|HSPH1_ENST00000445273.2_Frame_Shift_Ins_p.N*579fs|HSPH1_ENST00000429785.2_Frame_Shift_Ins_p.N*396fs|HSPH1_ENST00000380405.4_Frame_Shift_Ins_p.N*533fs NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 577 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) GGCTGGTCAACTTTTTTTTCAT 0.376 13 678 --- --- --- --- SUPT20H 55578 broad.mit.edu 37 13 37583899 37583901 + In_Frame_Del DEL TGC TGC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr13:37583899_37583901delTGC ENST00000360252.4 - 25 2394_2396 c.2147_2149delGCA c.(2146-2151)aca>a p.ST716del SUPT20H_ENST00000350612.6_In_Frame_Del_p.A750del|SUPT20H_ENST00000475892.1_In_Frame_Del_p.ST794del|SUPT20H_ENST00000356185.3_In_Frame_Del_p.ST716del|SUPT20H_ENST00000464744.1_In_Frame_Del_p.ST716del NM_001278481.1|NM_001278482.1|NM_017569.3 NP_001265410.1|NP_001265411.1|NP_060039.1 suppressor of Ty 20 homolog (S. cerevisiae) GAGCTGTTTGTGCTGCTGCTGCT 0.448 7 719 --- --- --- --- GPR18 0 broad.mit.edu 37 13 99907539 99907540 + Frame_Shift_Ins INS - - A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr13:99907539_99907540insA ENST00000340807.3 - 3 1143_1144 c.587_588insT c.(586-588)tttfs p.F196fs UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Frame_Shift_Ins_p.F196fs|UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397473.2_Frame_Shift_Ins_p.F196fs Q14330 GPR18_HUMAN G protein-coupled receptor 18 196 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6) 10 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) AAGGAATCAAGAAAAAAAATGT 0.436 7 642 --- --- --- --- BAZ1A 11177 broad.mit.edu 37 14 35331423 35331423 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr14:35331423delT ENST00000360310.1 - 3 786 c.219delA c.(217-219)aafs p.K73fs BAZ1A_ENST00000382422.2_Frame_Shift_Del_p.K73fs|BAZ1A_ENST00000358716.4_Frame_Shift_Del_p.K73fs|BAZ1A_ENST00000553853.1_5'UTR NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 73 Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TCTGTCTTGCTTTTTTTTCTG 0.428 9 1228 --- --- --- --- FBXO34 55030 broad.mit.edu 37 14 55818554 55818555 + Frame_Shift_Ins INS - - T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 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 9 912 --- --- --- --- ARID4A 5926 broad.mit.edu 37 14 58831996 58831997 + Frame_Shift_Del DEL AG AG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr14:58831996_58831997delAG ENST00000355431.3 + 20 3562_3563 c.3189_3190delAG c.(3187-3192)caagfs p.QE1063fs ARID4A_ENST00000431317.2_Frame_Shift_Del_p.QE1063fs|ARID4A_ENST00000348476.3_Frame_Shift_Del_p.QE1063fs|ARID4A_ENST00000395168.3_Frame_Shift_Del_p.QE1063fs NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 1063 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TAATTGTACAAGAGAGAGAGAG 0.381 8 520 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del 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 10 989 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr14:73572607_73572608delAG ENST00000261973.7 + 11 1480_1481 c.1195_1196delAG c.(1195-1197)afs p.R399fs RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 399 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) agagcgggaaagagagagagag 0.446 8 201 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74205926 74205928 + In_Frame_Del DEL CTG CTG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 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 7 187 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - rs139532153 TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr14:89629149_89629151delGAG ENST00000345097.4 - 7 1196_1198 c.1080_1082delCTC c.(1078-1083)tca>tc p.SS360del FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del 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 13 236 --- --- --- --- HSP90AA1 3320 broad.mit.edu 37 14 102548591 102548591 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr14:102548591delT ENST00000334701.7 - 11 2593 c.2312delA c.(2311-2313)agfs p.K771fs HSP90AA1_ENST00000216281.8_Frame_Shift_Del_p.K649fs NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 649 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) AGCCTCTGCCTTTTGCCTTAA 0.468 7 1507 --- --- --- --- CHEK2P2 0 broad.mit.edu 37 15 20490739 20490739 + RNA DEL G G - rs143465906 TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr15:20490739delG ENST00000555186.1 + 0 568 NR_038836.1 GTTACAACCTGtttttttttt 0.423 8 375 --- --- --- --- FAN1 22909 broad.mit.edu 37 15 31196894 31196894 + Frame_Shift_Del DEL A A - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr15:31196894delA ENST00000362065.4 + 2 319 c.28delA c.(28-30)aafs p.K11fs FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 11 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 ACCTCCTGACAAAAAAAGGCC 0.353 Direct reversal of damage 8 804 --- --- --- --- KIAA1024 23251 broad.mit.edu 37 15 79750585 79750586 + Frame_Shift_Ins INS - - A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr15:79750585_79750586insA ENST00000305428.3 + 2 2171_2172 c.2096_2097insA c.(2095-2097)taafs p.*699fs NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 699 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 GTCAAGGCCTTAAAAAAAAGCC 0.545 7 910 --- --- --- --- VPS33B 26276 broad.mit.edu 37 15 91550236 91550238 + In_Frame_Del DEL TCC TCC - rs147271815 TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr15:91550236_91550238delTCC ENST00000333371.3 - 9 995_997 c.642_644delGGA c.(640-645)gat>ga p.ED214del VPS33B_ENST00000535843.1_In_Frame_Del_p.ED123del|VPS33B_ENST00000535906.1_In_Frame_Del_p.ED187del NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) 214 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) GGTTTCGCCATCCTCCTCCTCCT 0.522 7 867 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 16 1360 --- --- --- --- IL4R 3566 broad.mit.edu 37 16 27373787 27373789 + In_Frame_Del DEL GAG GAG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr16:27373787_27373789delGAG ENST00000395762.2 + 11 1373_1375 c.1114_1116delGAG c.(1114-1116)del p.E376del IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 376 Poly-Glu. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 GGTGGAGTGTGAGGAGGAGGAGG 0.591 8 422 --- --- --- --- EIF3C 8663 broad.mit.edu 37 16 28734579 28734581 + In_Frame_Del DEL GAG GAG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr16:28734579_28734581delGAG ENST00000331666.6 + 9 1057_1059 c.871_873delGAG c.(871-873)del p.E294del EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del Q99613 EIF3C_HUMAN eukaryotic translation initiation factor 3, subunit C 294 Poly-Glu. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(5)|skin(1) 6 GCGCCTGGATGAGGAGGAGGAGG 0.562 7 3492 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29994531 29994533 + In_Frame_Del DEL GAG GAG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr16:29994531_29994533delGAG ENST00000308893.4 + 12 2181_2183 c.1138_1140delGAG c.(1138-1140)del p.E392del TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 392 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CAACgaggaagaggaggaggagg 0.611 11 484 --- --- --- --- IRX6 79190 broad.mit.edu 37 16 55362674 55362676 + In_Frame_Del DEL GAG GAG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr16:55362674_55362676delGAG ENST00000290552.7 + 5 2116_2118 c.784_786delGAG c.(784-786)del p.E268del RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 268 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCTggaggaagaggaggaggagg 0.626 18 481 --- --- --- --- ZFP90 146198 broad.mit.edu 37 16 68598462 68598463 + Frame_Shift_Ins INS - - A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr16:68598462_68598463insA ENST00000570495.1 + 5 2064_2065 c.1772_1773insA c.(1771-1773)caafs p.Q591fs ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.Q591fs|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.Q591fs Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 591 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) AGAGCCTTCCGAAAAAAAACCA 0.411 8 1200 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr16:69782978_69782980delTCC ENST00000268802.5 - 6 596_598 c.567_569delGGA c.(565-570)gaa>ga p.EE189del NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 189 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCGTTTTCTTCCTCCTCCTCCT 0.522 15 710 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72991713 72991715 + In_Frame_Del DEL CCA CCA - rs4788682 by1000genomes TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 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 13 493 --- --- --- --- NPIPB15 440348 broad.mit.edu 37 16 74425400 74425402 + In_Frame_Del DEL CAA CAA - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 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 7 654 --- --- --- --- CA5A 763 broad.mit.edu 37 16 87936054 87936055 + Frame_Shift_Del DEL CC CC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr16:87936054_87936055delCC ENST00000309893.2 - 4 596_597 c.531_532delGG c.(529-534)ttctfs p.LA177fs NM_001739.1 NP_001730.1 P35218 CAH5A_HUMAN carbonic anhydrase VA, mitochondrial 177 one-carbon metabolic process mitochondrial matrix carbonate dehydratase activity|zinc ion binding large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(80;0.0513) CCTATCACAGCCAAACCATTCT 0.376 7 459 --- --- --- --- TUBB8P7 0 broad.mit.edu 37 16 90160897 90160898 + RNA INS - - GCG TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr16:90160897_90160898insGCG ENST00000567960.1 + 0 166 TUBB8P7_ENST00000564451.1_RNA CTCCTGGGAACGCGGCCCTCCC 0.728 46 121 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7495872 7495874 + In_Frame_Del DEL CGG CGG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr17:7495872_7495874delCGG ENST00000250113.7 - 15 2107_2109 c.1773_1775delCCG c.(1771-1776)cgt>cg p.RR591del MPDU1_ENST00000423172.2_3'UTR NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 591 Poly-Arg. R -> P (in dbSNP:rs36013555). cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) ACCACGGTTACGGCGGCGGCGGC 0.547 9 1536 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8415820 8415822 + In_Frame_Del DEL TTC TTC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr17:8415820_8415822delTTC ENST00000360416.3 - 24 3037_3039 c.2899_2901delGAA c.(2899-2901)del p.E967del MYH10_ENST00000269243.4_In_Frame_Del_p.E936del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 936 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TTTGGTTTCTTTCTTCTTCTTCT 0.350 7 363 --- --- --- --- AC022596.6 0 broad.mit.edu 37 17 16723089 16723092 + RNA DEL TTTG TTTG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr17:16723089_16723092delTTTG ENST00000417510.1 - 0 871 tttttttttttttgacagggtcta 0.490 9 68 --- --- --- --- SNORD3B-1 0 broad.mit.edu 37 17 18965245 18965246 + RNA INS - - T TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr17:18965245_18965246insT ENST00000363359.1 + 0 21_22 tttcagggatcatttctatagt 0.475 7 30 --- --- --- --- CCDC144CP 0 broad.mit.edu 37 17 20227624 20227624 + RNA DEL A A - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr17:20227624delA ENST00000340196.4 + 0 568 AAAAAGAAGTAAGAGTCAGGA 0.318 29 70 --- --- --- --- TMEM97 27346 broad.mit.edu 37 17 26653806 26653807 + Frame_Shift_Ins INS - - A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr17:26653806_26653807insA ENST00000226230.6 + 3 663_664 c.518_519insA c.(517-519)aaafs p.K173fs TMEM97_ENST00000336687.6_Frame_Shift_Ins_p.K66fs|TMEM97_ENST00000583381.1_Frame_Shift_Ins_p.K66fs NM_014573.2 NP_055388.2 Q5BJF2 TMM97_HUMAN transmembrane protein 97 173 cholesterol homeostasis|regulation of cell growth integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum protein binding p.K176fs?(1) endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 6 all_lung(13;0.000238)|Lung NSC(42;0.000789) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) GAAGAGAAAAGAAAAAAAAAAT 0.441 19 415 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27027202 27027204 + In_Frame_Del DEL AGC AGC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr17:27027202_27027204delAGC ENST00000314616.6 + 34 4856_4858 c.4573_4575delAGC c.(4573-4575)del p.S1528del SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1528 Poly-Ser. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CATCACCCCTAGCAGCAGCAGCA 0.537 8 1701 --- --- --- --- ZNF207 7756 broad.mit.edu 37 17 30677314 30677316 + In_Frame_Del DEL AAG AAG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr17:30677314_30677316delAAG ENST00000394670.4 + 1 179_181 c.10_12delAAG c.(10-12)del p.K7del RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000342555.6_5'UTR|ZNF207_ENST00000321233.6_In_Frame_Del_p.K7del|ZNF207_ENST00000577908.1_In_Frame_Del_p.K7del|ZNF207_ENST00000394673.2_In_Frame_Del_p.K7del|ZNF207_ENST00000341711.6_In_Frame_Del_p.K7del NM_001098507.1 NP_001091977.1 O43670 ZN207_HUMAN zinc finger protein 207 7 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2) 10 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) TATGGGTCGCAAGAAGAAGAAGC 0.542 7 1238 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34071994 34071996 + In_Frame_Del DEL TCC TCC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr17:34071994_34071996delTCC ENST00000254466.6 - 6 2547_2549 c.2520_2522delGGA c.(2518-2523)gaa>ga p.EE840del GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 840 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ctcctttccttcctcctcctcct 0.616 12 391 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr17:38978766_38978768delTCC ENST00000269576.5 - 1 79_81 c.70_72delGGA c.(70-72)del p.G24del TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 24 Gly-rich.|Head. Missing (in Ref. 1; AAA60544). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) ctcctccacatcctcctcctcct 0.547 21 274 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgt>cg p.RPLCCQTTCHPSCGMSSCCR85del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 43 449 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050859 58050859 + RNA DEL C C - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr17:58050859delC ENST00000586209.1 + 0 158 TTTTTTTTGGCAGTTTTTACT 0.418 7 119 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141017 66141017 + RNA DEL C C - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr17:66141017delC ENST00000590019.1 - 0 70 AAGATTTCTACAAAAAAAAAA 0.323 12 406 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112519 112520 + RNA INS - - A rs140158594 by1000genomes TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr18:112519_112520insA ENST00000576266.1 + 0 153_154 CCAGCTCCCCCGGGGCCTCCGT 0.530 9 96 --- --- --- --- NEDD4L 0 broad.mit.edu 37 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr18:55992284_55992286delTCC ENST00000456986.1 + 9 807_809 c.207_209delTCC c.(205-210)ctt>ct p.LP69del NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256830.9_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 9 1028 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10262139 10262139 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr19:10262139delT ENST00000340748.4 - 23 2387 c.2152delA c.(2152-2154)tgfs p.M718fs DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs|DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs 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 11 1129 --- --- --- --- OR7C2 26658 broad.mit.edu 37 19 15052604 15052604 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr19:15052604delT ENST00000248072.3 + 1 304 c.304delT c.(304-306)ttfs p.F104fs NM_012377.1 NP_036509.1 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, member 2 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) CACTCAGATATTTTTTTTCAT 0.468 7 432 --- --- --- --- AC005932.1 0 broad.mit.edu 37 19 19052859 19052860 + RNA INS - - C rs113093286 by1000genomes TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr19:19052859_19052860insC ENST00000601106.1 + 0 303 CACAGGGAGCACCCCCTTCCCA 0.579 4 2 --- --- --- --- ZNF43 7594 broad.mit.edu 37 19 22002025 22002026 + Splice_Site INS - - A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr19:22002025_22002026insA ENST00000594012.1 - 5 500 c.e5-2 ZNF43_ENST00000354959.4_Splice_Site|ZNF43_ENST00000598288.1_Splice_Site|ZNF43_ENST00000598381.1_Splice_Site|ZNF43_ENST00000595461.1_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 11 787 --- --- --- --- TSHZ3 57616 broad.mit.edu 37 19 31769141 31769142 + Frame_Shift_Ins INS - - C TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr19:31769141_31769142insC ENST00000240587.4 - 2 1884_1885 c.1557_1558insG c.(1555-1560)ggttgafs p.*520fs NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 520 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) AGGATATCAAGCCCCCCCTTGG 0.500 9 1380 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 8 1279 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40901643 40901644 + Frame_Shift_Ins INS - - G TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr19:40901643_40901644insG ENST00000324001.7 - 7 2885_2886 c.2615_2616insC c.(2614-2616)cgcfs p.R872fs PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 872 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) TTTTAGCGGCTGGGACCTGCCC 0.629 7 553 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 13 1011 --- --- --- --- DHX34 9704 broad.mit.edu 37 19 47883158 47883160 + In_Frame_Del DEL GGA GGA - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr19:47883158_47883160delGGA ENST00000328771.4 + 14 3247_3249 c.2898_2900delGGA c.(2896-2901)ctg>ct p.LE966del NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 966 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AGCAGCAGCTGGAGGAGGAGGAG 0.660 8 352 --- --- --- --- FUZ 80199 broad.mit.edu 37 19 50310483 50310485 + In_Frame_Del DEL CAG CAG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr19:50310483_50310485delCAG ENST00000313777.4 - 11 1343_1345 c.1180_1182delCTG c.(1180-1182)del p.L394del FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000445575.2_Intron NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 394 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TCTGGGGAGACAGCAGCAGCAGC 0.635 7 328 --- --- --- --- ZNF552 79818 broad.mit.edu 37 19 58320004 58320004 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr19:58320004delT ENST00000391701.1 - 3 797 c.628delA c.(628-630)gcfs p.S210fs ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron NM_024762.3 NP_079038.2 Q9H707 ZN552_HUMAN zinc finger protein 552 210 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) CTGTAATGGCTTTTTCCCCCA 0.468 8 658 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr20:30898763_30898765delGAG ENST00000375712.3 + 2 1350_1352 c.1183_1185delGAG c.(1183-1185)del p.E399del KIF3B_ENST00000418717.2_Intron NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 399 Poly-Glu. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGGTGGggaagaggaggaggagg 0.571 7 252 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 21 583 --- --- --- --- PWP2 5822 broad.mit.edu 37 21 45535692 45535694 + In_Frame_Del DEL GAG GAG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr21:45535692_45535694delGAG ENST00000291576.7 + 7 854_856 c.727_729delGAG c.(727-729)del p.E247del NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 247 Poly-Glu. cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) ggaggaggaagaggaggaggagg 0.640 7 275 --- --- --- --- IGLJ2 0 broad.mit.edu 37 22 23241753 23241754 + RNA INS - - A rs66963410 TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr22:23241753_23241754insA ENST00000390322.2 + 0 93_94 GGGCTGGGGCTGGGGCATCCCA 0.619 7 305 --- --- --- --- C22orf43 51233 broad.mit.edu 37 22 23959767 23959769 + In_Frame_Del DEL CAT CAT - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 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 9 403 --- --- --- --- RANGAP1 5905 broad.mit.edu 37 22 41650469 41650471 + In_Frame_Del DEL TCC TCC - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr22:41650469_41650471delTCC ENST00000455915.2 - 10 2570_2572 c.1101_1103delGGA c.(1099-1104)gaa>ga p.EE367del RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del P46060 RAGP1_HUMAN Ran GTPase activating protein 1 367 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ctcttctccttcctcctcctcct 0.562 13 745 --- --- --- --- ZC3H7B 23264 broad.mit.edu 37 22 41753399 41753401 + In_Frame_Del DEL CTG CTG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr22:41753399_41753401delCTG ENST00000352645.4 + 23 3157_3159 c.2900_2902delCTG c.(2899-2904)cct>c p.PA967del ZC3H7B_ENST00000351589.4_In_Frame_Del_p.PA967del NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 983 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CCAGAAGCCCCTGCTGCTGCTGC 0.650 7 879 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chr22:42610573_42610575delAGG ENST00000359486.3 - 1 873_875 c.737_739delCCT c.(736-741)ttc>t p.SF246del TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 246 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGTGAAGGGAaggaggaggagga 0.507 7 609 --- --- --- --- TXLNG 55787 broad.mit.edu 37 X 16850849 16850850 + Frame_Shift_Del DEL AG AG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chrX:16850849_16850850delAG ENST00000380122.5 + 6 1029_1030 c.968_969delAG c.(967-969)cfs p.Q323fs TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 323 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 GAAAAACATCAGAGAGAGAGAG 0.386 9 705 --- --- --- --- DMD 1756 broad.mit.edu 37 X 32361293 32361293 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chrX:32361293delT ENST00000357033.4 - 40 5903 c.5697delA c.(5695-5697)aafs p.K1899fs DMD_ENST00000378677.2_Frame_Shift_Del_p.K1895fs NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1899 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GGCTGGCTAATTTTTTTTCAA 0.358 10 1038 --- --- --- --- PRRG1 5638 broad.mit.edu 37 X 37312611 37312611 + Frame_Shift_Del DEL C C - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chrX:37312611delC ENST00000542554.1 + 5 666 c.394delC c.(394-396)ccfs p.P135fs PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000491253.1_3'UTR|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs NM_001173489.1 NP_001166960.1 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 135 Poly-Pro. extracellular region|integral to plasma membrane calcium ion binding p.P135fs*3(1)|p.P134fs*19(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 TATCACCCCACCCCCCCCACC 0.488 13 1215 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76812945 76812947 + In_Frame_Del DEL TCT TCT - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chrX:76812945_76812947delTCT ENST00000373344.5 - 30 6888_6890 c.6674_6676delAGA c.(6673-6678)agg>a p.KR2225del ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.KR2187del NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2225 Poly-Lys. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) GGAGTATCCCTCTTCTTCTTCTT 0.365 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 9 1233 --- --- --- --- PAK3 5063 broad.mit.edu 37 X 110406206 110406208 + In_Frame_Del DEL GAA GAA - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chrX:110406206_110406208delGAA ENST00000519681.1 + 10 1037_1039 c.595_597delGAA c.(595-597)del p.E203del PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del 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) 19 923 --- --- --- --- HTATSF1 27336 broad.mit.edu 37 X 135585048 135585050 + In_Frame_Del DEL AAG AAG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chrX:135585048_135585050delAAG ENST00000535601.1 + 6 1104_1106 c.682_684delAAG c.(682-684)del p.K232del HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 232 Poly-Lys. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) TGATGCCTCAAAGAAGAAGAAGA 0.335 8 918 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639325 149639327 + In_Frame_Del DEL CAG CAG - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chrX:149639325_149639327delCAG ENST00000370401.2 + 4 1790_1792 c.1480_1482delCAG c.(1480-1482)del p.Q502del MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del 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 19 606 --- --- --- --- IL9R 3581 broad.mit.edu 37 X 155231143 155231143 + Frame_Shift_Del DEL T T - TCGA-IB-7649-01A-11D-2154-08 TCGA-IB-7649-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04fede70-370b-42f5-b5d4-6e2139eada5e 5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1 g.chrX:155231143delT ENST00000540897.1 + 2 153 c.85delT c.(85-87)tcfs p.F29fs IL9R_ENST00000369423.2_Frame_Shift_Del_p.F39fs|IL9R_ENST00000424344.3_5'UTR|IL9R_ENST00000244174.5_Intron NM_176786.1 NP_789743.2 Q01113 IL9R_HUMAN interleukin 9 receptor 0 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGGCTGGTGGTTCCAGGCTGC 0.547 11 1658 --- --- --- ---